#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSF2	80221	genome.wustl.edu	37	17	48540911	48540914	+	Splice_Site	DEL	GAGG	GAGG	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	GAGG	GAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:48540911_48540914delGAGG	ENST00000300441.4	+	8	1148_1150	c.1044_1046delGAGG	c.(1042-1047)gagagg>gag	p.R349fs	ACSF2_ENST00000502667.1_Splice_Site_p.R336fs|ACSF2_ENST00000541920.1_Splice_Site_p.R189fs|ACSF2_ENST00000504392.1_Splice_Site_p.R306fs|ACSF2_ENST00000427954.2_Splice_Site_p.R374fs	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	349					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCAGCAGAGAGAGGTGGGCACTGG	0.583																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1046+1GAGG>-	17.37:g.48540911_48540914delGAGG			B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Splice_Site	DEL	-	e9-1	ENST00000300441.4	37	c.1046+4_1046+1	CCDS11567.1	17																																																																																			ACSF2	-	-	ENSG00000167107		0.583	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	29	0.00	0	GAGG	NM_025149	Frame_Shift_Del	48540911	48540914	+1	no_errors	ENST00000300441	ensembl	human	known	69_37n	splice_site_del	48	28.36	19	DEL	1.000:1.000:1.000:1.000	-
ADAM30	11085	genome.wustl.edu	37	1	120436760	120436760	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:120436760C>T	ENST00000369400.1	-	1	2358	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	734	5 X 9 AA approximate repeats.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTTAGATTCTTCCTGTTCA	0.368																																						dbGAP											0													188.0	198.0	195.0					1																	120436760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2200G>A	1.37:g.120436760C>T	ENSP00000358407:p.Glu734Lys		A8K8W8|Q5T3X6|Q9UKF1	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,prints_Blood-coag_inhib_Disintegrin	p.E734K	ENST00000369400.1	37	c.2200	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	6.760	0.509031	0.12883	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01152	5.26	1.2	-1.05	0.10036	.	8.528850	0.00843	N	0.001778	T	0.00241	0.0007	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43360	-0.9396	10	0.07325	T	0.83	.	6.2805	0.21005	0.2924:0.7076:0.0:0.0	.	734	Q9UKF2	ADA30_HUMAN	K	734	ENSP00000358407:E734K	ENSP00000358407:E734K	E	-	1	0	ADAM30	120238283	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-3.967000	0.00323	-0.463000	0.06973	0.313000	0.20887	GAA	ADAM30	-	NULL	ENSG00000134249		0.368	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	194	0.00	0	C	NM_021794		120436760	120436760	-1	no_errors	ENST00000369400	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.083	T
ALOX15B	247	genome.wustl.edu	37	17	7951170	7951170	+	Silent	SNP	T	T	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:7951170T>C	ENST00000380183.4	+	13	1927	c.1788T>C	c.(1786-1788)ccT>ccC	p.P596P	ALOX15B_ENST00000380173.2_Silent_p.P567P|ALOX15B_ENST00000572022.1_Silent_p.P584P|ALOX15B_ENST00000573359.1_Silent_p.P522P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	596	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCCTCCCACCTGTCAATGCCA	0.607																																						dbGAP											0													93.0	75.0	81.0					17																	7951170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1788T>C	17.37:g.7951170T>C			D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.P596	ENST00000380183.4	37	c.1788	CCDS11128.1	17																																																																																			ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000179593		0.607	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	37	0.00	0	T			7951170	7951170	+1	no_errors	ENST00000380183	ensembl	human	known	69_37n	silent	16	72.88	43	SNP	0.327	C
APOA1BP	128240	genome.wustl.edu	37	1	156562240	156562240	+	Silent	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:156562240G>C	ENST00000368235.3	+	3	418	c.375G>C	c.(373-375)ctG>ctC	p.L125L	APOA1BP_ENST00000368233.3_Silent_p.L125L|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Silent_p.L125L	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGATGGTCTGGTCTGTGCTC	0.582																																						dbGAP											0													140.0	135.0	137.0					1																	156562240		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.375G>C	1.37:g.156562240G>C				Silent	SNP	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	p.L125	ENST00000368235.3	37	c.375	CCDS1145.1	1																																																																																			APOA1BP	-	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	ENSG00000163382		0.582	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1BP	HGNC	protein_coding	OTTHUMT00000081044.1	61	0.00	0	G	NM_144772		156562240	156562240	+1	no_errors	ENST00000368235	ensembl	human	known	69_37n	silent	188	13.36	29	SNP	1.000	C
AQR	9716	genome.wustl.edu	37	15	35202492	35202492	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr15:35202492C>T	ENST00000156471.5	-	17	1732	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	503					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCACCAAACACTACACCGCCA	0.438																																						dbGAP											0													60.0	67.0	65.0					15																	35202492		1899	4114	6013	-	-	-	SO:0001583	missense	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1507G>A	15.37:g.35202492C>T	ENSP00000156471:p.Val503Met		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.V503M	ENST00000156471.5	37	c.1507	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664832	0.47572	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94232	-3.38	5.3	5.3	0.74995	.	0.051029	0.85682	D	0.000000	D	0.92146	0.7510	M	0.75150	2.29	0.53688	D	0.999976	B	0.26602	0.154	B	0.23852	0.049	D	0.89587	0.3825	10	0.45353	T	0.12	-16.7088	13.4288	0.61042	0.0:0.9255:0.0:0.0745	.	503	O60306	AQR_HUMAN	M	503	ENSP00000156471:V503M	ENSP00000156471:V503M	V	-	1	0	AQR	32989784	1.000000	0.71417	0.963000	0.40424	0.663000	0.39108	4.718000	0.61930	2.765000	0.95021	0.650000	0.86243	GTG	AQR	-	NULL	ENSG00000021776		0.438	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	48	0.00	0	C	NM_014691		35202492	35202492	-1	no_errors	ENST00000156471	ensembl	human	known	69_37n	missense	11	59.26	16	SNP	0.998	T
ARHGEF16	27237	genome.wustl.edu	37	1	3397018	3397018	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:3397018T>C	ENST00000378378.4	+	15	2402	c.1997T>C	c.(1996-1998)cTc>cCc	p.L666P	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.L378P|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.L370P|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.L378P	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	666	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCAGGGTGGCTCTATGGCGAG	0.682																																						dbGAP											0													42.0	41.0	42.0					1																	3397018		2202	4292	6494	-	-	-	SO:0001583	missense	0			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1997T>C	1.37:g.3397018T>C	ENSP00000367629:p.Leu666Pro		Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L666P	ENST00000378378.4	37	c.1997	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480103	0.26598	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.06	5.06	0.68205	Src homology-3 domain (4);	0.619497	0.17198	N	0.183233	T	0.52901	0.1763	M	0.90198	3.095	0.21020	N	0.999809	P;P	0.46578	0.88;0.88	P;P	0.56163	0.793;0.696	T	0.56637	-0.7946	10	0.72032	D	0.01	-10.083	5.6404	0.17561	0.2555:0.0:0.158:0.5865	.	370;666	B4DJM7;Q5VV41	.;ARHGG_HUMAN	P	666;378;378;370	ENSP00000367629:L666P;ENSP00000367624:L378P;ENSP00000367622:L378P;ENSP00000408887:L370P	ENSP00000367622:L378P	L	+	2	0	ARHGEF16	3386878	0.478000	0.25917	0.006000	0.13384	0.030000	0.12068	2.513000	0.45494	1.910000	0.55303	0.379000	0.24179	CTC	ARHGEF16	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000130762		0.682	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	14	0.00	0	T	NM_014448		3397018	3397018	+1	no_errors	ENST00000378378	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.003	C
ATG4D	84971	genome.wustl.edu	37	19	10659646	10659646	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:10659646T>G	ENST00000309469.4	+	6	1075	c.902T>G	c.(901-903)gTc>gGc	p.V301G	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	301					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AAGTCTGTGGTCATCCTGGTG	0.617																																						dbGAP											0													116.0	87.0	97.0					19																	10659646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.902T>G	19.37:g.10659646T>G	ENSP00000311318:p.Val301Gly		Q969K0	Missense_Mutation	SNP	pfam_Peptidase_C54	p.V301G	ENST00000309469.4	37	c.902	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748378	0.89663	.	.	ENSG00000130734	ENST00000309469	T	0.47177	0.85	5.56	5.56	0.83823	.	0.104296	0.64402	D	0.000006	T	0.62429	0.2427	M	0.70595	2.14	0.80722	D	1	P;P	0.48407	0.91;0.91	P;P	0.55161	0.703;0.77	T	0.65726	-0.6098	10	0.59425	D	0.04	-9.1174	14.6739	0.68964	0.0:0.0:0.0:1.0	.	238;301	B4DGM8;Q86TL0	.;ATG4D_HUMAN	G	301	ENSP00000311318:V301G	ENSP00000311318:V301G	V	+	2	0	ATG4D	10520646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.225000	0.78051	2.121000	0.65114	0.448000	0.29417	GTC	ATG4D	-	pfam_Peptidase_C54	ENSG00000130734		0.617	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4D	HGNC	protein_coding	OTTHUMT00000452022.1	54	0.00	0	T	NM_032885		10659646	10659646	+1	no_errors	ENST00000309469	ensembl	human	known	69_37n	missense	112	31.93	53	SNP	1.000	G
ASF1B	55723	genome.wustl.edu	37	19	14247177	14247177	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:14247177C>G	ENST00000263382.3	-	1	591	c.92G>C	c.(91-93)aGt>aCt	p.S31T	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.S31T|ASF1B_ENST00000474890.1_Missense_Mutation_p.S31T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	31	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGGGCTTCACTGCACTCGAA	0.687																																						dbGAP											0													47.0	44.0	45.0					19																	14247177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.92G>C	19.37:g.14247177C>G	ENSP00000263382:p.Ser31Thr		Q53G51|Q9NVZ0	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.S31T	ENST00000263382.3	37	c.92	CCDS12306.1	19	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669450	0.47677	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.19	-6.53	0.01866	.	0.406322	0.30219	N	0.010121	T	0.11623	0.0283	N	0.01874	-0.695	0.18873	N	0.999985	B	0.12013	0.005	B	0.13407	0.009	T	0.14200	-1.0481	9	0.48119	T	0.1	.	11.7285	0.51722	0.1278:0.7082:0.0:0.1639	.	31	Q9NVP2	ASF1B_HUMAN	T	31	.	ENSP00000263382:S31T	S	-	2	0	ASF1B	14108177	0.003000	0.15002	0.162000	0.22713	0.975000	0.68041	-1.286000	0.02788	-1.305000	0.02327	0.298000	0.19748	AGT	ASF1B	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	ENSG00000105011		0.687	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1B	HGNC	protein_coding	OTTHUMT00000317946.1	25	0.00	0	C	NM_018154		14247177	14247177	-1	no_errors	ENST00000263382	ensembl	human	known	69_37n	missense	30	26.19	11	SNP	0.078	G
ATR	545	genome.wustl.edu	37	3	142285029	142285029	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr3:142285029T>G	ENST00000350721.4	-	3	347	c.226A>C	c.(226-228)Atg>Ctg	p.M76L	ATR_ENST00000383101.3_Missense_Mutation_p.M76L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	76					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)			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						GAGGATTTCATGATATGCTGG	0.393								Other conserved DNA damage response genes																														dbGAP											0													108.0	101.0	103.0					3																	142285029		2203	4300	6503	-	-	-	SO:0001583	missense	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.226A>C	3.37:g.142285029T>G	ENSP00000343741:p.Met76Leu		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	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.M76L	ENST00000350721.4	37	c.226	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447816	0.84101	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.28666	1.6;1.6	5.53	5.53	0.82687	.	0.099296	0.64402	D	0.000002	T	0.32436	0.0829	L	0.57536	1.79	0.30072	N	0.809948	B	0.23442	0.085	B	0.14023	0.01	T	0.26326	-1.0106	10	0.48119	T	0.1	-19.661	15.3204	0.74117	0.0:0.0:0.0:1.0	.	76	Q13535	ATR_HUMAN	L	76	ENSP00000343741:M76L;ENSP00000372581:M76L	ENSP00000343741:M76L	M	-	1	0	ATR	143767719	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.067000	0.57527	2.096000	0.63516	0.460000	0.39030	ATG	ATR	-	NULL	ENSG00000175054		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	30	0.00	0	T	NM_001184		142285029	142285029	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	1.000	G
ATRN	8455	genome.wustl.edu	37	20	3553410	3553410	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr20:3553410T>C	ENST00000262919.5	+	12	1972	c.1904T>C	c.(1903-1905)cTc>cCc	p.L635P	ATRN_ENST00000446916.2_Missense_Mutation_p.L635P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	635					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCAATAGTCTCCTCCTCAGC	0.458																																						dbGAP											0													144.0	114.0	124.0					20																	3553410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1904T>C	20.37:g.3553410T>C	ENSP00000262919:p.Leu635Pro		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.L635P	ENST00000262919.5	37	c.1904	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396905	0.62177	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.66995	3.39;-0.24	5.76	5.76	0.90799	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.68593	2.085	0.80722	D	1	B;D	0.89917	0.027;1.0	B;D	0.72338	0.014;0.977	T	0.78135	-0.2322	10	0.35671	T	0.21	-14.8997	16.0414	0.80687	0.0:0.0:0.0:1.0	.	635;635	O75882;O75882-2	ATRN_HUMAN;.	P	635;635;561	ENSP00000262919:L635P;ENSP00000416587:L635P	ENSP00000262919:L635P	L	+	2	0	ATRN	3501410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.965000	0.87945	2.327000	0.79052	0.533000	0.62120	CTC	ATRN	-	NULL	ENSG00000088812		0.458	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	54	0.00	0	T	NM_139321		3553410	3553410	+1	no_errors	ENST00000262919	ensembl	human	known	69_37n	missense	19	62.00	31	SNP	1.000	C
BRSK2	9024	genome.wustl.edu	37	11	1459590	1459590	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:1459590C>A	ENST00000528841.1	+	3	625	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	BRSK2_ENST00000526678.1_Missense_Mutation_p.L81M|BRSK2_ENST00000308219.9_Missense_Mutation_p.L81M|BRSK2_ENST00000308230.5_Missense_Mutation_p.L81M|BRSK2_ENST00000531197.1_Missense_Mutation_p.L81M|BRSK2_ENST00000382179.1_Missense_Mutation_p.L127M|BRSK2_ENST00000528710.1_Missense_Mutation_p.L21M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGTCCTAAAGCTGCACGACGT	0.567																																						dbGAP											0													117.0	126.0	123.0					11																	1459590		2187	4291	6478	-	-	-	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.241C>A	11.37:g.1459590C>A	ENSP00000432000:p.Leu81Met		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L127M	ENST00000528841.1	37	c.379	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412146	0.62511	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.200999	0.33127	U	0.005244	T	0.49813	0.1579	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.992;0.997;0.987	D;D;D;D;D	0.87578	0.976;0.998;0.937;0.975;0.969	T	0.50457	-0.8826	10	0.87932	D	0	.	6.8039	0.23766	0.0:0.8573:0.0:0.1427	.	81;127;81;81;81	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	M	81;81;81;81;81;21;21;21;127	ENSP00000310697:L81M;ENSP00000431152:L81M;ENSP00000310805:L81M;ENSP00000432000:L81M;ENSP00000433370:L81M;ENSP00000434075:L21M;ENSP00000432672:L21M;ENSP00000433235:L21M;ENSP00000371614:L127M	ENSP00000310697:L81M	L	+	1	2	BRSK2	1416166	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.912000	0.39946	1.455000	0.47813	0.313000	0.20887	CTG	BRSK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000174672		0.567	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	32	0.00	0	C	NM_003957		1459590	1459590	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	missense	15	59.46	22	SNP	1.000	A
CFAP61	26074	genome.wustl.edu	37	20	20278908	20278908	+	Silent	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr20:20278908C>A	ENST00000245957.5	+	25	3376	c.3300C>A	c.(3298-3300)atC>atA	p.I1100I	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1100										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)		TGGAAACCATCACGTGCCTTT	0.493																																						dbGAP											0													82.0	76.0	78.0					20																	20278908		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000245957.5:c.3300C>A	20.37:g.20278908C>A			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.I1100	ENST00000245957.5	37	c.3300	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.493	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	32	0.00	0	C			20278908	20278908	+1	no_errors	ENST00000245957	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	1.000	A
CARD8	22900	genome.wustl.edu	37	19	48715054	48715054	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:48715054T>A	ENST00000359009.4	-	10	1521	c.1209A>T	c.(1207-1209)aaA>aaT	p.K403N	CARD8_ENST00000357778.5_Intron|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.K459N|CARD8_ENST00000520753.1_3'UTR|CARD8_ENST00000519940.1_Missense_Mutation_p.K509N|CARD8_ENST00000391898.3_Missense_Mutation_p.K509N|CTC-453G23.8_ENST00000595201.1_RNA|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.K459N|CARD8_ENST00000447740.2_Missense_Mutation_p.K459N			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	403	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCAGGTCCCCTTTCTTCTCCA	0.483																																						dbGAP											0													279.0	263.0	269.0					19																	48715054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1209A>T	19.37:g.48715054T>A	ENSP00000351901:p.Lys403Asn		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.K509N	ENST00000359009.4	37	c.1527		19	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434444	0.43224	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520153;ENST00000521613;ENST00000519940	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	2.01	2.01	0.26516	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.46092	0.1375	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.991;0.995	T	0.14727	-1.0462	9	0.41790	T	0.15	.	6.0453	0.19755	0.0:0.0:0.0:1.0	.	428;509;459;403	B5KVR7;E9PEM7;G3XAM9;Q9Y2G2	.;.;.;CARD8_HUMAN	N	459;509;403;459;459;509	ENSP00000391248:K459N;ENSP00000375767:K509N;ENSP00000351901:K403N;ENSP00000428736:K459N;ENSP00000427858:K459N;ENSP00000428883:K509N	ENSP00000351901:K403N	K	-	3	2	CARD8	53406866	0.392000	0.25229	0.066000	0.19879	0.539000	0.34962	0.141000	0.16076	1.177000	0.42855	0.482000	0.46254	AAA	CARD8	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000105483		0.483	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		79	0.00	0	T	NM_014959		48715054	48715054	-1	no_errors	ENST00000391898	ensembl	human	known	69_37n	missense	141	34.11	73	SNP	0.083	A
CATSPER3	347732	genome.wustl.edu	37	5	134346079	134346079	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr5:134346079C>T	ENST00000282611.6	+	7	1039	c.953C>T	c.(952-954)aCa>aTa	p.T318I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	318					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGACTGCACAAGTTTCAGT	0.488																																						dbGAP											0													122.0	114.0	117.0					5																	134346079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.953C>T	5.37:g.134346079C>T	ENSP00000282611:p.Thr318Ile		Q86XS6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.T318I	ENST00000282611.6	37	c.953	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	C	5.992	0.367021	0.11352	.	.	ENSG00000152705	ENST00000282611	D	0.97016	-4.21	4.68	-2.09	0.07232	.	0.680414	0.14019	N	0.346952	D	0.86569	0.5964	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76942	-0.2772	10	0.49607	T	0.09	-2.0773	1.5317	0.02537	0.4511:0.2683:0.1521:0.1285	.	318	Q86XQ3	CTSR3_HUMAN	I	318	ENSP00000282611:T318I	ENSP00000282611:T318I	T	+	2	0	CATSPER3	134373978	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.100000	0.15231	-0.313000	0.08728	-2.306000	0.00257	ACA	CATSPER3	-	NULL	ENSG00000152705		0.488	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	49	0.00	0	C	NM_178019		134346079	134346079	+1	no_errors	ENST00000282611	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.000	T
CCDC170	80129	genome.wustl.edu	37	6	151939084	151939084	+	Silent	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:151939084G>C	ENST00000239374.7	+	11	2049	c.1950G>C	c.(1948-1950)ctG>ctC	p.L650L	CCDC170_ENST00000367290.5_Silent_p.L657L|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	650																	TATTGCAGCTGGCAGACTTCA	0.438																																						dbGAP											0													110.0	110.0	110.0					6																	151939084		1975	4151	6126	-	-	-	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1950G>C	6.37:g.151939084G>C			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.L657	ENST00000239374.7	37	c.1971	CCDS43515.1	6																																																																																			CCDC170	-	NULL	ENSG00000120262		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	62	0.00	0	G	NM_025059		151939084	151939084	+1	no_errors	ENST00000367290	ensembl	human	known	69_37n	silent	94	21.01	25	SNP	1.000	C
CCDC82	79780	genome.wustl.edu	37	11	96104224	96104224	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:96104224G>C	ENST00000278520.5	-	6	1590	c.1162C>G	c.(1162-1164)Cgt>Ggt	p.R388G	CCDC82_ENST00000542662.1_Missense_Mutation_p.R388G|CCDC82_ENST00000423339.2_Missense_Mutation_p.R388G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	388										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTCTCTAGACGAGGCTGAACA	0.413																																						dbGAP											0													95.0	94.0	94.0					11																	96104224		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1162C>G	11.37:g.96104224G>C	ENSP00000278520:p.Arg388Gly		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	NULL	p.R388G	ENST00000278520.5	37	c.1162	CCDS8307.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273880	0.80580	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.50813	0.73;0.73;0.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.66939	2.045	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.70601	-0.4827	10	0.72032	D	0.01	-16.7139	18.2784	0.90091	0.0:0.0:1.0:0.0	.	388	Q8N4S0	CCD82_HUMAN	G	388	ENSP00000278520:R388G;ENSP00000444010:R388G;ENSP00000397156:R388G	ENSP00000278520:R388G	R	-	1	0	CCDC82	95743872	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.226000	0.72277	2.609000	0.88269	0.585000	0.79938	CGT	CCDC82	-	NULL	ENSG00000149231		0.413	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	45	0.00	0	G	NM_024725		96104224	96104224	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	C
CDCP1	64866	genome.wustl.edu	37	3	45159927	45159927	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr3:45159927A>G	ENST00000296129.1	-	2	403	c.269T>C	c.(268-270)gTc>gCc	p.V90A	CDCP1_ENST00000425231.2_Missense_Mutation_p.V90A|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	90						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GATCTCTATGACAAAGTGATT	0.383																																						dbGAP											0													101.0	102.0	102.0					3																	45159927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.269T>C	3.37:g.45159927A>G	ENSP00000296129:p.Val90Ala		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.V90A	ENST00000296129.1	37	c.269	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816530	0.90790	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.47869	1.88;0.83	5.18	4.02	0.46733	.	0.573527	0.19249	N	0.118973	T	0.61590	0.2359	M	0.65975	2.015	0.09310	N	0.999998	D;D	0.65815	0.99;0.995	P;P	0.61800	0.819;0.894	T	0.54351	-0.8307	10	0.62326	D	0.03	.	11.007	0.47639	0.9271:0.0:0.0729:0.0	.	90;90	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	A	90	ENSP00000296129:V90A;ENSP00000399342:V90A	ENSP00000296129:V90A	V	-	2	0	CDCP1	45134931	0.073000	0.21202	0.401000	0.26359	0.865000	0.49528	2.733000	0.47360	0.989000	0.38761	0.459000	0.35465	GTC	CDCP1	-	NULL	ENSG00000163814		0.383	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	51	0.00	0	A	NM_022842		45159927	45159927	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	0.226	G
CDK19	23097	genome.wustl.edu	37	6	110943369	110943369	+	Splice_Site	SNP	A	A	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:110943369A>C	ENST00000368911.3	-	11	1211	c.1032T>G	c.(1030-1032)gaT>gaG	p.D344E	CDK19_ENST00000413605.2_Splice_Site_p.D220E|CDK19_ENST00000323817.3_Splice_Site_p.D284E	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	344							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CGGCAAATACACTAAAAATCA	0.308																																						dbGAP											0													114.0	121.0	119.0					6																	110943369		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1032-1T>G	6.37:g.110943369A>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D344E	ENST00000368911.3	37	c.1032	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032190	0.54790	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.62941	0.1;-0.01;0.43	5.56	3.18	0.36537	Protein kinase-like domain (1);	0.043318	0.85682	N	0.000000	T	0.43255	0.1239	M	0.64567	1.98	0.80722	D	1	B;B	0.27679	0.076;0.185	B;B	0.29942	0.049;0.109	T	0.45396	-0.9264	10	0.59425	D	0.04	.	9.9986	0.41916	0.8626:0.0:0.1374:0.0	.	220;344	B4DUB1;Q9BWU1	.;CDK19_HUMAN	E	344;284;283;220	ENSP00000357907:D344E;ENSP00000317665:D284E;ENSP00000410604:D220E	ENSP00000317665:D284E	D	-	3	2	CDK19	111050062	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	4.832000	0.62759	0.491000	0.27793	-0.379000	0.06801	GAT	CDK19	-	superfamily_Kinase-like_dom	ENSG00000155111		0.308	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	85	0.00	0	A	NM_015076	Missense_Mutation	110943369	110943369	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	C
CEP192	55125	genome.wustl.edu	37	18	13057640	13057640	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr18:13057640G>A	ENST00000325971.8	+	18	3970	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	CEP192_ENST00000430049.2_Missense_Mutation_p.A914T|CEP192_ENST00000506447.1_Missense_Mutation_p.A1389T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	793					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCGGGATCGCTTCCCAGAC	0.507																																						dbGAP											0													162.0	131.0	142.0					18																	13057640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2377G>A	18.37:g.13057640G>A	ENSP00000317156:p.Ala793Thr		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.A1389T	ENST00000325971.8	37	c.4165		18	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585767	0.66105	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.08370	3.1;3.13;3.14	5.53	5.53	0.82687	.	0.103417	0.42682	D	0.000667	T	0.15305	0.0369	M	0.68952	2.095	0.48511	D	0.999667	D;P;D	0.56287	0.975;0.934;0.975	P;B;P	0.47915	0.483;0.367;0.561	T	0.01319	-1.1386	10	0.31617	T	0.26	-12.9376	13.7187	0.62714	0.0736:0.0:0.9264:0.0	.	914;1389;793	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	T	1389;793;793;914	ENSP00000427550:A1389T;ENSP00000317156:A793T;ENSP00000389190:A914T	ENSP00000317156:A793T	A	+	1	0	CEP192	13047640	1.000000	0.71417	0.572000	0.28498	0.197000	0.23852	6.932000	0.75869	2.591000	0.87537	0.650000	0.86243	GCT	CEP192	-	NULL	ENSG00000101639		0.507	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		67	0.00	0	G	NM_032142		13057640	13057640	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	missense	23	62.50	40	SNP	1.000	A
CGNL1	84952	genome.wustl.edu	37	15	57816868	57816868	+	Silent	SNP	C	C	G	rs145871262	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr15:57816868C>G	ENST00000281282.5	+	12	3036	c.2958C>G	c.(2956-2958)ctC>ctG	p.L986L	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	986						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGGAGCTCGCAGAAATGC	0.502																																						dbGAP											0													88.0	91.0	90.0					15																	57816868		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2958C>G	15.37:g.57816868C>G			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.L986	ENST00000281282.5	37	c.2958	CCDS10161.1	15																																																																																			CGNL1	-	NULL	ENSG00000128849		0.502	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	37	0.00	0	C	NM_032866		57816868	57816868	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	0.725	G
CHAT	1103	genome.wustl.edu	37	10	50863479	50863479	+	Silent	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:50863479T>G	ENST00000337653.2	+	13	1977	c.1824T>G	c.(1822-1824)acT>acG	p.T608T	CHAT_ENST00000351556.3_Silent_p.T490T|CHAT_ENST00000395559.2_Silent_p.T490T|CHAT_ENST00000339797.1_Silent_p.T490T|CHAT_ENST00000395562.2_Silent_p.T526T|CHAT_ENST00000455728.2_Silent_p.T490T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	608					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)	GTGCCCAGACTGCATACACAG	0.572																																						dbGAP											0													112.0	101.0	105.0					10																	50863479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1824T>G	10.37:g.50863479T>G			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	pfam_Carn_acyl_trans	p.T608	ENST00000337653.2	37	c.1824	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	26	0.00	0	T	NM_020549		50863479	50863479	+1	no_errors	ENST00000337653	ensembl	human	known	69_37n	silent	19	45.71	16	SNP	0.001	G
CLCN6	1185	genome.wustl.edu	37	1	11898845	11898845	+	Intron	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:11898845T>G	ENST00000346436.6	+	22	2581				CLCN6_ENST00000376487.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.L886R|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCAACACTAGCTTTGAAC	0.617											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2529+128T>G	1.37:g.11898845T>G		675	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.L886R	ENST00000346436.6	37	c.2657	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296701	0.23650	.	.	ENSG00000011021	ENST00000376496	D	0.92647	-3.08	2.46	-4.92	0.03075	.	501.344000	0.00166	N	0.000000	D	0.83876	0.5349	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.73962	-0.3817	6	.	.	.	.	4.685	0.12754	0.0:0.3145:0.3989:0.2866	.	.	.	.	R	886	ENSP00000365679:L886R	.	L	+	2	0	CLCN6	11821432	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.242000	0.02908	-1.278000	0.02408	0.459000	0.35465	CTA	CLCN6	-	NULL	ENSG00000011021		0.617	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	8	0.00	0	T	NM_001286		11898845	11898845	+1	no_errors	ENST00000376496	ensembl	human	novel	69_37n	missense	4	60.00	6	SNP	0.000	G
CLGN	1047	genome.wustl.edu	37	4	141317060	141317060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr4:141317060delC	ENST00000325617.5	-	10	1502	c.1062delG	c.(1060-1062)gggfs	p.G354fs	CLGN_ENST00000414773.1_Frame_Shift_Del_p.G354fs|CLGN_ENST00000537281.1_Frame_Shift_Del_p.G354fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	354					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACTCACCACACCCAATCCGAC	0.433																																						dbGAP											0													99.0	93.0	95.0					4																	141317060		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1062delG	4.37:g.141317060delC	ENSP00000326699:p.Gly354fs		B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.C355fs	ENST00000325617.5	37	c.1062	CCDS3751.1	4																																																																																			CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P	ENSG00000153132		0.433	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	53	0.00	0	C	NM_004362		141317060	141317060	-1	no_errors	ENST00000325617	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.996	-
COG3	83548	genome.wustl.edu	37	13	46103952	46103952	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr13:46103952G>A	ENST00000349995.5	+	21	2369	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	753					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TGCGGCAACTGCATATAAGAC	0.348																																					Ovarian(150;1048 1859 18083 21577 42700)	dbGAP											0													104.0	95.0	98.0					13																	46103952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.2257G>A	13.37:g.46103952G>A	ENSP00000258654:p.Ala753Thr		B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	pfam_COG_su3,superfamily_Cullin_repeat-like_dom	p.A753T	ENST00000349995.5	37	c.2257	CCDS9398.1	13	.	.	.	.	.	.	.	.	.	.	G	1.128	-0.653142	0.03480	.	.	ENSG00000136152	ENST00000349995	D	0.91740	-2.9	5.19	5.19	0.71726	.	0.150338	0.64402	D	0.000017	T	0.74512	0.3726	N	0.01410	-0.885	0.40149	D	0.976923	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.71094	-0.4692	10	0.14252	T	0.57	-0.9019	7.583	0.27976	0.1815:0.0:0.8185:0.0	.	590;753	B4E2F3;Q96JB2	.;COG3_HUMAN	T	753	ENSP00000258654:A753T	ENSP00000258654:A753T	A	+	1	0	COG3	45001953	1.000000	0.71417	0.984000	0.44739	0.297000	0.27493	7.236000	0.78154	2.424000	0.82194	0.557000	0.71058	GCA	COG3	-	NULL	ENSG00000136152		0.348	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG3	HGNC	protein_coding	OTTHUMT00000044777.2	43	0.00	0	G			46103952	46103952	+1	no_errors	ENST00000349995	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
CPNE5	57699	genome.wustl.edu	37	6	36710197	36710197	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:36710197G>C	ENST00000244751.2	-	21	2254	c.1630C>G	c.(1630-1632)Cga>Gga	p.R544G	CPNE5_ENST00000393189.2_Missense_Mutation_p.R252G|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	544	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R544R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCACGTCTCGGGCCAGGCGG	0.657																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											119.0	103.0	108.0					6																	36710197		2203	4300	6503	-	-	-	SO:0001583	missense	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1630C>G	6.37:g.36710197G>C	ENSP00000244751:p.Arg544Gly		Q7Z6C8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.R544G	ENST00000244751.2	37	c.1630	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167344	0.57476	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12147	3.47;2.71	4.87	3.86	0.44501	von Willebrand factor, type A (1);	0.058571	0.64402	D	0.000005	T	0.07818	0.0196	L	0.52905	1.665	0.39145	D	0.962113	B	0.31548	0.328	B	0.33690	0.168	T	0.03818	-1.1001	10	0.87932	D	0	.	9.5416	0.39255	0.0:0.0:0.6505:0.3495	.	544	Q9HCH3	CPNE5_HUMAN	G	544;252	ENSP00000244751:R544G;ENSP00000376885:R252G	ENSP00000244751:R544G	R	-	1	2	CPNE5	36818175	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.424000	0.59868	2.429000	0.82318	0.491000	0.48974	CGA	CPNE5	-	pfscan_VWF_A	ENSG00000124772		0.657	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	25	0.00	0	G	NM_020939		36710197	36710197	-1	no_errors	ENST00000244751	ensembl	human	known	69_37n	missense	123	19.08	29	SNP	1.000	C
CRNN	49860	genome.wustl.edu	37	1	152382842	152382842	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:152382842G>T	ENST00000271835.3	-	3	778	c.716C>A	c.(715-717)aCc>aAc	p.T239N	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	239	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGTCTGGGTGGCACCTGC	0.592																																						dbGAP											0													248.0	251.0	250.0					1																	152382842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.716C>A	1.37:g.152382842G>T	ENSP00000271835:p.Thr239Asn		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T239N	ENST00000271835.3	37	c.716	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989329	0.18966	.	.	ENSG00000143536	ENST00000271835	T	0.04406	3.63	3.92	2.05	0.26809	.	0.346611	0.24947	N	0.034329	T	0.01156	0.0038	L	0.39147	1.195	0.09310	N	1	P	0.38535	0.635	B	0.30495	0.116	T	0.49360	-0.8948	10	0.42905	T	0.14	.	5.9801	0.19403	0.2402:0.0:0.7598:0.0	.	239	Q9UBG3	CRNN_HUMAN	N	239	ENSP00000271835:T239N	ENSP00000271835:T239N	T	-	2	0	CRNN	150649466	0.936000	0.31750	0.021000	0.16686	0.007000	0.05969	0.406000	0.21032	0.332000	0.23536	-0.225000	0.12378	ACC	CRNN	-	NULL	ENSG00000143536		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	155	0.00	0	G	NM_016190		152382842	152382842	-1	no_errors	ENST00000271835	ensembl	human	known	69_37n	missense	330	19.51	80	SNP	0.090	T
CRP	1401	genome.wustl.edu	37	1	159683842	159683842	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:159683842C>A	ENST00000255030.5	-	2	251	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.A50S|CRP_ENST00000368112.1_Missense_Mutation_p.A50S|CRP_ENST00000368110.1_Missense_Mutation_p.A50S|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000343919.2_Missense_Mutation_p.A50S	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	50	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	ACAGTGAAGGCTTTGAGAGGC	0.478																																						dbGAP											0													124.0	125.0	124.0					1																	159683842		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.148G>T	1.37:g.159683842C>A	ENSP00000255030:p.Ala50Ser		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.A50S	ENST00000255030.5	37	c.148	CCDS30911.1	1	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136930	0.21123	.	.	ENSG00000132693	ENST00000255030;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T	0.62364	0.34;0.03;0.03;0.03;0.03	5.13	2.1	0.27182	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.432357	0.24102	N	0.041531	T	0.26702	0.0653	L	0.54323	1.7	0.36840	D	0.887339	P;B	0.40431	0.717;0.014	B;B	0.33454	0.164;0.101	T	0.07177	-1.0786	10	0.20519	T	0.43	-13.7059	3.4794	0.07597	0.1808:0.5491:0.0:0.2701	.	50;50	P02741-2;P02741	.;CRP_HUMAN	S	50	ENSP00000255030:A50S;ENSP00000357093:A50S;ENSP00000357092:A50S;ENSP00000357091:A50S;ENSP00000340882:A50S	ENSP00000255030:A50S	A	-	1	0	CRP	157950466	0.135000	0.22499	0.432000	0.26747	0.933000	0.57130	0.544000	0.23253	0.484000	0.27630	0.655000	0.94253	GCC	CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	ENSG00000132693		0.478	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1	46	0.00	0	C	NM_000567		159683842	159683842	-1	no_errors	ENST00000255030	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	0.386	A
CSRNP3	80034	genome.wustl.edu	37	2	166535903	166535903	+	Silent	SNP	G	G	C	rs147846034	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr2:166535903G>C	ENST00000342316.4	+	5	1670	c.1398G>C	c.(1396-1398)tcG>tcC	p.S466S	CSRNP3_ENST00000409420.1_Silent_p.S498S|CSRNP3_ENST00000314499.7_Silent_p.S466S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	466					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						GTACCCTTTCGCTGGTGCCTT	0.493																																						dbGAP											0													73.0	72.0	72.0					2																	166535903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1398G>C	2.37:g.166535903G>C			B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.S466	ENST00000342316.4	37	c.1398	CCDS2225.1	2																																																																																			CSRNP3	-	NULL	ENSG00000178662		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	31	0.00	0	G	NM_024969		166535903	166535903	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	silent	28	37.78	17	SNP	1.000	C
CYB561	1534	genome.wustl.edu	37	17	61511891	61511891	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:61511891A>T	ENST00000392976.1	-	6	927	c.628T>A	c.(628-630)Tgc>Agc	p.C210S	CYB561_ENST00000392975.2_Missense_Mutation_p.C210S|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.C210S|CYB561_ENST00000582034.1_Missense_Mutation_p.C181S|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.C210S|CYB561_ENST00000582997.1_Missense_Mutation_p.C217S|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000542042.1_Missense_Mutation_p.C277S	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	210	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCACCGAAGCAGGCCAGCAGC	0.647																																						dbGAP											0													48.0	48.0	48.0					17																	61511891		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.628T>A	17.37:g.61511891A>T	ENSP00000376702:p.Cys210Ser		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.C210S	ENST00000392976.1	37	c.628	CCDS11636.1	17	.	.	.	.	.	.	.	.	.	.	A	6.633	0.485183	0.12641	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000542042	T;T;T;T	0.63255	-0.0;-0.0;-0.0;-0.03	4.98	-5.36	0.02689	Cytochrome b561/ferric reductase transmembrane (1);	0.779557	0.12798	N	0.438237	T	0.39545	0.1082	N	0.17082	0.46	0.27306	N	0.957443	B;B	0.12013	0.005;0.001	B;B	0.12837	0.008;0.002	T	0.11421	-1.0588	10	0.33141	T	0.24	-6.8783	11.3737	0.49715	0.1362:0.6356:0.0:0.2281	.	277;210	F5H757;P49447	.;CY561_HUMAN	S	210;210;210;277	ENSP00000354028:C210S;ENSP00000376702:C210S;ENSP00000376701:C210S;ENSP00000442773:C277S	ENSP00000354028:C210S	C	-	1	0	CYB561	58865623	0.273000	0.24181	0.019000	0.16419	0.171000	0.22731	0.106000	0.15354	-1.367000	0.02152	0.459000	0.35465	TGC	CYB561	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000008283		0.647	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561	HGNC	protein_coding	OTTHUMT00000444843.1	27	0.00	0	A	NM_001915		61511891	61511891	-1	no_errors	ENST00000360793	ensembl	human	known	69_37n	missense	33	42.11	24	SNP	0.080	T
CYFIP2	26999	genome.wustl.edu	37	5	156752564	156752564	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr5:156752564C>G	ENST00000521420.1	+	16	1913	c.1822C>G	c.(1822-1824)Cga>Gga	p.R608G	CYFIP2_ENST00000435847.2_Missense_Mutation_p.R333G|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R634G|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R659G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R559G|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R438G|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R634G|CYFIP2_ENST00000520960.1_3'UTR					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)			CATGGGCCGACGAATCCAGTT	0.517																																						dbGAP											0													70.0	71.0	70.0					5																	156752564		2077	4250	6327	-	-	-	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		ENST00000521420.1:c.1822C>G	5.37:g.156752564C>G	ENSP00000430904:p.Arg608Gly			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R659G	ENST00000521420.1	37	c.1975		5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344984	0.82022	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.85197	2.74	0.80722	D	1	D;D;D;P;D;P	0.65815	0.961;0.962;0.995;0.911;0.99;0.933	P;P;D;P;P;P	0.65233	0.828;0.908;0.933;0.488;0.884;0.871	T	0.58188	-0.7680	10	0.46703	T	0.11	-9.7475	19.6809	0.95962	0.0:1.0:0.0:0.0	.	498;438;608;634;634;659	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	G	659;438;608;634;634;559;333	ENSP00000325817:R659G;ENSP00000428009:R438G;ENSP00000430904:R608G;ENSP00000313567:R634G;ENSP00000366799:R634G;ENSP00000444645:R559G;ENSP00000403793:R333G	ENSP00000325817:R659G	R	+	1	2	CYFIP2	156685142	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.265000	0.43311	2.644000	0.89710	0.655000	0.94253	CGA	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.517	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	79	0.00	0	C	NM_001037332		156752564	156752564	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	missense	31	59.21	45	SNP	1.000	G
DZIP1L	199221	genome.wustl.edu	37	3	137781680	137781680	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr3:137781680T>A	ENST00000327532.2	-	16	2644	c.2282A>T	c.(2281-2283)cAa>cTa	p.Q761L		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	761					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						GACCCTGGGTTGGCCAGAGCT	0.582																																						dbGAP											0													77.0	80.0	79.0					3																	137781680		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.2282A>T	3.37:g.137781680T>A	ENSP00000332148:p.Gln761Leu		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.Q761L	ENST00000327532.2	37	c.2282	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	T	3.491	-0.103846	0.06967	.	.	ENSG00000158163	ENST00000327532	T	0.10573	2.86	4.42	-0.148	0.13424	.	1.769670	0.03518	N	0.220556	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.37641	-0.9697	10	0.44086	T	0.13	2.6051	7.0882	0.25270	0.0:0.4268:0.0:0.5732	.	761	Q8IYY4	DZI1L_HUMAN	L	761	ENSP00000332148:Q761L	ENSP00000332148:Q761L	Q	-	2	0	DZIP1L	139264370	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.078000	0.03413	-0.310000	0.08766	-0.468000	0.05107	CAA	DZIP1L	-	NULL	ENSG00000158163		0.582	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	46	0.00	0	T	NM_173543		137781680	137781680	-1	no_errors	ENST00000327532	ensembl	human	known	69_37n	missense	60	30.23	26	SNP	0.000	A
EMR1	2015	genome.wustl.edu	37	19	6926467	6926467	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:6926467A>G	ENST00000312053.4	+	16	2114	c.2077A>G	c.(2077-2079)Atg>Gtg	p.M693V	EMR1_ENST00000250572.8_Missense_Mutation_p.M628V|EMR1_ENST00000381404.4_Missense_Mutation_p.M641V|EMR1_ENST00000381407.5_Missense_Mutation_p.M552V|EMR1_ENST00000450315.3_Missense_Mutation_p.M516V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	693					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTGTTCTTGATGGTCAGAAA	0.537																																						dbGAP											0													206.0	181.0	190.0					19																	6926467		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2077A>G	19.37:g.6926467A>G	ENSP00000311545:p.Met693Val		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.M693V	ENST00000312053.4	37	c.2077	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	a	14.86	2.662219	0.47572	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.18	4.18	0.49190	GPCR, family 2-like (1);	.	.	.	.	T	0.37183	0.0994	L	0.60455	1.87	0.28449	N	0.916435	B;P;B;P;P	0.40000	0.329;0.698;0.4;0.515;0.454	B;B;B;B;B	0.41412	0.122;0.338;0.121;0.356;0.192	T	0.17745	-1.0359	9	0.29301	T	0.29	.	11.1938	0.48700	1.0:0.0:0.0:0.0	.	516;552;628;641;693	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	V	628;693;641;628;552;516	ENSP00000311545:M693V;ENSP00000370811:M641V;ENSP00000250572:M628V;ENSP00000370814:M552V;ENSP00000405974:M516V	ENSP00000250572:M628V	M	+	1	0	EMR1	6877467	0.960000	0.32886	0.261000	0.24466	0.852000	0.48524	5.372000	0.66156	1.521000	0.48983	0.477000	0.44152	ATG	EMR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000174837		0.537	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	109	0.00	0	A			6926467	6926467	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	missense	121	42.92	91	SNP	0.963	G
ENPP2	5168	genome.wustl.edu	37	8	120596251	120596251	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr8:120596251C>A	ENST00000075322.6	-	16	1464	c.1406G>T	c.(1405-1407)tGc>tTc	p.C469F	ENPP2_ENST00000522826.1_Missense_Mutation_p.C469F|ENPP2_ENST00000427067.2_Missense_Mutation_p.C465F|ENPP2_ENST00000259486.6_Missense_Mutation_p.C521F|ENPP2_ENST00000522167.1_Missense_Mutation_p.C108F	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	469					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGAAAAAGCATTTTCCTGA	0.338																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													190.0	190.0	190.0					8																	120596251		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1406G>T	8.37:g.120596251C>A	ENSP00000075322:p.Cys469Phe		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	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,prints_Somatomedin_B_chordata	p.C521F	ENST00000075322.6	37	c.1562	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644595	0.67358	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.74	5.74	0.90152	Alkaline-phosphatase-like, core domain (1);	0.270561	0.43919	D	0.000509	D	0.82458	0.5041	M	0.67953	2.075	0.80722	D	1	P;D;D;D	0.89917	0.933;1.0;0.999;1.0	D;D;D;D	0.97110	0.939;1.0;0.991;1.0	T	0.76484	-0.2942	10	0.15066	T	0.55	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	469;469;521;108	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	F	521;465;108;469;469	ENSP00000259486:C521F;ENSP00000403315:C465F;ENSP00000429476:C108F;ENSP00000428291:C469F;ENSP00000075322:C469F	ENSP00000075322:C469F	C	-	2	0	ENPP2	120665432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.304000	0.78882	2.683000	0.91414	0.655000	0.94253	TGC	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.338	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	72	0.00	0	C			120596251	120596251	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	1.000	A
ENPP5	59084	genome.wustl.edu	37	6	46135385	46135385	+	Silent	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:46135385C>A	ENST00000371383.2	-	3	875	c.615G>T	c.(613-615)ggG>ggT	p.G205G	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Silent_p.G205G					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAATGACAGGCCCCATGAGCG	0.433																																						dbGAP											0													72.0	69.0	70.0					6																	46135385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.615G>T	6.37:g.46135385C>A				Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G205	ENST00000371383.2	37	c.615	CCDS4915.1	6																																																																																			ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.433	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	22	0.00	0	C			46135385	46135385	-1	no_errors	ENST00000230565	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	0.027	A
ESRRG	2104	genome.wustl.edu	37	1	216850481	216850481	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:216850481C>A	ENST00000408911.3	-	2	562	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	ESRRG_ENST00000493748.1_Missense_Mutation_p.G114W|ESRRG_ENST00000360012.3_Missense_Mutation_p.G114W|ESRRG_ENST00000361525.3_Missense_Mutation_p.G114W|ESRRG_ENST00000361395.2_Missense_Mutation_p.G114W|ESRRG_ENST00000463665.1_Missense_Mutation_p.G114W|ESRRG_ENST00000366937.1_Missense_Mutation_p.G142W|ESRRG_ENST00000391890.3_Missense_Mutation_p.G114W|ESRRG_ENST00000359162.2_Missense_Mutation_p.G114W|ESRRG_ENST00000366940.2_Missense_Mutation_p.G114W|ESRRG_ENST00000493603.1_Missense_Mutation_p.G114W|ESRRG_ENST00000487276.1_Missense_Mutation_p.G114W|ESRRG_ENST00000366938.2_Missense_Mutation_p.G114W	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	137					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TAGTGGTACCCAGAAGCGATG	0.498																																						dbGAP											0													168.0	147.0	154.0					1																	216850481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.409G>T	1.37:g.216850481C>A	ENSP00000386171:p.Gly137Trp		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G137W	ENST00000408911.3	37	c.409	CCDS41468.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010670	0.93346	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	6.01	6.01	0.97437	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.97587	4.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98111	1.0420	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	114;142;137	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	W	114;114;142;137;114;114;114;114;114;114;114;114;114;114;114	ENSP00000355225:G114W;ENSP00000355907:G114W;ENSP00000355904:G142W;ENSP00000386171:G137W;ENSP00000352077:G114W;ENSP00000354584:G114W;ENSP00000355905:G114W;ENSP00000353108:G114W;ENSP00000419594:G114W;ENSP00000375761:G114W;ENSP00000418629:G114W;ENSP00000419155:G114W;ENSP00000417374:G114W;ENSP00000419514:G114W	ENSP00000346386:G114W	G	-	1	0	ESRRG	214917104	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	GGG	ESRRG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000196482		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	44	0.00	0	C	NM_206595		216850481	216850481	-1	no_errors	ENST00000408911	ensembl	human	known	69_37n	missense	45	45.78	38	SNP	1.000	A
FAM160B1	57700	genome.wustl.edu	37	10	116595973	116595973	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:116595973C>G	ENST00000369248.4	+	5	825	c.490C>G	c.(490-492)Cag>Gag	p.Q164E	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q164E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	164										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GAAGCTGAAACAGGACCCCTA	0.343																																						dbGAP											0													195.0	208.0	203.0					10																	116595973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.490C>G	10.37:g.116595973C>G	ENSP00000358251:p.Gln164Glu		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.Q164E	ENST00000369248.4	37	c.490	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863489	0.51482	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.30714	1.52;1.52	5.22	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	M	0.63843	1.955	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.004	T	0.11817	-1.0572	10	0.13853	T	0.58	-12.4737	15.7108	0.77626	0.0:0.8625:0.1375:0.0	.	164;164	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	E	164	ENSP00000358251:Q164E;ENSP00000358253:Q164E	ENSP00000358251:Q164E	Q	+	1	0	FAM160B1	116585963	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.063000	0.71162	1.155000	0.42497	0.585000	0.79938	CAG	FAM160B1	-	pfam_RetinoicA-induced_16-like	ENSG00000151553		0.343	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	49	0.00	0	C	XM_049351		116595973	116595973	+1	no_errors	ENST00000369248	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	G
FAM83A	84985	genome.wustl.edu	37	8	124195570	124195570	+	Silent	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr8:124195570T>G	ENST00000518448.1	+	2	2488	c.474T>G	c.(472-474)acT>acG	p.T158T	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Silent_p.T158T|FAM83A_ENST00000276699.6_Silent_p.T158T|FAM83A_ENST00000522648.1_Silent_p.T158T|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Silent_p.T158T|FAM83A_ENST00000318462.6_Silent_p.T158T			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	158										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCACCCGGACTAGCCAGGTAC	0.597																																						dbGAP											0													51.0	53.0	53.0					8																	124195570		2201	4288	6489	-	-	-	SO:0001819	synonymous_variant	0			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.474T>G	8.37:g.124195570T>G			Q71HL2|Q8N7I1|Q96I47	Silent	SNP	pfam_DUF1669	p.T158	ENST00000518448.1	37	c.474	CCDS6340.1	8																																																																																			FAM83A	-	pfam_DUF1669	ENSG00000147689		0.597	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	HGNC	protein_coding	OTTHUMT00000381737.1	9	0.00	0	T	NM_032899		124195570	124195570	+1	no_errors	ENST00000318462	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.999	G
FAT3	120114	genome.wustl.edu	37	11	92577795	92577795	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:92577795G>C	ENST00000298047.6	+	18	11279	c.11262G>C	c.(11260-11262)gaG>gaC	p.E3754D	FAT3_ENST00000533797.1_Missense_Mutation_p.E89D|FAT3_ENST00000409404.2_Missense_Mutation_p.E3754D|FAT3_ENST00000525166.1_Missense_Mutation_p.E3604D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3754					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)				AGCATTGTGAGCAAGGCTTGT	0.537										TCGA Ovarian(4;0.039)																												dbGAP											0													101.0	101.0	101.0					11																	92577795		2141	4248	6389	-	-	-	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.11262G>C	11.37:g.92577795G>C	ENSP00000298047:p.Glu3754Asp		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E3754D	ENST00000298047.6	37	c.11262		11	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967954	0.34754	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.97	5.97	0.96955	.	.	.	.	.	T	0.53834	0.1821	L	0.33339	1.005	0.80722	D	1	D;B	0.76494	0.999;0.005	D;B	0.81914	0.995;0.028	T	0.31971	-0.9924	9	0.12766	T	0.61	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	3754;3754	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	3754;3754;3604;89	ENSP00000298047:E3754D;ENSP00000387040:E3754D;ENSP00000432586:E3604D;ENSP00000436399:E89D	ENSP00000298047:E3754D	E	+	3	2	FAT3	92217443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.737000	0.38197	2.828000	0.97474	0.655000	0.94253	GAG	FAT3	-	NULL	ENSG00000165323		0.537	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		73	0.00	0	G	NM_001008781		92577795	92577795	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	46	72.94	124	SNP	1.000	C
FGD2	221472	genome.wustl.edu	37	6	36982782	36982782	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:36982782C>T	ENST00000274963.8	+	8	1168	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	333	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R333C(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTCCTTCCGCCGCAACGACCC	0.632																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											67.0	56.0	60.0					6																	36982782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.997C>T	6.37:g.36982782C>T	ENSP00000274963:p.Arg333Cys		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R333C	ENST00000274963.8	37	c.997	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025630	0.75390	.	.	ENSG00000146192	ENST00000274963	T	0.77358	-1.09	4.42	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.143671	0.32593	N	0.005888	T	0.66257	0.2771	N	0.08118	0	0.50039	D	0.999846	D	0.76494	0.999	P	0.60609	0.877	T	0.76266	-0.3022	10	0.87932	D	0	0.0021	13.0404	0.58895	0.1614:0.8386:0.0:0.0	.	333	Q7Z6J4	FGD2_HUMAN	C	333	ENSP00000274963:R333C	ENSP00000274963:R333C	R	+	1	0	FGD2	37090760	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.822000	0.48073	2.296000	0.77279	0.561000	0.74099	CGC	FGD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000146192		0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	25	0.00	0	C	NM_173558		36982782	36982782	+1	no_errors	ENST00000274963	ensembl	human	known	69_37n	missense	93	18.42	21	SNP	1.000	T
FOXN1	8456	genome.wustl.edu	37	17	26862056	26862056	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:26862056G>C	ENST00000226247.2	+	7	1496	c.1467G>C	c.(1465-1467)caG>caC	p.Q489H	FOXN1_ENST00000579795.1_Missense_Mutation_p.Q489H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	489					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCACCCCCCAGGACTCGCCTC	0.692																																						dbGAP											0													34.0	34.0	34.0					17																	26862056		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1467G>C	17.37:g.26862056G>C	ENSP00000226247:p.Gln489His		B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q489H	ENST00000226247.2	37	c.1467	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175643	0.78564	.	.	ENSG00000109101	ENST00000226247	D	0.93247	-3.19	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000011	D	0.95149	0.8428	L	0.51422	1.61	0.53688	D	0.999976	D	0.67145	0.996	D	0.66847	0.947	D	0.95443	0.8527	10	0.56958	D	0.05	.	17.0535	0.86526	0.0:0.0:1.0:0.0	.	489	O15353	FOXN1_HUMAN	H	489	ENSP00000226247:Q489H	ENSP00000226247:Q489H	Q	+	3	2	FOXN1	23886183	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.450000	0.52957	2.251000	0.74343	0.561000	0.74099	CAG	FOXN1	-	NULL	ENSG00000109101		0.692	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	15	0.00	0	G			26862056	26862056	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	missense	13	55.17	16	SNP	1.000	C
GPR151	134391	genome.wustl.edu	37	5	145895299	145895299	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr5:145895299G>T	ENST00000311104.2	-	1	454	c.378C>A	c.(376-378)agC>agA	p.S126R		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGATTGTCAGGCTCTTGGCTG	0.507																																					Pancreas(78;420 1386 18535 37114 49710)	dbGAP											0													144.0	128.0	134.0					5																	145895299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.378C>A	5.37:g.145895299G>T	ENSP00000308733:p.Ser126Arg		Q86SN8|Q8NGV2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S126R	ENST00000311104.2	37	c.378	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157302	0.57259	.	.	ENSG00000173250	ENST00000311104	T	0.72394	-0.65	5.88	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.62723	1.935	0.41168	D	0.986141	D	0.89917	1.0	D	0.80764	0.994	T	0.78142	-0.2319	10	0.66056	D	0.02	.	10.2046	0.43105	0.3801:0.0:0.6199:0.0	.	126	Q8TDV0	GP151_HUMAN	R	126	ENSP00000308733:S126R	ENSP00000308733:S126R	S	-	3	2	GPR151	145875492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.011000	0.40922	0.382000	0.24878	0.655000	0.94253	AGC	GPR151	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173250		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	HGNC	protein_coding	OTTHUMT00000373457.1	77	0.00	0	G	NM_194251		145895299	145895299	-1	no_errors	ENST00000311104	ensembl	human	known	69_37n	missense	46	45.24	38	SNP	1.000	T
GRIA2	2891	genome.wustl.edu	37	4	158233956	158233956	+	Missense_Mutation	SNP	C	C	A	rs143633429		TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr4:158233956C>A	ENST00000264426.9	+	4	874	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	GRIA2_ENST00000507898.1_Missense_Mutation_p.L152M|GRIA2_ENST00000296526.7_Missense_Mutation_p.L199M|GRIA2_ENST00000393815.2_Missense_Mutation_p.L152M|GRIA2_ENST00000449365.1_Missense_Mutation_p.L152M	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	199					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	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)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	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(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTTCAAGATCTGGAGTTAAA	0.388																																						dbGAP											0													121.0	123.0	122.0					4																	158233956		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.595C>A	4.37:g.158233956C>A	ENSP00000264426:p.Leu199Met		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L199M	ENST00000264426.9	37	c.595	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462844	0.43736	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365;ENST00000503437	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.56	4.71	0.59529	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.27629	0.0679	N	0.16656	0.425	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.985;0.999	D;D;D	0.97110	1.0;0.919;0.998	T	0.03673	-1.1014	10	0.02654	T	1	.	12.1123	0.53846	0.0:0.8642:0.0:0.1358	.	199;199;152	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	M	152;152;199;199;152;72	ENSP00000426845:L152M;ENSP00000377403:L152M;ENSP00000296526:L199M;ENSP00000264426:L199M;ENSP00000389837:L152M;ENSP00000426784:L72M	ENSP00000264426:L199M	L	+	1	2	GRIA2	158453406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.106000	0.50322	2.621000	0.88768	0.563000	0.77884	CTG	GRIA2	-	pfam_ANF_lig-bd_rcpt	ENSG00000120251		0.388	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	35	0.00	0	C			158233956	158233956	+1	no_errors	ENST00000264426	ensembl	human	known	69_37n	missense	8	68.00	17	SNP	1.000	A
GSDMC	56169	genome.wustl.edu	37	8	130760832	130760832	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr8:130760832C>A	ENST00000276708.4	-	14	2323	c.1442G>T	c.(1441-1443)aGg>aTg	p.R481M		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	481						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CCAGGTTGACCTGGGGTTATC	0.592																																						dbGAP											0													115.0	103.0	107.0					8																	130760832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1442G>T	8.37:g.130760832C>A	ENSP00000276708:p.Arg481Met		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.R481M	ENST00000276708.4	37	c.1442	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375895	0.42105	.	.	ENSG00000147697	ENST00000276708	T	0.24350	1.86	4.42	-0.778	0.10977	.	0.892209	0.09710	N	0.765865	T	0.40619	0.1124	L	0.55481	1.735	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.28776	-1.0033	10	0.72032	D	0.01	.	7.512	0.27579	0.0:0.4488:0.0:0.5512	.	481	Q9BYG8	GSDMC_HUMAN	M	481	ENSP00000276708:R481M	ENSP00000276708:R481M	R	-	2	0	GSDMC	130830014	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.737000	0.00801	-0.044000	0.13491	-0.224000	0.12420	AGG	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.592	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	44	0.00	0	C			130760832	130760832	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	missense	73	29.13	30	SNP	0.000	A
HECTD1	25831	genome.wustl.edu	37	14	31582339	31582339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr14:31582339delT	ENST00000399332.1	-	34	6609	c.6121delA	c.(6121-6123)attfs	p.I2041fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.I2041fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2041	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTGTTGTAATTTTTTTGCTA	0.274																																						dbGAP											0													77.0	72.0	73.0					14																	31582339		1796	4061	5857	-	-	-	SO:0001589	frameshift_variant	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6121delA	14.37:g.31582339delT	ENSP00000382269:p.Ile2041fs		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.I2041fs	ENST00000399332.1	37	c.6121	CCDS41939.1	14																																																																																			HECTD1	-	NULL	ENSG00000092148		0.274	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	123	0.00	0	T			31582339	31582339	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
HK1	3098	genome.wustl.edu	37	10	71144575	71144575	+	Silent	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:71144575C>T	ENST00000359426.6	+	12	1847	c.1743C>T	c.(1741-1743)tgC>tgT	p.C581C	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.C585C|HK1_ENST00000448642.2_Silent_p.C616C|HK1_ENST00000360289.2_Silent_p.C569C|HK1_ENST00000298649.3_Silent_p.C580C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	581	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TTGTCTCCTGCATCTCTGACT	0.507																																						dbGAP											0													236.0	236.0	236.0					10																	71144575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1743C>T	10.37:g.71144575C>T			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.C616	ENST00000359426.6	37	c.1848	CCDS7292.1	10																																																																																			HK1	-	pfam_Hexokinase_N	ENSG00000156515		0.507	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	58	0.00	0	C	NM_000188		71144575	71144575	+1	no_errors	ENST00000448642	ensembl	human	known	69_37n	silent	24	54.72	29	SNP	1.000	T
HOOK1	51361	genome.wustl.edu	37	1	60294515	60294515	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:60294515G>C	ENST00000371208.3	+	3	470	c.213G>C	c.(211-213)tgG>tgC	p.W71C	HOOK1_ENST00000395561.2_Missense_Mutation_p.W29C|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	71	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGGACAACTGGAGAATAAAGG	0.348																																						dbGAP											0													112.0	107.0	109.0					1																	60294515		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.213G>C	1.37:g.60294515G>C	ENSP00000360252:p.Trp71Cys		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin	p.W71C	ENST00000371208.3	37	c.213	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625260	0.46840	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.25414	1.8;1.8;1.8	5.87	3.96	0.45880	.	0.366414	0.33346	N	0.005001	T	0.35913	0.0948	M	0.84773	2.715	0.80722	D	1	B	0.19706	0.038	B	0.34418	0.182	T	0.23691	-1.0181	10	0.62326	D	0.03	.	6.4249	0.21764	0.1516:0.0:0.6996:0.1489	.	71	Q9UJC3	HOOK1_HUMAN	C	71;71;29	ENSP00000398860:W71C;ENSP00000360252:W71C;ENSP00000378928:W29C	ENSP00000360252:W71C	W	+	3	0	HOOK1	60067103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.255000	0.65462	0.786000	0.33708	0.591000	0.81541	TGG	HOOK1	-	pfam_HOOK	ENSG00000134709		0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	57	0.00	0	G	NM_015888		60294515	60294515	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	C
HORMAD2	150280	genome.wustl.edu	37	22	30499480	30499480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:30499480delT	ENST00000336726.6	+	4	603	c.248delT	c.(247-249)attfs	p.I84fs	HORMAD2_ENST00000403975.1_Frame_Shift_Del_p.I84fs	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	84	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TCACTGCATATTATCAGATGG	0.299																																						dbGAP											0													37.0	34.0	35.0					22																	30499480		1775	4016	5791	-	-	-	SO:0001589	frameshift_variant	0			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.248delT	22.37:g.30499480delT	ENSP00000336984:p.Ile84fs		B5MEB2|Q8NHR2	Frame_Shift_Del	DEL	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.I84fs	ENST00000336726.6	37	c.248	CCDS46683.1	22																																																																																			HORMAD2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000176635		0.299	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	37	0.00	0	T	NM_152510		30499480	30499480	+1	no_errors	ENST00000336726	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
HS3ST4	9951	genome.wustl.edu	37	16	26147267	26147267	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr16:26147267G>C	ENST00000331351.5	+	2	1461	c.1069G>C	c.(1069-1071)Ggt>Cgt	p.G357R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	357					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTTGTCAGTGGTGAGCGACT	0.498																																						dbGAP											0													104.0	102.0	103.0					16																	26147267		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1069G>C	16.37:g.26147267G>C	ENSP00000330606:p.Gly357Arg		Q5QI42|Q8NDC2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.G357R	ENST00000331351.5	37	c.1069	CCDS53995.1	16	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785671	0.90282	.	.	ENSG00000182601	ENST00000331351	D	0.83837	-1.77	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.94525	0.8237	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96059	0.9037	10	0.87932	D	0	.	18.5023	0.90887	0.0:0.0:1.0:0.0	.	357	Q9Y661	HS3S4_HUMAN	R	357	ENSP00000330606:G357R	ENSP00000330606:G357R	G	+	1	0	HS3ST4	26054768	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	9.823000	0.99369	2.602000	0.87976	0.655000	0.94253	GGT	HS3ST4	-	pfam_Sulfotransferase_dom	ENSG00000182601		0.498	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	33	0.00	0	G	NM_006040		26147267	26147267	+1	no_errors	ENST00000331351	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	1.000	C
IDH3B	3420	genome.wustl.edu	37	20	2644347	2644347	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr20:2644347C>A	ENST00000380843.4	-	3	205	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	IDH3B_ENST00000380851.5_Missense_Mutation_p.V59L|RP4-686C3.7_ENST00000418739.1_RNA|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	59					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						TCAGGCCCCACACCGTCTCCC	0.597																																						dbGAP											0													77.0	71.0	73.0					20																	2644347		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.175G>T	20.37:g.2644347C>A	ENSP00000370223:p.Val59Leu		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.V59L	ENST00000380843.4	37	c.175	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.180078	0.94846	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.57107	0.42;0.42	5.23	5.23	0.72850	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.93678	3.445	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.64237	0.902;0.923	D	0.83846	0.0260	10	0.72032	D	0.01	-26.437	16.343	0.83101	0.0:1.0:0.0:0.0	.	59;59	O43837-2;O43837	.;IDH3B_HUMAN	L	59	ENSP00000370232:V59L;ENSP00000370223:V59L	ENSP00000343215:V59L	V	-	1	0	IDH3B	2592347	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.302000	0.59092	2.716000	0.92895	0.655000	0.94253	GTG	IDH3B	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000101365		0.597	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	27	0.00	0	C			2644347	2644347	-1	no_errors	ENST00000380843	ensembl	human	known	69_37n	missense	8	72.41	21	SNP	1.000	A
IFIT1	3434	genome.wustl.edu	37	10	91162494	91162496	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:91162494_91162496delAAA	ENST00000371804.3	+	2	629_631	c.462_464delAAA	c.(460-465)ggaaaa>gga	p.K155del	IFIT1_ENST00000546318.1_In_Frame_Del_p.K124del|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	155					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGTGTGGAGGAAAAAATTATGAA	0.488																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.462_464delAAA	10.37:g.91162497_91162499delAAA	ENSP00000360869:p.Lys155del		B3KS50|D3DR31|Q5T7J1|Q96QM5	In_Frame_Del	DEL	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K155in_frame_del	ENST00000371804.3	37	c.462_464	CCDS31243.1	10																																																																																			IFIT1	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000185745		0.488	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	29	0.00	0	AAA	NM_001548		91162494	91162496	+1	no_errors	ENST00000371804	ensembl	human	known	69_37n	in_frame_del	11	36.84	7	DEL	0.024:0.006:0.005	-
IGHG3	3502	genome.wustl.edu	37	14	106237463	106237463	+	RNA	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr14:106237463A>T	ENST00000390551.2	-	0	279							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TCTCTTGTCCACCTTGGTGTT	0.637																																						dbGAP											0													183.0	158.0	166.0					14																	106237463		2102	4226	6328	-	-	-			0			M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237463A>T			A2NU35	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.W94R	ENST00000390551.2	37	c.280		14																																																																																			IGHG3	-	pfscan_Ig-like	ENSG00000211897		0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHG3	HGNC	IG_C_gene	OTTHUMT00000326654.1	148	0.00	0	A	NG_001019		106237463	106237463	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390551	ensembl	human	known	69_37n	missense	43	86.03	271	SNP	0.179	T
IGHV1-69	28461	genome.wustl.edu	37	14	107169978	107169978	+	RNA	SNP	G	G	T	rs11557986	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr14:107169978G>T	ENST00000390633.2	-	0	364									immunoglobulin heavy variable 1-69																		AGGCTGCTCAGCTCCATGTAG	0.527																																						dbGAP											0													343.0	280.0	301.0					14																	107169978		2112	4197	6309	-	-	-			0			L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107169978G>T				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L102M	ENST00000390633.2	37	c.304		14																																																																																			IGHV1-69	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211973		0.527	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-69	HGNC	IG_V_gene	OTTHUMT00000324207.1	97	0.00	0	G	NG_001019		107169978	107169978	-1	no_stop_codon	ENST00000390633	ensembl	human	known	69_37n	missense	27	80.99	115	SNP	1.000	T
IL11RA	3590	genome.wustl.edu	37	9	34660531	34660531	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr9:34660531T>C	ENST00000555003.1	+	11	2459	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A	RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000602473.1_Missense_Mutation_p.V368A|IL11RA_ENST00000441545.2_Missense_Mutation_p.V368A|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000378817.4_Missense_Mutation_p.V368A|IL11RA_ENST00000318041.9_Missense_Mutation_p.V368A			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	368					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CAGGTAGCTGTGCTGGCGTCT	0.592																																						dbGAP											0													123.0	124.0	124.0					9																	34660531		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1103T>C	9.37:g.34660531T>C	ENSP00000450565:p.Val368Ala		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V368A	ENST00000555003.1	37	c.1103	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607743	0.66558	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.48201	0.9;0.9;0.82;0.9	5.83	5.83	0.93111	.	0.638843	0.15737	N	0.247113	T	0.47002	0.1422	L	0.60455	1.87	0.36292	D	0.856468	P;P	0.49559	0.925;0.925	B;B	0.41510	0.359;0.359	T	0.61724	-0.7004	10	0.87932	D	0	-5.9486	12.5851	0.56412	0.0:0.0:0.0:1.0	.	368;368	Q5VZ79;Q14626	.;I11RA_HUMAN	A	368	ENSP00000450565:V368A;ENSP00000394391:V368A;ENSP00000368094:V368A;ENSP00000326500:V368A	ENSP00000326500:V368A	V	+	2	0	IL11RA	34650531	1.000000	0.71417	0.849000	0.33467	0.912000	0.54170	4.336000	0.59304	2.226000	0.72624	0.496000	0.49642	GTG	IL11RA	-	NULL	ENSG00000137070		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	84	0.00	0	T	NM_001142784		34660531	34660531	+1	no_errors	ENST00000318041	ensembl	human	known	69_37n	missense	93	46.86	82	SNP	0.880	C
IPO11	51194	genome.wustl.edu	37	5	61738838	61738838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr5:61738838delT	ENST00000325324.6	+	3	336	c.167delT	c.(166-168)atafs	p.I56fs	KIF2A_ENST00000509663.2_Intron|RNU6-661P_ENST00000362409.1_RNA|IPO11_ENST00000409296.3_Frame_Shift_Del_p.I96fs	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	56	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACTTTGGATATAAATGTAAGG	0.323																																						dbGAP											0													76.0	72.0	74.0					5																	61738838		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.167delT	5.37:g.61738838delT	ENSP00000316651:p.Ile56fs		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Frame_Shift_Del	DEL	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I96fs	ENST00000325324.6	37	c.287	CCDS34167.1	5																																																																																			IPO11	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	ENSG00000086200		0.323	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	73	0.00	0	T	NM_016338		61738838	61738838	+1	no_errors	ENST00000409296	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
ITIH1	3697	genome.wustl.edu	37	3	52814374	52814374	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr3:52814374C>G	ENST00000273283.2	+	6	687	c.663C>G	c.(661-663)atC>atG	p.I221M	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.I221M|ITIH1_ENST00000540715.1_Missense_Mutation_p.I79M	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	221					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCCAAACTATCAAGAAGTCCT	0.542																																						dbGAP											0													43.0	42.0	42.0					3																	52814374		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.663C>G	3.37:g.52814374C>G	ENSP00000273283:p.Ile221Met		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I221M	ENST00000273283.2	37	c.663	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760785	0.69763	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02446	4.29;4.78;4.65	6.07	3.98	0.46160	.	0.295434	0.38492	N	0.001679	T	0.09247	0.0228	M	0.80183	2.485	0.80722	D	1	P	0.49358	0.923	P	0.52957	0.714	T	0.00690	-1.1608	10	0.66056	D	0.02	-32.3874	7.7242	0.28750	0.0:0.7381:0.0:0.2619	.	221	P19827	ITIH1_HUMAN	M	221;221;79	ENSP00000442584:I221M;ENSP00000273283:I221M;ENSP00000443973:I79M	ENSP00000273283:I221M	I	+	3	3	ITIH1	52789414	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	0.820000	0.27323	1.582000	0.49881	-0.140000	0.14226	ATC	ITIH1	-	NULL	ENSG00000055957		0.542	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	36	0.00	0	C	NM_002215		52814374	52814374	+1	no_errors	ENST00000273283	ensembl	human	known	69_37n	missense	5	62.50	10	SNP	0.999	G
ITSN2	50618	genome.wustl.edu	37	2	24475287	24475288	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr2:24475287_24475288TC>AA	ENST00000355123.4	-	25	3489_3490	c.3046_3047GA>TT	c.(3046-3048)GAg>TTg	p.E1016L	ITSN2_ENST00000361999.3_Missense_Mutation_p.E989L|ITSN2_ENST00000406921.3_Missense_Mutation_p.E1016L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1016	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCACCACTCTCCATCTTTC	0.371																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3046_3047delinsAA	2.37:g.24475287_24475288delinsAA	ENSP00000347244:p.Glu1016Leu		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation|Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1016V|p.E1016*	ENST00000355123.4	37	c.3047|c.3046	CCDS1710.2	2																																																																																			ITSN2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000198399		0.371	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	63|65	0.00	0	T|C	NM_006277		24475287|24475288	24475287|24475288	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	missense|nonsense	35	22.22	10	SNP	1.000	A
KCNJ5	3762	genome.wustl.edu	37	11	128781958	128781958	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:128781958G>A	ENST00000338350.4	+	3	1142	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	KCNJ5_ENST00000529694.1_Missense_Mutation_p.G264S|KCNJ5_ENST00000533599.1_Missense_Mutation_p.G264S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	264					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTTGACACGGGCGACGACCG	0.577																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	dbGAP											0													78.0	85.0	83.0					11																	128781958		2201	4297	6498	-	-	-	SO:0001583	missense	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.790G>A	11.37:g.128781958G>A	ENSP00000339960:p.Gly264Ser		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.4	p.G264S	ENST00000338350.4	37	c.790	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710921	0.89112	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.91945	-2.94;-2.94;-2.94	5.34	5.34	0.76211	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	0.95993	0.8695	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96142	0.9101	10	0.66056	D	0.02	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	264	P48544	IRK5_HUMAN	S	264	ENSP00000433295:G264S;ENSP00000339960:G264S;ENSP00000434266:G264S	ENSP00000339960:G264S	G	+	1	0	KCNJ5	128287168	1.000000	0.71417	0.676000	0.29932	0.892000	0.51952	9.869000	0.99810	2.497000	0.84241	0.561000	0.74099	GGC	KCNJ5	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000120457		0.577	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	42	0.00	0	G	NM_000890		128781958	128781958	+1	no_errors	ENST00000529694	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
KIAA1467	57613	genome.wustl.edu	37	12	13208585	13208585	+	Silent	SNP	G	G	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr12:13208585G>T	ENST00000197268.8	+	2	258	c.138G>T	c.(136-138)ggG>ggT	p.G46G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	46						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)		AGAATGGAGGGGTCAAAAATG	0.532																																						dbGAP											0													75.0	75.0	75.0					12																	13208585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.138G>T	12.37:g.13208585G>T			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.G46	ENST00000197268.8	37	c.138	CCDS31750.1	12																																																																																			KIAA1467	-	NULL	ENSG00000084444		0.532	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	23	0.00	0	G	NM_020853		13208585	13208585	+1	no_errors	ENST00000197268	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	0.990	T
KIF26B	55083	genome.wustl.edu	37	1	245766051	245766051	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:245766051C>T	ENST00000407071.2	+	6	1963	c.1523C>T	c.(1522-1524)gCc>gTc	p.A508V	KIF26B_ENST00000366518.4_Missense_Mutation_p.A127V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	508	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			AAGATGTTTGCCTTCGATGCA	0.502																																						dbGAP											0													134.0	132.0	133.0					1																	245766051		1914	4131	6045	-	-	-	SO:0001583	missense	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.1523C>T	1.37:g.245766051C>T	ENSP00000385545:p.Ala508Val		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A508V	ENST00000407071.2	37	c.1523	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806519	0.70682	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.75260	-0.92;-0.92	5.51	5.51	0.81932	Kinesin, motor domain (4);	.	.	.	.	D	0.83478	0.5263	L	0.47078	1.49	0.58432	D	0.999994	D;D	0.71674	0.996;0.998	D;D	0.76575	0.976;0.988	D	0.84160	0.0428	9	0.72032	D	0.01	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	127;508	B7WPD9;Q2KJY2	.;KI26B_HUMAN	V	508;127;124	ENSP00000385545:A508V;ENSP00000355475:A127V	ENSP00000355475:A127V	A	+	2	0	KIF26B	243832674	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.017000	0.70805	2.745000	0.94114	0.655000	0.94253	GCC	KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000162849		0.502	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	67	0.00	0	C	XM_371354		245766051	245766051	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	12	71.11	32	SNP	1.000	T
LAMP1	3916	genome.wustl.edu	37	13	113965104	113965104	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr13:113965104C>A	ENST00000332556.4	+	4	678	c.484C>A	c.(484-486)Cac>Aac	p.H162N	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	162	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CACCCAGGTCCACATGAACAA	0.463																																						dbGAP											0													110.0	115.0	113.0					13																	113965104		2184	4275	6459	-	-	-	SO:0001583	missense	0			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.484C>A	13.37:g.113965104C>A	ENSP00000333298:p.His162Asn		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.H162N	ENST00000332556.4	37	c.484	CCDS41909.1	13	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718131	0.15372	.	.	ENSG00000185896	ENST00000332556	T	0.31769	1.48	5.21	2.1	0.27182	.	1.137260	0.06358	N	0.711133	T	0.23492	0.0568	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.28106	-1.0054	10	0.26408	T	0.33	-14.2301	5.4431	0.16519	0.3483:0.4787:0.0:0.173	.	162	P11279	LAMP1_HUMAN	N	162	ENSP00000333298:H162N	ENSP00000333298:H162N	H	+	1	0	LAMP1	113013105	0.109000	0.22037	0.007000	0.13788	0.002000	0.02628	0.333000	0.19768	0.544000	0.28883	0.563000	0.77884	CAC	LAMP1	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000185896		0.463	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP1	HGNC	protein_coding	OTTHUMT00000045876.2	60	0.00	0	C			113965104	113965104	+1	no_errors	ENST00000332556	ensembl	human	known	69_37n	missense	69	25.00	23	SNP	0.000	A
LRRC4C	57689	genome.wustl.edu	37	11	40137802	40137802	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:40137802A>G	ENST00000278198.2	-	2	2004	c.41T>C	c.(40-42)aTa>aCa	p.I14T	LRRC4C_ENST00000530763.1_Missense_Mutation_p.I14T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I14T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I14T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	14					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCTAGGACCTATCATTATCTG	0.468																																						dbGAP											0													103.0	104.0	104.0					11																	40137802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.41T>C	11.37:g.40137802A>G	ENSP00000278198:p.Ile14Thr		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I14T	ENST00000278198.2	37	c.41	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589523	0.46214	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.76	5.76	0.90799	.	0.051765	0.64402	D	0.000001	T	0.37919	0.1021	N	0.14661	0.345	0.39621	D	0.970036	B	0.17852	0.024	B	0.18871	0.023	T	0.21965	-1.0230	10	0.35671	T	0.21	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	14	Q9HCJ2	LRC4C_HUMAN	T	14	ENSP00000278198:I14T;ENSP00000436976:I14T;ENSP00000437132:I14T;ENSP00000434761:I14T	ENSP00000278198:I14T	I	-	2	0	LRRC4C	40094378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.608000	0.74168	2.194000	0.70268	0.528000	0.53228	ATA	LRRC4C	-	NULL	ENSG00000148948		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	73	0.00	0	A	NM_020929		40137802	40137802	-1	no_errors	ENST00000527150	ensembl	human	known	69_37n	missense	41	47.44	37	SNP	1.000	G
LZTR1	8216	genome.wustl.edu	37	22	21348559	21348559	+	Splice_Site	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:21348559G>A	ENST00000215739.8	+	14	1974		c.e14+1		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						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)			CCACGGAAAGGTCCGCCTGGG	0.672																																						dbGAP											0													14.0	15.0	15.0					22																	21348559		2192	4291	6483	-	-	-	SO:0001630	splice_region_variant	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.1615+1G>A	22.37:g.21348559G>A			Q14776|Q20WK0	Splice_Site	SNP	-	e14+1	ENST00000215739.8	37	c.1615+1	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468086	0.63625	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.16	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7021	0.45933	0.0929:0.0:0.9071:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19678559	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	9.630000	0.98420	2.391000	0.81399	0.462000	0.41574	.	LZTR1	-	-	ENSG00000099949		0.672	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	11	0.00	0	G	NM_006767	Intron	21348559	21348559	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	splice_site	7	46.15	6	SNP	1.000	A
LZTR1	8216	genome.wustl.edu	37	22	21351303	21351303	+	Intron	SNP	G	G	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:21351303G>T	ENST00000215739.8	+	20	2765				LZTR1_ENST00000479606.1_Intron|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						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)			CTTGGCAGTGGCCATGCCCAG	0.647																																						dbGAP											0													38.0	35.0	36.0					22																	21351303		2203	4300	6503	-	-	-	SO:0001627	intron_variant	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.2406+48G>T	22.37:g.21351303G>T			Q14776|Q20WK0	Missense_Mutation	SNP	superfamily_BTB/POZ_fold	p.A118S	ENST00000215739.8	37	c.352	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193101	0.21954	.	.	ENSG00000099949	ENST00000415817	.	.	.	2.85	0.669	0.17918	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.22982	N	0.998472	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	.	5.2303	0.15418	0.2931:0.0:0.7069:0.0	.	.	.	.	S	118	.	.	A	+	1	0	LZTR1	19681303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.278000	0.18753	0.117000	0.18138	-0.244000	0.11960	GCC	LZTR1	-	NULL	ENSG00000099949		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	27	0.00	0	G	NM_006767		21351303	21351303	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415817	ensembl	human	putative	69_37n	missense	39	44.29	31	SNP	0.004	T
MN1	4330	genome.wustl.edu	37	22	28194900	28194900	+	Silent	SNP	T	T	C	rs202212250|rs530519178	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:28194900T>C	ENST00000302326.4	-	1	2586	c.1632A>G	c.(1630-1632)caA>caG	p.Q544Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				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						gctgctgctgttgctgttgct	0.647			T	ETV6	"""AML, meningioma"""								C|||	5	0.000998403	0.0023	0.0	5008	,	,		12597	0.0		0.0	False		,,,				2504	0.002					dbGAP		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0																																										-	-	-	SO:0001819	synonymous_variant	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.1632A>G	22.37:g.28194900T>C			A9Z1V9	Silent	SNP	NULL	p.Q544	ENST00000302326.4	37	c.1632	CCDS42998.1	22																																																																																			MN1	-	NULL	ENSG00000169184		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	20	0.00	0	T	NM_002430		28194900	28194900	-1	no_errors	ENST00000302326	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.937	C
MUC2	4583	genome.wustl.edu	37	11	1086332	1086332	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:1086332A>T	ENST00000441003.2	+	23	3068	c.3041A>T	c.(3040-3042)gAg>gTg	p.E1014V	MUC2_ENST00000359061.5_Missense_Mutation_p.E1014V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1014	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	GTGAGCAGCGAGCTGGACTTC	0.652																																						dbGAP											0													35.0	45.0	42.0					11																	1086332		2107	4202	6309	-	-	-	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.3041A>T	11.37:g.1086332A>T	ENSP00000415183:p.Glu1014Val		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.E1014V	ENST00000441003.2	37	c.3041		11	.	.	.	.	.	.	.	.	.	.	a	7.368	0.626184	0.14257	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12147	2.76;2.71	3.32	-3.05	0.05396	.	0.643972	0.12703	N	0.446181	T	0.02455	0.0075	N	0.01197	-0.965	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.38950	-0.9637	10	0.02654	T	1	.	1.5836	0.02639	0.2751:0.3939:0.099:0.232	.	1014	E7EUV1	.	V	1014	ENSP00000415183:E1014V;ENSP00000351956:E1014V	ENSP00000351956:E1014V	E	+	2	0	MUC2	1076332	0.038000	0.19896	0.408000	0.26446	0.878000	0.50629	0.623000	0.24447	-0.353000	0.08224	-1.090000	0.02178	GAG	MUC2	-	NULL	ENSG00000198788		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	23	0.00	0	A	NM_002457		1086332	1086332	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	10	72.97	27	SNP	0.013	T
NCAPH2	29781	genome.wustl.edu	37	22	50957642	50957642	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:50957642C>T	ENST00000420993.2	+	9	876	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	NCAPH2_ENST00000299821.11_Missense_Mutation_p.P252S|NCAPH2_ENST00000395698.3_Missense_Mutation_p.P252S|NCAPH2_ENST00000395701.3_Missense_Mutation_p.P252S	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	252					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGGCCCGATGCCCCTGGGTGG	0.662																																						dbGAP											0													19.0	25.0	23.0					22																	50957642		2200	4299	6499	-	-	-	SO:0001583	missense	0			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.754C>T	22.37:g.50957642C>T	ENSP00000410088:p.Pro252Ser		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.P252S	ENST00000420993.2	37	c.754	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	C	5.704	0.314425	0.10789	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.22	1.9	0.25705	.	1.553640	0.03370	N	0.198805	T	0.40956	0.1138	L	0.46157	1.445	0.09310	N	1	B;B;D;B;B	0.53885	0.023;0.013;0.963;0.016;0.017	B;B;P;B;B	0.52424	0.02;0.027;0.698;0.047;0.013	T	0.27157	-1.0082	9	0.18710	T	0.47	-4.7743	5.1607	0.15060	0.0:0.6717:0.2122:0.1161	.	252;252;230;252;252	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	S	252;252;252;218;252	.	ENSP00000299821:P252S	P	+	1	0	NCAPH2	49304508	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	0.184000	0.16939	1.093000	0.41377	0.462000	0.41574	CCC	NCAPH2	-	pfam_Condensin_II_H2-like	ENSG00000025770		0.662	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	12	0.00	0	C	NM_152299		50957642	50957642	+1	no_errors	ENST00000299821	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.005	T
NCF2	4688	genome.wustl.edu	37	1	183525283	183525284	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:183525283_183525284delTG	ENST00000367535.3	-	15	1801_1802	c.1550_1551delCA	c.(1549-1551)acafs	p.T517fs	NCF2_ENST00000367536.1_Frame_Shift_Del_p.T517fs|NCF2_ENST00000413720.1_Frame_Shift_Del_p.T472fs|NCF2_ENST00000418089.1_Frame_Shift_Del_p.T436fs	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	517					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTTCCAAATCTGTAGTTGCGCA	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1550_1551delCA	1.37:g.183525283_183525284delTG	ENSP00000356505:p.Thr517fs		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.T517fs	ENST00000367535.3	37	c.1551_1550	CCDS1356.1	1																																																																																			NCF2	-	NULL	ENSG00000116701		0.416	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	56	0.00	0	TG	NM_000433		183525283	183525284	-1	no_errors	ENST00000367535	ensembl	human	known	69_37n	frame_shift_del	52	41.57	37	DEL	0.001:0.000	-
NPLOC4	55666	genome.wustl.edu	37	17	79526293	79526293	+	Silent	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:79526293T>G	ENST00000331134.6	-	17	2034	c.1819A>C	c.(1819-1821)Agg>Cgg	p.R607R	NPLOC4_ENST00000573876.1_3'UTR|NPLOC4_ENST00000572760.1_3'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	607					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTAGGTCCTGGGGAGGCTG	0.647																																						dbGAP											0													17.0	22.0	20.0					17																	79526293		2043	4184	6227	-	-	-	SO:0001819	synonymous_variant	0			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1819A>C	17.37:g.79526293T>G			Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,smart_Znf_RanBP2,pirsf_PolyUb_recognition_cplx_Npl4,pfscan_Znf_RanBP2	p.R607	ENST00000331134.6	37	c.1819	CCDS45812.1	17																																																																																			NPLOC4	-	pfscan_Znf_RanBP2	ENSG00000182446		0.647	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	19	0.00	0	T			79526293	79526293	-1	no_errors	ENST00000331134	ensembl	human	known	69_37n	silent	29	38.30	18	SNP	1.000	G
OR10J3	441911	genome.wustl.edu	37	1	159284400	159284400	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:159284400delA	ENST00000332217.5	-	1	49	c.50delT	c.(49-51)ttcfs	p.F17fs		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F17S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAAGCTGGAGAAACCTTCAAA	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											168.0	176.0	174.0					1																	159284400		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.50delT	1.37:g.159284400delA	ENSP00000331789:p.Phe17fs			Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F17fs	ENST00000332217.5	37	c.50	CCDS30909.1	1																																																																																			OR10J3	-	NULL	ENSG00000196266		0.423	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	36	0.00	0	A			159284400	159284400	-1	no_errors	ENST00000332217	ensembl	human	known	69_37n	frame_shift_del	55	12.70	8	DEL	0.784	-
OBSCN	84033	genome.wustl.edu	37	1	228464918	228464918	+	Silent	SNP	A	A	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:228464918A>C	ENST00000422127.1	+	24	6702	c.6658A>C	c.(6658-6660)Agg>Cgg	p.R2220R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.R2595R|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Silent_p.R2220R|OBSCN_ENST00000359599.6_Silent_p.R1067R|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2220	Ig-like 22.				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)				GGGCGCCTGCAGGAGCCTCAC	0.632																																						dbGAP											0													61.0	77.0	72.0					1																	228464918		2158	4259	6417	-	-	-	SO:0001819	synonymous_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.6658A>C	1.37:g.228464918A>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R2220	ENST00000422127.1	37	c.6658	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		54	0.00	0	A	NM_052843		228464918	228464918	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	86	32.28	41	SNP	0.954	C
OR4C15	81309	genome.wustl.edu	37	11	55321992	55321992	+	Silent	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:55321992A>G	ENST00000314644.2	+	1	210	c.210A>G	c.(208-210)tcA>tcG	p.S70S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGGACTTTCACAGAATCCAA	0.388										HNSCC(20;0.049)																												dbGAP											0													123.0	127.0	126.0					11																	55321992		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.210A>G	11.37:g.55321992A>G			Q6IFE2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S70	ENST00000314644.2	37	c.210	CCDS31501.1	11																																																																																			OR4C15	-	NULL	ENSG00000181939		0.388	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	48	0.00	0	A	NM_001001920		55321992	55321992	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.041	G
OTOA	146183	genome.wustl.edu	37	16	21728342	21728342	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr16:21728342A>G	ENST00000286149.4	+	14	1646	c.1645A>G	c.(1645-1647)Aag>Gag	p.K549E	OTOA_ENST00000388956.4_Missense_Mutation_p.K456E|OTOA_ENST00000388958.3_Missense_Mutation_p.K535E|OTOA_ENST00000388957.3_Missense_Mutation_p.K211E			Q7RTW8	OTOAN_HUMAN	otoancorin	549					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TACAGTCCTGAAGGATAAGGA	0.438																																						dbGAP											0													113.0	111.0	112.0					16																	21728342		2199	4300	6499	-	-	-	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1645A>G	16.37:g.21728342A>G	ENSP00000286149:p.Lys549Glu		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.K549E	ENST00000286149.4	37	c.1645		16	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925785	0.73213	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.38	5.38	0.77491	.	0.113627	0.56097	D	0.000022	D	0.87241	0.6128	M	0.66939	2.045	0.42541	D	0.99307	D;D;P;D	0.56746	0.977;0.977;0.95;0.977	P;P;P;P	0.55615	0.706;0.78;0.625;0.706	D	0.88705	0.3218	10	0.66056	D	0.02	-12.4947	13.3719	0.60717	1.0:0.0:0.0:0.0	.	549;456;211;535	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	E	535;549;456;211	ENSP00000373610:K535E;ENSP00000286149:K549E;ENSP00000373608:K456E;ENSP00000373609:K211E	ENSP00000286149:K549E	K	+	1	0	OTOA	21635843	0.999000	0.42202	0.458000	0.27068	0.951000	0.60555	2.520000	0.45554	2.030000	0.59900	0.533000	0.62120	AAG	OTOA	-	NULL	ENSG00000155719		0.438	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	44	0.00	0	A			21728342	21728342	+1	no_errors	ENST00000286149	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.906	G
PABPC4	8761	genome.wustl.edu	37	1	40030439	40030439	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:40030439C>T	ENST00000372857.3	-	9	2044	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.G418R|PABPC4_ENST00000372856.3_Missense_Mutation_p.G418R|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G418R	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	418					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAGGCCTTCCCTGAGCCTGT	0.498																																						dbGAP											0													115.0	106.0	109.0					1																	40030439		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1252G>A	1.37:g.40030439C>T	ENSP00000361948:p.Gly418Arg		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	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.G418R	ENST00000372857.3	37	c.1252	CCDS438.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364307	0.61513	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.17054	2.41;2.36;2.35;2.3	5.94	4.94	0.65067	.	0.153198	0.56097	D	0.000023	T	0.13200	0.0320	L	0.46157	1.445	0.43164	D	0.994959	B;B;B	0.24317	0.101;0.0;0.01	B;B;B	0.23275	0.045;0.009;0.019	T	0.15178	-1.0446	10	0.38643	T	0.18	.	3.948	0.09356	0.0:0.6843:0.0:0.3157	.	418;418;418	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	R	418	ENSP00000361953:G418R;ENSP00000361949:G418R;ENSP00000361948:G418R;ENSP00000361947:G418R	ENSP00000361947:G418R	G	-	1	0	PABPC4	39803026	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.188000	0.72045	2.816000	0.96949	0.561000	0.74099	GGA	PABPC4	-	tigrfam_PABP_1234	ENSG00000090621		0.498	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	33	0.00	0	C	NM_001135653		40030439	40030439	-1	no_errors	ENST00000372858	ensembl	human	known	69_37n	missense	46	34.29	24	SNP	1.000	T
PACRG	135138	genome.wustl.edu	37	6	163483345	163483345	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:163483345C>T	ENST00000337019.3	+	4	679	c.455C>T	c.(454-456)cCg>cTg	p.P152L	PACRG_ENST00000366889.2_Missense_Mutation_p.P152L|PACRG_ENST00000366888.2_Missense_Mutation_p.P152L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	152					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCATTATCCCGATAAAAAGT	0.428																																						dbGAP											0													68.0	62.0	64.0					6																	163483345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.455C>T	6.37:g.163483345C>T	ENSP00000337946:p.Pro152Leu		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	pfam_Parkin_co-regulated_protein	p.R10*	ENST00000337019.3	37	c.28	CCDS5284.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.426362|4.426362	0.83667|0.83667	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000542936	T;T;T|.	0.65916|.	-0.12;-0.18;-0.18|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84297|.	0.5441|.	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	P;D|.	0.65815|.	0.925;0.995|.	P;P|.	0.54401|.	0.505;0.751|.	D|.	0.88244|.	0.2912|.	10|.	0.72032|.	D|.	0.01|.	-19.4111|-19.4111	18.3664|18.3664	0.90392|0.90392	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152;152|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	L|X	152|10	ENSP00000337946:P152L;ENSP00000355855:P152L;ENSP00000355854:P152L|.	ENSP00000337946:P152L|.	P|R	+|+	2|1	0|2	PACRG|PACRG	163403335|163403335	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.995000|0.995000	0.86356|0.86356	7.404000|7.404000	0.79996|0.79996	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	CCG|CGA	PACRG	-	pfam_Parkin_co-regulated_protein	ENSG00000112530		0.428	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	32	0.00	0	C	NM_152410		163483345	163483345	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000542936	ensembl	human	putative	69_37n	nonsense	28	33.33	14	SNP	0.904	T
PKHD1L1	93035	genome.wustl.edu	37	8	110457789	110457789	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr8:110457789T>G	ENST00000378402.5	+	38	5795	c.5691T>G	c.(5689-5691)ttT>ttG	p.F1897L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1897	IPT/TIG 11.				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)			TTAAAATCTTTGTTAATACAA	0.428										HNSCC(38;0.096)																												dbGAP											0													34.0	34.0	34.0					8																	110457789		1875	4106	5981	-	-	-	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.5691T>G	8.37:g.110457789T>G	ENSP00000367655:p.Phe1897Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.F1897L	ENST00000378402.5	37	c.5691	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.560351	0.00910	.	.	ENSG00000205038	ENST00000378402	D	0.88354	-2.37	5.91	-5.8	0.02347	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.624240	0.02767	N	0.119318	T	0.75369	0.3840	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.67197	-0.5731	10	0.09338	T	0.73	.	9.3786	0.38299	0.0:0.1341:0.4602:0.4057	.	1897	Q86WI1	PKHL1_HUMAN	L	1897	ENSP00000367655:F1897L	ENSP00000367655:F1897L	F	+	3	2	PKHD1L1	110526965	0.048000	0.20356	0.000000	0.03702	0.022000	0.10575	0.269000	0.18589	-0.815000	0.04346	-1.236000	0.01555	TTT	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000205038		0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	31	0.00	0	T	NM_177531		110457789	110457789	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	0.000	G
PKHD1L1	93035	genome.wustl.edu	37	8	110509244	110509244	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr8:110509244T>A	ENST00000378402.5	+	64	10528	c.10424T>A	c.(10423-10425)cTt>cAt	p.L3475H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3475					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)			GGATGTTCTCTTATACAAGGA	0.358										HNSCC(38;0.096)																												dbGAP											0													147.0	139.0	141.0					8																	110509244		1830	4091	5921	-	-	-	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.10424T>A	8.37:g.110509244T>A	ENSP00000367655:p.Leu3475His		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.L3475H	ENST00000378402.5	37	c.10424	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492955	0.26774	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80994	-1.44;-1.44	5.64	4.37	0.52481	Pectin lyase fold/virulence factor (1);	0.403323	0.23012	N	0.052959	T	0.67988	0.2952	L	0.31294	0.92	0.24087	N	0.995922	B	0.12013	0.005	B	0.17979	0.02	T	0.50617	-0.8807	10	0.15499	T	0.54	.	11.1382	0.48388	0.1479:0.0:0.0:0.852	.	3475	Q86WI1	PKHL1_HUMAN	H	3475;403	ENSP00000367655:L3475H;ENSP00000437376:L403H	ENSP00000367655:L3475H	L	+	2	0	PKHD1L1	110578420	0.954000	0.32549	1.000000	0.80357	0.998000	0.95712	1.005000	0.29834	2.152000	0.67230	0.528000	0.53228	CTT	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000205038		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	130	0.00	0	T	NM_177531		110509244	110509244	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.931	A
PKN1	5585	genome.wustl.edu	37	19	14551135	14551135	+	Intron	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:14551135G>A	ENST00000242783.6	+	2	186				PKN1_ENST00000587429.1_Intron|PKN1_ENST00000342216.4_Silent_p.E11E	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1						activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGAGCAGGAGCTGGAGGTGG	0.677																																					NSCLC(185;2539 2965 10733 52867)	dbGAP											0													7.0	10.0	9.0					19																	14551135		1627	3550	5177	-	-	-	SO:0001627	intron_variant	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.22-820G>A	19.37:g.14551135G>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E11	ENST00000242783.6	37	c.33	CCDS42513.1	19																																																																																			PKN1	-	NULL	ENSG00000123143		0.677	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	12	0.00	0	G	NM_002741, NM_213560		14551135	14551135	+1	no_errors	ENST00000342216	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	1.000	A
PROZ	8858	genome.wustl.edu	37	13	113826030	113826030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr13:113826030C>T	ENST00000375547.2	+	8	821	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	PROZ_ENST00000342783.4_Nonsense_Mutation_p.Q294*	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	272	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)	GTGGCCCATCCAGTGCCCAGG	0.647																																						dbGAP											0													73.0	72.0	72.0					13																	113826030		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.814C>T	13.37:g.113826030C>T	ENSP00000364697:p.Gln272*		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Nonsense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Peptidase_S1_S6,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.Q272*	ENST00000375547.2	37	c.814	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843700	0.32606	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	.	.	.	4.16	4.16	0.48862	.	1.029540	0.07689	N	0.938477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9852	0.30207	0.15:0.5492:0.3008:0.0	.	.	.	.	X	272;294	.	ENSP00000344458:Q294X	Q	+	1	0	PROZ	112874031	0.057000	0.20700	0.006000	0.13384	0.183000	0.23260	0.912000	0.28597	1.842000	0.53543	0.313000	0.20887	CAG	PROZ	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000126231		0.647	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	HGNC	protein_coding	OTTHUMT00000045845.1	18	0.00	0	C	NM_003891		113826030	113826030	+1	no_errors	ENST00000375547	ensembl	human	known	69_37n	nonsense	26	40.00	18	SNP	0.001	T
PTGES3	10728	genome.wustl.edu	37	12	57065556	57065556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr12:57065556delT	ENST00000262033.6	-	4	562	c.262delA	c.(262-264)aggfs	p.R88fs	PTGES3_ENST00000414274.3_Frame_Shift_Del_p.R88fs|PTGES3_ENST00000448157.2_Frame_Shift_Del_p.R88fs|PTGES3_ENST00000537473.1_5'UTR|RN7SL809P_ENST00000482040.2_RNA|PTGES3_ENST00000456859.2_Frame_Shift_Del_p.R52fs|PTGES3_ENST00000436399.2_Intron	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	88	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						TTTGTTAACCTTGGCCATGAC	0.323																																						dbGAP											0													84.0	84.0	84.0					12																	57065556		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.262delA	12.37:g.57065556delT	ENSP00000262033:p.Arg88fs		A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	Frame_Shift_Del	DEL	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R88fs	ENST00000262033.6	37	c.262	CCDS31836.1	12																																																																																			PTGES3	-	superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000110958		0.323	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3	HGNC	protein_coding	OTTHUMT00000408054.1	47	0.00	0	T	NM_006601		57065556	57065556	-1	no_errors	ENST00000262033	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.998	-
RAD18	56852	genome.wustl.edu	37	3	8954040	8954040	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr3:8954040delT	ENST00000264926.2	-	9	1099	c.983delA	c.(982-984)aagfs	p.K328fs		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	328					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTTGGTCCTTTGTAAAAAC	0.294								Rad6 pathway																														dbGAP											0													119.0	119.0	119.0					3																	8954040		2197	4295	6492	-	-	-	SO:0001589	frameshift_variant	0				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.983delA	3.37:g.8954040delT	ENSP00000264926:p.Lys328fs		Q58F55|Q9NRT6	Frame_Shift_Del	DEL	pfam_SAP_DNA-bd,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_DNA-bd,pfscan_Znf_RING,pfscan_SAP_DNA-bd	p.K328fs	ENST00000264926.2	37	c.983	CCDS2571.1	3																																																																																			RAD18	-	NULL	ENSG00000070950		0.294	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	HGNC	protein_coding	OTTHUMT00000207071.2	158	0.00	0	T	NM_020165		8954040	8954040	-1	no_errors	ENST00000264926	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
RAI2	10742	genome.wustl.edu	37	X	17818732	17818732	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chrX:17818732A>T	ENST00000545871.1	-	3	1859	c.1399T>A	c.(1399-1401)Tcc>Acc	p.S467T	RAI2_ENST00000331511.1_Missense_Mutation_p.S467T|RAI2_ENST00000415486.3_Missense_Mutation_p.S417T|RAI2_ENST00000360011.1_Missense_Mutation_p.S467T|RAI2_ENST00000451717.1_Missense_Mutation_p.S467T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	467					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTTTTGAAGGAGAAGTTTTTG	0.507																																						dbGAP											0													205.0	210.0	208.0					X																	17818732		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1399T>A	X.37:g.17818732A>T	ENSP00000444210:p.Ser467Thr		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	NULL	p.S467T	ENST00000545871.1	37	c.1399	CCDS14183.1	X	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541156	0.65085	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.48522	0.84;0.84;0.84;0.84;0.81	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	L	0.36672	1.1	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.63019	-0.6730	10	0.87932	D	0	-28.738	14.0845	0.64947	1.0:0.0:0.0:0.0	.	417;467	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	T	467;467;467;467;417	ENSP00000333456:S467T;ENSP00000353106:S467T;ENSP00000444210:S467T;ENSP00000401323:S467T;ENSP00000392578:S417T	ENSP00000333456:S467T	S	-	1	0	RAI2	17728653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.499000	0.90494	1.901000	0.55032	0.486000	0.48141	TCC	RAI2	-	NULL	ENSG00000131831		0.507	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	81	0.00	0	A	NM_021785		17818732	17818732	-1	no_errors	ENST00000331511	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	T
RBMXL2	27288	genome.wustl.edu	37	11	7110465	7110465	+	Silent	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:7110465C>G	ENST00000306904.5	+	1	301	c.114C>G	c.(112-114)ctC>ctG	p.L38L		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	38	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGAGGTGCTCCTGATGAAAG	0.597																																						dbGAP											0													43.0	43.0	43.0					11																	7110465		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.114C>G	11.37:g.7110465C>G			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.L38	ENST00000306904.5	37	c.114	CCDS7777.1	11																																																																																			RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.597	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	18	0.00	0	C	NM_014469		7110465	7110465	+1	no_errors	ENST00000306904	ensembl	human	known	69_37n	silent	13	58.06	18	SNP	0.008	G
RCAN2	10231	genome.wustl.edu	37	6	46216493	46216493	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:46216493G>C	ENST00000330430.6	-	2	416	c.228C>G	c.(226-228)ttC>ttG	p.F76L	RCAN2_ENST00000306764.7_Missense_Mutation_p.F122L|RCAN2_ENST00000405162.1_Missense_Mutation_p.F122L|RCAN2_ENST00000371374.1_Missense_Mutation_p.F122L	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	76					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTTTCCCTCTGAATTGGGTTT	0.358																																						dbGAP											0													82.0	75.0	77.0					6																	46216493		1823	4083	5906	-	-	-	SO:0001583	missense	0			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.228C>G	6.37:g.46216493G>C	ENSP00000329454:p.Phe76Leu		A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	pfam_Calcipressin	p.F122L	ENST00000330430.6	37	c.366	CCDS43469.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.215487	0.95104	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	L	0.50919	1.6	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.91635	0.999;0.994	T	0.73522	-0.3956	9	0.87932	D	0	-18.8857	19.0872	0.93209	0.0:0.0:1.0:0.0	.	122;76	Q14206-2;Q14206	.;RCAN2_HUMAN	L	76;122;122;122	.	ENSP00000305223:F122L	F	-	3	2	RCAN2	46324452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.316000	0.72857	2.752000	0.94435	0.655000	0.94253	TTC	RCAN2	-	pfam_Calcipressin	ENSG00000172348		0.358	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN2	HGNC	protein_coding	OTTHUMT00000040782.1	91	0.00	0	G			46216493	46216493	-1	no_errors	ENST00000306764	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	C
REV3L	5980	genome.wustl.edu	37	6	111695002	111695002	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:111695002G>A	ENST00000358835.3	-	14	5010	c.4556C>T	c.(4555-4557)gCa>gTa	p.A1519V	REV3L_ENST00000435970.1_Missense_Mutation_p.A1441V|REV3L_ENST00000368805.1_Missense_Mutation_p.A1519V|REV3L_ENST00000368802.3_Missense_Mutation_p.A1519V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1519					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)		TTCACCAAATGCTGAAGGTGT	0.378								DNA polymerases (catalytic subunits)																														dbGAP											0													176.0	174.0	175.0					6																	111695002		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.4556C>T	6.37:g.111695002G>A	ENSP00000351697:p.Ala1519Val		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.A1519V	ENST00000358835.3	37	c.4556	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665300	0.29604	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01599	4.84;4.84;4.84;4.74	6.04	5.17	0.71159	Ribonuclease H-like (1);	0.339239	0.26808	N	0.022396	T	0.00724	0.0024	L	0.31926	0.97	0.27130	N	0.961916	B	0.10296	0.003	B	0.09377	0.004	T	0.48031	-0.9070	10	0.22706	T	0.39	-0.4497	14.4404	0.67311	0.0711:0.0:0.9289:0.0	.	1519	O60673	DPOLZ_HUMAN	V	1519;1519;1519;1441	ENSP00000357792:A1519V;ENSP00000357795:A1519V;ENSP00000351697:A1519V;ENSP00000402003:A1441V	ENSP00000351697:A1519V	A	-	2	0	REV3L	111801695	0.990000	0.36364	0.992000	0.48379	0.960000	0.62799	2.963000	0.49184	1.539000	0.49286	0.563000	0.77884	GCA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	91	0.00	0	G	NM_002912		111695002	111695002	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
RFPL1	5988	genome.wustl.edu	37	22	29833738	29833738	+	5'Flank	SNP	G	G	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:29833738G>T	ENST00000354373.2	+	0	0				RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ATGCCTGTGTGTGTGTTTTTC	0.517																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516		22.37:g.29833738G>T	Exception_encountered		Q6IC06|Q9UJ97	RNA	SNP	-	NULL	ENST00000354373.2	37	NULL	CCDS13857.2	22																																																																																			RFPL1-AS1	-	-	ENSG00000225465		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1-AS1	HGNC	protein_coding	OTTHUMT00000318719.1	30	0.00	0	G	NM_021026		29833738	29833738	-1	no_errors	ENST00000461286	ensembl	human	known	69_37n	rna	28	34.88	15	SNP	0.009	T
RNF219	79596	genome.wustl.edu	37	13	79213121	79213121	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr13:79213121T>A	ENST00000282003.6	-	4	444	c.386A>T	c.(385-387)gAt>gTt	p.D129V		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	129							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGTTAAAGGATCCAGAATAGT	0.373																																						dbGAP											0													148.0	142.0	144.0					13																	79213121		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.386A>T	13.37:g.79213121T>A	ENSP00000282003:p.Asp129Val		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.D129V	ENST00000282003.6	37	c.386	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613326	0.66672	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.38	4.22	0.49857	.	0.477764	0.23722	N	0.045215	T	0.34250	0.0891	N	0.24115	0.695	0.47905	D	0.999549	P	0.44734	0.842	B	0.42771	0.397	T	0.22800	-1.0206	9	0.87932	D	0	-3.8217	8.0456	0.30547	0.0:0.1518:0.0:0.8482	.	129	Q5W0B1	RN219_HUMAN	V	129	.	ENSP00000282003:D129V	D	-	2	0	RNF219	78111122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.275000	0.51639	2.036000	0.60181	0.533000	0.62120	GAT	RNF219	-	NULL	ENSG00000152193		0.373	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	70	0.00	0	T	NM_024546		79213121	79213121	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	A
RPLP0	6175	genome.wustl.edu	37	12	120634624	120634624	+	Silent	SNP	T	T	C	rs372338312		TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr12:120634624T>C	ENST00000551150.1	-	7	1221	c.906A>G	c.(904-906)gaA>gaG	p.E302E	RPLP0_ENST00000228306.4_Silent_p.E302E|RPLP0_ENST00000392514.4_Silent_p.E302E|RPLP0_ENST00000313104.5_Silent_p.E240E|RPLP0_ENST00000552292.1_Silent_p.E92E|RPLP0_ENST00000546989.1_Silent_p.E266E|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000550296.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	302					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)|ribosome biogenesis (GO:0042254)|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)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCGACTCTTCCTTGGCTT	0.512																																						dbGAP											0													23.0	25.0	25.0					12																	120634624		2194	4269	6463	-	-	-	SO:0001819	synonymous_variant	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.906A>G	12.37:g.120634624T>C			Q3B7A4|Q9BVK4	Silent	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.E302	ENST00000551150.1	37	c.906	CCDS9193.1	12																																																																																			RPLP0	-	pfam_Ribosomal_60S	ENSG00000089157		0.512	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	41	0.00	0	T	NM_053275		120634624	120634624	-1	no_errors	ENST00000228306	ensembl	human	known	69_37n	silent	9	75.68	28	SNP	0.999	C
RPS6KA2	6196	genome.wustl.edu	37	6	166833389	166833389	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:166833389A>C	ENST00000265678.4	-	18	2024	c.1801T>G	c.(1801-1803)Ttg>Gtg	p.L601V	RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L609V|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.L626V|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L512V|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L512V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	601	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGGTGTACAACAGGATCCCC	0.587																																						dbGAP											0													175.0	120.0	139.0					6																	166833389		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1801T>G	6.37:g.166833389A>C	ENSP00000265678:p.Leu601Val		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L626V	ENST00000265678.4	37	c.1876	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599045	0.28534	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	3.26	-5.39	0.02664	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	0.56097	D	0.000027	T	0.50769	0.1635	L	0.46157	1.445	0.80722	D	1	B;B;B	0.26081	0.141;0.02;0.001	B;B;B	0.41088	0.347;0.105;0.008	T	0.53063	-0.8491	10	0.87932	D	0	.	9.7223	0.40311	0.2507:0.1225:0.6268:0.0	.	626;609;601	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	V	601;626;609;512;512	ENSP00000265678:L601V;ENSP00000422435:L626V;ENSP00000427015:L609V;ENSP00000422484:L512V;ENSP00000386050:L512V	ENSP00000265678:L601V	L	-	1	2	RPS6KA2	166753379	0.000000	0.05858	0.169000	0.22859	0.343000	0.28985	-0.379000	0.07437	-1.391000	0.02085	-0.736000	0.03550	TTG	RPS6KA2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071242		0.587	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	36	0.00	0	A	NM_021135		166833389	166833389	-1	no_errors	ENST00000510118	ensembl	human	known	69_37n	missense	87	28.10	34	SNP	0.363	C
RRN3P1	730092	genome.wustl.edu	37	16	21813956	21813956	+	RNA	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr16:21813956C>G	ENST00000546471.1	-	0	1700							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		AAACTGCTAACCATATTAAAC	0.388																																						dbGAP											0																																										-	-	-			0					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21813956C>G			A8K6T4|B3KWX9|O75704	Splice_Site	SNP	-	NULL	ENST00000546471.1	37	c.NULL		16																																																																																			RRN3P1	-	-	ENSG00000248124		0.388	RRN3P1-002	KNOWN	basic	processed_transcript	RRN3P1	HGNC	pseudogene	OTTHUMT00000409035.1	56	0.00	0	C	NR_003370		21813956	21813956	-1	no_errors	ENST00000546471	ensembl	human	known	69_37n	splice_site	14	41.67	10	SNP	1.000	G
RUFY1	80230	genome.wustl.edu	37	5	178994482	178994482	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr5:178994482G>A	ENST00000319449.4	+	4	635	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	RUFY1_ENST00000377001.2_Missense_Mutation_p.R208Q|RUFY1_ENST00000437570.2_Missense_Mutation_p.R100Q|RUFY1_ENST00000393438.2_Missense_Mutation_p.R100Q	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	208	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAGGCCGAGCGTGGCTT	0.403										HNSCC(44;0.11)																												dbGAP											0													109.0	107.0	108.0					5																	178994482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.623G>A	5.37:g.178994482G>A	ENSP00000325594:p.Arg208Gln		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.R208Q	ENST00000319449.4	37	c.623	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.611062|5.611062	0.96637|0.96637	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000502984;ENST00000508609|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|T;T;T;T	.|0.18174	.|2.23;2.23;2.23;2.23	5.43|5.43	5.43|5.43	0.79202|0.79202	.|RUN (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54647|0.54647	0.1871|0.1871	M|M	0.92219|0.92219	3.285|3.285	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.65602|0.65602	-0.6128|-0.6128	5|10	.|0.87932	.|D	.|0	-15.4094|-15.4094	19.6173|19.6173	0.95639|0.95639	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208	.|Q96T51	.|RUFY1_HUMAN	K|Q	166;19|208;208;100;100	.|ENSP00000325594:R208Q;ENSP00000366200:R208Q;ENSP00000390025:R100Q;ENSP00000377087:R100Q	.|ENSP00000325594:R208Q	E|R	+|+	1|2	0|0	RUFY1|RUFY1	178927088|178927088	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.876000|0.876000	0.50452|0.50452	9.481000|9.481000	0.97933|0.97933	2.712000|2.712000	0.92718|0.92718	0.557000|0.557000	0.71058|0.71058	GAG|CGA	RUFY1	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000176783		0.403	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	70	0.00	0	G	NM_001040451		178994482	178994482	+1	no_errors	ENST00000319449	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36231819	36231819	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr21:36231819A>G	ENST00000344691.4	-	3	2061	c.484T>C	c.(484-486)Tac>Cac	p.Y162H	RUNX1_ENST00000399240.1_Missense_Mutation_p.Y162H|RUNX1_ENST00000486278.2_Missense_Mutation_p.Y165H|RUNX1_ENST00000437180.1_Missense_Mutation_p.Y189H|RUNX1_ENST00000358356.5_Missense_Mutation_p.Y162H|RUNX1_ENST00000300305.3_Missense_Mutation_p.Y189H|RUNX1_ENST00000325074.5_Missense_Mutation_p.Y177H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	162	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GCTCTGTGGTAGGTGGCGACT	0.542			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													308.0	271.0	283.0					21																	36231819		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.484T>C	21.37:g.36231819A>G	ENSP00000340690:p.Tyr162His		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.Y189H	ENST00000344691.4	37	c.565	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311341	0.81358	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	5.11	5.11	0.69529	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.90542	3.125	0.58432	D	0.999992	D;D;P;P;D;D;D	0.89917	0.998;0.998;0.811;0.955;0.992;0.992;1.0	D;D;P;D;D;P;D	0.91635	0.94;0.981;0.673;0.939;0.977;0.834;0.999	D	0.97448	1.0026	10	0.87932	D	0	-16.4559	12.8771	0.57996	1.0:0.0:0.0:0.0	.	189;162;162;165;189;177;162	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	H	162;189;189;177;162;165;162;177;165	ENSP00000340690:Y162H;ENSP00000300305:Y189H;ENSP00000409227:Y189H;ENSP00000319459:Y177H;ENSP00000382184:Y162H;ENSP00000351123:Y162H;ENSP00000382182:Y177H;ENSP00000438019:Y165H	ENSP00000300305:Y189H	Y	-	1	0	RUNX1	35153689	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.928000	0.92853	1.923000	0.55706	0.528000	0.53228	TAC	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.542	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	177	0.00	0	A			36231819	36231819	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	295	11.14	37	SNP	1.000	G
SAGE1	55511	genome.wustl.edu	37	X	134988615	134988615	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chrX:134988615T>C	ENST00000370709.3	+	6	641	c.641T>C	c.(640-642)gTc>gCc	p.V214A	SAGE1_ENST00000324447.3_Missense_Mutation_p.V214A|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.V214A			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	214						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGGAAAATGTCCAACCAGCA	0.453																																						dbGAP											0													201.0	165.0	177.0					X																	134988615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.641T>C	X.37:g.134988615T>C	ENSP00000359743:p.Val214Ala		Q5JNW0	Missense_Mutation	SNP	NULL	p.V214A	ENST00000370709.3	37	c.641	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.732815	0.00687	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.32272	1.46;1.46;1.46	1.34	0.362	0.16113	.	0.442759	0.21391	U	0.075313	T	0.07728	0.0194	N	0.02539	-0.55	0.19575	N	0.999962	B	0.24258	0.1	B	0.17098	0.017	T	0.34378	-0.9831	10	0.05351	T	0.99	.	4.2106	0.10510	0.0:0.0:0.5904:0.4096	.	214	Q9NXZ1	SAGE1_HUMAN	A	214	ENSP00000323191:V214A;ENSP00000445959:V214A;ENSP00000359743:V214A	ENSP00000323191:V214A	V	+	2	0	SAGE1	134816281	0.309000	0.24518	0.238000	0.24106	0.091000	0.18340	-0.295000	0.08298	0.044000	0.15775	0.151000	0.16131	GTC	SAGE1	-	NULL	ENSG00000181433		0.453	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	71	0.00	0	T	NM_018666		134988615	134988615	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	49	27.94	19	SNP	0.235	C
SCGB2A1	4246	genome.wustl.edu	37	11	61977971	61977971	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:61977971G>C	ENST00000244930.4	+	2	206	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	48					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCTTCTTCAAGAGTTCATAGA	0.413																																						dbGAP											0													109.0	111.0	110.0					11																	61977971		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.142G>C	11.37:g.61977971G>C	ENSP00000244930:p.Glu48Gln			Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.E48Q	ENST00000244930.4	37	c.142	CCDS8016.1	11	.	.	.	.	.	.	.	.	.	.	G	6.784	0.513592	0.12944	.	.	ENSG00000124939	ENST00000244930	T	0.13901	2.55	3.54	-3.67	0.04476	.	.	.	.	.	T	0.09335	0.0230	.	.	.	0.09310	N	1	B	0.33044	0.395	B	0.36608	0.229	T	0.37549	-0.9701	8	0.25106	T	0.35	.	9.9257	0.41492	0.1026:0.6574:0.2399:0.0	.	48	O75556	SG2A1_HUMAN	Q	48	ENSP00000244930:E48Q	ENSP00000244930:E48Q	E	+	1	0	SCGB2A1	61734547	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.452000	0.02385	-0.668000	0.05296	0.555000	0.69702	GAG	SCGB2A1	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	ENSG00000124939		0.413	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A1	HGNC	protein_coding	OTTHUMT00000394857.1	53	0.00	0	G	NM_002407		61977971	61977971	+1	no_errors	ENST00000244930	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.000	C
SFMBT2	57713	genome.wustl.edu	37	10	7290590	7290590	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:7290590G>C	ENST00000361972.4	-	8	982	c.892C>G	c.(892-894)Cat>Gat	p.H298D	SFMBT2_ENST00000397167.1_Missense_Mutation_p.H298D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	298					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTGAAGAAATGGCTTCGCAAA	0.498																																						dbGAP											0													106.0	89.0	95.0					10																	7290590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.892C>G	10.37:g.7290590G>C	ENSP00000355109:p.His298Asp		A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.H298D	ENST00000361972.4	37	c.892	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287201	0.80803	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.16324	2.35;2.35	5.4	5.4	0.78164	.	0.090328	0.85682	D	0.000000	T	0.43986	0.1272	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.34153	-0.9840	10	0.66056	D	0.02	.	19.1844	0.93637	0.0:0.0:1.0:0.0	.	298	Q5VUG0	SMBT2_HUMAN	D	298	ENSP00000355109:H298D;ENSP00000380353:H298D	ENSP00000355109:H298D	H	-	1	0	SFMBT2	7330596	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.995000	0.76257	2.519000	0.84933	0.650000	0.86243	CAT	SFMBT2	-	smart_Mbt,pfscan_Mbt	ENSG00000198879		0.498	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	56	0.00	0	G	NM_001029880		7290590	7290590	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	missense	43	51.14	45	SNP	1.000	C
SLC38A5	92745	genome.wustl.edu	37	X	48326122	48326122	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chrX:48326122C>A	ENST00000376876.3	-	3	947	c.104G>T	c.(103-105)gGg>gTg	p.G35V	SLC38A5_ENST00000376875.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.G35V			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	35					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CGGCTTGCTCCCAGGAGCAGG	0.602											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	39.0	43.0					X																	48326122		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.104G>T	X.37:g.48326122C>A	ENSP00000366073:p.Gly35Val	953	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G35V	ENST00000376876.3	37	c.104	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	c	11.50	1.658379	0.29425	.	.	ENSG00000017483	ENST00000376876;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T	0.48201	3.04;3.04;1.42;1.42;1.41;1.42;0.82	3.94	3.02	0.34903	.	1.255500	0.05736	N	0.600486	T	0.40119	0.1104	L	0.42245	1.32	0.58432	D	0.999996	B	0.21821	0.061	B	0.23275	0.045	T	0.15037	-1.0451	10	0.27785	T	0.31	.	5.7172	0.17966	0.0:0.833:0.0:0.167	.	35	Q8WUX1	S38A5_HUMAN	V	35	ENSP00000366073:G35V;ENSP00000313740:G35V;ENSP00000402988:G35V;ENSP00000407258:G35V;ENSP00000403976:G35V;ENSP00000389644:G35V;ENSP00000416948:G35V	ENSP00000313740:G35V	G	-	2	0	SLC38A5	48211066	0.782000	0.28689	0.935000	0.37517	0.547000	0.35210	0.180000	0.16860	0.617000	0.30160	0.422000	0.28245	GGG	SLC38A5	-	NULL	ENSG00000017483		0.602	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	27	0.00	0	C	NM_033518		48326122	48326122	-1	no_errors	ENST00000317669	ensembl	human	known	69_37n	missense	20	52.38	22	SNP	0.972	A
SPPL2C	162540	genome.wustl.edu	37	17	43924168	43924168	+	Silent	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:43924168C>G	ENST00000329196.5	+	1	1913	c.1896C>G	c.(1894-1896)gcC>gcG	p.A632A	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	632						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										TGCCAATGGCCATGCTGATCC	0.662																																						dbGAP											0													64.0	55.0	58.0					17																	43924168		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1896C>G	17.37:g.43924168C>G			Q8TC67|Q8WVZ6	Silent	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.A632	ENST00000329196.5	37	c.1896	CCDS32673.1	17																																																																																			SPPL2C	-	NULL	ENSG00000185294		0.662	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	14	0.00	0	C	NM_175882		43924168	43924168	+1	no_errors	ENST00000329196	ensembl	human	known	69_37n	silent	8	69.23	18	SNP	0.988	G
SRRM5	100170229	genome.wustl.edu	37	19	44116613	44116613	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:44116613C>T	ENST00000607544.1	+	3	662	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SRRM5_ENST00000417606.1_Missense_Mutation_p.R114W|ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000526798.1_Missense_Mutation_p.R129W			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	114	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						ATGCCACCAGCGGAGGGGCAC	0.642																																						dbGAP											0													43.0	51.0	48.0					19																	44116613		692	1591	2283	-	-	-	SO:0001583	missense	0			AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.340C>T	19.37:g.44116613C>T	ENSP00000476253:p.Arg114Trp		B4DNF0	Missense_Mutation	SNP	NULL	p.R129W	ENST00000607544.1	37	c.385	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460018	0.26248	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.06	0.585	0.17428	.	.	.	.	.	T	0.19287	0.0463	N	0.19112	0.55	0.09310	N	1	B	0.25609	0.13	B	0.20767	0.031	T	0.22277	-1.0221	8	0.66056	D	0.02	.	2.483	0.04592	0.3368:0.4033:0.1642:0.0957	.	114	B3KS81	SRRM5_HUMAN	W	129;114	.	ENSP00000414512:R114W	R	+	1	2	SRRM5	48808453	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.589000	0.23939	0.241000	0.21283	0.561000	0.74099	CGG	SRRM5	-	NULL	ENSG00000226763		0.642	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	44	0.00	0	C	NM_001145641		44116613	44116613	+1	no_errors	ENST00000526798	ensembl	human	known	69_37n	missense	40	34.92	22	SNP	0.000	T
SYNGAP1	8831	genome.wustl.edu	37	6	33409034	33409034	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr6:33409034G>C	ENST00000418600.2	+	12	2099	c.1998G>C	c.(1996-1998)gaG>gaC	p.E666D	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E607D|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E666D	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	666					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTTTGTATGAGATCTCCAATC	0.507																																						dbGAP											0													147.0	125.0	132.0					6																	33409034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1998G>C	6.37:g.33409034G>C	ENSP00000403636:p.Glu666Asp		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E666D	ENST00000418600.2	37	c.1998	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331157	0.81690	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17213	2.29;2.29;2.29	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	M	0.71920	2.185	0.54753	D	0.999989	D;D;D	0.57257	0.965;0.979;0.979	P;P;P	0.51266	0.463;0.664;0.664	T	0.01448	-1.1352	10	0.66056	D	0.02	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	666;666;666	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	D	666;666;666;607	ENSP00000293748:E666D;ENSP00000403636:E666D;ENSP00000412475:E607D	ENSP00000293748:E666D	E	+	3	2	SYNGAP1	33517012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.594000	0.74104	2.573000	0.86826	0.655000	0.94253	GAG	SYNGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000197283		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	98	0.00	0	G	XM_166407		33409034	33409034	+1	no_errors	ENST00000418600	ensembl	human	known	69_37n	missense	118	20.27	30	SNP	1.000	C
TMEM209	84928	genome.wustl.edu	37	7	129841839	129841839	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr7:129841839A>T	ENST00000397622.2	-	5	546	c.424T>A	c.(424-426)Tat>Aat	p.Y142N	TMEM209_ENST00000462753.1_Missense_Mutation_p.Y141N|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.Y142N|TMEM209_ENST00000336804.8_Missense_Mutation_p.Y141N	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	142	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GAAGGGCTATAACTCAACACA	0.547																																						dbGAP											0													72.0	72.0	72.0					7																	129841839		2023	4185	6208	-	-	-	SO:0001583	missense	0				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.424T>A	7.37:g.129841839A>T	ENSP00000380747:p.Tyr142Asn		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.Y142N	ENST00000397622.2	37	c.424	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752248	0.89753	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.77	5.77	0.91146	.	0.053266	0.85682	D	0.000000	T	0.47893	0.1470	L	0.51422	1.61	0.45390	D	0.998375	D;D;D	0.69078	0.983;0.997;0.995	P;D;D	0.66497	0.837;0.944;0.929	T	0.43940	-0.9360	10	0.56958	D	0.05	-15.9019	13.8362	0.63410	1.0:0.0:0.0:0.0	.	142;142;142	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	N	142;141;142;141;142;185	ENSP00000380747:Y142N;ENSP00000419697:Y141N;ENSP00000417258:Y142N;ENSP00000338388:Y141N;ENSP00000419852:Y185N	ENSP00000338388:Y141N	Y	-	1	0	TMEM209	129629075	1.000000	0.71417	0.991000	0.47740	0.679000	0.39708	8.703000	0.91344	2.204000	0.70986	0.383000	0.25322	TAT	TMEM209	-	pfam_Cytochrome_B561-rel	ENSG00000146842		0.547	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	27	0.00	0	A	NM_032842		129841839	129841839	-1	no_errors	ENST00000397622	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	59	0.00	0	G	NM_000546		7578263	7578263	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	25	59.68	37	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31360098	31360098	+	Silent	SNP	G	G	T	rs186217193	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr15:31360098G>T	ENST00000256552.6	-	5	624	c.477C>A	c.(475-477)acC>acA	p.T159T	TRPM1_ENST00000542188.1_Silent_p.T176T|TRPM1_ENST00000397795.2_Silent_p.T137T|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGACACCCCCGGTGAAGATCC	0.532																																						dbGAP											0													99.0	98.0	98.0					15																	31360098		1878	4108	5986	-	-	-	SO:0001819	synonymous_variant	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.477C>A	15.37:g.31360098G>T				Silent	SNP	pfam_Ion_trans_dom	p.T176	ENST00000256552.6	37	c.528	CCDS58346.1	15																																																																																			TRPM1	-	NULL	ENSG00000134160		0.532	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	29	0.00	0	G	NM_002420		31360098	31360098	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.001	T
TSSK2	23617	genome.wustl.edu	37	22	19119536	19119536	+	Silent	SNP	C	C	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr22:19119536C>T	ENST00000399635.2	+	1	1216	c.624C>T	c.(622-624)atC>atT	p.I208I	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					TCCTGTACATCATGGTCTGCG	0.597																																						dbGAP											0													94.0	89.0	91.0					22																	19119536		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.624C>T	22.37:g.19119536C>T			Q8IY55	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I208	ENST00000399635.2	37	c.624	CCDS13755.1	22																																																																																			TSSK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000206203		0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1	25	0.00	0	C			19119536	19119536	+1	no_errors	ENST00000399635	ensembl	human	known	69_37n	silent	20	41.18	14	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179583460	179583460	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr2:179583460G>A	ENST00000591111.1	-	82	23740	c.23516C>T	c.(23515-23517)gCt>gTt	p.A7839V	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6912V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8156V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13378	Ig-like 60.				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)			AGCACTGCCAGCATCATTTGT	0.398																																						dbGAP											0													78.0	78.0	78.0					2																	179583460		1968	4161	6129	-	-	-	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.23516C>T	2.37:g.179583460G>A	ENSP00000465570:p.Ala7839Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A6912V	ENST00000591111.1	37	c.20735		2	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942088	0.53079	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76069	0.3936	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77230	-0.2664	9	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	7839	Q8WZ42	TITIN_HUMAN	V	6912	ENSP00000343764:A6912V	ENSP00000343764:A6912V	A	-	2	0	TTN	179291705	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.348000	0.73009	2.861000	0.98227	0.650000	0.86243	GCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	31	0.00	0	G	NM_133378		179583460	179583460	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
UBQLN4	56893	genome.wustl.edu	37	1	156018375	156018375	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:156018375C>G	ENST00000368309.3	-	5	909	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	273					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGATGCTCTCAAGGTTGCTC	0.572																																						dbGAP											0													81.0	74.0	76.0					1																	156018375		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.817G>C	1.37:g.156018375C>G	ENSP00000357292:p.Glu273Gln		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.E273Q	ENST00000368309.3	37	c.817	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710162	0.89018	.	.	ENSG00000160803	ENST00000368309	T	0.80738	-1.41	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	L	0.41415	1.275	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.70227	0.897;0.968	D	0.83705	0.0184	10	0.56958	D	0.05	-12.9128	15.6449	0.77039	0.0:1.0:0.0:0.0	.	253;273	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	Q	273	ENSP00000357292:E273Q	ENSP00000357292:E273Q	E	-	1	0	UBQLN4	154284999	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.312000	0.78968	2.256000	0.74724	0.561000	0.74099	GAG	UBQLN4	-	NULL	ENSG00000160803		0.572	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	64	0.00	0	C	NM_020131		156018375	156018375	-1	no_errors	ENST00000368309	ensembl	human	known	69_37n	missense	220	18.82	51	SNP	1.000	G
UAP1	6675	genome.wustl.edu	37	1	162560143	162560143	+	Silent	SNP	A	A	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:162560143A>G	ENST00000367925.1	+	7	1232	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E	UAP1_ENST00000367926.4_Silent_p.E400E|UAP1_ENST00000271469.3_Silent_p.E400E|RP11-359K18.4_ENST00000609669.1_RNA|UAP1_ENST00000367924.1_Silent_p.E400E			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	400					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TATTGCGAGAAGATGAGTTTT	0.408																																						dbGAP											0													186.0	180.0	182.0					1																	162560143		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1200A>G	1.37:g.162560143A>G			B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	pfam_UDPGP_trans	p.E400	ENST00000367925.1	37	c.1200		1																																																																																			UAP1	-	pfam_UDPGP_trans	ENSG00000117143		0.408	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	75	0.00	0	A	NM_003115		162560143	162560143	+1	no_errors	ENST00000271469	ensembl	human	known	69_37n	silent	48	25.00	16	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	216173838	216173838	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr1:216173838C>G	ENST00000307340.3	-	33	6778	c.6392G>C	c.(6391-6393)aGt>aCt	p.S2131T	USH2A_ENST00000366943.2_Missense_Mutation_p.S2131T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2131	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCCAGGAACTGTTTGTACA	0.458										HNSCC(13;0.011)																												dbGAP											0													131.0	116.0	121.0					1																	216173838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6392G>C	1.37:g.216173838C>G	ENSP00000305941:p.Ser2131Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S2131T	ENST00000307340.3	37	c.6392	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559399	0.86335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62364	0.03;0.03	5.26	5.26	0.73747	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000088	T	0.81740	0.4886	M	0.87900	2.915	0.48087	D	0.999588	D	0.69078	0.997	D	0.75020	0.985	T	0.81780	-0.0776	10	0.34782	T	0.22	.	18.8869	0.92381	0.0:1.0:0.0:0.0	.	2131	O75445	USH2A_HUMAN	T	2131	ENSP00000305941:S2131T;ENSP00000355910:S2131T	ENSP00000305941:S2131T	S	-	2	0	USH2A	214240461	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	4.647000	0.61418	2.461000	0.83175	0.650000	0.86243	AGT	USH2A	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	37	0.00	0	C	NM_007123		216173838	216173838	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	G
WBP11	51729	genome.wustl.edu	37	12	14946765	14946765	+	Silent	SNP	A	A	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr12:14946765A>C	ENST00000261167.2	-	8	1046	c.813T>G	c.(811-813)acT>acG	p.T271T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	271	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTGTCATCAGTACTGTCAT	0.443																																						dbGAP											0													300.0	252.0	268.0					12																	14946765		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.813T>G	12.37:g.14946765A>C			Q96AY8	Missense_Mutation	SNP	pfam_WW_dom-bd_prot_11	p.L160R	ENST00000261167.2	37	c.479	CCDS8666.1	12																																																																																			WBP11	-	NULL	ENSG00000084463		0.443	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP11	HGNC	protein_coding	OTTHUMT00000400850.1	72	0.00	0	A	NM_016312		14946765	14946765	-1	no_errors	ENST00000535638	ensembl	human	known	69_37n	missense	19	71.21	47	SNP	1.000	C
UTP20	27340	genome.wustl.edu	37	12	101693781	101693781	+	Silent	SNP	C	C	G	rs146441448	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr12:101693781C>G	ENST00000261637.4	+	14	1791	c.1617C>G	c.(1615-1617)ctC>ctG	p.L539L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	539					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						TGATACCACTCGTCACCGGCT	0.443																																						dbGAP											0													211.0	205.0	207.0					12																	101693781		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.1617C>G	12.37:g.101693781C>G			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L539	ENST00000261637.4	37	c.1617	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.443	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	38	0.00	0	C	NM_014503		101693781	101693781	+1	no_errors	ENST00000261637	ensembl	human	known	69_37n	silent	12	58.62	17	SNP	0.000	G
ZBTB3	79842	genome.wustl.edu	37	11	62520833	62520833	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr11:62520833C>G	ENST00000394807.3	-	2	579	c.454G>C	c.(454-456)Gct>Cct	p.A152P		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	152					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						TAGCTGGCAGCTGCCAGCACA	0.572																																						dbGAP											0													81.0	83.0	82.0					11																	62520833		2202	4299	6501	-	-	-	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.454G>C	11.37:g.62520833C>G	ENSP00000378286:p.Ala152Pro			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.A152P	ENST00000394807.3	37	c.454	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415273	0.83449	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.74737	-0.87;-0.87	5.74	5.74	0.90152	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	H	0.98629	4.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.94685	0.7869	10	0.87932	D	0	.	17.4202	0.87513	0.0:1.0:0.0:0.0	.	152	Q9H5J0	ZBTB3_HUMAN	P	152;102	ENSP00000378286:A152P;ENSP00000432731:A102P	ENSP00000378286:A152P	A	-	1	0	ZBTB3	62277409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.700000	0.92200	0.561000	0.74099	GCT	ZBTB3	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000185670		0.572	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	26	0.00	0	C	NM_024784		62520833	62520833	-1	no_errors	ENST00000394807	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	1.000	G
ZC3H13	23091	genome.wustl.edu	37	13	46543510	46543510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr13:46543510delG	ENST00000242848.4	-	14	3517	c.3169delC	c.(3169-3171)cagfs	p.Q1057fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.Q1057fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.Q13fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1057							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTTTTTCTGGGAGTCCTCT	0.473																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													118.0	114.0	115.0					13																	46543510		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3169delC	13.37:g.46543510delG	ENSP00000242848:p.Gln1057fs		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q1057fs	ENST00000242848.4	37	c.3169		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.473	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	75	0.00	0	G	NM_015070		46543510	46543510	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.922	-
ZFYVE27	118813	genome.wustl.edu	37	10	99508101	99508101	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr10:99508101G>C	ENST00000393677.4	+	5	735	c.531G>C	c.(529-531)gaG>gaC	p.E177D	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E91D|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E177D|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E145D|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.E79D|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E177D|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E177D	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	177					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGCACTGGGAGAACCCCGTCG	0.612																																						dbGAP											0													71.0	54.0	60.0					10																	99508101		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.531G>C	10.37:g.99508101G>C	ENSP00000377282:p.Glu177Asp		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E177D	ENST00000393677.4	37	c.531	CCDS31263.1	10	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666741	0.47677	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.44881	0.92;0.91;1.45;1.45;1.46;1.45;1.47	5.43	3.58	0.41010	.	0.099034	0.64402	D	0.000002	T	0.28034	0.0691	L	0.29908	0.895	0.44660	D	0.997648	B;B;B;B;B;B	0.33940	0.001;0.001;0.009;0.433;0.001;0.147	B;B;B;B;B;B	0.26310	0.002;0.004;0.009;0.068;0.005;0.021	T	0.08027	-1.0742	10	0.66056	D	0.02	-10.5935	10.3383	0.43862	0.1411:0.0:0.8589:0.0	.	145;79;91;177;177;177	B7Z404;B7Z3S0;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	D	145;91;79;177;177;177;177;155	ENSP00000337993:E145D;ENSP00000359642:E79D;ENSP00000377282:E177D;ENSP00000401580:E177D;ENSP00000353069:E177D;ENSP00000348593:E177D;ENSP00000409594:E155D	ENSP00000337993:E145D	E	+	3	2	ZFYVE27	99498091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.024000	0.49674	0.675000	0.31264	0.563000	0.77884	GAG	ZFYVE27	-	NULL	ENSG00000155256		0.612	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2	23	0.00	0	G	NM_144588		99508101	99508101	+1	no_errors	ENST00000356257	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	C
ZNF423	23090	genome.wustl.edu	37	16	49671432	49671432	+	Frame_Shift_Del	DEL	C	C	-	rs34425379	byFrequency	TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr16:49671432delC	ENST00000561648.1	-	4	1684	c.1631delG	c.(1630-1632)ggcfs	p.G544fs	ZNF423_ENST00000262383.2_Frame_Shift_Del_p.G544fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.G484fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.G484fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.G427fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.G427fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.G484fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	544					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTTGGCACTGCCCACACTGCA	0.562																																						dbGAP											0													101.0	105.0	104.0					16																	49671432		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1631delG	16.37:g.49671432delC	ENSP00000455426:p.Gly544fs		O94860|Q76N04|Q9NZ13	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G544fs	ENST00000561648.1	37	c.1631	CCDS32445.1	16																																																																																			ZNF423	-	NULL	ENSG00000102935		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	62	0.00	0	C	NM_015069		49671432	49671432	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	frame_shift_del	57	41.00	41	DEL	0.994	-
ZNF66	7617	genome.wustl.edu	37	19	20989623	20989623	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:20989623T>G	ENST00000344519.8	+	4	1240	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	AC010329.1_ENST00000582722.1_RNA|ZNF66_ENST00000425625.1_Intron			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGCAAAGTGTTTAAGCACTCC	0.398																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.1217T>G	19.37:g.20989623T>G	ENSP00000461425:p.Phe406Cys		I3L4P5|Q15939	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.F406C	ENST00000344519.8	37	c.1217		19																																																																																			ZNF66P	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160229		0.398	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	11	0.00	0	T	NG_023377		20989623	20989623	+1	no_errors	ENST00000344519	ensembl	human	novel	69_37n	missense	18	48.57	17	SNP	0.388	G
ZNF607	84775	genome.wustl.edu	37	19	38189435	38189435	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:38189435A>T	ENST00000355202.4	-	5	2192	c.1597T>A	c.(1597-1599)Ttt>Att	p.F533I	ZNF607_ENST00000395835.3_Missense_Mutation_p.F532I|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	533					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTGCATTCAAAGGGTTTCTTA	0.403																																						dbGAP											0													74.0	70.0	71.0					19																	38189435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1597T>A	19.37:g.38189435A>T	ENSP00000347338:p.Phe533Ile		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.F533I	ENST00000355202.4	37	c.1597	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961927	0.74016	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.23552	1.9;1.9	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.62209	1.925	0.09310	N	1	P;D	0.58970	0.463;0.984	B;P	0.62184	0.194;0.899	T	0.12477	-1.0546	9	0.87932	D	0	.	9.1906	0.37197	1.0:0.0:0.0:0.0	.	533;532	Q96SK3;F5H141	ZN607_HUMAN;.	I	533;532	ENSP00000347338:F533I;ENSP00000438015:F532I	ENSP00000347338:F533I	F	-	1	0	ZNF607	42881275	0.002000	0.14202	0.453000	0.27007	0.595000	0.36748	1.826000	0.39092	1.028000	0.39785	0.459000	0.35465	TTT	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	42	0.00	0	A	NM_032689		38189435	38189435	-1	no_errors	ENST00000355202	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.214	T
ZNF544	27300	genome.wustl.edu	37	19	58758105	58758105	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr19:58758105C>G	ENST00000596652.1	+	5	423	c.189C>G	c.(187-189)atC>atG	p.I63M	ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Missense_Mutation_p.I63M|ZNF544_ENST00000599227.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.I63M|ZNF544_ENST00000333581.5_Missense_Mutation_p.I63M|ZNF544_ENST00000596597.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000594384.1_Intron|ZNF544_ENST00000596929.1_Missense_Mutation_p.I63M|ZNF544_ENST00000596825.1_Intron|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000599953.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	63	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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGATGTGATCTCTCAGCTGG	0.532																																						dbGAP											0													121.0	105.0	110.0					19																	58758105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.189C>G	19.37:g.58758105C>G	ENSP00000469635:p.Ile63Met		A8K6J1|Q9UEX4	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.I63M	ENST00000596652.1	37	c.189	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663018	0.29515	.	.	ENSG00000198131	ENST00000269829;ENST00000333581	T;T	0.00912	5.55;5.55	1.8	1.8	0.24995	Krueppel-associated box (3);	.	.	.	.	T	0.05318	0.0141	M	0.88105	2.93	0.23950	N	0.996375	D	0.63046	0.992	D	0.63488	0.915	T	0.08680	-1.0710	9	0.87932	D	0	.	9.6087	0.39650	0.0:1.0:0.0:0.0	.	63	Q6NX49	ZN544_HUMAN	M	63	ENSP00000269829:I63M;ENSP00000329320:I63M	ENSP00000269829:I63M	I	+	3	3	ZNF544	63449917	0.088000	0.21588	0.034000	0.17996	0.171000	0.22731	0.416000	0.21198	1.324000	0.45282	0.407000	0.27541	ATC	ZNF544	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198131		0.532	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	43	0.00	0	C	NM_014480		58758105	58758105	+1	no_errors	ENST00000269829	ensembl	human	known	69_37n	missense	39	49.35	38	SNP	0.811	G
ZNFX1	57169	genome.wustl.edu	37	20	47897041	47897041	+	5'Flank	SNP	C	C	A			TCGA-C8-A1HJ-01A-11D-A13L-09	TCGA-C8-A1HJ-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a62c3601-b90f-402f-8212-ffdfde3c6df8	913051a1-919a-436c-8fc2-9110968c19c3	g.chr20:47897041C>A	ENST00000396105.1	-	0	0				ZFAS1_ENST00000417721.1_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZNFX1_ENST00000371752.1_5'Flank|SNORD12C_ENST00000386307.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZNFX1_ENST00000371754.4_5'Flank|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000450535.1_RNA|SNORD12B_ENST00000410433.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCCAAAACCAGGCTTTGAT	0.448																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696		20.37:g.47897041C>A	Exception_encountered		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	RNA	SNP	-	NULL	ENST00000396105.1	37	NULL	CCDS13417.1	20																																																																																			ZNFX1-AS1	-	-	ENSG00000177410		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1-AS1	HGNC	protein_coding	OTTHUMT00000079647.2	34	0.00	0	C	NM_021035		47897041	47897041	+1	no_errors	ENST00000326677	ensembl	human	known	69_37n	rna	28	26.32	10	SNP	0.000	A
