#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC8	6833	genome.wustl.edu	37	11	17470166	17470166	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:17470166C>T	ENST00000389817.3	-	8	1297	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	ABCC8_ENST00000302539.4_Missense_Mutation_p.G410E			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	410	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGTCATTTCTCCCATGGACAG	0.438																																						dbGAP											0													183.0	171.0	175.0					11																	17470166		2200	4293	6493	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1229G>A	11.37:g.17470166C>T	ENSP00000374467:p.Gly410Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G410E	ENST00000389817.3	37	c.1229	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056191	0.76074	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.88354	-2.37;-2.37	4.61	4.61	0.57282	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93458	0.7913	M	0.72479	2.2	0.80722	D	1	P;D	0.54601	0.939;0.967	P;D	0.64687	0.574;0.928	D	0.93371	0.6735	10	0.49607	T	0.09	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	409;410	B7Z4N0;Q09428	.;ABCC8_HUMAN	E	410;410;424	ENSP00000374467:G410E;ENSP00000303960:G410E	ENSP00000303960:G410E	G	-	2	0	ABCC8	17426742	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.609000	0.82925	2.545000	0.85829	0.561000	0.74099	GGA	ABCC8	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000006071		0.438	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	92	0.00	0	C	NM_000352		17470166	17470166	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	104	36.20	59	SNP	1.000	T
ABR	29	genome.wustl.edu	37	17	1012303	1012303	+	Intron	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:1012303C>T	ENST00000302538.5	-	3	393				ABR_ENST00000544583.2_Intron|ABR_ENST00000291107.2_Silent_p.E2E|ABR_ENST00000574437.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCTTCCTCCTCCATGGCAG	0.697																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													34.0	26.0	29.0					17																	1012303		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.247-8328G>A	17.37:g.1012303C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.E2	ENST00000302538.5	37	c.6	CCDS10999.1	17																																																																																			ABR	-	NULL	ENSG00000159842		0.697	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	17	0.00	0	C			1012303	1012303	-1	no_errors	ENST00000291107	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.987	T
ADCY7	113	genome.wustl.edu	37	16	50326656	50326656	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:50326656G>C	ENST00000394697.2	+	5	947	c.607G>C	c.(607-609)Gat>Cat	p.D203H	ADCY7_ENST00000566433.2_Missense_Mutation_p.D203H|ADCY7_ENST00000254235.3_Missense_Mutation_p.D203H|ADCY7_ENST00000537579.1_Missense_Mutation_p.D203H|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.D203H			P51828	ADCY7_HUMAN	adenylate cyclase 7	203					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCAAATGCAGGATGCATCCCG	0.607																																						dbGAP											0													96.0	85.0	89.0					16																	50326656		2198	4300	6498	-	-	-	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.607G>C	16.37:g.50326656G>C	ENSP00000378187:p.Asp203His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D203H	ENST00000394697.2	37	c.607	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157156	0.38119	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81499	-0.94;-1.5;-0.99;-1.5	4.87	3.9	0.45041	.	0.152620	0.29616	U	0.011659	T	0.73289	0.3568	L	0.39898	1.24	0.40377	D	0.979403	B;B	0.28713	0.011;0.22	B;B	0.32149	0.025;0.141	T	0.67952	-0.5537	10	0.15499	T	0.54	.	15.206	0.73180	0.0:0.1413:0.8587:0.0	.	203;203	P51828;F5H4D1	ADCY7_HUMAN;.	H	203	ENSP00000445046:D203H;ENSP00000378187:D203H;ENSP00000437788:D203H;ENSP00000254235:D203H	ENSP00000254235:D203H	D	+	1	0	ADCY7	48884157	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	3.037000	0.49775	1.245000	0.43885	0.655000	0.94253	GAT	ADCY7	-	NULL	ENSG00000121281		0.607	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	32	0.00	0	G			50326656	50326656	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	1.000	C
ADNP2	22850	genome.wustl.edu	37	18	77895655	77895655	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr18:77895655G>A	ENST00000262198.4	+	4	2814	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	787					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGTCTTTCAGAGCACAGCAG	0.473																																						dbGAP											0													134.0	130.0	132.0					18																	77895655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2359G>A	18.37:g.77895655G>A	ENSP00000262198:p.Glu787Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E787K	ENST00000262198.4	37	c.2359	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042443	0.55003	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.355261	0.27076	N	0.021057	T	0.56963	0.2021	L	0.55481	1.735	0.43234	D	0.995139	P	0.46142	0.873	P	0.44990	0.466	T	0.56288	-0.8004	8	.	.	.	-26.4739	13.8068	0.63238	0.0:0.0:0.847:0.153	.	787	Q6IQ32	ADNP2_HUMAN	K	787	.	.	E	+	1	0	ADNP2	75996646	1.000000	0.71417	0.952000	0.39060	0.916000	0.54674	6.518000	0.73764	2.688000	0.91661	0.655000	0.94253	GAG	ADNP2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000101544		0.473	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	49	0.00	0	G	NM_014913		77895655	77895655	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	missense	36	37.93	22	SNP	0.996	A
ADRA2B	151	genome.wustl.edu	37	2	96781346	96781346	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:96781346G>C	ENST00000409345.3	-	1	638	c.543C>G	c.(541-543)ttC>ttG	p.F181L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	181					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGGAGCAAAGAAAGATCCGA	0.637																																						dbGAP											0													47.0	54.0	51.0					2																	96781346		2140	4261	6401	-	-	-	SO:0001583	missense	0			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.543C>G	2.37:g.96781346G>C	ENSP00000387281:p.Phe181Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.F181L	ENST00000409345.3	37	c.543	CCDS56129.1	2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863176	0.71949	.	.	ENSG00000222040	ENST00000409345	T	0.76578	-1.03	5.07	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.91486	0.7312	H	0.99058	4.415	0.58432	D	0.999994	D	0.76494	0.999	D	0.72625	0.978	D	0.90782	0.4680	9	0.87932	D	0	.	8.6749	0.34174	0.2065:0.0:0.7935:0.0	.	181	P18089	ADA2B_HUMAN	L	181	ENSP00000387281:F181L	ENSP00000387281:F181L	F	-	3	2	ADRA2B	96145073	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.800000	0.47900	0.589000	0.29677	0.456000	0.33151	TTC	ADRA2B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000222040		0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	31	0.00	0	G			96781346	96781346	-1	no_errors	ENST00000409345	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	C
ANGPTL2	23452	genome.wustl.edu	37	9	129851266	129851266	+	Silent	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:129851266G>C	ENST00000373425.3	-	5	2051	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L176L	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	478	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCACTTTCTTGAGTGAGTAAG	0.607																																						dbGAP											0													164.0	156.0	159.0					9																	129851266		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1434C>G	9.37:g.129851266G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT58|Q8NCH7	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L478	ENST00000373425.3	37	c.1434	CCDS6868.1	9																																																																																			ANGPTL2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000136859		0.607	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	77	0.00	0	G	NM_012098		129851266	129851266	-1	no_errors	ENST00000373425	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	1.000	C
ANKAR	150709	genome.wustl.edu	37	2	190593522	190593522	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:190593522C>T	ENST00000520309.1	+	15	3256	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Silent_p.I1056I|ANKAR_ENST00000431575.2_Silent_p.I985I|ANKAR_ENST00000313581.4_Silent_p.I1056I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1056						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCAGTGTCATCAGAGCAGTGG	0.368																																						dbGAP											0													137.0	127.0	131.0					2																	190593522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3168C>T	2.37:g.190593522C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.I1056	ENST00000520309.1	37	c.3168	CCDS33351.2	2																																																																																			ANKAR	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000151687		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	58	0.00	0	C	NM_144708		190593522	190593522	+1	no_errors	ENST00000313581	ensembl	human	known	69_37n	silent	103	34.39	54	SNP	1.000	T
AP2B1	163	genome.wustl.edu	37	17	34044241	34044241	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:34044241A>G	ENST00000262325.7	+	20	3165	c.2612A>G	c.(2611-2613)aAc>aGc	p.N871S	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.N847S|AP2B1_ENST00000589344.1_Missense_Mutation_p.N885S|AP2B1_ENST00000312678.8_Missense_Mutation_p.N885S|AP2B1_ENST00000538556.1_Missense_Mutation_p.N814S|AP2B1_ENST00000537622.2_Missense_Mutation_p.N885S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	871	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTGCAAAACAACAATGTTTAT	0.403																																						dbGAP											0													121.0	110.0	114.0					17																	34044241		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2612A>G	17.37:g.34044241A>G	ENSP00000262325:p.Asn871Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.N885S	ENST00000262325.7	37	c.2654	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916433	0.33815	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.37058	1.49;1.48;1.22;1.48	5.86	5.86	0.93980	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	N	0.04768	-0.165	0.80722	D	1	D;B;B;B	0.76494	0.999;0.298;0.007;0.16	P;B;B;B	0.52514	0.701;0.053;0.008;0.031	T	0.08330	-1.0727	10	0.06625	T	0.88	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	622;847;871;885	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	S	871;885;814;885;622	ENSP00000262325:N871S;ENSP00000314414:N885S;ENSP00000440563:N814S;ENSP00000437413:N885S	ENSP00000262325:N871S	N	+	2	0	AP2B1	31068354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.363000	0.66104	2.367000	0.80283	0.528000	0.53228	AAC	AP2B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C	ENSG00000006125		0.403	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	90	0.00	0	A			34044241	34044241	+1	no_errors	ENST00000312678	ensembl	human	known	69_37n	missense	92	39.07	59	SNP	1.000	G
AOC2	314	genome.wustl.edu	37	17	40997999	40997999	+	Silent	SNP	A	A	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:40997999A>T	ENST00000253799.3	+	1	1383	c.1356A>T	c.(1354-1356)tcA>tcT	p.S452S	AOC2_ENST00000452774.2_Silent_p.S452S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	452					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGCCAGCTCAGCCCTTGTGG	0.517																																						dbGAP											0													130.0	119.0	122.0					17																	40997999		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1356A>T	17.37:g.40997999A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.S452	ENST00000253799.3	37	c.1356	CCDS11443.1	17																																																																																			AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131480		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	113	0.00	0	A	NM_009590, NM_001158		40997999	40997999	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	silent	116	34.46	61	SNP	0.064	T
ARHGAP29	9411	genome.wustl.edu	37	1	94668277	94668277	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:94668277C>G	ENST00000260526.6	-	11	1148	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E322D	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	322					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGAGAGCATTCTCTGCTTCAA	0.363																																						dbGAP											0													129.0	116.0	121.0					1																	94668277		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.966G>C	1.37:g.94668277C>G	ENSP00000260526:p.Glu322Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.E322D	ENST00000260526.6	37	c.966	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288199	0.40494	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.45276	0.9;0.9	6.06	2.21	0.28008	.	0.000000	0.38959	N	0.001516	T	0.14056	0.0340	L	0.31752	0.955	0.44579	D	0.997542	B;P	0.39391	0.141;0.671	B;B	0.36464	0.041;0.225	T	0.03453	-1.1035	10	0.40728	T	0.16	-24.8546	9.4512	0.38727	0.0:0.6016:0.0:0.3984	.	322;322	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	D	322	ENSP00000260526:E322D;ENSP00000359237:E322D	ENSP00000260526:E322D	E	-	3	2	ARHGAP29	94440865	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	0.659000	0.24994	0.169000	0.19679	0.650000	0.86243	GAG	ARHGAP29	-	NULL	ENSG00000137962		0.363	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	117	0.00	0	C	NM_004815		94668277	94668277	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	65	59.88	97	SNP	0.983	G
ATP8B2	57198	genome.wustl.edu	37	1	154303324	154303324	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:154303324C>G	ENST00000368489.3	+	4	223	c.223C>G	c.(223-225)Ctc>Gtc	p.L75V	ATP8B2_ENST00000341822.2_Missense_Mutation_p.L61V|ATP8B2_ENST00000368487.3_Missense_Mutation_p.L42V|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	61					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTACAATATTCTCACCTTCCT	0.488																																						dbGAP											0													119.0	102.0	108.0					1																	154303324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.223C>G	1.37:g.154303324C>G	ENSP00000357475:p.Leu75Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L75V	ENST00000368489.3	37	c.223	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362091	0.41902	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.86562	-2.14;-2.14;-2.14	5.26	3.29	0.37713	.	0.254005	0.31660	N	0.007280	T	0.66982	0.2845	L	0.28344	0.845	0.30751	N	0.745106	B;B;B	0.19935	0.001;0.005;0.04	B;B;B	0.25291	0.004;0.018;0.059	T	0.57106	-0.7868	10	0.23302	T	0.38	.	13.5872	0.61937	0.0:0.5099:0.4901:0.0	.	61;75;42	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	V	42;75;61	ENSP00000357472:L42V;ENSP00000357475:L75V;ENSP00000340448:L61V	ENSP00000340448:L61V	L	+	1	0	ATP8B2	152569948	0.604000	0.26932	0.999000	0.59377	0.998000	0.95712	0.258000	0.18387	1.425000	0.47237	0.561000	0.74099	CTC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	76	0.00	0	C	NM_020452		154303324	154303324	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	107	30.52	47	SNP	1.000	G
ARHGEF11	9826	genome.wustl.edu	37	1	156915948	156915948	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:156915948C>T	ENST00000361409.2	-	28	3323	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E901K|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E277K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	861	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTGGCTCTCAGCCTCCTAG	0.582																																						dbGAP											0													30.0	29.0	29.0					1																	156915948		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2581G>A	1.37:g.156915948C>T	ENSP00000354644:p.Glu861Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E901K	ENST00000361409.2	37	c.2701	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740574	0.89573	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.64085	-0.08;-0.08;-0.08	4.54	4.54	0.55810	Dbl homology (DH) domain (5);	0.000000	0.56097	D	0.000023	T	0.80042	0.4551	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.83900	0.0289	10	0.72032	D	0.01	-23.642	17.4578	0.87612	0.0:1.0:0.0:0.0	.	277;861;901	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	K	901;861;277	ENSP00000357177:E901K;ENSP00000354644:E861K;ENSP00000313470:E277K	ENSP00000313470:E277K	E	-	1	0	ARHGEF11	155182572	1.000000	0.71417	0.968000	0.41197	0.528000	0.34623	7.581000	0.82535	2.527000	0.85204	0.650000	0.86243	GAG	ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000132694		0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	15	0.00	0	C	NM_198236		156915948	156915948	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	T
BDP1	55814	genome.wustl.edu	37	5	70766232	70766233	+	Frame_Shift_Ins	INS	-	-	T	rs567681041		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:70766232_70766233insT	ENST00000358731.4	+	7	1193_1194	c.930_931insT	c.(931-933)tttfs	p.F311fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	311	Myb-like.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACAGATATGTTTTTTTTAGC	0.292																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.938dupT	5.37:g.70766240_70766240dupT	ENSP00000351575:p.Phe311fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Ins	INS	superfamily_Homeodomain-like,smart_SANT/Myb	p.L312fs	ENST00000358731.4	37	c.930_931	CCDS43328.1	5																																																																																			BDP1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000145734		0.292	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	105	0.00	0	-	NM_018429		70766232	70766233	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	frame_shift_ins	94	38.56	59	INS	1.000:1.000	T
BRSK2	9024	genome.wustl.edu	37	11	1466828	1466828	+	Silent	SNP	C	C	T	rs572818298	byFrequency	TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:1466828C>T	ENST00000528841.1	+	11	1389	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	BRSK2_ENST00000531197.1_Silent_p.F335F|BRSK2_ENST00000528710.1_Silent_p.F275F|BRSK2_ENST00000308230.5_Silent_p.F335F|BRSK2_ENST00000544817.1_Silent_p.F30F|BRSK2_ENST00000526678.1_Silent_p.F335F|BRSK2_ENST00000308219.9_Silent_p.F335F|BRSK2_ENST00000382179.1_Silent_p.F381F			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	335	UBA.				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)		TGATTTACTTCCTCCTCCTGG	0.672													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14733	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													25.0	32.0	30.0					11																	1466828		1843	4032	5875	-	-	-	SO:0001819	synonymous_variant	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1005C>T	11.37:g.1466828C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F381	ENST00000528841.1	37	c.1143	CCDS58107.1	11																																																																																			BRSK2	-	superfamily_Kinase-like_dom	ENSG00000174672		0.672	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	15	0.00	0	C	NM_003957		1466828	1466828	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	T
C12orf36	283422	genome.wustl.edu	37	12	13526234	13526234	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:13526234C>T	ENST00000318426.2	-	3	538	c.321G>A	c.(319-321)ctG>ctA	p.L107L	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Silent_p.L107L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		GTCCACTCTTCAGCCTCTGAA	0.488																																						dbGAP											0													220.0	211.0	214.0					12																	13526234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.321G>A	12.37:g.13526234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L107	ENST00000318426.2	37	c.321		12																																																																																			C12orf36	-	NULL	ENSG00000180861		0.488	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	115	0.00	0	C	NM_182558		13526234	13526234	-1	no_errors	ENST00000318426	ensembl	human	known	69_37n	silent	149	40.87	103	SNP	0.000	T
C1QTNF2	114898	genome.wustl.edu	37	5	159776691	159776691	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:159776691G>A	ENST00000393975.3	-	3	480	c.477C>T	c.(475-477)aaC>aaT	p.N159N		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	114	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGGGTACCGTTGACCCCCT	0.692																																						dbGAP											0													51.0	59.0	56.0					5																	159776691		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.477C>T	5.37:g.159776691G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.N159	ENST00000393975.3	37	c.477	CCDS4351.2	5																																																																																			C1QTNF2	-	pfam_Collagen	ENSG00000145861		0.692	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	25	0.00	0	G			159776691	159776691	-1	no_errors	ENST00000393975	ensembl	human	known	69_37n	silent	10	62.07	18	SNP	0.569	A
C20orf173	140873	genome.wustl.edu	37	20	34116299	34116299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr20:34116299G>T	ENST00000246199.2	-	3	682	c.404C>A	c.(403-405)tCa>tAa	p.S135*	RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Nonsense_Mutation_p.S188*|C20orf173_ENST00000444723.1_Nonsense_Mutation_p.S188*			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	135										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TAGAGCATCTGAAGTCCACAC	0.562																																						dbGAP											0													136.0	115.0	121.0					20																	34116299		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.404C>A	20.37:g.34116299G>T	ENSP00000246199:p.Ser135*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVJ1|Q2M293|Q5JWS4|Q9H449	Nonsense_Mutation	SNP	NULL	p.S188*	ENST00000246199.2	37	c.563		20	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206244	0.58343	.	.	ENSG00000125975	ENST00000246199;ENST00000444723	.	.	.	2.94	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.46356	A	0.999002	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3386	0.21310	0.1425:0.0:0.8575:0.0	.	.	.	.	X	135;188	.	ENSP00000246199:S135X	S	-	2	0	C20orf173	33579713	0.000000	0.05858	0.993000	0.49108	0.124000	0.20399	0.211000	0.17474	0.789000	0.33779	0.563000	0.77884	TCA	C20orf173	-	NULL	ENSG00000125975		0.562	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	67	0.00	0	G	NM_001145350		34116299	34116299	-1	no_errors	ENST00000444723	ensembl	human	known	69_37n	nonsense	133	26.92	49	SNP	0.994	T
MAP3K7CL	56911	genome.wustl.edu	37	21	30464781	30464781	+	Silent	SNP	A	A	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr21:30464781A>G	ENST00000399947.2	+	6	526	c.249A>G	c.(247-249)gcA>gcG	p.A83A	MAP3K7CL_ENST00000399934.1_5'UTR|MAP3K7CL_ENST00000339024.4_5'UTR|MAP3K7CL_ENST00000341618.4_Silent_p.A83A|MAP3K7CL_ENST00000545939.1_5'UTR|MAP3K7CL_ENST00000496779.1_3'UTR|MAP3K7CL_ENST00000399935.2_5'UTR|MAP3K7CL_ENST00000286791.5_Silent_p.A83A	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	83						cytosol (GO:0005829)|nucleus (GO:0005634)											TATGCTCTGCAACAAGTTTGG	0.433																																						dbGAP											0													134.0	119.0	124.0					21																	30464781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.249A>G	21.37:g.30464781A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE0|Q8TCL9	Silent	SNP	NULL	p.A83	ENST00000399947.2	37	c.249	CCDS13584.1	21																																																																																			C21orf7	-	NULL	ENSG00000156265		0.433	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	C21orf7	HGNC	protein_coding	OTTHUMT00000171865.2	117	0.00	0	A	NM_020152		30464781	30464781	+1	no_errors	ENST00000341618	ensembl	human	known	69_37n	silent	233	12.08	32	SNP	0.719	G
CAPN3	825	genome.wustl.edu	37	15	42652049	42652049	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr15:42652049G>A	ENST00000397163.3	+	1	265	c.46G>A	c.(46-48)Gag>Aag	p.E16K	CAPN3_ENST00000357568.3_Missense_Mutation_p.E16K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.E16K|CAPN3_ENST00000349748.3_Missense_Mutation_p.E16K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	16					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GACAGCGGCTGAGCCCCGGTC	0.557																																						dbGAP											0													72.0	86.0	81.0					15																	42652049		2203	4299	6502	-	-	-	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.46G>A	15.37:g.42652049G>A	ENSP00000380349:p.Glu16Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.E16K	ENST00000397163.3	37	c.46	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470997	0.43942	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.87809	-2.3;-2.3;-2.18;-2.3	5.95	5.03	0.67393	.	0.260139	0.20075	U	0.099761	T	0.79246	0.4413	N	0.24115	0.695	0.29054	N	0.884333	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.11329	0.004;0.006;0.002	T	0.71368	-0.4614	10	0.44086	T	0.13	.	12.8702	0.57960	0.0745:0.0:0.9255:0.0	.	16;16;16	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	K	16	ENSP00000380349:E16K;ENSP00000350181:E16K;ENSP00000183936:E16K;ENSP00000326281:E16K	ENSP00000326281:E16K	E	+	1	0	CAPN3	40439341	1.000000	0.71417	0.997000	0.53966	0.440000	0.31957	5.169000	0.64984	2.817000	0.96982	0.563000	0.77884	GAG	CAPN3	-	NULL	ENSG00000092529		0.557	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	67	0.00	0	G			42652049	42652049	+1	no_errors	ENST00000397163	ensembl	human	known	69_37n	missense	39	35.00	21	SNP	0.997	A
CCAR1	55749	genome.wustl.edu	37	10	70482304	70482304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr10:70482304C>T	ENST00000265872.6	+	2	162	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.Q15*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.Q15*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	15					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.Q15*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATGGGCTACTCAGTTTACAGC	0.433																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											115.0	123.0	120.0					10																	70482304		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.43C>T	10.37:g.70482304C>T	ENSP00000265872:p.Gln15*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.Q15*	ENST00000265872.6	37	c.43	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.346057	0.98228	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000494903	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.8801	20.1777	0.98189	0.0:1.0:0.0:0.0	.	.	.	.	X	15;15;15;15;15;15;15;74	.	ENSP00000265872:Q15X	Q	+	1	0	CCAR1	70152310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.205000	0.72148	2.941000	0.99782	0.655000	0.94253	CAG	CCAR1	-	NULL	ENSG00000060339		0.433	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	118	0.00	0	C	NM_018237		70482304	70482304	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	nonsense	44	57.28	59	SNP	1.000	T
CCDC42	146849	genome.wustl.edu	37	17	8638833	8638833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:8638833C>A	ENST00000293845.3	-	5	815	c.589G>T	c.(589-591)Gag>Tag	p.E197*	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	197										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTGGCGCGCTCAATCTTCTCC	0.577																																						dbGAP											0													62.0	56.0	58.0					17																	8638833		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.589G>T	17.37:g.8638833C>A	ENSP00000293845:p.Glu197*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6Q0	Nonsense_Mutation	SNP	NULL	p.E197*	ENST00000293845.3	37	c.589	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.954214	0.97139	.	.	ENSG00000161973	ENST00000293845	.	.	.	5.51	5.51	0.81932	.	0.208574	0.33854	N	0.004487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-46.5233	18.3504	0.90336	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000293845:E197X	E	-	1	0	CCDC42	8579558	0.950000	0.32346	0.954000	0.39281	0.417000	0.31264	2.073000	0.41519	2.868000	0.98415	0.557000	0.71058	GAG	CCDC42	-	NULL	ENSG00000161973		0.577	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	43	0.00	0	C	NM_144681		8638833	8638833	-1	no_errors	ENST00000293845	ensembl	human	known	69_37n	nonsense	27	43.75	21	SNP	0.923	A
CCDC60	160777	genome.wustl.edu	37	12	119942952	119942952	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:119942952C>T	ENST00000327554.2	+	7	1192	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTCTGAGTCGGGCCAGTGG	0.557																																						dbGAP											0													88.0	96.0	93.0					12																	119942952		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.727C>T	12.37:g.119942952C>T	ENSP00000333374:p.Arg243Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R243W	ENST00000327554.2	37	c.727	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159588	0.38119	.	.	ENSG00000183273	ENST00000327554	T	0.31769	1.48	5.07	3.19	0.36642	.	0.300925	0.23881	N	0.043657	T	0.49372	0.1553	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40478	-0.9561	9	.	.	.	-26.1102	6.0296	0.19673	0.2046:0.6978:0.0:0.0976	.	243	Q8IWA6	CCD60_HUMAN	W	243	ENSP00000333374:R243W	.	R	+	1	2	CCDC60	118427335	0.940000	0.31905	0.915000	0.36163	0.019000	0.09904	1.386000	0.34419	0.479000	0.27511	-0.145000	0.13849	CGG	CCDC60	-	NULL	ENSG00000183273		0.557	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	24	0.00	0	C	NM_178499		119942952	119942952	+1	no_errors	ENST00000327554	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.821	T
CCT7	10574	genome.wustl.edu	37	2	73471840	73471840	+	Silent	SNP	C	C	T	rs377271042		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:73471840C>T	ENST00000258091.5	+	6	756	c.615C>T	c.(613-615)ctC>ctT	p.L205L	CCT7_ENST00000540468.1_Silent_p.L118L|CCT7_ENST00000539919.1_Silent_p.L161L|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Silent_p.L77L|CCT7_ENST00000537131.1_Silent_p.L105L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	205					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GTGGAGCCCTCGAGGTAAGCC	0.463																																						dbGAP											0													49.0	49.0	49.0					2																	73471840		2002	4178	6180	-	-	-	SO:0001819	synonymous_variant	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.615C>T	2.37:g.73471840C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.L205	ENST00000258091.5	37	c.615	CCDS46336.1	2																																																																																			CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.463	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	59	0.00	0	C			73471840	73471840	+1	no_errors	ENST00000258091	ensembl	human	known	69_37n	silent	68	38.39	43	SNP	0.572	T
CDH12	1010	genome.wustl.edu	37	5	21975470	21975470	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:21975470C>T	ENST00000382254.1	-	6	1342	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CDH12_ENST00000522262.1_Missense_Mutation_p.E86K|CDH12_ENST00000504376.2_Missense_Mutation_p.E86K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		E -> K (in dbSNP:rs7236).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACAGTGCCCTCTCCCTTGTCT	0.468										HNSCC(59;0.17)																												dbGAP											0													62.0	62.0	62.0					5																	21975470		2045	3887	5932	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.256G>A	5.37:g.21975470C>T	ENSP00000371689:p.Glu86Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E86K	ENST00000382254.1	37	c.256	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629003	0.67015	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51574	0.7;0.7;0.7	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.163489	0.53938	D	0.000057	T	0.43875	0.1267	L	0.48260	1.515	0.38883	D	0.956949	B;B	0.14012	0.005;0.009	B;B	0.24848	0.056;0.024	T	0.46762	-0.9168	10	0.87932	D	0	.	12.247	0.54576	0.0:0.9219:0.0:0.0781	.	86;86	B7Z2U6;P55289	.;CAD12_HUMAN	K	86	ENSP00000423577:E86K;ENSP00000371689:E86K;ENSP00000428786:E86K	ENSP00000371689:E86K	E	-	1	0	CDH12	22011227	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.696000	0.68287	2.472000	0.83506	0.484000	0.47621	GAG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	79	0.00	0	C	NM_004061		21975470	21975470	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	66	36.54	38	SNP	1.000	T
CDKL3	51265	genome.wustl.edu	37	5	133695701	133695701	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:133695701C>T	ENST00000265334.4	-	3	365	c.247G>A	c.(247-249)Gac>Aac	p.D83N	CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.D83N|CDKL3_ENST00000521118.1_Missense_Mutation_p.D83N|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.D83N|CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGTGTGGTCAATAAATTCA	0.328																																						dbGAP											0													84.0	75.0	78.0					5																	133695701		1811	4064	5875	-	-	-	SO:0001583	missense	0			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.247G>A	5.37:g.133695701C>T	ENSP00000265334:p.Asp83Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQA0|D3DQA1|Q9P114	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.D83N	ENST00000265334.4	37	c.247	CCDS47264.1	5	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868193	0.91587	.	.	ENSG00000006837	ENST00000265334;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.56262	0.1973	L	0.35793	1.09	0.51233	D	0.999918	P;D	0.76494	0.766;0.999	P;D	0.77004	0.583;0.989	T	0.57940	-0.7724	10	0.62326	D	0.03	.	17.8027	0.88592	0.0:1.0:0.0:0.0	.	83;83	E7ET86;Q8IVW4	.;CDKL3_HUMAN	N	83	ENSP00000265334:D83N;ENSP00000428689:D83N;ENSP00000430496:D83N;ENSP00000395559:D83N	ENSP00000265334:D83N	D	-	1	0	CDKL3	133723600	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.165000	0.58196	2.565000	0.86533	0.467000	0.42956	GAC	CDKL3	-	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	ENSG00000006837		0.328	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDKL3	HGNC	protein_coding	OTTHUMT00000377697.1	115	0.00	0	C	NM_001113575		133695701	133695701	-1	no_errors	ENST00000265334	ensembl	human	known	69_37n	missense	131	22.94	39	SNP	1.000	T
CHAF1A	10036	genome.wustl.edu	37	19	4442293	4442293	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:4442293G>A	ENST00000301280.5	+	14	2826	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	909	Binds to p60.|Poly-Glu.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaagaggaggaggG	0.602								Chromatin Structure																														dbGAP											0													123.0	85.0	98.0					19																	4442293		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2725G>A	19.37:g.4442293G>A	ENSP00000301280:p.Glu909Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.E909K	ENST00000301280.5	37	c.2725	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.201068	0.94997	.	.	ENSG00000167670	ENST00000301280	T	0.31247	1.5	5.02	5.02	0.67125	.	.	.	.	.	T	0.44414	0.1292	L	0.56769	1.78	0.47994	D	0.999565	D	0.55172	0.97	P	0.51833	0.681	T	0.45948	-0.9226	9	0.87932	D	0	-16.8438	17.6646	0.88200	0.0:0.0:1.0:0.0	.	909	Q13111	CAF1A_HUMAN	K	909	ENSP00000301280:E909K	ENSP00000301280:E909K	E	+	1	0	CHAF1A	4393293	1.000000	0.71417	0.863000	0.33907	0.822000	0.46500	7.426000	0.80270	2.484000	0.83849	0.561000	0.74099	GAG	CHAF1A	-	NULL	ENSG00000167670		0.602	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	72	0.00	0	G	NM_005483		4442293	4442293	+1	no_errors	ENST00000301280	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	A
CHRND	1144	genome.wustl.edu	37	2	233399028	233399028	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:233399028G>A	ENST00000258385.3	+	11	1379	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	CHRND_ENST00000457943.2_Missense_Mutation_p.M255I|CHRND_ENST00000543200.1_Missense_Mutation_p.M434I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	449					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TTAACCACATGAGGGACCAGA	0.502																																						dbGAP											0													74.0	73.0	74.0					2																	233399028		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1347G>A	2.37:g.233399028G>A	ENSP00000258385:p.Met449Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M449I	ENST00000258385.3	37	c.1347	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	g	13.72	2.319985	0.41096	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85088	-1.94;-1.94;-1.94	5.19	4.32	0.51571	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.081704	0.85682	D	0.000000	T	0.81074	0.4747	L	0.39085	1.19	0.50467	D	0.999871	B;B;B;B	0.26147	0.143;0.076;0.028;0.028	B;B;B;B	0.35607	0.206;0.038;0.011;0.011	T	0.75124	-0.3428	10	0.24483	T	0.36	.	14.0141	0.64515	0.0731:0.0:0.9269:0.0	.	255;434;449;449	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	I	434;449;255	ENSP00000438380:M434I;ENSP00000258385:M449I;ENSP00000391055:M255I	ENSP00000258385:M449I	M	+	3	0	CHRND	233107272	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	4.577000	0.60922	1.209000	0.43321	-0.378000	0.06908	ATG	CHRND	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000135902		0.502	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	55	0.00	0	G			233399028	233399028	+1	no_errors	ENST00000258385	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	0.995	A
CLMN	79789	genome.wustl.edu	37	14	95669924	95669924	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr14:95669924C>T	ENST00000298912.4	-	9	1875	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	588					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGTTTTGTCTCATGAGGTGAA	0.398																																						dbGAP											0													84.0	83.0	83.0					14																	95669924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1762G>A	14.37:g.95669924C>T	ENSP00000298912:p.Glu588Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E588K	ENST00000298912.4	37	c.1762	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726878	0.30593	.	.	ENSG00000165959	ENST00000298912	D	0.93189	-3.18	5.48	3.65	0.41850	.	0.175417	0.27622	N	0.018549	D	0.88991	0.6588	L	0.52364	1.645	0.09310	N	0.999995	B	0.12630	0.006	B	0.12156	0.007	T	0.79122	-0.1933	10	0.42905	T	0.14	.	6.3836	0.21548	0.0:0.6858:0.1495:0.1647	.	588	Q96JQ2	CLMN_HUMAN	K	588	ENSP00000298912:E588K	ENSP00000298912:E588K	E	-	1	0	CLMN	94739677	0.012000	0.17670	0.007000	0.13788	0.020000	0.10135	0.447000	0.21710	0.663000	0.31027	0.655000	0.94253	GAG	CLMN	-	NULL	ENSG00000165959		0.398	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	110	0.90	1	C			95669924	95669924	-1	no_errors	ENST00000298912	ensembl	human	known	69_37n	missense	57	46.30	50	SNP	0.004	T
CLN3	1201	genome.wustl.edu	37	16	28498999	28498999	+	Missense_Mutation	SNP	G	G	A	rs145749864		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:28498999G>A	ENST00000569430.1	-	7	1177	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	CLN3_ENST00000535392.1_Missense_Mutation_p.H42Y|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000354630.5_Missense_Mutation_p.H120Y|CLN3_ENST00000568224.1_Missense_Mutation_p.H42Y|CLN3_ENST00000567963.1_Missense_Mutation_p.H120Y|CLN3_ENST00000360019.2_Missense_Mutation_p.H120Y|CLN3_ENST00000355477.5_Missense_Mutation_p.H120Y|CLN3_ENST00000565316.1_Missense_Mutation_p.H120Y|CLN3_ENST00000357076.5_Missense_Mutation_p.H120Y|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.H66Y|CLN3_ENST00000333496.9_Missense_Mutation_p.H96Y|CLN3_ENST00000359984.7_Missense_Mutation_p.H120Y			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	120					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGCAGCAGGTGAAGGCCAAGA	0.597																																						dbGAP											0													112.0	72.0	86.0					16																	28498999		2197	4300	6497	-	-	-	SO:0001583	missense	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.358C>T	16.37:g.28498999G>A	ENSP00000454229:p.His120Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3	p.H120Y	ENST00000569430.1	37	c.358	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237878	0.79800	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000357076	T;T;T;T;T;T;D	0.96587	0.31;0.31;0.31;0.31;0.31;0.31;-4.06	5.68	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	M	0.83483	2.645	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.982;1.0;1.0;0.996	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.999;0.954;0.999;0.999;0.946	D	0.97680	1.0172	10	0.02654	T	1	-11.0499	13.9006	0.63802	0.0:0.0:0.8467:0.1533	.	96;120;120;171;66;120;120	B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95086;Q13286-2;Q13286	.;.;.;.;.;.;CLN3_HUMAN	Y	42;120;120;120;120;66;120	ENSP00000443221:H42Y;ENSP00000353073:H120Y;ENSP00000353116:H120Y;ENSP00000346650:H120Y;ENSP00000347660:H120Y;ENSP00000350523:H66Y;ENSP00000349586:H120Y	ENSP00000346650:H120Y	H	-	1	0	CLN3	28406500	1.000000	0.71417	0.945000	0.38365	0.965000	0.64279	7.726000	0.84824	1.406000	0.46857	0.556000	0.70494	CAC	CLN3	-	pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr	ENSG00000188603		0.597	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	49	0.00	0	G			28498999	28498999	-1	no_errors	ENST00000359984	ensembl	human	known	69_37n	missense	60	31.82	28	SNP	1.000	A
CNOT3	4849	genome.wustl.edu	37	19	54659091	54659091	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:54659091G>T	ENST00000406403.1	+	17	3811	c.2208G>T	c.(2206-2208)aaG>aaT	p.K736N	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.K736N			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	736	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCGGAAGAAGGAAGGCT	0.632																																						dbGAP											0													85.0	69.0	74.0					19																	54659091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2208G>T	19.37:g.54659091G>T	ENSP00000383954:p.Lys736Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.K736N	ENST00000406403.1	37	c.2208	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005018	0.74932	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.44482	0.92;0.92;0.92	4.77	3.72	0.42706	NOT2/NOT3/NOT5 (1);	0.158202	0.46145	D	0.000301	T	0.44623	0.1302	M	0.84326	2.69	0.80722	D	1	P	0.36909	0.573	B	0.36666	0.23	T	0.51204	-0.8735	10	0.72032	D	0.01	-22.2212	7.9416	0.29961	0.0844:0.0:0.7523:0.1633	.	736	O75175	CNOT3_HUMAN	N	736;736;71	ENSP00000221232:K736N;ENSP00000383954:K736N;ENSP00000420064:K71N	ENSP00000221232:K736N	K	+	3	2	CNOT3	59350903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	1.359000	0.45940	0.561000	0.74099	AAG	CNOT3	-	pfam_NOT,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	32	0.00	0	G	NM_014516		54659091	54659091	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
CNTNAP3B	728577	genome.wustl.edu	37	9	43853546	43853546	+	Silent	SNP	C	C	T	rs200740249		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:43853546C>T	ENST00000377564.3	+	12	2199	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	602	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGAACCCATCCGGGCTTTACT	0.463																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1806C>T	9.37:g.43853546C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P651L	ENST00000377564.3	37	c.1952	CCDS55312.1	9	.	.	.	.	.	.	.	.	.	.	C	0.341	-0.950353	0.02285	.	.	ENSG00000154529	ENST00000377561	.	.	.	3.24	-6.01	0.02199	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42310	-0.9459	4	.	.	.	.	2.353	0.04288	0.2578:0.1026:0.1006:0.539	.	.	.	.	L	651	.	.	P	+	2	0	CNTNAP3B	43793542	0.050000	0.20438	0.236000	0.24074	0.133000	0.20885	-0.869000	0.04232	-0.650000	0.05423	-1.621000	0.00791	CCG	CNTNAP3B	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000154529		0.463	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	20	0.00	0	C			43853546	43853546	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000377561	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.790	T
COL1A2	1278	genome.wustl.edu	37	7	94053669	94053669	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr7:94053669C>T	ENST00000297268.6	+	41	3058	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	863					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACTCCAGGTCCTCAGGGTCT	0.498										HNSCC(75;0.22)																												dbGAP											0													148.0	137.0	141.0					7																	94053669		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2587C>T	7.37:g.94053669C>T	ENSP00000297268:p.Pro863Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.P863S	ENST00000297268.6	37	c.2587	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160102	0.57368	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94046	-3.34	5.72	5.72	0.89469	.	0.114508	0.64402	D	0.000012	D	0.93579	0.7950	M	0.74647	2.275	0.51482	D	0.99992	B	0.14012	0.009	B	0.17098	0.017	D	0.89888	0.4035	10	0.87932	D	0	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	863	P08123	CO1A2_HUMAN	S	863;864	ENSP00000297268:P863S	ENSP00000297268:P863S	P	+	1	0	COL1A2	93891605	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.228000	0.51270	2.873000	0.98535	0.563000	0.77884	CCT	COL1A2	-	NULL	ENSG00000164692		0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	113	0.00	0	C	NM_000089		94053669	94053669	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	166	30.83	74	SNP	1.000	T
CYB5D2	124936	genome.wustl.edu	37	17	4060161	4060161	+	Splice_Site	SNP	G	G	T	rs370232168		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:4060161G>T	ENST00000301391.3	+	4	1080	c.580G>T	c.(580-582)Gga>Tga	p.G194*	CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Splice_Site_p.G82*|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	194					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TATCCTTAGTGGAGGTGTGAG	0.552											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													46.0	43.0	44.0					17																	4060161		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.579-1G>T	17.37:g.4060161G>T		Somatic	615	WXS	Illumina GAIIx	Phase_IV	B2R7R6|D3DTJ9|I3L1K2	Nonsense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.G194*	ENST00000301391.3	37	c.580	CCDS11044.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.236208	0.95240	.	.	ENSG00000167740	ENST00000301391	.	.	.	4.95	4.95	0.65309	.	0.115290	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2054	16.9081	0.86133	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000301391:G194X	G	+	1	0	CYB5D2	4006910	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.025000	0.76449	2.563000	0.86464	0.561000	0.74099	GGA	CYB5D2	-	NULL	ENSG00000167740		0.552	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D2	HGNC	protein_coding	OTTHUMT00000438698.1	34	0.00	0	G	NM_144611	Nonsense_Mutation	4060161	4060161	+1	no_errors	ENST00000301391	ensembl	human	known	69_37n	nonsense	30	25.00	10	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32257357	32257357	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr22:32257357G>A	ENST00000382112.3	+	32	3311	c.3241G>A	c.(3241-3243)Ggg>Agg	p.G1081R	DEPDC5_ENST00000494060.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1090R|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1090R|DEPDC5_ENST00000539165.1_Intron|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1012R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1090					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTTCAGGACGGGGCCTTCTT	0.562																																						dbGAP											0													71.0	63.0	65.0					22																	32257357		692	1591	2283	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3241G>A	22.37:g.32257357G>A	ENSP00000371546:p.Gly1081Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.G1090R	ENST00000382112.3	37	c.3268	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518514	0.44763	.	.	ENSG00000100150	ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111	T;T;T;T	0.34667	1.81;1.35;1.85;1.81	5.68	4.66	0.58398	.	0.000000	0.36740	U	0.002432	T	0.32315	0.0825	L	0.29908	0.895	0.80722	D	1	D;B;B;B	0.63046	0.992;0.006;0.36;0.238	P;B;B;B	0.51701	0.677;0.001;0.019;0.014	T	0.07597	-1.0764	10	0.05959	T	0.93	.	13.4073	0.60922	0.0765:0.0:0.9235:0.0	.	411;1090;476;1081	B4DSS1;B9EGN9;O75140-7;A8MPX9	.;.;.;.	R	1090;1012;1081;1090	ENSP00000383105:G1090R;ENSP00000371539:G1012R;ENSP00000371546:G1081R;ENSP00000371545:G1090R	ENSP00000371539:G1012R	G	+	1	0	DEPDC5	30587357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.209000	0.58493	1.407000	0.46875	-0.145000	0.13849	GGG	DEPDC5	-	NULL	ENSG00000100150		0.562	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	73	0.00	0	G	NM_014662		32257357	32257357	+1	no_errors	ENST00000400246	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	1.000	A
DIS3	22894	genome.wustl.edu	37	13	73351596	73351596	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr13:73351596C>T	ENST00000377767.4	-	4	716	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	DIS3_ENST00000377780.4_Missense_Mutation_p.E176K|DIS3_ENST00000545453.1_Missense_Mutation_p.E44K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	206					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCTATGAGTTCGGGGTTAGCA	0.299										Multiple Myeloma(4;0.011)																												dbGAP											0													116.0	110.0	112.0					13																	73351596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.616G>A	13.37:g.73351596C>T	ENSP00000366997:p.Glu206Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.E206K	ENST00000377767.4	37	c.616	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209146	0.58343	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.24350	1.86;1.87;1.86	5.46	5.46	0.80206	.	0.093283	0.64402	D	0.000001	T	0.31827	0.0809	M	0.72624	2.21	0.80722	D	1	P;P	0.46142	0.873;0.683	B;B	0.38985	0.287;0.149	T	0.11372	-1.0590	10	0.29301	T	0.29	.	19.6594	0.95859	0.0:1.0:0.0:0.0	.	176;206	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	206;176;44	ENSP00000366997:E206K;ENSP00000367011:E176K;ENSP00000440058:E44K	ENSP00000366997:E206K	E	-	1	0	DIS3	72249597	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	6.836000	0.75349	2.725000	0.93324	0.591000	0.81541	GAA	DIS3	-	NULL	ENSG00000083520		0.299	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	131	0.00	0	C	NM_014953		73351596	73351596	-1	no_errors	ENST00000377767	ensembl	human	known	69_37n	missense	262	14.66	45	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	36003351	36003351	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:36003351G>A	ENST00000339686.3	-	3	832	c.656C>T	c.(655-657)tCa>tTa	p.S219L	DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.S219L|DMKN_ENST00000429837.1_Missense_Mutation_p.S219L|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.S219L|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S219L|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.S219L|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.S219L|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.S219L|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000392206.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	219	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTCTCACTGAACCATAGCC	0.582																																						dbGAP											0													52.0	53.0	52.0					19																	36003351		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.656C>T	19.37:g.36003351G>A	ENSP00000342012:p.Ser219Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.S219L	ENST00000339686.3	37	c.656	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	G	11.97	1.799057	0.31777	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.59	3.56	0.40772	.	1.076900	0.07384	N	0.887889	T	0.46852	0.1414	M	0.66939	2.045	0.09310	N	1	P;P;P;P;P;P;P	0.50819	0.939;0.939;0.939;0.939;0.939;0.939;0.939	P;P;P;P;P;P;P	0.45829	0.494;0.494;0.494;0.494;0.494;0.494;0.494	T	0.43261	-0.9402	10	0.72032	D	0.01	-0.6562	7.9291	0.29891	0.1086:0.0:0.8914:0.0	.	219;219;219;219;219;219;219	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	L	219	ENSP00000342012:S219L;ENSP00000405503:S219L;ENSP00000391036:S219L;ENSP00000394908:S219L;ENSP00000415277:S219L;ENSP00000414743:S219L;ENSP00000388404:S219L;ENSP00000409513:S219L	ENSP00000342012:S219L	S	-	2	0	DMKN	40695191	0.145000	0.22656	0.016000	0.15963	0.005000	0.04900	2.620000	0.46410	2.536000	0.85505	0.655000	0.94253	TCA	DMKN	-	NULL	ENSG00000161249		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	73	0.00	0	G	NM_033317		36003351	36003351	-1	no_errors	ENST00000339686	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	0.006	A
DYRK2	8445	genome.wustl.edu	37	12	68051050	68051050	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:68051050G>A	ENST00000344096.3	+	3	776	c.363G>A	c.(361-363)gtG>gtA	p.V121V	DYRK2_ENST00000393555.3_Silent_p.V48V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	121					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCTTGCCAGTGGTGCCAGAGC	0.542																																						dbGAP											0													82.0	70.0	74.0					12																	68051050		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.363G>A	12.37:g.68051050G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V9|Q9BRB5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V121	ENST00000344096.3	37	c.363	CCDS8978.1	12																																																																																			DYRK2	-	NULL	ENSG00000127334		0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	HGNC	protein_coding	OTTHUMT00000402218.1	44	0.00	0	G			68051050	68051050	+1	no_errors	ENST00000344096	ensembl	human	known	69_37n	silent	64	21.95	18	SNP	0.056	A
EEF2	1938	genome.wustl.edu	37	19	3980544	3980544	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:3980544C>T	ENST00000309311.6	-	9	1402	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	438					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCTCCTTCTTCCCAGGGG	0.607																																					Colon(165;1804 1908 4071 6587 18799)	dbGAP											0													68.0	64.0	66.0					19																	3980544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1314G>A	19.37:g.3980544C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.K438	ENST00000309311.6	37	c.1314	CCDS12117.1	19																																																																																			EEF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000167658		0.607	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	40	0.00	0	C	NM_001961		3980544	3980544	-1	no_errors	ENST00000309311	ensembl	human	known	69_37n	silent	46	13.21	7	SNP	1.000	T
CRACR2A	84766	genome.wustl.edu	37	12	3757680	3757680	+	Silent	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:3757680C>G	ENST00000252322.1	-	11	1614	c.1146G>C	c.(1144-1146)ctG>ctC	p.L382L	EFCAB4B_ENST00000444507.1_Intron|EFCAB4B_ENST00000440314.2_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		382					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGTGCTCTCAGCACAGGCC	0.597																																						dbGAP											0													67.0	60.0	62.0					12																	3757680		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000252322.1:c.1146G>C	12.37:g.3757680C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1X0|B9EK63	Nonstop_Mutation	SNP	NULL	p.*185S	ENST00000252322.1	37	c.554	CCDS8522.1	12																																																																																			EFCAB4B	-	NULL	ENSG00000130038		0.597	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	20	0.00	0	C			3757680	3757680	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000333750	ensembl	human	known	69_37n	nonstop	13	31.58	6	SNP	0.000	G
ELMO2	63916	genome.wustl.edu	37	20	44999096	44999096	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr20:44999096G>A	ENST00000290246.6	-	20	2064	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ELMO2_ENST00000372176.1_Silent_p.L536L|ELMO2_ENST00000454865.2_Silent_p.L356L|ELMO2_ENST00000396391.1_Silent_p.L624L|ELMO2_ENST00000352077.2_Silent_p.L622L|ELMO2_ENST00000439931.2_Silent_p.L636L|ELMO2_ENST00000445496.2_Silent_p.L441L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	624	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCTGTTTCAGAGCACTTTTC	0.458																																						dbGAP											0													246.0	192.0	210.0					20																	44999096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1870C>T	20.37:g.44999096G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L636	ENST00000290246.6	37	c.1906	CCDS13398.1	20																																																																																			ELMO2	-	NULL	ENSG00000062598		0.458	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	134	0.00	0	G	NM_022086		44999096	44999096	-1	no_errors	ENST00000439931	ensembl	human	known	69_37n	silent	319	13.32	49	SNP	1.000	A
FAM186A	121006	genome.wustl.edu	37	12	50754707	50754707	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:50754707C>T	ENST00000327337.5	-	3	414	c.415G>A	c.(415-417)Gat>Aat	p.D139N	FAM186A_ENST00000543111.1_Missense_Mutation_p.D139N	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	139																	GACAAAACATCATCTTGAAGA	0.328																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													139.0	102.0	114.0					12																	50754707		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.415G>A	12.37:g.50754707C>T	ENSP00000329995:p.Asp139Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D139N	ENST00000327337.5	37	c.415	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663602	0.29515	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.11277	2.79;2.79	4.82	-1.79	0.07932	.	.	.	.	.	T	0.07324	0.0185	L	0.36672	1.1	0.28108	N	0.931121	B	0.06786	0.001	B	0.01281	0.0	T	0.34775	-0.9815	9	0.56958	D	0.05	.	2.9755	0.05936	0.407:0.2434:0.2659:0.0837	.	139	A6NE01	F186A_HUMAN	N	139	ENSP00000441337:D139N;ENSP00000329995:D139N	ENSP00000329995:D139N	D	-	1	0	FAM186A	49040974	0.008000	0.16893	0.022000	0.16811	0.019000	0.09904	-0.354000	0.07681	-0.186000	0.10533	0.650000	0.86243	GAT	FAM186A	-	NULL	ENSG00000185958		0.328	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	72	0.00	0	C	XM_001718353		50754707	50754707	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	0.012	T
ERBB3	2065	genome.wustl.edu	37	12	56489535	56489535	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:56489535G>T	ENST00000267101.3	+	17	2440	c.2000G>T	c.(1999-2001)cGt>cTt	p.R667L	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R24L|ERBB3_ENST00000415288.2_Missense_Mutation_p.R608L|ERBB3_ENST00000553131.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	667					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCTACTGGCGTGGGCGCCGG	0.433																																						dbGAP											0													145.0	134.0	138.0					12																	56489535		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2000G>T	12.37:g.56489535G>T	ENSP00000267101:p.Arg667Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R667L	ENST00000267101.3	37	c.2000	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.247920	0.95305	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.79940	-1.32;-1.27;-1.31	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000007	D	0.90710	0.7085	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91960	0.5578	10	0.87932	D	0	.	17.4523	0.87595	0.0:0.0:1.0:0.0	.	608;667	P21860-4;P21860	.;ERBB3_HUMAN	L	667;24;608	ENSP00000267101:R667L;ENSP00000399178:R24L;ENSP00000408340:R608L	ENSP00000267101:R667L	R	+	2	0	ERBB3	54775802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.384000	0.79751	2.656000	0.90262	0.655000	0.94253	CGT	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.433	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	104	0.00	0	G			56489535	56489535	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	107	31.85	50	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187541561	187541561	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:187541561G>A	ENST00000441802.2	-	10	6388	c.6179C>T	c.(6178-6180)tCt>tTt	p.S2060F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2060	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCCACTGCAGAAGGCTTATG	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													166.0	162.0	164.0					4																	187541561		1996	4160	6156	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6179C>T	4.37:g.187541561G>A	ENSP00000406229:p.Ser2060Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,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.S2060F	ENST00000441802.2	37	c.6179	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023546	0.08006	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02709	4.19	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.564233	0.18917	N	0.127588	T	0.11324	0.0276	L	0.54323	1.7	0.46044	D	0.998831	P	0.40107	0.703	P	0.54312	0.748	T	0.00655	-1.1624	10	0.66056	D	0.02	.	18.9233	0.92534	0.0:0.0:1.0:0.0	.	2060	Q14517	FAT1_HUMAN	F	2060;2062	ENSP00000406229:S2060F	ENSP00000260147:S2062F	S	-	2	0	FAT1	187778555	0.997000	0.39634	0.438000	0.26821	0.005000	0.04900	5.160000	0.64929	2.700000	0.92200	0.563000	0.77884	TCT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	66	0.00	0	G	NM_005245		187541561	187541561	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	37	53.16	42	SNP	0.915	A
FGD4	121512	genome.wustl.edu	37	12	32793219	32793219	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:32793219G>A	ENST00000427716.2	+	17	2477	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	FGD4_ENST00000525053.1_Missense_Mutation_p.A797T|FGD4_ENST00000534526.2_Missense_Mutation_p.A822T|FGD4_ENST00000531134.1_Missense_Mutation_p.A770T|FGD4_ENST00000546442.1_Missense_Mutation_p.A592T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	685	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGACGTCAGAGCCCAGGCCAC	0.488																																						dbGAP											0													139.0	134.0	136.0					12																	32793219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2053G>A	12.37:g.32793219G>A	ENSP00000394487:p.Ala685Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,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.A685T	ENST00000427716.2	37	c.2053	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571076	0.86542	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000086	T	0.36991	0.0987	M	0.64997	1.995	0.80722	D	1	P;P;D	0.89917	0.933;0.933;1.0	P;P;D	0.75484	0.897;0.897;0.986	T	0.10019	-1.0648	10	0.66056	D	0.02	-11.148	18.6238	0.91330	0.0:0.0:1.0:0.0	.	797;770;685	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	T	822;770;685;592;797	ENSP00000449273:A822T;ENSP00000431323:A770T;ENSP00000394487:A685T;ENSP00000446695:A592T;ENSP00000433666:A797T	ENSP00000394487:A685T	A	+	1	0	FGD4	32684486	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.218000	0.95166	2.386000	0.81285	0.563000	0.77884	GCC	FGD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000139132		0.488	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	36	0.00	0	G	NM_139241		32793219	32793219	+1	no_errors	ENST00000427716	ensembl	human	known	69_37n	missense	36	46.38	32	SNP	1.000	A
FLG	2312	genome.wustl.edu	37	1	152279012	152279012	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:152279012C>G	ENST00000368799.1	-	3	8385	c.8350G>C	c.(8350-8352)Gac>Cac	p.D2784H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAATGGTGTCCTGACCGTCT	0.602									Ichthyosis																													dbGAP											0													421.0	551.0	507.0					1																	152279012		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8350G>C	1.37:g.152279012C>G	ENSP00000357789:p.Asp2784His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D2784H	ENST00000368799.1	37	c.8350	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.858052	0.17178	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01705	4.68	2.68	-3.04	0.05412	.	.	.	.	.	T	0.01189	0.0039	M	0.77820	2.39	0.09310	N	1	D	0.53462	0.96	B	0.43728	0.429	T	0.28618	-1.0038	9	0.62326	D	0.03	8.0E-4	7.7116	0.28682	0.0:0.3737:0.0:0.6263	.	2784	P20930	FILA_HUMAN	H	2784;46	ENSP00000357789:D2784H	ENSP00000357786:D46H	D	-	1	0	FLG	150545636	0.280000	0.24249	0.000000	0.03702	0.066000	0.16364	0.628000	0.24522	-0.757000	0.04697	0.306000	0.20318	GAC	FLG	-	NULL	ENSG00000143631		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	428	0.00	0	C	NM_002016		152279012	152279012	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	1037	21.02	276	SNP	0.000	G
FLAD1	80308	genome.wustl.edu	37	1	154961309	154961309	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:154961309C>G	ENST00000292180.3	+	2	1423	c.1101C>G	c.(1099-1101)taC>taG	p.Y367*	FLAD1_ENST00000368432.1_Nonsense_Mutation_p.Y270*|FLAD1_ENST00000368431.3_Nonsense_Mutation_p.Y268*|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.Y268*|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Nonsense_Mutation_p.Y270*|FLAD1_ENST00000368433.1_Nonsense_Mutation_p.Y367*|FLAD1_ENST00000295530.2_Nonsense_Mutation_p.Y100*	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	367					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGCTGTATACAAACTCGCTG	0.587																																						dbGAP											0													50.0	48.0	48.0					1																	154961309		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1101C>G	1.37:g.154961309C>G	ENSP00000292180:p.Tyr367*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.Y367*	ENST00000292180.3	37	c.1101	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.898350	0.97081	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	.	.	.	5.65	3.79	0.43588	.	0.059163	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8999	8.8066	0.34941	0.0:0.7126:0.0:0.2874	.	.	.	.	X	367;270;270;268;367;268;100	.	ENSP00000292180:Y367X	Y	+	3	2	FLAD1	153227933	0.992000	0.36948	0.718000	0.30602	0.989000	0.77384	2.101000	0.41787	0.943000	0.37553	0.655000	0.94253	TAC	FLAD1	-	pirsf_FAD_synth_Mopterin-bd	ENSG00000160688		0.587	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	12	0.00	0	C	NM_025207		154961309	154961309	+1	no_errors	ENST00000292180	ensembl	human	known	69_37n	nonsense	10	47.37	9	SNP	0.970	G
FOXP1	27086	genome.wustl.edu	37	3	71026112	71026112	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr3:71026112G>C	ENST00000318789.4	-	17	2035	c.1510C>G	c.(1510-1512)Cgc>Ggc	p.R504G	FOXP1_ENST00000498215.1_Missense_Mutation_p.R504G|FOXP1_ENST00000484350.1_Missense_Mutation_p.R428G|FOXP1_ENST00000468577.1_Missense_Mutation_p.R504G|FOXP1_ENST00000493089.1_Missense_Mutation_p.R503G|FOXP1_ENST00000475937.1_Missense_Mutation_p.R504G|FOXP1_ENST00000491238.1_Missense_Mutation_p.R506G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	504					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GCCGCGTTGCGTCGGAAGTAA	0.428			T	PAX5	ALL																																	dbGAP		Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													156.0	143.0	147.0					3																	71026112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1510C>G	3.37:g.71026112G>C	ENSP00000318902:p.Arg504Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R504G	ENST00000318789.4	37	c.1510	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221768	0.79464	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	L	0.41415	1.275	0.80722	D	1	B;D;P;B	0.61697	0.385;0.99;0.948;0.356	P;P;P;P	0.58210	0.596;0.835;0.661;0.494	D	0.96105	0.9072	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	503;503;428;504	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	G	504;316;504;400;506;503;504;428;504	ENSP00000318902:R504G;ENSP00000419393:R504G;ENSP00000418225:R400G;ENSP00000420736:R506G;ENSP00000418524:R503G;ENSP00000418102:R504G;ENSP00000417857:R428G;ENSP00000418883:R504G	ENSP00000318902:R504G	R	-	1	0	FOXP1	71108802	1.000000	0.71417	0.993000	0.49108	0.900000	0.52787	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	CGC	FOXP1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000114861		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	89	0.00	0	G	NM_032682		71026112	71026112	-1	no_errors	ENST00000318789	ensembl	human	known	69_37n	missense	39	57.14	52	SNP	1.000	C
FOXP3	50943	genome.wustl.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682																																					GBM(182;1432 2112 16160 23073 31774)	dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.341G>A	X.37:g.49113997C>T	ENSP00000365380:p.Arg114Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.R114Q	ENST00000376207.4	37	c.341	CCDS14323.1	X	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	FOXP3	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG	FOXP3	-	NULL	ENSG00000049768		0.682	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	85	0.00	0	C	NM_014009		49113997	49113997	-1	no_errors	ENST00000376207	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.981	T
G6PC	2538	genome.wustl.edu	37	17	41053005	41053005	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:41053005G>A	ENST00000253801.2	+	1	191	c.112G>A	c.(112-114)Gac>Aac	p.D38N	G6PC_ENST00000585489.1_Missense_Mutation_p.D38N|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Missense_Mutation_p.D38N	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	38			D -> V (in GSD1A). {ECO:0000269|PubMed:10070617, ECO:0000269|PubMed:11058903, ECO:0000269|PubMed:12373566, ECO:0000269|PubMed:8733042}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTGATCGCAGACCTCAGGAA	0.493																																						dbGAP											0													168.0	138.0	148.0					17																	41053005		2203	4300	6503	-	-	-	SO:0001583	missense	0			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.112G>A	17.37:g.41053005G>A	ENSP00000253801:p.Asp38Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.D38N	ENST00000253801.2	37	c.112	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010981	0.93346	.	.	ENSG00000131482	ENST00000253801	D	0.83075	-1.68	5.27	5.27	0.74061	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.050572	0.85682	D	0.000000	D	0.91462	0.7305	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92056	0.5652	10	0.87932	D	0	.	19.078	0.93171	0.0:0.0:1.0:0.0	.	40;38	E7ENG5;P35575	.;G6PC_HUMAN	N	38	ENSP00000253801:D38N	ENSP00000253801:D38N	D	+	1	0	G6PC	38306531	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	9.557000	0.98129	2.740000	0.93945	0.650000	0.86243	GAC	G6PC	-	superfamily_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	ENSG00000131482		0.493	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	67	0.00	0	G	NM_000151		41053005	41053005	+1	no_errors	ENST00000253801	ensembl	human	known	69_37n	missense	76	41.67	55	SNP	1.000	A
GDAP1L1	78997	genome.wustl.edu	37	20	42885803	42885803	+	Missense_Mutation	SNP	T	T	G	rs199568067		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr20:42885803T>G	ENST00000342560.5	+	2	279	c.191T>G	c.(190-192)gTg>gGg	p.V64G	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V64G|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	64	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTGCGGCTGGTGATCGCCGAG	0.706																																						dbGAP											0													32.0	23.0	26.0					20																	42885803		2201	4294	6495	-	-	-	SO:0001583	missense	0				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.191T>G	20.37:g.42885803T>G	ENSP00000341782:p.Val64Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.V64G	ENST00000342560.5	37	c.191	CCDS13328.1	20	.	.	.	.	.	.	.	.	.	.	T	17.36	3.371025	0.61624	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952	T;T;T	0.26810	1.71;1.71;1.71	5.55	5.55	0.83447	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.057940	0.64402	D	0.000002	T	0.46210	0.1381	L	0.55017	1.72	0.80722	D	1	D;D;D;D	0.89917	0.999;0.984;0.98;1.0	D;P;P;D	0.91635	0.997;0.88;0.779;0.999	T	0.22836	-1.0205	10	0.36615	T	0.2	.	15.532	0.75970	0.0:0.0:0.0:1.0	.	64;64;64;10	B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.;.;GD1L1_HUMAN;.	G	64;62;64;33;64;64	ENSP00000341782:V64G;ENSP00000392881:V64G;ENSP00000362043:V64G	ENSP00000341782:V64G	V	+	2	0	GDAP1L1	42319217	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.651000	0.61447	2.333000	0.79357	0.533000	0.62120	GTG	GDAP1L1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000124194		0.706	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	13	0.00	0	T	NM_024034		42885803	42885803	+1	no_errors	ENST00000342560	ensembl	human	known	69_37n	missense	10	69.70	23	SNP	1.000	G
GPR12	2835	genome.wustl.edu	37	13	27333626	27333626	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr13:27333626C>T	ENST00000381436.2	-	1	801	c.339G>A	c.(337-339)aaG>aaA	p.K113K	GPR12_ENST00000405846.3_Silent_p.K113K			P47775	GPR12_HUMAN	G protein-coupled receptor 12	113					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCGTGACCAGCTTGGTGGCTT	0.537																																						dbGAP											0													108.0	102.0	104.0					13																	27333626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.339G>A	13.37:g.27333626C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8P3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn	p.K113	ENST00000381436.2	37	c.339	CCDS9319.1	13																																																																																			GPR12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt	ENSG00000132975		0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	34	0.00	0	C			27333626	27333626	-1	no_errors	ENST00000381436	ensembl	human	known	69_37n	silent	16	62.79	27	SNP	1.000	T
GRHL3	57822	genome.wustl.edu	37	1	24657969	24657969	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:24657969C>G	ENST00000350501.5	+	2	198	c.71C>G	c.(70-72)tCt>tGt	p.S24C	GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.S24C|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.S29C	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	24					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGAAATTCTCTTACACTAGT	0.473																																						dbGAP											0													128.0	120.0	122.0					1																	24657969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.71C>G	1.37:g.24657969C>G	ENSP00000288955:p.Ser24Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S24C	ENST00000350501.5	37	c.71	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735803	0.89482	.	.	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000236255	T;T;T	0.52983	0.64;0.64;0.64	5.93	5.93	0.95920	.	0.471543	0.23314	N	0.049532	T	0.55481	0.1923	L	0.55481	1.735	0.80722	D	1	P;P	0.47484	0.896;0.878	P;P	0.48368	0.539;0.575	T	0.54262	-0.8320	10	0.52906	T	0.07	-12.5384	19.3291	0.94278	0.0:1.0:0.0:0.0	.	29;24	Q8TE85-2;G3XAF0	.;.	C	24;24;29	ENSP00000354943:S24C;ENSP00000288955:S24C;ENSP00000236255:S29C	ENSP00000236255:S29C	S	+	2	0	GRHL3	24530556	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	7.616000	0.83018	2.814000	0.96858	0.655000	0.94253	TCT	GRHL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000158055		0.473	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	77	0.00	0	C	NM_021180		24657969	24657969	+1	no_errors	ENST00000350501	ensembl	human	known	69_37n	missense	40	53.49	46	SNP	1.000	G
HIATL1	84641	genome.wustl.edu	37	9	97209196	97209197	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:97209196_97209197insT	ENST00000375344.3	+	7	1090_1091	c.821_822insT	c.(820-825)agttttfs	p.SF274fs	HIATL1_ENST00000428393.2_Frame_Shift_Ins_p.SF209fs	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	274					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CAGTATTCAAGTTTTTTTCTCT	0.376																																					Pancreas(77;1260 1915 1973 10423)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.828dupT	9.37:g.97209203_97209203dupT	ENSP00000364493:p.Ser274fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.L277fs	ENST00000375344.3	37	c.821_822	CCDS6710.2	9																																																																																			HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000148110		0.376	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	123	0.00	0	-	NM_032558		97209196	97209197	+1	no_errors	ENST00000375344	ensembl	human	known	69_37n	frame_shift_ins	78	48.68	74	INS	1.000:1.000	T
HIP1R	9026	genome.wustl.edu	37	12	123333101	123333101	+	Silent	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:123333101C>G	ENST00000253083.4	+	3	371	c.246C>G	c.(244-246)ctC>ctG	p.L82L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	82	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCTCCATTCTCAGCTGGAAGT	0.607																																						dbGAP											0													77.0	65.0	69.0					12																	123333101		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.246C>G	12.37:g.123333101C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.L82	ENST00000253083.4	37	c.246	CCDS31922.1	12																																																																																			HIP1R	-	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	ENSG00000130787		0.607	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	37	0.00	0	C	NM_003959		123333101	123333101	+1	no_errors	ENST00000253083	ensembl	human	known	69_37n	silent	56	13.85	9	SNP	1.000	G
HIST1H3B	8358	genome.wustl.edu	37	6	26032006	26032006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:26032006C>A	ENST00000244661.2	-	1	282	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	95					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TCACAAGCCTCCTGCAGCGCC	0.562																																						dbGAP											0													72.0	73.0	73.0					6																	26032006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.283G>T	6.37:g.26032006C>A	ENSP00000244661:p.Glu95*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95*	ENST00000244661.2	37	c.283	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	15.22	2.767842	0.49680	.	.	ENSG00000124693	ENST00000244661	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000244661:E95X	E	-	1	0	HIST1H3B	26139985	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.562	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	41	0.00	0	C	NM_003537		26032006	26032006	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	nonsense	81	19.80	20	SNP	1.000	A
HS3ST4	9951	genome.wustl.edu	37	16	26147270	26147270	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:26147270G>A	ENST00000331351.5	+	2	1464	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	358					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)		TGTCAGTGGTGAGCGACTCAT	0.498																																						dbGAP											0													102.0	100.0	100.0					16																	26147270		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.1072G>A	16.37:g.26147270G>A	ENSP00000330606:p.Glu358Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QI42|Q8NDC2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E358K	ENST00000331351.5	37	c.1072	CCDS53995.1	16	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943516	0.92593	.	.	ENSG00000182601	ENST00000331351	T	0.70749	-0.51	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.88596	0.6479	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90721	0.4635	10	0.59425	D	0.04	.	18.5023	0.90887	0.0:0.0:1.0:0.0	.	358	Q9Y661	HS3S4_HUMAN	K	358	ENSP00000330606:E358K	ENSP00000330606:E358K	E	+	1	0	HS3ST4	26054771	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	9.823000	0.99369	2.602000	0.87976	0.655000	0.94253	GAG	HS3ST4	-	pfam_Sulfotransferase_dom	ENSG00000182601		0.498	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	38	0.00	0	G	NM_006040		26147270	26147270	+1	no_errors	ENST00000331351	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71098725	71098725	+	Silent	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:71098725G>C	ENST00000393567.2	-	16	2244	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	HYDIN_ENST00000448691.1_Silent_p.L698L|HYDIN_ENST00000538248.1_Silent_p.L725L|HYDIN_ENST00000541601.1_Silent_p.L715L|HYDIN_ENST00000321489.5_Silent_p.L698L|HYDIN_ENST00000448089.2_Silent_p.L698L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	698					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACCAGGTGGAGGGCAGGTA	0.498																																						dbGAP											0													24.0	22.0	23.0					16																	71098725		2196	4281	6477	-	-	-	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2094C>G	16.37:g.71098725G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L698	ENST00000393567.2	37	c.2094	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	56	0.00	0	G			71098725	71098725	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	30	56.52	39	SNP	0.101	C
IL7R	3575	genome.wustl.edu	37	5	35857117	35857117	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:35857117C>G	ENST00000303115.3	+	1	167	c.38C>G	c.(37-39)tCt>tGt	p.S13C	IL7R_ENST00000343305.4_Missense_Mutation_p.S13C|IL7R_ENST00000511031.1_Intron|IL7R_ENST00000511982.1_Missense_Mutation_p.S13C|IL7R_ENST00000506850.1_Missense_Mutation_p.S13C	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	13					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGGTTTTTTCTTTACTTCAA	0.373			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															dbGAP		Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													241.0	225.0	231.0					5																	35857117		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.38C>G	5.37:g.35857117C>G	ENSP00000306157:p.Ser13Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.S13C	ENST00000303115.3	37	c.38	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492197	0.26774	.	.	ENSG00000168685	ENST00000508941;ENST00000515665;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.47	0.0406	0.14210	.	0.735226	0.13181	N	0.407560	T	0.40791	0.1131	N	0.02539	-0.55	0.22571	N	0.998976	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23940	-1.0174	10	0.39692	T	0.17	-7.8931	0.2815	0.00245	0.4096:0.1628:0.215:0.2126	.	13;13	D6RGV2;P16871	.;IL7RA_HUMAN	C	13	ENSP00000426426:S13C;ENSP00000425538:S13C;ENSP00000306157:S13C;ENSP00000345819:S13C;ENSP00000421207:S13C;ENSP00000425309:S13C	ENSP00000306157:S13C	S	+	2	0	IL7R	35892874	0.997000	0.39634	0.998000	0.56505	0.924000	0.55760	0.231000	0.17872	0.082000	0.17018	-0.262000	0.10625	TCT	IL7R	-	NULL	ENSG00000168685		0.373	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	247	0.00	0	C			35857117	35857117	+1	no_errors	ENST00000303115	ensembl	human	known	69_37n	missense	446	20.21	113	SNP	0.998	G
INSIG2	51141	genome.wustl.edu	37	2	118864687	118864687	+	Silent	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:118864687C>G	ENST00000245787.4	+	5	764	c.558C>G	c.(556-558)ctC>ctG	p.L186L	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	186					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CAGATTTCCTCTATGTTCGTT	0.363																																						dbGAP											0													152.0	144.0	147.0					2																	118864687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.558C>G	2.37:g.118864687C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W8|Q8TBI8	Silent	SNP	pfam_INSIG_fam	p.L186	ENST00000245787.4	37	c.558	CCDS2122.1	2																																																																																			INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.363	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	141	0.00	0	C	NM_016133		118864687	118864687	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	silent	137	34.45	72	SNP	0.995	G
IQCA1	79781	genome.wustl.edu	37	2	237308074	237308074	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:237308074C>T	ENST00000409907.3	-	9	1466	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.G394R|IQCA1_ENST00000431676.2_Missense_Mutation_p.G357R	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	398	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCGTTACATCCTTCCTTCATT	0.468																																						dbGAP											0													159.0	155.0	156.0					2																	237308074		1955	4156	6111	-	-	-	SO:0001583	missense	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1192G>A	2.37:g.237308074C>T	ENSP00000387347:p.Gly398Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.G398R	ENST00000409907.3	37	c.1192	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289435|2.289435	0.40494|0.40494	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.94184|.	-3.22;-3.22;-3.37|.	3.85|3.85	3.85|3.85	0.44370|0.44370	.|.	0.128339|.	0.35179|.	N|.	0.003393|.	T|T	0.71484|0.71484	0.3345|0.3345	M|M	0.67569|0.67569	2.06|2.06	0.39546|0.39546	D|D	0.968895|0.968895	P;P;P|.	0.52692|.	0.599;0.955;0.599|.	B;P;B|.	0.55667|.	0.18;0.781;0.19|.	T|T	0.73190|0.73190	-0.4061|-0.4061	10|5	0.25106|.	T|.	0.35|.	.|.	14.825|14.825	0.70104|0.70104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	357;405;398|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	R|K	398;405;394;357;394|416	ENSP00000387347:G398R;ENSP00000311951:G394R;ENSP00000407213:G357R|.	ENSP00000254653:G398R|.	G|R	-|-	1|2	0|0	IQCA1|IQCA1	236972813|236972813	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.199000|0.199000	0.23934|0.23934	4.324000|4.324000	0.59228|0.59228	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGA|AGG	IQCA1	-	NULL	ENSG00000132321		0.468	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	98	0.00	0	C	NM_024726		237308074	237308074	-1	no_errors	ENST00000409907	ensembl	human	known	69_37n	missense	106	29.80	45	SNP	0.985	T
IQCJ-SCHIP1	100505385	genome.wustl.edu	37	3	159605599	159605599	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr3:159605599G>A	ENST00000460298.1	+	5	1220	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E135K|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E416K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E443K|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E354K|SCHIP1_ENST00000482804.1_Missense_Mutation_p.E140K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E124K|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.E367K					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ATTGCAAGCTGAAGCCAAAAT	0.443																																						dbGAP											0													109.0	113.0	111.0					3																	159605599		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.979G>A	3.37:g.159605599G>A	ENSP00000417305:p.Glu327Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SCHIP_1	p.E443K	ENST00000460298.1	37	c.1327		3	.	.	.	.	.	.	.	.	.	.	G	36	5.638516	0.96693	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.996;0.998;0.999;0.998	D;D;D;D;D;D	0.83275	0.996;0.992;0.981;0.994;0.996;0.994	T	0.75880	-0.3161	10	0.87932	D	0	.	19.3285	0.94273	0.0:0.0:1.0:0.0	.	327;140;124;354;367;443	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	K	416;443;367;354;135;327;124;140	ENSP00000418692:E416K;ENSP00000420182:E443K;ENSP00000337239:E367K;ENSP00000400942:E354K;ENSP00000436076:E135K;ENSP00000417305:E327K;ENSP00000404860:E124K;ENSP00000419230:E140K	ENSP00000337239:E367K	E	+	1	0	SCHIP1;IQCJ-SCHIP1	161088293	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.282000	0.95840	2.636000	0.89361	0.655000	0.94253	GAA	IQCJ-SCHIP1	-	pfam_SCHIP_1	ENSG00000250588		0.443	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	54	0.00	0	G	NM_001197113		159605599	159605599	+1	no_errors	ENST00000485419	ensembl	human	known	69_37n	missense	65	32.65	32	SNP	1.000	A
KCNA4	3739	genome.wustl.edu	37	11	30032528	30032528	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:30032528G>T	ENST00000328224.6	-	2	2931	c.1698C>A	c.(1696-1698)ttC>ttA	p.F566L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	566					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTCTGTGGTAGAAATAGTTAA	0.468																																						dbGAP											0													69.0	74.0	72.0					11																	30032528		2061	4218	6279	-	-	-	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1698C>A	11.37:g.30032528G>T	ENSP00000328511:p.Phe566Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.F566L	ENST00000328224.6	37	c.1698	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861375	0.51482	.	.	ENSG00000182255	ENST00000328224	D	0.97066	-4.23	5.69	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	M	0.81179	2.53	0.80722	D	1	P	0.41848	0.763	B	0.43728	0.429	D	0.96529	0.9391	10	0.87932	D	0	.	11.3824	0.49766	0.1374:0.0:0.8626:0.0	.	566	P22459	KCNA4_HUMAN	L	566	ENSP00000328511:F566L	ENSP00000328511:F566L	F	-	3	2	KCNA4	29989104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.244000	0.51399	2.679000	0.91253	0.650000	0.86243	TTC	KCNA4	-	NULL	ENSG00000182255		0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	45	0.00	0	G	NM_002233		30032528	30032528	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	1.000	T
GPALPP1	55425	genome.wustl.edu	37	13	45563856	45563856	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr13:45563856G>A	ENST00000379151.4	+	1	170	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	GPALPP1_ENST00000361121.2_Missense_Mutation_p.E23K|NUFIP1_ENST00000379161.4_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	23																	AGCGGAGGACGAAGAGCGGGA	0.687																																						dbGAP											0													35.0	41.0	39.0					13																	45563856		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.67G>A	13.37:g.45563856G>A	ENSP00000368447:p.Glu23Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	pfam_DUF3752	p.E23K	ENST00000379151.4	37	c.67	CCDS9394.1	13	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301149	0.60195	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.54	3.81	0.43845	.	0.658746	0.16098	N	0.229727	T	0.38321	0.1036	L	0.43152	1.355	0.33903	D	0.638797	B	0.10296	0.003	B	0.06405	0.002	T	0.38134	-0.9675	9	0.07990	T	0.79	-15.6398	7.8712	0.29567	0.0851:0.1605:0.7544:0.0	.	23	Q8IXQ4	K1704_HUMAN	K	23	.	ENSP00000355211:E23K	E	+	1	0	KIAA1704	44461856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.748000	0.26305	0.882000	0.36016	0.650000	0.86243	GAA	KIAA1704	-	NULL	ENSG00000133114		0.687	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1704	HGNC	protein_coding	OTTHUMT00000044749.2	15	0.00	0	G	NM_018559		45563856	45563856	+1	no_errors	ENST00000361121	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	1.000	A
KIF16B	55614	genome.wustl.edu	37	20	16496280	16496280	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr20:16496280C>T	ENST00000354981.2	-	4	418	c.261G>A	c.(259-261)gtG>gtA	p.V87V	KIF16B_ENST00000408042.1_Silent_p.V87V|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.V87V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	87	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATGCAGACTTCACGACATCTG	0.373																																						dbGAP											0													107.0	96.0	100.0					20																	16496280		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.261G>A	20.37:g.16496280C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V87	ENST00000354981.2	37	c.261	CCDS13122.1	20																																																																																			KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.373	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	81	0.00	0	C	NM_017683		16496280	16496280	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	silent	104	34.18	54	SNP	1.000	T
KIF6	221458	genome.wustl.edu	37	6	39507966	39507966	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:39507966C>G	ENST00000287152.7	-	13	1552	c.1458G>C	c.(1456-1458)aaG>aaC	p.K486N	KIF6_ENST00000373216.3_Missense_Mutation_p.K486N|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.K325N|KIF6_ENST00000373215.3_Missense_Mutation_p.K486N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	486					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAGCTTTCTTCTTTTCTTTTT	0.433																																						dbGAP											0													106.0	111.0	109.0					6																	39507966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1458G>C	6.37:g.39507966C>G	ENSP00000287152:p.Lys486Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K486N	ENST00000287152.7	37	c.1458	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.557778|4.557778	0.86231|0.86231	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|.	0.73469|.	-0.75;-0.73;-0.59;-0.74|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|.	.|.	.|.	.|.	T|T	0.66317|0.66317	0.2777|0.2777	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.993;0.999|.	D;P;D|.	0.85130|.	0.997;0.823;0.994|.	T|T	0.60989|0.60989	-0.7153|-0.7153	9|5	0.46703|.	T|.	0.11|.	.|.	18.3732|18.3732	0.90420|0.90420	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	486;486;486|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	N|T	486;486;325;486|378	ENSP00000287152:K486N;ENSP00000362312:K486N;ENSP00000362309:K325N;ENSP00000362311:K486N|.	ENSP00000287152:K486N|.	K|R	-|-	3|2	2|0	KIF6|KIF6	39615944|39615944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.084000|1.084000	0.30828|0.30828	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AAG|AGA	KIF6	-	NULL	ENSG00000164627		0.433	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	71	0.00	0	C	NM_145027		39507966	39507966	-1	no_errors	ENST00000287152	ensembl	human	known	69_37n	missense	72	23.40	22	SNP	1.000	G
KLHL15	80311	genome.wustl.edu	37	X	24024511	24024511	+	Silent	SNP	G	G	A	rs528490470		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chrX:24024511G>A	ENST00000328046.8	-	3	555	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	100					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TCTCATGAACGGTATTCATAC	0.398																																						dbGAP											0													121.0	107.0	112.0					X																	24024511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.300C>T	X.37:g.24024511G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T100	ENST00000328046.8	37	c.300	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000174010		0.398	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	87	0.00	0	G	XM_040383		24024511	24024511	-1	no_errors	ENST00000328046	ensembl	human	known	69_37n	silent	65	48.00	60	SNP	0.303	A
LAMA2	3908	genome.wustl.edu	37	6	129835646	129835646	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:129835646C>T	ENST00000421865.2	+	64	9166	c.9117C>T	c.(9115-9117)ctC>ctT	p.L3039L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3039	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATTGAGCTCACAGTCGATG	0.507																																						dbGAP											0													188.0	150.0	163.0					6																	129835646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9117C>T	6.37:g.129835646C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L3039	ENST00000421865.2	37	c.9117	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	39	0.00	0	C			129835646	129835646	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	silent	61	37.11	36	SNP	0.999	T
LDB2	9079	genome.wustl.edu	37	4	16504411	16504411	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:16504411G>A	ENST00000304523.5	-	8	1300	c.977C>T	c.(976-978)aCg>aTg	p.T326M	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	326	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCATATTGCGTGTTTTCTAA	0.537																																						dbGAP											0													238.0	209.0	219.0					4																	16504411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.977C>T	4.37:g.16504411G>A	ENSP00000306772:p.Thr326Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60619|O75480	Missense_Mutation	SNP	NULL	p.T326M	ENST00000304523.5	37	c.977	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030178|3.030178	0.54790|0.54790	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.26810	.|1.71;1.71	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.50531|0.50531	0.1621|0.1621	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;P;D	.|0.75020	.|0.985;0.899;0.891;0.949	T|T	0.43491|0.43491	-0.9388|-0.9388	5|10	.|0.45353	.|T	.|0.12	-13.6093|-13.6093	18.3199|18.3199	0.90234|0.90234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;324;326;300	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	C|M	247|324;326	.|ENSP00000422552:T324M;ENSP00000306772:T326M	.|ENSP00000306772:T326M	R|T	-|-	1|2	0|0	LDB2|LDB2	16113509|16113509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|ACG	LDB2	-	NULL	ENSG00000169744		0.537	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	112	0.00	0	G			16504411	16504411	-1	no_errors	ENST00000304523	ensembl	human	known	69_37n	missense	45	63.71	79	SNP	1.000	A
LPAR6	10161	genome.wustl.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.F316F	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338																																						dbGAP											19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											77.0	82.0	80.0					13																	48985612		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.948C>T	13.37:g.48985612G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y5_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.F316	ENST00000378434.4	37	c.948	CCDS9410.1	13																																																																																			LPAR6	-	NULL	ENSG00000139679		0.338	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR6	HGNC	protein_coding	OTTHUMT00000276280.2	40	0.00	0	G	NM_005767		48985612	48985612	-1	no_errors	ENST00000345941	ensembl	human	known	69_37n	silent	43	21.43	12	SNP	1.000	A
LRR1	122769	genome.wustl.edu	37	14	50069163	50069163	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr14:50069163C>T	ENST00000298288.6	+	2	583	c.259C>T	c.(259-261)Cct>Tct	p.P87S	LRR1_ENST00000318317.4_Missense_Mutation_p.P87S|LRR1_ENST00000557531.1_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	87					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAAGGAGCCTCCTGTGGATAT	0.338																																						dbGAP											0													108.0	108.0	108.0					14																	50069163		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.259C>T	14.37:g.50069163C>T	ENSP00000298288:p.Pro87Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P87S	ENST00000298288.6	37	c.259	CCDS9686.1	14	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079217	0.20227	.	.	ENSG00000165501	ENST00000298288;ENST00000361579;ENST00000318317	T	0.39056	1.1	5.99	1.9	0.25705	.	0.252745	0.45867	N	0.000331	T	0.27313	0.0670	L	0.33293	1	0.38598	D	0.950585	P;P;B	0.40230	0.666;0.708;0.376	B;B;B	0.38264	0.162;0.269;0.049	T	0.09100	-1.0690	10	0.09084	T	0.74	-5.4002	11.8316	0.52299	0.0:0.2857:0.6327:0.0815	.	87;87;87	A8MSW2;Q96L50-2;Q96L50	.;.;LLR1_HUMAN	S	87	ENSP00000298288:P87S	ENSP00000298288:P87S	P	+	1	0	LRR1	49138913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.512000	0.35812	0.393000	0.25203	0.549000	0.68633	CCT	LRR1	-	NULL	ENSG00000165501		0.338	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	103	0.00	0	C	NM_203467		50069163	50069163	+1	no_errors	ENST00000298288	ensembl	human	known	69_37n	missense	46	61.02	72	SNP	0.999	T
MORF4L1	10933	genome.wustl.edu	37	15	79179664	79179664	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr15:79179664C>G	ENST00000331268.5	+	6	617	c.413C>G	c.(412-414)tCt>tGt	p.S138C	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000379535.4_Missense_Mutation_p.S124C|MORF4L1_ENST00000426013.2_Missense_Mutation_p.S99C|MORF4L1_ENST00000558502.1_Missense_Mutation_p.S11C|MORF4L1_ENST00000559345.1_Missense_Mutation_p.S11C|MORF4L1_ENST00000561171.1_3'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	138	Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAGAAGACATCTGGTCTGCAA	0.358																																						dbGAP											0													85.0	87.0	86.0					15																	79179664		2196	4293	6489	-	-	-	SO:0001583	missense	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.413C>G	15.37:g.79179664C>G	ENSP00000331310:p.Ser138Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_Hist_Nua4_cplx_EAF3/MRG15_su	p.S138C	ENST00000331268.5	37	c.413	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223214	0.79464	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.46063	0.88;0.88;1.32	5.38	4.43	0.53597	.	0.341749	0.30347	N	0.009828	T	0.38427	0.1040	N	0.24115	0.695	0.35173	D	0.771717	P;P;P	0.39003	0.472;0.654;0.626	B;P;B	0.45377	0.336;0.478;0.289	T	0.55159	-0.8184	10	0.62326	D	0.03	1.3049	14.9293	0.70903	0.0:0.8571:0.1429:0.0	.	124;99;138	B3KTM8;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	C	124;99;138	ENSP00000368850:S124C;ENSP00000408880:S99C;ENSP00000331310:S138C	ENSP00000331310:S138C	S	+	2	0	MORF4L1	76966719	1.000000	0.71417	0.584000	0.28653	0.996000	0.88848	6.983000	0.76180	2.528000	0.85240	0.591000	0.81541	TCT	MORF4L1	-	pirsf_Hist_Nua4_cplx_EAF3/MRG15_su	ENSG00000185787		0.358	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	47	0.00	0	C	NM_006791		79179664	79179664	+1	no_errors	ENST00000331268	ensembl	human	known	69_37n	missense	64	32.63	31	SNP	0.992	G
MUC16	94025	genome.wustl.edu	37	19	9059785	9059785	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:9059785C>T	ENST00000397910.4	-	3	27864	c.27661G>A	c.(27661-27663)Gag>Aag	p.E9221K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9223	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGTTTCTCTGTATCTGTA	0.468																																						dbGAP											0													117.0	112.0	114.0					19																	9059785		1984	4173	6157	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27661G>A	19.37:g.9059785C>T	ENSP00000381008:p.Glu9221Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E9221K	ENST00000397910.4	37	c.27661	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	6.820	0.520496	0.13005	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	1.91	0.851	0.18989	.	.	.	.	.	T	0.21103	0.0508	L	0.27053	0.805	.	.	.	B	0.27166	0.17	B	0.19391	0.025	T	0.21690	-1.0238	8	0.87932	D	0	.	3.7191	0.08449	0.0:0.7522:0.0:0.2478	.	9221	B5ME49	.	K	9221	ENSP00000381008:E9221K	ENSP00000381008:E9221K	E	-	1	0	MUC16	8920785	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.032000	0.12266	0.354000	0.24105	0.291000	0.19559	GAG	MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	116	0.00	0	C	NM_024690		9059785	9059785	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	83	53.11	94	SNP	0.001	T
MUC5B	727897	genome.wustl.edu	37	11	1254384	1254384	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:1254384C>T	ENST00000529681.1	+	18	2265	c.2207C>T	c.(2206-2208)gCg>gTg	p.A736V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A739V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	736	TIL 2.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTGCCCCGCGGGCACCTTC	0.692																																						dbGAP											0													20.0	25.0	24.0					11																	1254384		2057	4185	6242	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2207C>T	11.37:g.1254384C>T	ENSP00000436812:p.Ala736Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A739V	ENST00000529681.1	37	c.2216	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425423	0.25639	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.90955	-2.76;-2.76	4.86	-9.71	0.00518	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.78464	0.4287	L	0.31371	0.925	0.09310	N	1	B;B;B	0.27732	0.009;0.187;0.187	B;B;B	0.19391	0.003;0.015;0.025	T	0.66085	-0.6011	9	0.87932	D	0	.	3.6762	0.08292	0.235:0.4824:0.1871:0.0955	.	736;1395;739	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	V	736;739;737;772	ENSP00000436812:A736V;ENSP00000415793:A739V	ENSP00000343037:A737V	A	+	2	0	MUC5B	1210960	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.411000	0.07142	-2.086000	0.00863	0.313000	0.20887	GCG	MUC5B	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000117983		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	22	0.00	0	C	XM_001126093		1254384	1254384	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.000	T
MUC7	4589	genome.wustl.edu	37	4	71347020	71347020	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:71347020G>A	ENST00000304887.5	+	3	749	c.559G>A	c.(559-561)Gag>Aag	p.E187K	MUC7_ENST00000413702.1_Missense_Mutation_p.E187K|MUC7_ENST00000456088.1_Missense_Mutation_p.E187K	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	187	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E187Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.587																																						dbGAP											1	Substitution - Missense(1)	lung(1)											333.0	269.0	291.0					4																	71347020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.559G>A	4.37:g.71347020G>A	ENSP00000302021:p.Glu187Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.E187K	ENST00000304887.5	37	c.559	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	G	8.440	0.850587	0.17034	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.48522	0.81;0.81;0.81	2.1	0.112	0.14623	.	.	.	.	.	T	0.22551	0.0544	N	0.24115	0.695	0.09310	N	1	P	0.41848	0.763	B	0.33196	0.159	T	0.10989	-1.0606	8	.	.	.	.	0.9536	0.01381	0.1514:0.2361:0.372:0.2405	.	187	Q8TAX7	MUC7_HUMAN	K	187	ENSP00000407422:E187K;ENSP00000400585:E187K;ENSP00000302021:E187K	.	E	+	1	0	MUC7	71381609	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.001000	0.14495	-0.175000	0.13238	GAG	MUC7	-	NULL	ENSG00000171195		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	343	0.00	0	G	NM_152291		71347020	71347020	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	missense	210	48.79	201	SNP	0.000	A
MUM1L1	139221	genome.wustl.edu	37	X	105450345	105450345	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chrX:105450345C>T	ENST00000357175.2	+	4	1569	c.920C>T	c.(919-921)gCa>gTa	p.A307V	MUM1L1_ENST00000337685.2_Missense_Mutation_p.A307V|MUM1L1_ENST00000372552.1_Missense_Mutation_p.A307V	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	307						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGGGGGCTGCAGCATGCCCT	0.458																																						dbGAP											0													21.0	20.0	20.0					X																	105450345		1913	4121	6034	-	-	-	SO:0001583	missense	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.920C>T	X.37:g.105450345C>T	ENSP00000349699:p.Ala307Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.A307V	ENST00000357175.2	37	c.920	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708639	0.30322	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.23147	1.92;1.92;1.92	4.84	-5.62	0.02481	.	1.874060	0.02959	N	0.142829	T	0.14184	0.0343	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23119	-1.0197	10	0.33940	T	0.23	-1.5338	6.8129	0.23814	0.6331:0.2449:0.0:0.122	.	307	Q5H9M0	MUML1_HUMAN	V	307	ENSP00000349699:A307V;ENSP00000338641:A307V;ENSP00000361632:A307V	ENSP00000338641:A307V	A	+	2	0	MUM1L1	105337001	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.559000	0.00922	-0.786000	0.04516	0.600000	0.82982	GCA	MUM1L1	-	NULL	ENSG00000157502		0.458	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	23	0.00	0	C	NM_152423		105450345	105450345	+1	no_errors	ENST00000337685	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	0.000	T
MYO5C	55930	genome.wustl.edu	37	15	52529738	52529738	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr15:52529738C>T	ENST00000261839.7	-	22	2970	c.2809G>A	c.(2809-2811)Gcc>Acc	p.A937T	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	937						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTGTGAGTGGCTGCTTTTTCT	0.532																																						dbGAP											0													307.0	309.0	309.0					15																	52529738		2008	4186	6194	-	-	-	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2809G>A	15.37:g.52529738C>T	ENSP00000261839:p.Ala937Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A937T	ENST00000261839.7	37	c.2809	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	3.463	-0.109517	0.06924	.	.	ENSG00000128833	ENST00000261839	T	0.18502	2.21	5.56	3.67	0.42095	.	0.473367	0.22752	N	0.056078	T	0.09423	0.0232	N	0.24115	0.695	0.18873	N	0.999988	B	0.06786	0.001	B	0.06405	0.002	T	0.30504	-0.9976	10	0.17832	T	0.49	.	6.0156	0.19601	0.135:0.6528:0.0:0.2122	.	937	Q9NQX4	MYO5C_HUMAN	T	937	ENSP00000261839:A937T	ENSP00000261839:A937T	A	-	1	0	MYO5C	50317030	0.012000	0.17670	0.086000	0.20670	0.110000	0.19582	0.189000	0.17037	1.354000	0.45846	0.655000	0.94253	GCC	MYO5C	-	NULL	ENSG00000128833		0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	243	0.00	0	C	NM_018728		52529738	52529738	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	missense	319	38.74	203	SNP	0.050	T
MYO7A	4647	genome.wustl.edu	37	11	76893573	76893573	+	Missense_Mutation	SNP	G	G	A	rs374428473		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:76893573G>A	ENST00000409709.3	+	25	3485	c.3213G>A	c.(3211-3213)atG>atA	p.M1071I	MYO7A_ENST00000458637.2_Missense_Mutation_p.M1071I|MYO7A_ENST00000409893.1_Missense_Mutation_p.M1071I|MYO7A_ENST00000409619.2_Missense_Mutation_p.M1060I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1071	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCTGTGATGACCAAGATTT	0.597																																						dbGAP											0													77.0	82.0	80.0					11																	76893573		2081	4205	6286	-	-	-	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3213G>A	11.37:g.76893573G>A	ENSP00000386331:p.Met1071Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.M1071I	ENST00000409709.3	37	c.3213	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	17.12	3.308511	0.60305	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.87809	-2.28;-2.3;-2.28;-2.3;-2.18	5.47	5.47	0.80525	MyTH4 domain (2);	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.62723	1.935	0.80722	D	1	D;D;B;D	0.69078	0.995;0.97;0.285;0.997	D;P;B;D	0.81914	0.989;0.718;0.236;0.995	D	0.92091	0.5680	10	0.48119	T	0.1	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	1071;1060;1071;1071	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	I	1071;1071;1071;1060;282;1070;1070;947;1070;252	ENSP00000386331:M1071I;ENSP00000386689:M1071I;ENSP00000392185:M1071I;ENSP00000386635:M1060I;ENSP00000417017:M252I	ENSP00000345075:M947I	M	+	3	0	MYO7A	76571221	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	9.428000	0.97476	2.573000	0.86826	0.448000	0.29417	ATG	MYO7A	-	smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	33	0.00	0	G	NM_000260		76893573	76893573	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	125	10.07	14	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152544005	152544005	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:152544005C>G	ENST00000172853.10	-	27	2712	c.2565G>C	c.(2563-2565)atG>atC	p.M855I	NEB_ENST00000603639.1_Missense_Mutation_p.M855I|NEB_ENST00000409198.1_Missense_Mutation_p.M855I|NEB_ENST00000397345.3_Missense_Mutation_p.M855I|NEB_ENST00000604864.1_Missense_Mutation_p.M855I|NEB_ENST00000427231.2_Missense_Mutation_p.M855I			P20929	NEBU_HUMAN	nebulin	855					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCTCCAATCATTTTCCCTT	0.458																																						dbGAP											0													259.0	245.0	250.0					2																	152544005		1980	4163	6143	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2565G>C	2.37:g.152544005C>G	ENSP00000172853:p.Met855Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.M855I	ENST00000172853.10	37	c.2565		2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370097	0.61624	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05717	3.4;3.42;3.42;3.4	5.54	5.54	0.83059	.	0.128554	0.64402	D	0.000002	T	0.09202	0.0227	M	0.66939	2.045	0.80722	D	1	B	0.24618	0.107	B	0.22386	0.039	T	0.11012	-1.0605	10	0.22706	T	0.39	.	12.3861	0.55333	0.0:0.9189:0.0:0.0811	.	855	P20929	NEBU_HUMAN	I	855	ENSP00000386259:M855I;ENSP00000380505:M855I;ENSP00000416578:M855I;ENSP00000172853:M855I	ENSP00000172853:M855I	M	-	3	0	NEB	152252251	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.582000	0.60957	2.601000	0.87937	0.655000	0.94253	ATG	NEB	-	NULL	ENSG00000183091		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		170	0.00	0	C	NM_004543		152544005	152544005	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	296	32.19	141	SNP	1.000	G
NFIC	4782	genome.wustl.edu	37	19	3456562	3456562	+	Missense_Mutation	SNP	G	G	A	rs564835230		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:3456562G>A	ENST00000443272.2	+	10	1489	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	NFIC_ENST00000346156.5_Silent_p.P395P|NFIC_ENST00000395111.3_Silent_p.P419P|NFIC_ENST00000590282.1_Silent_p.P428P|NFIC_ENST00000586919.1_Silent_p.P395P|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000589123.1_Missense_Mutation_p.D471N	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	480					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCTCCGCCCGACACGTCCCC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		12542	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													42.0	47.0	45.0					19																	3456562		1902	4007	5909	-	-	-	SO:0001583	missense	0			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1438G>A	19.37:g.3456562G>A	ENSP00000396843:p.Asp480Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.D480N	ENST00000443272.2	37	c.1438	CCDS59330.1	19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882781	0.33255	.	.	ENSG00000141905	ENST00000443272;ENST00000343825	.	.	.	3.77	2.42	0.29668	.	0.267927	0.36167	N	0.002744	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.07139	-1.0788	9	0.25106	T	0.35	.	9.0346	0.36280	0.1378:0.0:0.8622:0.0	.	480;471	P08651;P08651-2	NFIC_HUMAN;.	N	471;480	.	ENSP00000342859:D480N	D	+	1	0	NFIC	3407562	1.000000	0.71417	0.998000	0.56505	0.347000	0.29111	5.409000	0.66374	1.662000	0.50781	0.462000	0.41574	GAC	NFIC	-	pfam_CTF/NFI	ENSG00000141905		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	62	0.00	0	G	NM_005597		3456562	3456562	+1	no_errors	ENST00000443272	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	A
NLRP9	338321	genome.wustl.edu	37	19	56243480	56243480	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:56243480C>T	ENST00000332836.2	-	2	1744	c.1717G>A	c.(1717-1719)Ggt>Agt	p.G573S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	573						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTATGTTACCAATATAAATG	0.343																																						dbGAP											0													70.0	69.0	69.0					19																	56243480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1717G>A	19.37:g.56243480C>T	ENSP00000331857:p.Gly573Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G573S	ENST00000332836.2	37	c.1717	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276663	0.01410	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.50813	0.73	2.23	-1.26	0.09376	.	.	.	.	.	T	0.28599	0.0708	L	0.39898	1.24	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.31752	-0.9932	9	0.06365	T	0.9	.	5.0579	0.14542	0.0:0.4438:0.0:0.5562	.	573	Q7RTR0	NALP9_HUMAN	S	573	ENSP00000331857:G573S	ENSP00000331857:G573S	G	-	1	0	NLRP9	60935292	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.284000	0.01154	-0.217000	0.10033	-0.151000	0.13558	GGT	NLRP9	-	NULL	ENSG00000185792		0.343	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	55	0.00	0	C	NM_176820		56243480	56243480	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	0.000	T
NR3C1	2908	genome.wustl.edu	37	5	142780154	142780154	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:142780154A>C	ENST00000343796.2	-	2	1244	c.251T>G	c.(250-252)cTc>cGc	p.L84R	NR3C1_ENST00000504572.1_Missense_Mutation_p.L84R|NR3C1_ENST00000394464.2_Missense_Mutation_p.L84R|NR3C1_ENST00000424646.2_Missense_Mutation_p.L84R|NR3C1_ENST00000394466.2_Missense_Mutation_p.L84R|NR3C1_ENST00000231509.3_Missense_Mutation_p.L84R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.L84R|NR3C1_ENST00000503201.1_Missense_Mutation_p.L84R	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	84	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TCCCATTGAGAGTGAAACTGC	0.483																																						dbGAP											0													133.0	148.0	143.0					5																	142780154		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.251T>G	5.37:g.142780154A>C	ENSP00000343205:p.Leu84Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,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,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.L84R	ENST00000343796.2	37	c.251	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524817	0.64747	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.84	4.84	0.62591	.	0.219723	0.40222	N	0.001143	T	0.67813	0.2933	M	0.73598	2.24	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	T	0.70274	-0.4917	10	0.48119	T	0.1	.	14.7392	0.69440	1.0:0.0:0.0:0.0	.	84;84;84	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	R	84	ENSP00000377977:L84R;ENSP00000343205:L84R;ENSP00000387672:L84R;ENSP00000405282:L84R;ENSP00000422518:L84R;ENSP00000377979:L84R;ENSP00000231509:L84R;ENSP00000427672:L84R;ENSP00000424747:L84R;ENSP00000425313:L84R;ENSP00000420856:L84R;ENSP00000426478:L84R;ENSP00000425374:L84R	ENSP00000231509:L84R	L	-	2	0	NR3C1	142760347	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.438000	0.59961	1.945000	0.56424	0.459000	0.35465	CTC	NR3C1	-	pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt	ENSG00000113580		0.483	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	44	0.00	0	A			142780154	142780154	-1	no_errors	ENST00000231509	ensembl	human	known	69_37n	missense	54	36.47	31	SNP	1.000	C
NUDT10	170685	genome.wustl.edu	37	X	51075962	51075963	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chrX:51075962_51075963insA	ENST00000376006.3	+	2	365_366	c.145_146insA	c.(145-147)ggcfs	p.G49fs	NUDT10_ENST00000356450.2_Frame_Shift_Ins_p.G49fs	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	214					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GATCGTGCCGGGCGGGGGCATG	0.698																																					NSCLC(90;1817 2035 37909 38249)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	Exception_encountered	X.37:g.51075962_51075963insA	ENSP00000365174:p.Gly49fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBN1|Q8NCB9|Q8NG25	Frame_Shift_Ins	INS	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G49fs	ENST00000376006.3	37	c.145_146	CCDS35278.1	X																																																																																			NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000122824		0.698	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	66	0.00	0	-	NM_153183		51075962	51075963	+1	no_errors	ENST00000356450	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228538601	228538601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:228538601C>T	ENST00000422127.1	+	77	18420	c.18376C>T	c.(18376-18378)Cag>Tag	p.Q6126*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q6126*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q7083*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q3760*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.Q3245*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6126	Ig-like 53.				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)				AGAGGACGCCCAGTTCACCTG	0.657																																						dbGAP											0													45.0	49.0	48.0					1																	228538601		1954	4132	6086	-	-	-	SO:0001587	stop_gained	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.18376C>T	1.37:g.228538601C>T	ENSP00000409493:p.Gln6126*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q6126*	ENST00000422127.1	37	c.18376	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.992579|83.992579	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.67581|.	0.2908|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59484|.	-0.7446|.	3|.	.|0.18276	.|T	.|0.48	.|.	19.5533|19.5533	0.95330|0.95330	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	742|6126;6126;3760;3245	.|.	.|ENSP00000284548:Q6126X	P|Q	+|+	2|1	0|0	OBSCN|OBSCN	226605224|226605224	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	7.201000|7.201000	0.77847|0.77847	2.639000|2.639000	0.89480|0.89480	0.491000|0.491000	0.48974|0.48974	CCA|CAG	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		36	0.00	0	C	NM_052843		228538601	228538601	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	nonsense	17	39.29	11	SNP	1.000	T
ORC3	23595	genome.wustl.edu	37	6	88372852	88372852	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:88372852A>G	ENST00000392844.3	+	17	1871	c.1823A>G	c.(1822-1824)tAt>tGt	p.Y608C	ORC3_ENST00000546266.1_Missense_Mutation_p.Y465C|ORC3_ENST00000257789.4_Missense_Mutation_p.Y609C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	608					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATCCTTACTATTATCTCAAG	0.403																																						dbGAP											0													77.0	69.0	71.0					6																	88372852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1823A>G	6.37:g.88372852A>G	ENSP00000376586:p.Tyr608Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	pfam_ORC3	p.Y609C	ENST00000392844.3	37	c.1826	CCDS43486.1	6	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318216	0.60524	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.11930	3.09;3.09;2.73	5.74	4.56	0.56223	.	0.301334	0.37761	N	0.001955	T	0.11879	0.0289	L	0.59436	1.845	0.46149	D	0.998899	D;D;D	0.57571	0.971;0.966;0.98	P;P;P	0.55345	0.662;0.599;0.774	T	0.05582	-1.0876	10	0.39692	T	0.17	4.9878	6.1152	0.20122	0.5718:0.1464:0.0:0.2817	.	546;608;609	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	C	608;609;465	ENSP00000376586:Y608C;ENSP00000257789:Y609C;ENSP00000444695:Y465C	ENSP00000257789:Y609C	Y	+	2	0	ORC3	88429571	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	1.006000	0.29847	0.977000	0.38444	0.459000	0.35465	TAT	ORC3	-	NULL	ENSG00000135336		0.403	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	45	0.00	0	A			88372852	88372852	+1	no_errors	ENST00000257789	ensembl	human	known	69_37n	missense	43	44.16	34	SNP	1.000	G
OTUD4	54726	genome.wustl.edu	37	4	146067547	146067547	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:146067547G>A	ENST00000447906.2	-	14	1481	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	OTUD4_ENST00000454497.2_Missense_Mutation_p.H367Y|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	432					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGACTTGTGTGATCAAAATCC	0.333																																						dbGAP											0													119.0	122.0	121.0					4																	146067547		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1294C>T	4.37:g.146067547G>A	ENSP00000395487:p.His432Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.H432Y	ENST00000447906.2	37	c.1294		4	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348099	0.61183	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.34275	1.37;1.37;1.46	5.22	4.37	0.52481	.	0.180740	0.39274	N	0.001405	T	0.32376	0.0827	L	0.44542	1.39	0.80722	D	1	P;P	0.40731	0.728;0.608	B;B	0.40825	0.341;0.185	T	0.12837	-1.0532	10	0.66056	D	0.02	-3.0248	10.3346	0.43841	0.0:0.1558:0.6983:0.1459	.	432;431	G3V0I6;Q01804	.;OTUD4_HUMAN	Y	367;432;366	ENSP00000409279:H367Y;ENSP00000395487:H432Y;ENSP00000425972:H366Y	ENSP00000395487:H432Y	H	-	1	0	OTUD4	146286997	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	1.933000	0.40153	1.301000	0.44836	0.655000	0.94253	CAC	OTUD4	-	NULL	ENSG00000164164		0.333	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	107	0.00	0	G	NM_017493		146067547	146067547	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	24	64.18	43	SNP	0.989	A
OXCT2	64064	genome.wustl.edu	37	1	40235448	40235448	+	Missense_Mutation	SNP	C	C	T	rs150795467	byFrequency	TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:40235448C>T	ENST00000327582.5	-	1	1572	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	494					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTTTTGATGTCGTCCACCGTC	0.632																																						dbGAP											0													41.0	40.0	40.0					1																	40235448		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1480G>A	1.37:g.40235448C>T	ENSP00000361914:p.Asp494Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.D494N	ENST00000327582.5	37	c.1480	CCDS445.1	1	.	.	.	.	.	.	.	.	.	.	c	14.42	2.530386	0.45073	.	.	ENSG00000198754	ENST00000327582	D	0.93247	-3.19	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.052044	0.64402	U	0.000001	D	0.94202	0.8139	.	.	.	0.37421	P	0.086372	D;D	0.60575	0.988;0.988	P;P	0.55785	0.784;0.71	D	0.95837	0.8863	8	0.62326	D	0.03	.	11.1506	0.48455	0.0:1.0:0.0:0.0	.	494;494	B3KS89;Q9BYC2	.;SCOT2_HUMAN	N	494	ENSP00000361914:D494N	ENSP00000361914:D494N	D	-	1	0	OXCT2	40008035	0.937000	0.31787	0.010000	0.14722	0.096000	0.18686	3.036000	0.49767	1.698000	0.51180	0.556000	0.70494	GAC	OXCT2	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000198754		0.632	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	24	0.00	0	C	NM_022120		40235448	40235448	-1	no_errors	ENST00000327582	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.171	T
PDGFB	5155	genome.wustl.edu	37	22	39636860	39636860	+	Intron	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr22:39636860G>T	ENST00000331163.6	-	1	851				PDGFB_ENST00000381551.4_Splice_Site_p.L6L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide						actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.L6L(2)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					AGGTACTTACGAGGCCCATGA	0.473			T	COL1A1	DFSP																																	dbGAP		Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	2	Substitution - coding silent(2)	breast(2)											280.0	223.0	242.0					22																	39636860		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.63+3045C>A	22.37:g.39636860G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	pfam_PD_growth_factor,pfam_PDGF_N,smart_PD_growth_factor,pfscan_PD_growth_factor	p.L6	ENST00000331163.6	37	c.18	CCDS13987.1	22																																																																																			PDGFB	-	NULL	ENSG00000100311		0.473	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	HGNC	protein_coding	OTTHUMT00000321043.1	68	0.00	0	G	NM_002608		39636860	39636860	-1	no_errors	ENST00000381551	ensembl	human	known	69_37n	silent	22	50.00	22	SNP	0.001	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	45	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	81	36.72	47	SNP	1.000	G
PKHD1L1	93035	genome.wustl.edu	37	8	110487470	110487470	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr8:110487470C>T	ENST00000378402.5	+	51	8833	c.8729C>T	c.(8728-8730)tCa>tTa	p.S2910L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2910					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)			ACCAACATTTCATATACATCG	0.338										HNSCC(38;0.096)																												dbGAP											0													94.0	87.0	89.0					8																	110487470		1856	4109	5965	-	-	-	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.8729C>T	8.37:g.110487470C>T	ENSP00000367655:p.Ser2910Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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.S2910L	ENST00000378402.5	37	c.8729	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537297	0.85812	.	.	ENSG00000205038	ENST00000378402	D	0.87491	-2.26	5.69	5.69	0.88448	.	0.079988	0.50627	D	0.000103	D	0.87099	0.6093	M	0.64404	1.975	0.31383	N	0.678799	B	0.30146	0.27	B	0.37601	0.254	D	0.87852	0.2658	10	0.62326	D	0.03	.	12.9618	0.58462	0.0:0.8374:0.1626:0.0	.	2910	Q86WI1	PKHL1_HUMAN	L	2910	ENSP00000367655:S2910L	ENSP00000367655:S2910L	S	+	2	0	PKHD1L1	110556646	0.995000	0.38212	1.000000	0.80357	0.963000	0.63663	3.398000	0.52579	2.671000	0.90904	0.655000	0.94253	TCA	PKHD1L1	-	NULL	ENSG00000205038		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	77	0.00	0	C	NM_177531		110487470	110487470	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	99	28.78	40	SNP	1.000	T
PMFBP1	83449	genome.wustl.edu	37	16	72159902	72159902	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:72159902C>T	ENST00000237353.10	-	15	2479	c.2218G>A	c.(2218-2220)Gcc>Acc	p.A740T	PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A745T|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A595T	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	745						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCCTGGCAGGCGGCTGACTTC	0.557																																						dbGAP											0													127.0	128.0	128.0					16																	72159902		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2218G>A	16.37:g.72159902C>T	ENSP00000237353:p.Ala740Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.A745T	ENST00000237353.10	37	c.2233	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	1.682	-0.506320	0.04231	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.16743	2.32;2.32;2.32	4.21	-5.49	0.02584	.	1.398140	0.04792	N	0.431816	T	0.05823	0.0152	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.16396	0.017;0.004;0.017	B;B;B	0.08055	0.003;0.002;0.003	T	0.33292	-0.9874	10	0.13853	T	0.58	0.1047	4.1746	0.10346	0.2692:0.2523:0.0:0.4785	.	745;740;745	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	T	745;740;595	ENSP00000443817:A745T;ENSP00000237353:A740T;ENSP00000347854:A595T	ENSP00000237353:A740T	A	-	1	0	PMFBP1	70717403	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-1.215000	0.02985	-1.132000	0.02907	-0.188000	0.12872	GCC	PMFBP1	-	NULL	ENSG00000118557		0.557	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	90	0.00	0	C	NM_031293		72159902	72159902	-1	no_errors	ENST00000537465	ensembl	human	known	69_37n	missense	55	32.11	35	SNP	0.000	T
POLM	27434	genome.wustl.edu	37	7	44118410	44118410	+	Splice_Site	SNP	C	C	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr7:44118410C>A	ENST00000242248.5	-	5	744	c.643G>T	c.(643-645)Gag>Tag	p.E215*	POLM_ENST00000395831.3_Splice_Site_p.E215*|POLM_ENST00000335195.6_Splice_Site_p.E215*|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	215					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TCCAGCAGCTCCTGGGGGAGG	0.627								DNA polymerases (catalytic subunits)																														dbGAP											0													102.0	76.0	85.0					7																	44118410		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.643-1G>T	7.37:g.44118410C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK4|Q6P5X8|Q86WQ9	Nonsense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.E215*	ENST00000242248.5	37	c.643	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.209622	0.95069	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	.	.	.	5.91	5.04	0.67666	.	0.092605	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.9259	11.0052	0.47629	0.0:0.9149:0.0:0.0851	.	.	.	.	X	215	.	ENSP00000242248:E215X	E	-	1	0	POLM	44084935	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.457000	0.66672	1.520000	0.48965	0.655000	0.94253	GAG	POLM	-	superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,prints_DNA_pol_X_beta-like	ENSG00000122678		0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	72	0.00	0	C	NM_013284	Nonsense_Mutation	44118410	44118410	-1	no_errors	ENST00000242248	ensembl	human	known	69_37n	nonsense	21	65.57	40	SNP	1.000	A
PPME1	51400	genome.wustl.edu	37	11	73882561	73882561	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:73882561G>C	ENST00000328257.8	+	1	418	c.95G>C	c.(94-96)cGa>cCa	p.R32P	PPME1_ENST00000398427.4_Missense_Mutation_p.R32P|C2CD3_ENST00000313663.7_5'Flank|C2CD3_ENST00000334126.7_5'Flank|C2CD3_ENST00000539061.1_5'Flank|PPME1_ENST00000542710.1_3'UTR			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	32					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GCCAAGATGCGAATGGGGTAC	0.632																																						dbGAP											0													23.0	25.0	24.0					11																	73882561		2000	4161	6161	-	-	-	SO:0001583	missense	0				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.95G>C	11.37:g.73882561G>C	ENSP00000329867:p.Arg32Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.R32P	ENST00000328257.8	37	c.95	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346784	0.82022	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T	0.01379	4.96	4.97	4.97	0.65823	.	0.172863	0.47455	D	0.000240	T	0.02083	0.0065	L	0.47716	1.5	0.80722	D	1	B	0.31680	0.335	B	0.27262	0.078	T	0.64089	-0.6489	10	0.28530	T	0.3	-11.0219	16.979	0.86322	0.0:0.0:1.0:0.0	.	32	Q9Y570	PPME1_HUMAN	P	32	ENSP00000438632:R32P	ENSP00000329867:R32P	R	+	2	0	PPME1	73560209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.525000	0.67110	2.294000	0.77228	0.491000	0.48974	CGA	PPME1	-	pirsf_PPase_methylesterase_euk	ENSG00000214517		0.632	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	14	0.00	0	G	NM_016147		73882561	73882561	+1	no_errors	ENST00000328257	ensembl	human	known	69_37n	missense	5	64.29	9	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79465476	79465476	+	Missense_Mutation	SNP	C	C	T	rs189759245		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:79465476C>T	ENST00000376718.3	-	3	370	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	PRUNE2_ENST00000376713.3_Missense_Mutation_p.E83K|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	83					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGAATGATTCGGAAATATTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		19309	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													159.0	163.0	162.0					9																	79465476		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.247G>A	9.37:g.79465476C>T	ENSP00000365908:p.Glu83Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E83K	ENST00000376718.3	37	c.247	CCDS47982.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.1	4.705334	0.89018	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T	0.50277	0.75	5.78	5.78	0.91487	.	0.140170	0.47852	D	0.000206	T	0.63105	0.2483	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.971	P;B	0.57720	0.826;0.203	T	0.58031	-0.7708	10	0.08599	T	0.76	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	83;83	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	K	83;82;83	ENSP00000365908:E83K	ENSP00000365903:E83K	E	-	1	0	PRUNE2	78655296	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	5.574000	0.67424	2.730000	0.93505	0.650000	0.86243	GAA	PRUNE2	-	NULL	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	95	0.00	0	C	NM_138818		79465476	79465476	-1	no_errors	ENST00000376718	ensembl	human	novel	69_37n	missense	96	27.82	37	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89653845	89653845	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr10:89653845A>T	ENST00000371953.3	+	2	1500	c.143A>T	c.(142-144)aAc>aTc	p.N48I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	48	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.N48I(1)|p.N48fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTATACAGGAACAATATTGAT	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	49	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(3)|Substitution - Missense(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)|endometrium(1)|NS(1)|kidney(1)											110.0	110.0	110.0					10																	89653845		2203	4295	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.143A>T	10.37:g.89653845A>T	ENSP00000361021:p.Asn48Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.N48I	ENST00000371953.3	37	c.143	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773382	0.90108	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	9	.	.	.	-6.2602	14.0135	0.64511	1.0:0.0:0.0:0.0	.	48	P60484	PTEN_HUMAN	I	48	ENSP00000361021:N48I	.	N	+	2	0	PTEN	89643825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.532000	0.90613	1.959000	0.56917	0.533000	0.62120	AAC	PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	94	0.00	0	A	NM_000314		89653845	89653845	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	47	62.70	79	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8465571	8465571	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:8465571G>T	ENST00000381196.4	-	29	4152	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	PTPRD_ENST00000397606.3_Missense_Mutation_p.F782L|PTPRD_ENST00000397611.3_Missense_Mutation_p.F789L|PTPRD_ENST00000537002.1_Missense_Mutation_p.F789L|PTPRD_ENST00000360074.4_Missense_Mutation_p.F1190L|PTPRD_ENST00000358503.5_Missense_Mutation_p.F1181L|PTPRD_ENST00000355233.5_Missense_Mutation_p.F792L|PTPRD_ENST00000486161.1_Missense_Mutation_p.F792L|PTPRD_ENST00000397617.3_Missense_Mutation_p.F782L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F1203L|PTPRD_ENST00000356435.5_Missense_Mutation_p.F1203L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1203					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCCCAGGGTGAACTCAGTGG	0.428										TSP Lung(15;0.13)																												dbGAP											0													168.0	154.0	159.0					9																	8465571		2203	4299	6502	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3609C>A	9.37:g.8465571G>T	ENSP00000370593:p.Phe1203Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.F1203L	ENST00000381196.4	37	c.3609	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581511	0.86748	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.22;-0.22;-0.18;-0.12;-0.15;-0.0;-0.22;-0.34;-0.22;-0.1;-0.0	5.5	3.64	0.41730	.	0.092983	0.85682	D	0.000000	T	0.78904	0.4357	M	0.76838	2.35	0.58432	D	0.999999	D;P;P;P;P;P;B;B;P	0.58268	0.982;0.924;0.924;0.826;0.457;0.954;0.007;0.28;0.924	P;P;P;B;P;D;B;B;P	0.63597	0.78;0.827;0.827;0.341;0.646;0.916;0.026;0.156;0.827	T	0.78979	-0.1990	9	.	.	.	.	12.3869	0.55336	0.1346:0.0:0.8654:0.0	.	782;787;792;792;789;789;1190;1203;1203	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1203;1203;1190;1181;792;782;789;789;674;1203;792;782	ENSP00000370593:F1203L;ENSP00000348812:F1203L;ENSP00000353187:F1190L;ENSP00000351293:F1181L;ENSP00000347373:F792L;ENSP00000380741:F782L;ENSP00000380735:F789L;ENSP00000440515:F789L;ENSP00000438164:F1203L;ENSP00000417093:F792L;ENSP00000380731:F782L	.	F	-	3	2	PTPRD	8455571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.569000	0.60865	0.780000	0.33566	0.650000	0.86243	TTC	PTPRD	-	NULL	ENSG00000153707		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	105	0.00	0	G			8465571	8465571	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	48	54.72	58	SNP	1.000	T
PTRF	284119	genome.wustl.edu	37	17	40556818	40556818	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:40556818C>G	ENST00000357037.5	-	2	1479	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCCCGCGCTCCGCGCCGCCC	0.706																																						dbGAP											0													17.0	17.0	17.0					17																	40556818		2194	4275	6469	-	-	-	SO:0001583	missense	0			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.1060G>C	17.37:g.40556818C>G	ENSP00000349541:p.Glu354Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E354Q	ENST00000357037.5	37	c.1060	CCDS11425.1	17	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453693	0.43531	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62498	0.02	4.36	3.36	0.38483	.	0.222923	0.28647	N	0.014609	T	0.52468	0.1736	L	0.39898	1.24	0.46336	D	0.998995	P;P	0.41131	0.739;0.527	B;B	0.41332	0.354;0.354	T	0.51545	-0.8692	10	0.45353	T	0.12	-29.9874	9.9309	0.41521	0.0:0.7929:0.2071:0.0	.	336;354	B4DNU9;Q6NZI2	.;PTRF_HUMAN	Q	354;309	ENSP00000349541:E354Q	ENSP00000349541:E354Q	E	-	1	0	PTRF	37810344	0.997000	0.39634	0.875000	0.34327	0.471000	0.32888	2.746000	0.47467	1.011000	0.39340	0.455000	0.32223	GAG	PTRF	-	NULL	ENSG00000177469		0.706	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRF	HGNC	protein_coding	OTTHUMT00000449938.1	13	0.00	0	C	NM_012232		40556818	40556818	-1	no_errors	ENST00000357037	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.993	G
RAB29	8934	genome.wustl.edu	37	1	205739909	205739909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:205739909C>T	ENST00000367139.3	-	5	755	c.452G>A	c.(451-453)tGg>tAg	p.W151*	RAB7L1_ENST00000414729.1_Nonsense_Mutation_p.W151*|RAB7L1_ENST00000437324.2_Nonsense_Mutation_p.W79*|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000446390.2_Nonsense_Mutation_p.W127*|RAB7L1_ENST00000235932.4_Nonsense_Mutation_p.W151*	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		151					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGTTTCTGTCCAACCTGTGAA	0.453																																					Pancreas(25;658 872 27763 34889 38531)	dbGAP											0													173.0	135.0	148.0					1																	205739909		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000367139.3:c.452G>A	1.37:g.205739909C>T	ENSP00000356107:p.Trp151*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1K3|C9JE77	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W151*	ENST00000367139.3	37	c.452	CCDS1459.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.685073	0.97759	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	.	.	.	5.27	5.27	0.74061	.	0.127944	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8046	17.0021	0.86384	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;79;127;151	.	ENSP00000235932:W151X	W	-	2	0	RAB7L1	204006532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.176000	0.77643	2.619000	0.88677	0.561000	0.74099	TGG	RAB7L1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000117280		0.453	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7L1	HGNC	protein_coding	OTTHUMT00000087732.1	126	0.00	0	C			205739909	205739909	-1	no_errors	ENST00000235932	ensembl	human	known	69_37n	nonsense	134	32.32	64	SNP	1.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80382663	80382663	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:80382663C>T	ENST00000265080.4	+	9	1348	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	427	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAGTAATGCACGATGAAGTCA	0.468																																						dbGAP											0													132.0	111.0	118.0					5																	80382663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1281C>T	5.37:g.80382663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H427	ENST00000265080.4	37	c.1281	CCDS4052.1	5																																																																																			RASGRF2	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000113319		0.468	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	75	0.00	0	C	NM_006909		80382663	80382663	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	silent	80	37.50	48	SNP	0.894	T
RNH1	6050	genome.wustl.edu	37	11	499131	499131	+	Silent	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:499131G>C	ENST00000534797.1	-	4	1905	c.498C>G	c.(496-498)ctC>ctG	p.L166L	RNH1_ENST00000438658.2_Silent_p.L166L|RNH1_ENST00000397604.3_Silent_p.L166L|RNH1_ENST00000356187.5_Silent_p.L166L|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397615.2_Silent_p.L166L|RNH1_ENST00000533410.1_Silent_p.L166L|RNH1_ENST00000397614.1_Silent_p.L166L|RNH1_ENST00000354420.2_Silent_p.L166L			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTTGGCCCTGAGCACGGAGG	0.642																																						dbGAP											0													56.0	46.0	49.0					11																	499131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.498C>G	11.37:g.499131G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Nonsense_Mutation	SNP	NULL	p.S141*	ENST00000534797.1	37	c.422	CCDS7697.1	11																																																																																			RNH1	-	NULL	ENSG00000023191		0.642	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1	16	0.00	0	G	NM_203389		499131	499131	-1	no_errors	ENST00000529115	ensembl	human	known	69_37n	nonsense	15	37.50	9	SNP	0.995	C
RUFY1	80230	genome.wustl.edu	37	5	179020635	179020635	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:179020635C>T	ENST00000319449.4	+	11	1414	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.H360Y|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.H360Y	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	468					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)			ACAGATGTTTCACAAAGCTCA	0.483										HNSCC(44;0.11)																												dbGAP											0													91.0	96.0	94.0					5																	179020635		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.1402C>T	5.37:g.179020635C>T	ENSP00000325594:p.His468Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H468Y	ENST00000319449.4	37	c.1402	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.00|11.00	1.509369|1.509369	0.27036|0.27036	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569|ENST00000502434	T;T;T|.	0.52295|.	0.67;0.7;0.7|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.306067|.	0.40064|.	N|.	0.001182|.	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.47191|.	0.891|.	B|.	0.43018|.	0.405|.	T|T	0.49679|0.49679	-0.8914|-0.8914	10|5	0.56958|.	D|.	0.05|.	-14.6313|-14.6313	14.5957|14.5957	0.68403|0.68403	0.1465:0.8535:0.0:0.0|0.1465:0.8535:0.0:0.0	.|.	468|.	Q96T51|.	RUFY1_HUMAN|.	Y|L	468;360;360;70|145	ENSP00000325594:H468Y;ENSP00000390025:H360Y;ENSP00000377087:H360Y|.	ENSP00000325594:H468Y|.	H|S	+|+	1|2	0|0	RUFY1|RUFY1	178953241|178953241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.012000|0.012000	0.07955|0.07955	2.638000|2.638000	0.46562|0.46562	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	CAC|TCA	RUFY1	-	NULL	ENSG00000176783		0.483	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	86	0.00	0	C	NM_001040451		179020635	179020635	+1	no_errors	ENST00000319449	ensembl	human	known	69_37n	missense	88	38.03	54	SNP	1.000	T
SATB2	23314	genome.wustl.edu	37	2	200173524	200173524	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:200173524G>A	ENST00000417098.1	-	10	2515	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	SATB2_ENST00000428695.1_Missense_Mutation_p.R449C|SATB2_ENST00000457245.1_Missense_Mutation_p.R567C|SATB2_ENST00000260926.5_Missense_Mutation_p.R567C|SATB2_ENST00000443023.1_Missense_Mutation_p.R508C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTGCATGCGTTCGCTGTGG	0.597																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													172.0	141.0	151.0					2																	200173524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1699C>T	2.37:g.200173524G>A	ENSP00000401112:p.Arg567Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.R567C	ENST00000417098.1	37	c.1699	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645800	0.87958	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.57752	0.38;0.44;0.38;0.47;0.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	N	0.08118	0	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;P	0.58928	0.848;0.848	T	0.61955	-0.6956	10	0.72032	D	0.01	-15.7857	19.6142	0.95626	0.0:0.0:1.0:0.0	.	449;567	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	C	567;508;567;449;567	ENSP00000401112:R567C;ENSP00000388764:R508C;ENSP00000260926:R567C;ENSP00000388581:R449C;ENSP00000405420:R567C	ENSP00000260926:R567C	R	-	1	0	SATB2	199881769	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.785000	0.68998	2.941000	0.99782	0.655000	0.94253	CGC	SATB2	-	NULL	ENSG00000119042		0.597	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	43	0.00	0	G	NM_015265		200173524	200173524	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	missense	41	41.43	29	SNP	1.000	A
SCAF4	57466	genome.wustl.edu	37	21	33044075	33044075	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr21:33044075G>A	ENST00000286835.7	-	20	3463	c.3081C>T	c.(3079-3081)aaC>aaT	p.N1027N	SCAF4_ENST00000434667.3_Silent_p.N1012N|SCAF4_ENST00000399804.1_Silent_p.N1005N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1027						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCTGTCACGGTTACTATTAT	0.488																																						dbGAP											0													117.0	111.0	113.0					21																	33044075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3081C>T	21.37:g.33044075G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.N1027	ENST00000286835.7	37	c.3081	CCDS33537.1	21																																																																																			SCAF4	-	NULL	ENSG00000156304		0.488	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	91	0.00	0	G	XM_047889		33044075	33044075	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	silent	135	31.82	63	SNP	0.003	A
SCGB1C1	147199	genome.wustl.edu	37	11	193718	193718	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:193718C>T	ENST00000342878.2	+	2	82	c.62C>T	c.(61-63)gCc>gTc	p.A21V	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	21						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGGGATGGCCACAGGGGAG	0.582																																						dbGAP											0													70.0	81.0	78.0					11																	193718		2114	4224	6338	-	-	-	SO:0001583	missense	0			AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"""Secretoglobins"""	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.62C>T	11.37:g.193718C>T	ENSP00000344545:p.Ala21Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI9|Q14DW0	Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.A21V	ENST00000342878.2	37	c.62	CCDS41581.1	11	.	.	.	.	.	.	.	.	.	.	.	9.051	0.991994	0.18966	.	.	ENSG00000188076	ENST00000342878	T	0.32753	1.44	5.12	4.21	0.49690	.	0.541866	0.17109	N	0.186690	T	0.25121	0.0610	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.20338	-1.0278	9	0.72032	D	0.01	-14.9462	9.9464	0.41611	0.0:0.9049:0.0:0.0951	.	21	Q8TD33	SG1C1_HUMAN	V	21	ENSP00000344545:A21V	ENSP00000344545:A21V	A	+	2	0	SCGB1C1	183718	0.605000	0.26941	0.030000	0.17652	0.029000	0.11900	2.157000	0.42320	1.314000	0.45095	-0.258000	0.10820	GCC	SCGB1C1	-	pfam_Uteroglobin-like_superfam	ENSG00000188076		0.582	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1C1	HGNC	protein_coding	OTTHUMT00000384759.1	49	0.00	0	C	NM_145651		193718	193718	+1	no_errors	ENST00000342878	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	0.146	T
SEC16A	9919	genome.wustl.edu	37	9	139357443	139357443	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:139357443C>T	ENST00000371706.3	-	10	4288	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K	SEC16A_ENST00000431893.2_Missense_Mutation_p.E1419K|SEC16A_ENST00000290037.6_Missense_Mutation_p.E1419K|SEC16A_ENST00000313050.7_Missense_Mutation_p.E1597K			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1419					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGCTGGGCCTCACCAGACTCC	0.582																																						dbGAP											0													77.0	89.0	85.0					9																	139357443		2061	4188	6249	-	-	-	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4255G>A	9.37:g.139357443C>T	ENSP00000360771:p.Glu1419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.E1597K	ENST00000371706.3	37	c.4789		9	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459703	0.63401	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.32515	1.84;1.45;1.82;1.83;1.82	5.56	5.56	0.83823	.	0.219830	0.48286	D	0.000195	T	0.38612	0.1047	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.69078	0.988;0.997;0.997;0.995	P;P;P;P	0.62014	0.815;0.897;0.85;0.713	T	0.04467	-1.0949	10	0.11794	T	0.64	-36.9765	18.4993	0.90876	0.0:1.0:0.0:0.0	.	1597;1419;1419;987	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	K	1597;319;1419;1419;1419;987	ENSP00000325827:E1597K;ENSP00000403525:E319K;ENSP00000360771:E1419K;ENSP00000290037:E1419K;ENSP00000387583:E1419K	ENSP00000290037:E1419K	E	-	1	0	SEC16A	138477264	0.999000	0.42202	0.955000	0.39395	0.150000	0.21749	4.336000	0.59304	2.626000	0.88956	0.549000	0.68633	GAG	SEC16A	-	NULL	ENSG00000148396		0.582	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	20	0.00	0	C	XM_088459		139357443	139357443	-1	no_errors	ENST00000313050	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	0.994	T
CCDC152	100129792	genome.wustl.edu	37	5	42801110	42801110	+	3'UTR	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:42801110G>C	ENST00000361970.5	+	0	2079				SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000514985.1_Silent_p.L286L|SEPP1_ENST00000511224.1_Silent_p.L286L|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Silent_p.L286L	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						GCAATTTACAGAGTAATTGAT	0.423																																						dbGAP											0													89.0	82.0	84.0					5																	42801110		1868	4124	5992	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1227G>C	5.37:g.42801110G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXI4|B4E0P7|Q5BLP6	Silent	SNP	pfam_Selenoprotein-P_N,pfam_SelP_C	p.L286	ENST00000361970.5	37	c.858	CCDS47203.1	5																																																																																			SEPP1	-	pfam_SelP_C	ENSG00000250722		0.423	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPP1	HGNC	protein_coding	OTTHUMT00000367497.1	58	0.00	0	G	XM_001717416		42801110	42801110	-1	pseudogene	ENST00000506577	ensembl	human	known	69_37n	silent	104	23.53	32	SNP	0.936	C
SETDB1	9869	genome.wustl.edu	37	1	150931666	150931667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:150931666_150931667insA	ENST00000271640.5	+	15	2533_2534	c.2343_2344insA	c.(2344-2346)aacfs	p.N782fs	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.N782fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	782	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATATGAGTGTAACAAACGCTG	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2345dupA	1.37:g.150931668_150931668dupA	ENSP00000271640:p.Asn782fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.N781fs	ENST00000271640.5	37	c.2343_2344	CCDS44217.1	1																																																																																			SETDB1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000143379		0.401	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	85	0.00	0	-			150931666	150931667	+1	no_errors	ENST00000271640	ensembl	human	known	69_37n	frame_shift_ins	110	37.85	67	INS	1.000:1.000	A
SH3RF1	57630	genome.wustl.edu	37	4	170057685	170057685	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:170057685G>A	ENST00000284637.9	-	5	1193	c.852C>T	c.(850-852)gcC>gcT	p.A284A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	284					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGCTGCTCTGGGCTGCTGCCG	0.537																																						dbGAP											0													157.0	143.0	148.0					4																	170057685		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.852C>T	4.37:g.170057685G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	p.P146L	ENST00000284637.9	37	c.437	CCDS34099.1	4																																																																																			SH3RF1	-	NULL	ENSG00000154447		0.537	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	139	0.00	0	G	NM_020870		170057685	170057685	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511421	ensembl	human	known	69_37n	missense	77	58.60	109	SNP	0.998	A
SHROOM2	357	genome.wustl.edu	37	X	9900268	9900268	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chrX:9900268C>T	ENST00000380913.3	+	6	3035	c.2945C>T	c.(2944-2946)cCg>cTg	p.P982L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	982					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAGCACCCACCGAGTCAGAAG	0.577																																						dbGAP											0													112.0	94.0	100.0					X																	9900268		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2945C>T	X.37:g.9900268C>T	ENSP00000370299:p.Pro982Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P982L	ENST00000380913.3	37	c.2945	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	c	0.954	-0.705374	0.03255	.	.	ENSG00000146950	ENST00000380913	T	0.11495	2.77	3.41	-0.884	0.10597	.	33.402700	0.00166	N	0.000002	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.30119	-0.9989	10	0.25751	T	0.34	.	4.2488	0.10684	0.1693:0.2621:0.0:0.5687	.	982	Q13796	SHRM2_HUMAN	L	982	ENSP00000370299:P982L	ENSP00000370299:P982L	P	+	2	0	SHROOM2	9860268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.953000	0.03877	-0.073000	0.12842	-0.203000	0.12734	CCG	SHROOM2	-	NULL	ENSG00000146950		0.577	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	45	0.00	0	C	NM_001649		9900268	9900268	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	50	38.27	31	SNP	0.000	T
SIX1	6495	genome.wustl.edu	37	14	61115628	61115628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr14:61115628C>A	ENST00000247182.6	-	1	552	c.280G>T	c.(280-282)Gag>Tag	p.E94*	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	94					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTCTCGGCCTCCACGTAATGC	0.627																																						dbGAP											0													92.0	96.0	95.0					14																	61115628		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.280G>T	14.37:g.61115628C>A	ENSP00000247182:p.Glu94*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y16|Q96H64	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E94*	ENST00000247182.6	37	c.280	CCDS9748.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.632194	0.98399	.	.	ENSG00000126778	ENST00000247182	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.897	18.7288	0.91726	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000247182:E94X	E	-	1	0	SIX1	60185381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.813000	0.86123	2.748000	0.94277	0.655000	0.94253	GAG	SIX1	-	NULL	ENSG00000126778		0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX1	HGNC	protein_coding	OTTHUMT00000276951.3	24	0.00	0	C			61115628	61115628	-1	no_errors	ENST00000247182	ensembl	human	known	69_37n	nonsense	12	63.64	21	SNP	1.000	A
SLC25A24	29957	genome.wustl.edu	37	1	108742651	108742651	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr1:108742651C>G	ENST00000565488.1	-	1	329	c.110G>C	c.(109-111)gGa>gCa	p.G37A	SLC25A24_ENST00000569674.1_Missense_Mutation_p.G37A|RP11-483I13.5_ENST00000564063.1_RNA	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTCCACCACTCCGTCCCCATT	0.721																																						dbGAP											0													17.0	22.0	21.0					1																	108742651		2023	4170	6193	-	-	-	SO:0001583	missense	0			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.110G>C	1.37:g.108742651C>G	ENSP00000457733:p.Gly37Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.G37A	ENST00000565488.1	37	c.110	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684741	0.88639	.	.	ENSG00000085491	ENST00000264128	T	0.80824	-1.42	4.65	4.65	0.58169	EF-hand-like domain (1);	0.055262	0.64402	D	0.000001	D	0.93439	0.7907	H	0.99312	4.51	0.54753	D	0.999984	D	0.59357	0.985	D	0.65573	0.936	D	0.96024	0.9011	10	0.87932	D	0	-16.9163	16.7001	0.85346	0.0:1.0:0.0:0.0	.	37	Q6NUK1	SCMC1_HUMAN	A	37	ENSP00000264128:G37A	ENSP00000264128:G37A	G	-	2	0	SLC25A24	108544174	0.997000	0.39634	1.000000	0.80357	0.662000	0.39071	4.627000	0.61276	2.395000	0.81488	0.455000	0.32223	GGA	SLC25A24	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000085491		0.721	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	SLC25A24	HGNC	protein_coding	OTTHUMT00000030280.2	14	0.00	0	C	NM_013386		108742651	108742651	-1	no_errors	ENST00000565488	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	G
SLC35B2	347734	genome.wustl.edu	37	6	44222443	44222443	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:44222443T>C	ENST00000393812.3	-	4	1442	c.1299A>G	c.(1297-1299)tgA>tgG	p.*433W	SLC35B2_ENST00000538577.1_Nonstop_Mutation_p.*340W|SLC35B2_ENST00000537814.1_Nonstop_Mutation_p.*300W|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	0					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTTCCACCCTCAAACCTTCT	0.572																																						dbGAP											0													106.0	108.0	107.0					6																	44222443		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1299A>G	6.37:g.44222443T>C	ENSP00000377401:p.*433Cysext*8	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Nonstop_Mutation	SNP	pfam_UAA,pfam_DMT	p.*433W	ENST00000393812.3	37	c.1299	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	t	8.832	0.940076	0.18281	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4965	0.38991	0.0:0.0837:0.0:0.9163	.	.	.	.	W	433;300;340;393	.	.	X	-	3	0	SLC35B2	44330421	0.994000	0.37717	0.810000	0.32431	0.494000	0.33585	2.665000	0.46791	1.917000	0.55516	0.446000	0.29264	TGA	SLC35B2	-	NULL	ENSG00000157593		0.572	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	60	0.00	0	T			44222443	44222443	-1	no_errors	ENST00000393812	ensembl	human	known	69_37n	nonstop	58	34.09	30	SNP	0.888	C
SLC6A12	6539	genome.wustl.edu	37	12	313734	313734	+	Silent	SNP	G	G	A	rs564689603		TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:313734G>A	ENST00000428720.1	-	4	1088	c.345C>T	c.(343-345)ttC>ttT	p.F115F	SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000397296.2_Silent_p.F115F|SLC6A12_ENST00000359674.4_Silent_p.F115F|SLC6A12_ENST00000424061.2_Silent_p.F115F|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.F115F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	115					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACATACCCTGGAAGAGGGGGC	0.612																																						dbGAP											0													72.0	64.0	67.0					12																	313734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.345C>T	12.37:g.313734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	NULL	p.S76F	ENST00000428720.1	37	c.227	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	G	9.520	1.108112	0.20714	.	.	ENSG00000111181	ENST00000535347	T	0.54866	0.55	4.49	2.6	0.31112	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41052	-0.9530	5	.	.	.	.	6.3923	0.21593	0.4016:0.0:0.5984:0.0	.	.	.	.	F	76	ENSP00000446082:S76F	.	S	-	2	0	SLC6A12	183995	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.725000	0.38074	1.022000	0.39626	0.491000	0.48974	TCC	SLC6A12	-	NULL	ENSG00000111181		0.612	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	21	0.00	0	G	NM_003044		313734	313734	-1	no_stop_codon	ENST00000535347	ensembl	human	putative	69_37n	missense	20	33.33	10	SNP	0.999	A
SSFA2	6744	genome.wustl.edu	37	2	182794293	182794293	+	3'UTR	SNP	C	C	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:182794293C>A	ENST00000431877.2	+	0	3978				SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_3'UTR|SSFA2_ENST00000320370.7_Silent_p.G1227G|SSFA2_ENST00000428267.2_3'UTR|SSFA2_ENST00000409136.1_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTAAGGTTGGCATGGATCCTA	0.333																																						dbGAP											0													227.0	223.0	225.0					2																	182794293		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.*19C>A	2.37:g.182794293C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	NULL	p.G1227	ENST00000431877.2	37	c.3681	CCDS46467.1	2																																																																																			SSFA2	-	NULL	ENSG00000138434		0.333	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	182	0.55	1	C	NM_006751		182794293	182794293	+1	no_errors	ENST00000320370	ensembl	human	known	69_37n	silent	236	35.34	129	SNP	0.000	A
STAB2	55576	genome.wustl.edu	37	12	104140458	104140458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:104140458G>T	ENST00000388887.2	+	58	6424	c.6220G>T	c.(6220-6222)Gaa>Taa	p.E2074*	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGGATTATGAAGGTGACGG	0.527																																						dbGAP											0													304.0	238.0	260.0					12																	104140458		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6220G>T	12.37:g.104140458G>T	ENSP00000373539:p.Glu2074*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.E2074*	ENST00000388887.2	37	c.6220	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	47	13.784544	0.99763	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.43	5.43	0.79202	.	0.364427	0.27917	N	0.017337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	12.1857	0.54236	0.1229:0.0:0.8771:0.0	.	.	.	.	X	2074;761	.	ENSP00000258495:E761X	E	+	1	0	STAB2	102664588	0.993000	0.37304	0.966000	0.40874	0.985000	0.73830	2.150000	0.42254	2.545000	0.85829	0.462000	0.41574	GAA	STAB2	-	smart_EGF-like	ENSG00000136011		0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	54	0.00	0	G			104140458	104140458	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	nonsense	104	36.59	60	SNP	0.926	T
STX8	9482	genome.wustl.edu	37	17	9408460	9408460	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:9408460C>G	ENST00000306357.4	-	5	770	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	STX8_ENST00000574431.1_Missense_Mutation_p.E4Q	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	115					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CGCTTAGCCTCTTCACTCATC	0.463																																						dbGAP											0													81.0	80.0	80.0					17																	9408460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.343G>C	17.37:g.9408460C>G	ENSP00000305255:p.Glu115Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60712|Q53XT8	Missense_Mutation	SNP	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E115Q	ENST00000306357.4	37	c.343	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744865	0.30865	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.87	2.79	0.32731	.	0.201284	0.51477	D	0.000082	T	0.37156	0.0993	N	0.14661	0.345	0.58432	D	0.999993	B	0.10296	0.003	B	0.08055	0.003	T	0.15954	-1.0419	9	0.42905	T	0.14	-15.9328	9.7307	0.40359	0.0:0.7663:0.0:0.2337	.	115	Q9UNK0	STX8_HUMAN	Q	115	.	ENSP00000305255:E115Q	E	-	1	0	STX8	9349185	1.000000	0.71417	0.969000	0.41365	0.938000	0.57974	2.709000	0.47160	0.940000	0.37473	0.655000	0.94253	GAG	STX8	-	NULL	ENSG00000170310		0.463	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX8	HGNC	protein_coding	OTTHUMT00000439206.3	61	0.00	0	C	NM_004853		9408460	9408460	-1	no_errors	ENST00000306357	ensembl	human	known	69_37n	missense	32	52.94	36	SNP	0.831	G
TAF1L	138474	genome.wustl.edu	37	9	32632676	32632676	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr9:32632676C>G	ENST00000242310.4	-	1	2991	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	968					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGTCACCTCTAGGAGACAC	0.483																																						dbGAP											0													155.0	145.0	148.0					9																	32632676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2902G>C	9.37:g.32632676C>G	ENSP00000418379:p.Glu968Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E968Q	ENST00000242310.4	37	c.2902	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954829	0.18431	.	.	ENSG00000122728	ENST00000242310	T	0.13307	2.6	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.107669	0.64402	D	0.000006	T	0.03608	0.0103	N	0.00873	-1.125	0.51012	D	0.999904	B	0.28470	0.213	B	0.37091	0.241	T	0.41716	-0.9493	10	0.02654	T	1	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	968	Q8IZX4	TAF1L_HUMAN	Q	968	ENSP00000418379:E968Q	ENSP00000418379:E968Q	E	-	1	0	TAF1L	32622676	1.000000	0.71417	0.969000	0.41365	0.824000	0.46624	4.971000	0.63749	0.507000	0.28148	0.195000	0.17529	GAG	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	102	0.00	0	C			32632676	32632676	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	168	10.64	20	SNP	1.000	G
TBCEL	219899	genome.wustl.edu	37	11	120929104	120929104	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr11:120929104G>C	ENST00000529397.1	+	6	863	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	TBCEL_ENST00000422003.2_Missense_Mutation_p.E255Q	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	255						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCCCAAACTGGAAGAAGTGAG	0.388																																						dbGAP											0													138.0	131.0	134.0					11																	120929104		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.763G>C	11.37:g.120929104G>C	ENSP00000437184:p.Glu255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.E255Q	ENST00000529397.1	37	c.763	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576865	0.45902	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T;T	0.25579	2.2;2.2;1.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	L	0.39397	1.21	0.53688	D	0.999975	B	0.24258	0.1	B	0.22152	0.038	T	0.06356	-1.0831	10	0.14656	T	0.56	-27.2409	20.1991	0.98252	0.0:0.0:1.0:0.0	.	255	Q5QJ74	TBCEL_HUMAN	Q	255;255;22;58	ENSP00000437184:E255Q;ENSP00000403925:E255Q;ENSP00000436419:E22Q	ENSP00000403925:E255Q	E	+	1	0	TBCEL	120434314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.775000	0.95449	0.650000	0.86243	GAA	TBCEL	-	NULL	ENSG00000154114		0.388	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	74	0.00	0	G	NM_152715		120929104	120929104	+1	no_errors	ENST00000422003	ensembl	human	known	69_37n	missense	96	32.39	46	SNP	1.000	C
TEPP	374739	genome.wustl.edu	37	16	58018668	58018668	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:58018668C>T	ENST00000441824.2	+	4	616	c.579C>T	c.(577-579)ttC>ttT	p.F193F	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000290871.5_Silent_p.F193F	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	193						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GGTCCCACTTCGTGTCCTCGG	0.672																																						dbGAP											0													34.0	28.0	30.0					16																	58018668		2196	4299	6495	-	-	-	SO:0001819	synonymous_variant	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.579C>T	16.37:g.58018668C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6URK7	Silent	SNP	NULL	p.F193	ENST00000441824.2	37	c.579	CCDS45496.1	16																																																																																			TEPP	-	NULL	ENSG00000159648		0.672	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	25	0.00	0	C	NM_199456		58018668	58018668	+1	no_errors	ENST00000290871	ensembl	human	known	69_37n	silent	15	34.78	8	SNP	0.032	T
TIAL1	7073	genome.wustl.edu	37	10	121337005	121337005	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr10:121337005A>C	ENST00000436547.2	-	9	739	c.695T>G	c.(694-696)aTg>aGg	p.M232R	TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369093.2_Missense_Mutation_p.M249R|TIAL1_ENST00000369092.4_Missense_Mutation_p.M109R	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	232	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTATTTCCATAATTTGTCC	0.303																																						dbGAP											0													77.0	79.0	79.0					10																	121337005		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.695T>G	10.37:g.121337005A>C	ENSP00000394902:p.Met232Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.M249R	ENST00000436547.2	37	c.746	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561717	0.45590	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.15139	2.45;2.45;2.45	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.034454	0.85682	D	0.000000	T	0.12050	0.0293	N	0.03253	-0.375	0.80722	D	1	B;B;B;B	0.29671	0.024;0.254;0.006;0.048	B;B;B;B	0.38880	0.058;0.284;0.056;0.109	T	0.37663	-0.9696	10	0.35671	T	0.21	-8.9936	16.0762	0.80969	1.0:0.0:0.0:0.0	.	109;109;249;232	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	R	249;109;232	ENSP00000358089:M249R;ENSP00000358088:M109R;ENSP00000394902:M232R	ENSP00000358088:M109R	M	-	2	0	TIAL1	121326995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.906000	0.92626	2.200000	0.70718	0.482000	0.46254	ATG	TIAL1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000151923		0.303	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	52	0.00	0	A	NM_022333, NM_003252		121337005	121337005	-1	no_errors	ENST00000369093	ensembl	human	known	69_37n	missense	35	58.82	50	SNP	1.000	C
TLE3	7090	genome.wustl.edu	37	15	70347638	70347638	+	Splice_Site	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr15:70347638C>G	ENST00000558939.1	-	15	2715		c.e15-1		TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000559191.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3						Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAGTACGCTCTGAAAAGGTG	0.667																																						dbGAP											0													52.0	61.0	58.0					15																	70347638		2180	4287	6467	-	-	-	SO:0001630	splice_region_variant	0			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1338-1G>C	15.37:g.70347638C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	-	e15-1	ENST00000558939.1	37	c.1338-1	CCDS45293.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.154465|4.154465	0.78114|0.78114	.|.	.|.	ENSG00000140332|ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550|ENST00000542329	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74458	.|0.3719	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76860	.|-0.2803	.|5	.|0.52906	.|T	.|0.07	.|.	16.2284|16.2284	0.82315|0.82315	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|T	-1|113	.|.	.|ENSP00000439518:R113T	.|R	-|-	.|2	.|0	TLE3|TLE3	68134692|68134692	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.641000|0.641000	0.38312|0.38312	7.553000|7.553000	0.82203|0.82203	2.352000|2.352000	0.79861|0.79861	0.462000|0.462000	0.41574|0.41574	.|AGA	TLE3	-	-	ENSG00000140332		0.667	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	HGNC	protein_coding	OTTHUMT00000416913.1	26	0.00	0	C	NM_005078	Intron	70347638	70347638	-1	no_errors	ENST00000558939	ensembl	human	known	69_37n	splice_site	24	27.27	9	SNP	1.000	G
TMC8	147138	genome.wustl.edu	37	17	76133392	76133392	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:76133392G>A	ENST00000318430.5	+	10	1578	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	TMC8_ENST00000589691.1_Missense_Mutation_p.D179N	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	402					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CATTGGCAGAGACAAGAGCAG	0.602																																						dbGAP											0													147.0	126.0	133.0					17																	76133392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1204G>A	17.37:g.76133392G>A	ENSP00000325561:p.Asp402Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.D402N	ENST00000318430.5	37	c.1204	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	9.781	1.175338	0.21704	.	.	ENSG00000167895	ENST00000318430	T	0.75704	-0.96	4.28	2.02	0.26589	.	.	.	.	.	T	0.43100	0.1232	N	0.01297	-0.9	0.24705	N	0.993232	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32188	-0.9916	9	0.26408	T	0.33	-18.7815	7.3672	0.26781	0.8012:0.0:0.1988:0.0	.	402;402	A5D8Y4;Q8IU68	.;TMC8_HUMAN	N	402	ENSP00000325561:D402N	ENSP00000325561:D402N	D	+	1	0	TMC8	73644987	0.146000	0.22672	0.933000	0.37362	0.893000	0.52053	1.108000	0.31123	0.295000	0.22570	-0.379000	0.06801	GAC	TMC8	-	NULL	ENSG00000167895		0.602	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	64	0.00	0	G			76133392	76133392	+1	no_errors	ENST00000318430	ensembl	human	known	69_37n	missense	121	11.59	16	SNP	0.880	A
TMEM233	387890	genome.wustl.edu	37	12	120031720	120031720	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:120031720G>A	ENST00000426426.1	+	1	457	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM233_ENST00000453450.2_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_001136534.1	NP_001130006.1	B4DJY2	TM233_HUMAN	transmembrane protein 233	23					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(1)	1						GGCCAACACTGAAGATGACAA	0.627																																						dbGAP											0													381.0	321.0	339.0					12																	120031720		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44995.1	12q24.23	2009-10-16			ENSG00000224982	ENSG00000224982			37219	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 2"""						Standard	NM_001136534		Approved	IFITMD2	uc010szd.1	B4DJY2	OTTHUMG00000168944	ENST00000426426.1:c.67G>A	12.37:g.120031720G>A	ENSP00000403130:p.Glu23Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.E23K	ENST00000426426.1	37	c.67	CCDS44995.1	12	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312497	0.60414	.	.	ENSG00000224982	ENST00000426426	D	0.95342	-3.68	3.95	3.95	0.45737	.	.	.	.	.	D	0.90943	0.7153	N	0.22421	0.69	0.40733	D	0.982769	P	0.47677	0.899	P	0.45971	0.499	D	0.90377	0.4385	8	.	.	.	.	16.226	0.82293	0.0:0.0:1.0:0.0	.	23	B4DJY2	TM233_HUMAN	K	23	ENSP00000403130:E23K	.	E	+	1	0	TMEM233	118516103	0.997000	0.39634	0.651000	0.29564	0.997000	0.91878	4.294000	0.59043	2.045000	0.60652	0.555000	0.69702	GAA	TMEM233	-	NULL	ENSG00000224982		0.627	TMEM233-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM233	HGNC	protein_coding	OTTHUMT00000401684.1	104	0.00	0	G	NM_001136534		120031720	120031720	+1	no_errors	ENST00000426426	ensembl	human	known	69_37n	missense	215	30.19	93	SNP	0.998	A
TMEM248	55069	genome.wustl.edu	37	7	66410096	66410096	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr7:66410096C>T	ENST00000341567.4	+	3	548	c.293C>T	c.(292-294)aCc>aTc	p.T98I		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	98						integral component of membrane (GO:0016021)											CGAGCTTCCACCCAGTCCCCC	0.567																																						dbGAP											0													53.0	56.0	55.0					7																	66410096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.293C>T	7.37:g.66410096C>T	ENSP00000340668:p.Thr98Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H07|Q96FR2	Missense_Mutation	SNP	NULL	p.T98I	ENST00000341567.4	37	c.293	CCDS5536.1	7	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610948	0.87258	.	.	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.84	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.59487	0.858	T	0.64892	-0.6300	9	0.54805	T	0.06	2.1849	14.0682	0.64844	0.0:0.9279:0.0:0.0721	.	98	Q9NWD8	CG042_HUMAN	I	98	.	ENSP00000340668:T98I	T	+	2	0	C7orf42	66047531	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	7.401000	0.79962	1.483000	0.48342	-0.258000	0.10820	ACC	TMEM248	-	NULL	ENSG00000106609		0.567	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM248	HGNC	protein_coding	OTTHUMT00000251745.2	31	0.00	0	C	NM_017994		66410096	66410096	+1	no_errors	ENST00000341567	ensembl	human	known	69_37n	missense	56	30.49	25	SNP	1.000	T
TMTC2	160335	genome.wustl.edu	37	12	83359365	83359365	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr12:83359365C>G	ENST00000321196.3	+	6	2418	c.1711C>G	c.(1711-1713)Cta>Gta	p.L571V	TMTC2_ENST00000549919.1_Missense_Mutation_p.L565V|TMTC2_ENST00000548305.1_Missense_Mutation_p.L571V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	571					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CGGTATTATTCTAATGAACCA	0.398																																						dbGAP											0													70.0	74.0	73.0					12																	83359365		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1711C>G	12.37:g.83359365C>G	ENSP00000322300:p.Leu571Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L571V	ENST00000321196.3	37	c.1711	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537597	0.65085	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	D;D;D	0.95690	-3.78;-3.78;-3.78	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	M	0.84326	2.69	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.991;0.997	D;D;D	0.75020	0.985;0.969;0.975	D	0.96926	0.9677	10	0.59425	D	0.04	-7.3318	9.4351	0.38635	0.0:0.8402:0.0:0.1598	.	571;326;571	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	V	571;571;565;326	ENSP00000322300:L571V;ENSP00000448292:L571V;ENSP00000447609:L565V	ENSP00000322300:L571V	L	+	1	2	TMTC2	81883496	1.000000	0.71417	0.992000	0.48379	0.794000	0.44872	2.481000	0.45215	2.466000	0.83321	0.585000	0.79938	CTA	TMTC2	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000179104		0.398	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	59	0.00	0	C	NM_152588		83359365	83359365	+1	no_errors	ENST00000321196	ensembl	human	known	69_37n	missense	93	11.43	12	SNP	1.000	G
TNXB	7148	genome.wustl.edu	37	6	32065667	32065667	+	Silent	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr6:32065667C>T	ENST00000479795.1	-	2	449	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TNXB_ENST00000375244.3_Silent_p.L103L|TNXB_ENST00000375247.2_Silent_p.L103L			P22105	TENX_HUMAN	tenascin XB	103					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GACGGACCCTCAGGGCCTGTA	0.617																																						dbGAP											0													36.0	35.0	35.0					6																	32065667		1934	4131	6065	-	-	-	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.309G>A	6.37:g.32065667C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L103	ENST00000479795.1	37	c.309		6																																																																																			TNXB	-	NULL	ENSG00000168477		0.617	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	33	0.00	0	C	NM_019105		32065667	32065667	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.999	T
UBR3	130507	genome.wustl.edu	37	2	170863687	170863687	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:170863687C>T	ENST00000272793.5	+	28	4267	c.4217C>T	c.(4216-4218)cCg>cTg	p.P1406L	UBR3_ENST00000392631.1_Missense_Mutation_p.P227L|UBR3_ENST00000418381.1_Missense_Mutation_p.P1406L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1406					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1406L(1)|p.P259L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAGGGACGACCGGGAGCTTTC	0.413																																						dbGAP											2	Substitution - Missense(2)	prostate(2)											57.0	49.0	52.0					2																	170863687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4217C>T	2.37:g.170863687C>T	ENSP00000272793:p.Pro1406Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P1406L	ENST00000272793.5	37	c.4217		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.60|12.60	1.986767|1.986767	0.35036|0.35036	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92|.	5.0|5.0	3.99|3.99	0.46301|0.46301	.|.	0.062950|.	0.64402|.	D|.	0.000003|.	T|T	0.08582|0.08582	0.0213|0.0213	N|N	0.00289|0.00289	-1.7|-1.7	0.49483|0.49483	D|D	0.999792|0.999792	B;B;B|.	0.16802|.	0.0;0.0;0.019|.	B;B;B|.	0.10450|.	0.0;0.001;0.005|.	T|T	0.25328|0.25328	-1.0135|-1.0135	10|5	0.26408|.	T|.	0.33|.	.|.	3.2954|3.2954	0.06964|0.06964	0.0:0.5932:0.0:0.4068|0.0:0.5932:0.0:0.4068	.|.	1406;227;1406|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	L|W	1406;1406;1406;227;77|464	ENSP00000272793:P1406L;ENSP00000396068:P1406L;ENSP00000376408:P227L;ENSP00000389097:P77L|.	ENSP00000272793:P1406L|.	P|R	+|+	2|1	0|2	UBR3|UBR3	170571933|170571933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.780000|4.780000	0.62382|0.62382	2.325000|2.325000	0.78763|0.78763	0.454000|0.454000	0.30748|0.30748	CCG|CGG	UBR3	-	NULL	ENSG00000144357		0.413	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	50	0.00	0	C	NM_172070		170863687	170863687	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	missense	63	37.00	37	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179426695	179426695	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:179426695C>T	ENST00000591111.1	-	276	79465	c.79241G>A	c.(79240-79242)aGa>aAa	p.R26414K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28055K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18990K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19115K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25487K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19182K			Q8WZ42	TITIN_HUMAN	titin	26414					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)			AGGTCCTGGTCTGTCAAGGAC	0.398																																						dbGAP											0													51.0	51.0	51.0					2																	179426695		1890	4098	5988	-	-	-	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.79241G>A	2.37:g.179426695C>T	ENSP00000465570:p.Arg26414Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.R25487K	ENST00000591111.1	37	c.76460		2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992359	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	6.16	-4.77	0.03219	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17789	0.0427	N	0.01140	-0.99	0.26569	N	0.973591	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.20107	-1.0285	9	0.87932	D	0	.	16.1994	0.82060	0.0:0.298:0.0:0.702	.	18990;19115;19182;26414	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25487;18990;19182;19115;18988	ENSP00000343764:R25487K;ENSP00000434586:R18990K;ENSP00000340554:R19182K;ENSP00000352154:R19115K	ENSP00000340554:R19182K	R	-	2	0	TTN	179134941	0.760000	0.28428	0.391000	0.26233	0.996000	0.88848	-0.070000	0.11523	-1.508000	0.01800	0.650000	0.86243	AGA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	26	0.00	0	C	NM_133378		179426695	179426695	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	0.869	T
TRPM8	79054	genome.wustl.edu	37	2	234858761	234858761	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:234858761G>C	ENST00000324695.4	+	9	1151	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	TRPM8_ENST00000433712.2_Missense_Mutation_p.E59Q|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	371					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCGGCTGCCTGAGGAGGAGAC	0.537																																						dbGAP											0													53.0	52.0	53.0					2																	234858761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1111G>C	2.37:g.234858761G>C	ENSP00000323926:p.Glu371Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E371Q	ENST00000324695.4	37	c.1111	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878096	0.72294	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.35973	1.28;1.28	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	L	0.59436	1.845	0.45867	D	0.998721	D;P	0.57899	0.981;0.866	D;P	0.65140	0.932;0.645	T	0.46857	-0.9161	10	0.32370	T	0.25	-32.6716	17.8142	0.88625	0.0:0.0:1.0:0.0	.	59;371	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	Q	371;59	ENSP00000323926:E371Q;ENSP00000404423:E59Q	ENSP00000323926:E371Q	E	+	1	0	TRPM8	234523500	1.000000	0.71417	0.957000	0.39632	0.612000	0.37316	6.719000	0.74718	2.548000	0.85928	0.557000	0.71058	GAG	TRPM8	-	NULL	ENSG00000144481		0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	49	0.00	0	G	NM_024080		234858761	234858761	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.994	C
UNC13C	440279	genome.wustl.edu	37	15	54586231	54586231	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr15:54586231G>C	ENST00000260323.11	+	10	3957	c.3957G>C	c.(3955-3957)ttG>ttC	p.L1319F	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1319F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1317F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1319					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAGGACCTTGAGTGGAGAAA	0.353																																						dbGAP											0													232.0	235.0	234.0					15																	54586231		1875	4103	5978	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3957G>C	15.37:g.54586231G>C	ENSP00000260323:p.Leu1319Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1319F	ENST00000260323.11	37	c.3957	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622642	0.66787	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.74421	-0.84;-0.84;-0.84	5.91	3.91	0.45181	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.84028	0.5382	M	0.83953	2.67	0.45502	D	0.998462	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.998	D	0.84359	0.0537	10	0.87932	D	0	.	6.1468	0.20291	0.0723:0.1323:0.6588:0.1366	.	1319;1319	F5H090;Q8NB66	.;UN13C_HUMAN	F	1319;1319;1317	ENSP00000260323:L1319F;ENSP00000438156:L1319F;ENSP00000442569:L1317F	ENSP00000260323:L1319F	L	+	3	2	UNC13C	52373523	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.371000	0.20450	1.486000	0.48398	0.650000	0.86243	TTG	UNC13C	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000137766		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	117	0.00	0	G	NM_173166		54586231	54586231	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	148	34.80	79	SNP	1.000	C
VTN	7448	genome.wustl.edu	37	17	26697169	26697169	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr17:26697169G>T	ENST00000226218.4	-	1	674	c.56C>A	c.(55-57)gCt>gAt	p.A19D	TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000457710.3_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_De_novo_Start_InFrame|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	19					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	ACCTTGGTCAGCCAGAGCAAC	0.612																																						dbGAP											0													136.0	135.0	135.0					17																	26697169		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.56C>A	17.37:g.26697169G>T	ENSP00000226218:p.Ala19Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.A19D	ENST00000226218.4	37	c.56	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683952	0.47991	.	.	ENSG00000255604	ENST00000226218;ENST00000542029	T	0.05025	3.51	5.77	4.74	0.60224	Somatomedin B, chordata (1);	0.220647	0.46442	D	0.000298	T	0.13628	0.0330	M	0.81239	2.535	0.58432	D	0.999997	D	0.56521	0.976	P	0.45538	0.484	T	0.00538	-1.1682	10	0.87932	D	0	-21.2288	12.7004	0.57029	0.0:0.0:0.8356:0.1644	.	19	P04004	VTNC_HUMAN	D	19	ENSP00000226218:A19D	ENSP00000226218:A19D	A	-	2	0	AC002094.1	23721296	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	3.683000	0.54663	2.728000	0.93425	0.655000	0.94253	GCT	VTN	-	prints_Somatomedin_B_chordata	ENSG00000255604		0.612	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	111	0.00	0	G	NM_000638		26697169	26697169	-1	no_errors	ENST00000226218	ensembl	human	known	69_37n	missense	66	38.32	41	SNP	0.998	T
WDFY3	23001	genome.wustl.edu	37	4	85678260	85678260	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr4:85678260C>T	ENST00000295888.4	-	33	5650	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1748Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1748					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAAGCATCTCGGTTAATCTC	0.453																																						dbGAP											0													141.0	133.0	136.0					4																	85678260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5243G>A	4.37:g.85678260C>T	ENSP00000295888:p.Arg1748Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1748Q	ENST00000295888.4	37	c.5243	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797879	0.50208	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.0	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	N	0.13043	0.29	0.80722	D	1	P	0.47302	0.893	B	0.35353	0.201	T	0.40831	-0.9542	10	0.13470	T	0.59	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1748	Q8IZQ1	WDFY3_HUMAN	Q	1748	ENSP00000318466:R1748Q;ENSP00000295888:R1748Q	ENSP00000295888:R1748Q	R	-	2	0	WDFY3	85897284	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.878000	0.63093	2.861000	0.98227	0.655000	0.94253	CGA	WDFY3	-	NULL	ENSG00000163625		0.453	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	70	0.00	0	C	NM_014991		85678260	85678260	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	missense	63	17.95	14	SNP	1.000	T
ZHX2	22882	genome.wustl.edu	37	8	123965814	123965814	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr8:123965814G>A	ENST00000314393.4	+	3	2899	c.2064G>A	c.(2062-2064)gtG>gtA	p.V688V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	688					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGGAACCGTGAAGTGGATGG	0.552																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													97.0	86.0	90.0					8																	123965814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2064G>A	8.37:g.123965814G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.V688	ENST00000314393.4	37	c.2064	CCDS6336.1	8																																																																																			ZHX2	-	superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000178764		0.552	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	49	0.00	0	G	NM_014943		123965814	123965814	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	silent	60	45.95	51	SNP	0.001	A
ZNF142	7701	genome.wustl.edu	37	2	219508614	219508614	+	Silent	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr2:219508614G>A	ENST00000449707.1	-	8	3046	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	ZNF142_ENST00000411696.2_Silent_p.F875F	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	875					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTTGTTGCTTGAAGCTAGCCC	0.602																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											0													72.0	76.0	75.0					2																	219508614		1982	4143	6125	-	-	-	SO:0001819	synonymous_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2625C>T	2.37:g.219508614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92510	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F875	ENST00000449707.1	37	c.2625	CCDS42817.1	2																																																																																			ZNF142	-	smart_Znf_C2H2-like	ENSG00000115568		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	46	0.00	0	G	NM_005081		219508614	219508614	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	1.000	A
ZNF469	84627	genome.wustl.edu	37	16	88497563	88497563	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr16:88497563G>A	ENST00000437464.1	+	2	3601	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	ZNF469_ENST00000565624.1_Missense_Mutation_p.E1229K	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CAAGGAGCCTGAAACTGCCGA	0.632																																						dbGAP											0													23.0	35.0	31.0					16																	88497563		692	1590	2282	-	-	-	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.3601G>A	16.37:g.88497563G>A	ENSP00000402343:p.Glu1201Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1201K	ENST00000437464.1	37	c.3601	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939121	0.52972	.	.	ENSG00000225614	ENST00000437464	T	0.08102	3.13	4.18	3.22	0.36961	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.31611	0.331	B	0.30179	0.112	T	0.39375	-0.9617	9	0.30078	T	0.28	.	10.522	0.44924	0.0982:0.0:0.9018:0.0	.	1201	Q96JG9	ZN469_HUMAN	K	1201	ENSP00000402343:E1201K	ENSP00000402343:E1201K	E	+	1	0	ZNF469	87025064	0.062000	0.20869	0.005000	0.12908	0.075000	0.17131	1.787000	0.38704	0.742000	0.32697	0.491000	0.48974	GAA	ZNF469	-	NULL	ENSG00000225614		0.632	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		20	0.00	0	G	NG_012236		88497563	88497563	+1	no_errors	ENST00000437464	ensembl	human	known	69_37n	missense	5	68.75	11	SNP	0.008	A
ZNF502	91392	genome.wustl.edu	37	3	44763099	44763099	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr3:44763099G>A	ENST00000296091.4	+	4	1046	c.790G>A	c.(790-792)Gag>Aag	p.E264K	ZNF502_ENST00000436624.2_Missense_Mutation_p.E264K|ZNF502_ENST00000449836.1_Missense_Mutation_p.E264K	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCACACTGGAGAGAAACCTTA	0.398																																						dbGAP											0													121.0	126.0	124.0					3																	44763099		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.790G>A	3.37:g.44763099G>A	ENSP00000296091:p.Glu264Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E264K	ENST00000296091.4	37	c.790	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121547	0.77436	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.24350	1.86;1.86;1.86	4.07	3.14	0.36123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35008	0.0917	M	0.62154	1.92	0.28048	N	0.933499	P	0.46457	0.878	P	0.47941	0.562	T	0.17868	-1.0355	9	0.59425	D	0.04	-4.343	12.5509	0.56225	0.0:0.1699:0.8301:0.0	.	264	Q8TBZ5	ZN502_HUMAN	K	264	ENSP00000397390:E264K;ENSP00000296091:E264K;ENSP00000406469:E264K	ENSP00000296091:E264K	E	+	1	0	ZNF502	44738103	1.000000	0.71417	0.881000	0.34555	0.978000	0.69477	3.240000	0.51368	0.999000	0.39023	0.655000	0.94253	GAG	ZNF502	-	pfscan_Znf_C2H2	ENSG00000196653		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	42	0.00	0	G	NM_033210		44763099	44763099	+1	no_errors	ENST00000296091	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	0.997	A
ZNF829	374899	genome.wustl.edu	37	19	37382578	37382578	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr19:37382578C>T	ENST00000391711.3	-	6	1479	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	ZNF829_ENST00000520965.1_Missense_Mutation_p.R453K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R372I(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGGATTCTCTGATGTTG	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											72.0	76.0	75.0					19																	37382578		2195	4297	6492	-	-	-	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1115G>A	19.37:g.37382578C>T	ENSP00000429266:p.Arg372Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R453K	ENST00000391711.3	37	c.1358	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183615	0.57800	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.18338	2.22	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	N	0.12853	0.265	0.22880	N	0.99862	B	0.20164	0.042	B	0.23275	0.045	T	0.21690	-1.0238	9	0.42905	T	0.14	.	13.9795	0.64295	0.0:1.0:0.0:0.0	.	372	Q3KNS6	ZN829_HUMAN	K	372	ENSP00000429266:R372K	ENSP00000429266:R372K	R	-	2	0	ZNF829	42074418	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.154000	0.10130	2.011000	0.59026	0.557000	0.71058	AGA	ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	101	0.00	0	C	NM_001037232		37382578	37382578	-1	no_errors	ENST00000520965	ensembl	human	known	69_37n	missense	191	34.14	99	SNP	1.000	T
ZSWIM6	57688	genome.wustl.edu	37	5	60822199	60822199	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F8-01A-11D-A13L-09	TCGA-BH-A1F8-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	030cfc8a-7b43-4d73-8bfa-b68a47749e49	05c094da-381f-4c2d-bec1-aa0259f7793f	g.chr5:60822199G>C	ENST00000252744.5	+	7	1813	c.1813G>C	c.(1813-1815)Gaa>Caa	p.E605Q		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	605					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GAAACAGTTGGAAATGTTCCG	0.413																																						dbGAP											0													159.0	142.0	147.0					5																	60822199		692	1591	2283	-	-	-	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.1813G>C	5.37:g.60822199G>C	ENSP00000252744:p.Glu605Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.E605Q	ENST00000252744.5	37	c.1813	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211673	0.58452	.	.	ENSG00000130449	ENST00000252744	T	0.47528	0.84	5.69	4.82	0.62117	.	0.049890	0.85682	D	0.000000	T	0.51517	0.1679	L	0.45228	1.405	0.48762	D	0.999707	P	0.40970	0.734	P	0.49637	0.617	T	0.46638	-0.9177	10	0.33940	T	0.23	-10.2511	14.5756	0.68243	0.0699:0.0:0.9301:0.0	.	605	Q9HCJ5	ZSWM6_HUMAN	Q	605	ENSP00000252744:E605Q	ENSP00000252744:E605Q	E	+	1	0	ZSWIM6	60857956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	1.426000	0.47256	0.655000	0.94253	GAA	ZSWIM6	-	NULL	ENSG00000130449		0.413	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	74	0.00	0	G	NM_020928		60822199	60822199	+1	no_errors	ENST00000252744	ensembl	human	known	69_37n	missense	117	25.00	39	SNP	1.000	C
