#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AHNAK	79026	genome.wustl.edu	37	11	62288062	62288062	+	Silent	SNP	G	G	A	rs371307743		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:62288062G>A	ENST00000378024.4	-	5	14101	c.13827C>T	c.(13825-13827)ggC>ggT	p.G4609G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4609					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCATGTCGCCCTTCACCT	0.512																																																	0								G	,	0,4404		0,0,2202	106.0	104.0	105.0		13827,	-10.9	0.1	11		105	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	4609/5891,	62288062	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13827C>T	11.37:g.62288062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G4609	ENST00000378024.4	37	c.13827	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62288062	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.008	A
AIDA	64853	genome.wustl.edu	37	1	222867561	222867561	+	Silent	SNP	T	T	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:222867561T>A	ENST00000340020.6	-	3	431	c.225A>T	c.(223-225)gcA>gcT	p.A75A	AIDA_ENST00000355727.2_Silent_p.A75A|AIDA_ENST00000541237.1_Silent_p.A51A|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	75					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTGTAAAGCTGCACTTCGCA	0.313																																																	0													126.0	139.0	135.0					1																	222867561		2203	4297	6500	SO:0001819	synonymous_variant	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.225A>T	1.37:g.222867561T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Silent	SNP	pfam_AIDA,superfamily_AIDA_N	p.A75	ENST00000340020.6	37	c.225	CCDS1533.1	1																																																																																			AIDA	-	pfam_AIDA,superfamily_AIDA_N		0.313	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	T	NM_022831		222867561	-1	no_errors	ENST00000340020	ensembl	human	known	70_37	silent	SNP	1.000	A
AKR1CL1	340811	genome.wustl.edu	37	10	5204935	5204935	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:5204935C>T	ENST00000334314.3	-	2	218	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	48						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGGCGGAAGCCTACGTCAATA	0.473																																					Ovarian(129;1623 1737 25446 28757 47467)												0													114.0	110.0	111.0					10																	5204935		2203	4300	6503	SO:0001583	missense	340811					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.142G>A	10.37:g.5204935C>T	ENSP00000334626:p.Gly48Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G48S	ENST00000334314.3	37	c.142		10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210379	0.58343	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	D;D	0.91945	-2.94;-2.94	3.33	2.37	0.29283	.	0.000000	0.47093	U	0.000255	D	0.91580	0.7340	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.85431	0.1149	7	0.87932	D	0	.	10.216	0.43168	0.0:0.7948:0.2052:0.0	.	.	.	.	S	48	ENSP00000417935:G48S;ENSP00000334626:G48S	ENSP00000334626:G48S	G	-	1	0	AKR1CL1	5194935	0.996000	0.38824	0.000000	0.03702	0.055000	0.15305	5.616000	0.67709	0.474000	0.27392	0.305000	0.20034	GGC	AKR1CL1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.473	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		C	NR_027916		5204935	-1	no_errors	ENST00000334314	ensembl	human	known	70_37	missense	SNP	0.079	T
AMBRA1	55626	genome.wustl.edu	37	11	46569840	46569840	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:46569840C>T	ENST00000458649.2	-	2	509	c.91G>A	c.(91-93)Gag>Aag	p.E31K	AMBRA1_ENST00000528950.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E31K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E31K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E31K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E31K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	31					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTACCAGCTCCTGCAGAAGC	0.522																																																	0													176.0	190.0	185.0					11																	46569840		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.91G>A	11.37:g.46569840C>T	ENSP00000415327:p.Glu31Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E31K	ENST00000458649.2	37	c.91		11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937026	0.73557	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70045	-0.3;-0.45;-0.06;-0.19;-0.06;-0.19;-0.19	6.08	6.08	0.98989	.	0.247838	0.43747	D	0.000522	T	0.53061	0.1773	N	0.17082	0.46	0.46241	D	0.998943	B;B;B;B;P;B	0.34587	0.146;0.228;0.228;0.228;0.458;0.228	B;B;B;B;B;B	0.35039	0.057;0.121;0.121;0.121;0.194;0.121	T	0.55321	-0.8159	10	0.46703	T	0.11	.	15.3963	0.74798	0.1392:0.8608:0.0:0.0	.	31;31;31;31;31;31	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	K	31	ENSP00000318313:E31K;ENSP00000433372:E31K;ENSP00000431926:E31K;ENSP00000410899:E31K;ENSP00000298834:E31K;ENSP00000415327:E31K;ENSP00000433945:E31K	ENSP00000298834:E31K	E	-	1	0	AMBRA1	46526416	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.446000	0.60014	2.894000	0.99253	0.591000	0.81541	GAG	AMBRA1	-	NULL		0.522	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46569840	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKLE1	126549	genome.wustl.edu	37	19	17397487	17397487	+	3'UTR	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:17397487G>T	ENST00000394458.3	+	0	2250				ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.C586F|ANKLE1_ENST00000594072.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtgtgtgtg	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*126G>T	19.37:g.17397487G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.C586F	ENST00000394458.3	37	c.1757	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	g	6.076	0.382264	0.11524	.	.	ENSG00000160117	ENST00000438921	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.50039	D	0.999844	D	0.58970	0.984	P	0.62435	0.902	T	0.63976	-0.6515	6	.	.	.	.	6.2562	0.20876	0.0:0.0:1.0:0.0	.	586	E7ETZ9	.	F	586	.	.	C	+	2	0	ANKLE1	17258487	0.113000	0.22115	0.312000	0.25196	0.107000	0.19398	0.998000	0.29744	1.103000	0.41568	0.274000	0.19336	TGT	ANKLE1	-	NULL		0.532	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	G	NM_152363		17397487	+1	no_errors	ENST00000598347	ensembl	human	putative	70_37	missense	SNP	0.697	T
ANKLE1	126549	genome.wustl.edu	37	19	17397497	17397497	+	3'UTR	SNP	G	G	T	rs563327402|rs56209027		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:17397497G>T	ENST00000394458.3	+	0	2260				ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.V589V|ANKLE1_ENST00000594072.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtttgtgtg	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*136G>T	19.37:g.17397497G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8VU82|Q8N8J8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V589	ENST00000394458.3	37	c.1767	CCDS12354.2	19																																																																																			ANKLE1	-	NULL		0.527	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	G	NM_152363		17397497	+1	no_errors	ENST00000598347	ensembl	human	putative	70_37	silent	SNP	0.085	T
ANO6	196527	genome.wustl.edu	37	12	45833645	45833645	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:45833645T>G	ENST00000425752.2	+	20	3016	c.2714T>G	c.(2713-2715)tTt>tGt	p.F905C	ANO6_ENST00000435642.1_Missense_Mutation_p.F905C	NM_001142679.1	NP_001136151.1	Q4KMQ2	ANO6_HUMAN	anoctamin 6	0					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						tctattttcttttctgttact	0.284																																																	0													63.0	53.0	56.0					12																	45833645		692	1591	2283	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000425752.2:c.2714T>G	12.37:g.45833645T>G	ENSP00000391417:p.Phe905Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.F905C	ENST00000425752.2	37	c.2714	CCDS44865.1	12	.	.	.	.	.	.	.	.	.	.	T	7.916	0.737641	0.15574	.	.	ENSG00000177119	ENST00000425752;ENST00000435642	T;T	0.71934	-0.61;-0.61	2.14	2.14	0.27477	.	.	.	.	.	T	0.39655	0.1086	N	0.08118	0	0.09310	N	1	P	0.45474	0.859	B	0.25140	0.058	T	0.33420	-0.9869	9	0.87932	D	0	.	6.2313	0.20736	0.0:0.0:0.0:1.0	.	905	E9PCT2	.	C	905	ENSP00000391417:F905C;ENSP00000413840:F905C	ENSP00000391417:F905C	F	+	2	0	ANO6	44119912	0.200000	0.23398	0.002000	0.10522	0.006000	0.05464	1.902000	0.39848	1.235000	0.43724	0.377000	0.23210	TTT	ANO6	-	NULL		0.284	ANO6-002	KNOWN	basic|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404819.1	T	XM_113743		45833645	+1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	0.003	G
ARHGAP19	84986	genome.wustl.edu	37	10	99018461	99018461	+	Intron	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:99018461G>T	ENST00000358531.4	-	5	869				ARHGAP19-SLIT1_ENST00000316676.8_Intron|ARHGAP19-SLIT1_ENST00000358308.3_Intron|ARHGAP19_ENST00000355366.5_Intron|ARHGAP19_ENST00000371027.1_Intron|ARHGAP19-SLIT1_ENST00000453547.2_Intron|ARHGAP19_ENST00000487035.1_5'Flank	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		Tgaggctacagtgagtagtga	0.388																																																	0																																										SO:0001627	intron_variant	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.840+697C>A	10.37:g.99018461G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	RNA	SNP	-	NULL	ENST00000358531.4	37	NULL	CCDS7454.2	10																																																																																			ARHGAP19	-	-		0.388	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19	HGNC	protein_coding	OTTHUMT00000049647.2	G	NM_032900		99018461	-1	no_errors	ENST00000492211	ensembl	human	known	70_37	rna	SNP	0.002	T
ARHGEF15	22899	genome.wustl.edu	37	17	8215677	8215677	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:8215677C>G	ENST00000361926.3	+	2	430	c.320C>G	c.(319-321)tCc>tGc	p.S107C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S107C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	107	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCCCGGCGCTCCGCCTCCCCA	0.667																																																	0													103.0	110.0	108.0					17																	8215677		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.320C>G	17.37:g.8215677C>G	ENSP00000355026:p.Ser107Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S107C	ENST00000361926.3	37	c.320	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	7.068	0.567824	0.13560	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.72505	-0.66;-0.66	4.85	3.86	0.44501	.	0.309004	0.24467	N	0.038280	T	0.63271	0.2497	L	0.27053	0.805	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.51415	0.536;0.669	T	0.55224	-0.8174	10	0.41790	T	0.15	-24.3026	9.2253	0.37402	0.0:0.8988:0.0:0.1012	.	107;107	D3DTR7;O94989	.;ARHGF_HUMAN	C	107	ENSP00000355026:S107C;ENSP00000412505:S107C	ENSP00000355026:S107C	S	+	2	0	ARHGEF15	8156402	0.952000	0.32445	0.939000	0.37840	0.511000	0.34104	3.576000	0.53878	2.549000	0.85964	0.555000	0.69702	TCC	ARHGEF15	-	NULL		0.667	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8215677	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.262	G
ARHGEF28	64283	genome.wustl.edu	37	5	73236769	73236769	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:73236769G>A	ENST00000426542.2	+	35	5069	c.5049G>A	c.(5047-5049)ccG>ccA	p.P1683P	ARHGEF28_ENST00000437974.1_Silent_p.P1709P|ARHGEF28_ENST00000512883.1_Silent_p.P629P|ARHGEF28_ENST00000513042.2_Silent_p.P1683P|ARHGEF28_ENST00000296799.4_Silent_p.P1370P|ARHGEF28_ENST00000287898.5_Silent_p.P1665P|ARHGEF28_ENST00000545377.1_Silent_p.P1709P			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1683	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TAAATCTACCGACAAGGACAA	0.433																																																	0																																										SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.5049G>A	5.37:g.73236769G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P1709	ENST00000426542.2	37	c.5127	CCDS54870.1	5																																																																																			ARHGEF28	-	NULL		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	G			73236769	+1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.000	A
ARMC4	55130	genome.wustl.edu	37	10	28151524	28151524	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:28151524C>T	ENST00000305242.5	-	18	2730	c.2638G>A	c.(2638-2640)Gtt>Att	p.V880I	ARMC4_ENST00000537576.1_Missense_Mutation_p.V572I|ARMC4_ENST00000545014.1_Missense_Mutation_p.V405I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	880					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAACCACCAACAAAGGAACGA	0.353																																																	0													88.0	83.0	84.0					10																	28151524		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2638G>A	10.37:g.28151524C>T	ENSP00000306410:p.Val880Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.V880I	ENST00000305242.5	37	c.2638	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639125	0.67244	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.95412	-3.7;-3.7;-3.7	5.75	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.061139	0.64402	D	0.000004	D	0.94768	0.8311	M	0.81497	2.545	0.80722	D	1	P;P	0.40553	0.564;0.721	B;B	0.37144	0.202;0.242	D	0.94352	0.7580	10	0.56958	D	0.05	-28.5796	14.8532	0.70313	0.0:0.9313:0.0:0.0687	.	405;880	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	I	572;880;405	ENSP00000443208:V572I;ENSP00000306410:V880I;ENSP00000441076:V405I	ENSP00000306410:V880I	V	-	1	0	ARMC4	28191530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.292000	0.51772	1.431000	0.47355	0.650000	0.86243	GTT	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo		0.353	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28151524	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	missense	SNP	1.000	T
AXDND1	126859	genome.wustl.edu	37	1	179503884	179503884	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:179503884A>G	ENST00000367618.3	+	25	3205	c.2818A>G	c.(2818-2820)Aga>Gga	p.R940G		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	940	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATAGAGCCAGACAGGCAGA	0.343																																																	0													65.0	66.0	66.0					1																	179503884		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2818A>G	1.37:g.179503884A>G	ENSP00000356590:p.Arg940Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R940G	ENST00000367618.3	37	c.2818	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817694	0.16607	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.22336	1.96;1.96	4.89	3.68	0.42216	.	0.355710	0.25146	N	0.032783	T	0.13114	0.0318	N	0.24115	0.695	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.22152	0.038;0.031	T	0.09143	-1.0688	10	0.25106	T	0.35	-6.4852	8.765	0.34698	0.7448:0.2552:0.0:0.0	.	824;940	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	G	940;824;800	ENSP00000356590:R940G;ENSP00000391716:R800G	ENSP00000353471:R824G	R	+	1	2	AXDND1	177770507	0.849000	0.29639	0.932000	0.37286	0.154000	0.21943	1.395000	0.34520	2.179000	0.69175	0.482000	0.46254	AGA	AXDND1	-	NULL		0.343	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	A	NM_144696		179503884	+1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.886	G
CEP131	22994	genome.wustl.edu	37	17	79167808	79167808	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:79167808G>A	ENST00000269392.4	-	18	2495	c.2248C>T	c.(2248-2250)Cgc>Tgc	p.R750C	AZI1_ENST00000450824.2_Missense_Mutation_p.R747C|AZI1_ENST00000575907.1_Missense_Mutation_p.R750C|AZI1_ENST00000374782.3_Missense_Mutation_p.R747C	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		750					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGCCTGGCGCAGGCAGCGC	0.701																																																	0													8.0	9.0	9.0					17																	79167808		2167	4267	6434	SO:0001583	missense	22994																														ENST00000269392.4:c.2248C>T	17.37:g.79167808G>A	ENSP00000269392:p.Arg750Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.R750C	ENST00000269392.4	37	c.2248		17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429150	0.83776	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16897	2.33;2.31;2.34	3.66	3.66	0.41972	.	0.143889	0.45126	D	0.000395	T	0.37517	0.1006	M	0.64997	1.995	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.67231	0.95;0.897;0.95;0.95	T	0.36456	-0.9747	10	0.87932	D	0	-18.5235	15.5435	0.76074	0.0:0.0:1.0:0.0	.	747;750;747;747	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	C	747;747;750	ENSP00000393583:R747C;ENSP00000363914:R747C;ENSP00000269392:R750C	ENSP00000269392:R750C	R	-	1	0	AZI1	76782403	0.966000	0.33281	0.707000	0.30419	0.940000	0.58332	5.207000	0.65197	1.867000	0.54127	0.563000	0.77884	CGC	AZI1	-	NULL		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	G			79167808	-1	no_errors	ENST00000269392	ensembl	human	known	70_37	missense	SNP	0.857	A
BRD8	10902	genome.wustl.edu	37	5	137486436	137486436	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:137486436C>G	ENST00000254900.5	-	22	3489	c.3118G>C	c.(3118-3120)Gag>Cag	p.E1040Q		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1040					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTTACCTCTTCACTCTCT	0.443																																																	0													150.0	165.0	160.0					5																	137486436		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3118G>C	5.37:g.137486436C>G	ENSP00000254900:p.Glu1040Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E1040Q	ENST00000254900.5	37	c.3118	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473532	0.43942	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32988	1.74;1.43	4.29	4.29	0.51040	.	0.000000	0.41500	D	0.000879	T	0.35508	0.0934	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	T	0.24154	-1.0168	10	0.48119	T	0.1	.	13.5682	0.61830	0.0:1.0:0.0:0.0	.	1040	Q9H0E9	BRD8_HUMAN	Q	1040;146	ENSP00000254900:E1040Q;ENSP00000392646:E146Q	ENSP00000254900:E1040Q	E	-	1	0	BRD8	137514335	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	1.421000	0.34815	2.207000	0.71202	0.561000	0.74099	GAG	BRD8	-	NULL		0.443	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	C	NM_006696		137486436	-1	no_errors	ENST00000254900	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM261	90871	genome.wustl.edu	37	9	7799696	7799696	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:7799696G>A	ENST00000358227.4	-	1	371	c.39C>T	c.(37-39)atC>atT	p.I13I	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	13						integral component of membrane (GO:0016021)											GAGGCGCAGTGATATAGGACT	0.637																																																	0													23.0	25.0	24.0					9																	7799696		2203	4300	6503	SO:0001819	synonymous_variant	90871			BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.39C>T	9.37:g.7799696G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9B7|Q5T6Y9|Q9NT74	Silent	SNP	NULL	p.I13	ENST00000358227.4	37	c.39	CCDS34989.1	9																																																																																			C9orf123	-	NULL		0.637	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf123	HGNC	protein_coding	OTTHUMT00000051705.1	G	NM_033428		7799696	-1	no_errors	ENST00000358227	ensembl	human	known	70_37	silent	SNP	0.001	A
CASP8	841	genome.wustl.edu	37	2	202149611	202149611	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:202149611T>A	ENST00000432109.2	+	9	1064	c.875T>A	c.(874-876)aTc>aAc	p.I292N	CASP8_ENST00000323492.7_Missense_Mutation_p.I277N|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.I351N|CASP8_ENST00000264275.5_Missense_Mutation_p.I309N|CASP8_ENST00000264274.9_Missense_Mutation_p.I208N|CASP8_ENST00000392259.2_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	292					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTAGAGCAAATCTATGAGATT	0.448										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													124.0	112.0	116.0					2																	202149611		2203	4300	6503	SO:0001583	missense	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.875T>A	2.37:g.202149611T>A	ENSP00000412523:p.Ile292Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.I351N	ENST00000432109.2	37	c.1052	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828134	0.71143	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.6	5.6	0.85130	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.049109	0.85682	D	0.000000	T	0.71204	0.3312	H	0.96805	3.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80390	-0.1402	10	0.87932	D	0	.	11.5331	0.50622	0.134:0.0:0.0:0.866	.	208;351;292;277;309	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	N	277;208;292;309;351;277;71	ENSP00000376091:I277N;ENSP00000264274:I208N;ENSP00000412523:I292N;ENSP00000264275:I309N;ENSP00000351273:I351N;ENSP00000325722:I277N;ENSP00000394434:I71N	ENSP00000264274:I208N	I	+	2	0	CASP8	201857856	1.000000	0.71417	0.106000	0.21319	0.002000	0.02628	5.631000	0.67812	2.138000	0.66242	0.533000	0.62120	ATC	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.448	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	T	NM_001228		202149611	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	missense	SNP	0.754	A
CCDC107	203260	genome.wustl.edu	37	9	35658621	35658621	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:35658621C>A	ENST00000426546.2	+	2	221	c.155C>A	c.(154-156)cCa>cAa	p.P52Q	CCDC107_ENST00000378409.3_Missense_Mutation_p.P52Q|CCDC107_ENST00000327351.2_Missense_Mutation_p.P52Q|CCDC107_ENST00000421582.2_Missense_Mutation_p.P52Q|CCDC107_ENST00000378407.3_Missense_Mutation_p.P52Q|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378406.1_Missense_Mutation_p.P52Q|RMRP_ENST00000602361.1_lincRNA	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	52						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCGGCGACCACCGCTCAAG	0.706																																																	0													8.0	11.0	10.0					9																	35658621		2116	4186	6302	SO:0001583	missense	203260			AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.155C>A	9.37:g.35658621C>A	ENSP00000414964:p.Pro52Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	NULL	p.P52Q	ENST00000426546.2	37	c.155	CCDS6583.1	9	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078135	0.36662	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000421582;ENST00000378409	T;T	0.34667	1.75;1.35	4.42	2.54	0.30619	.	0.184640	0.35040	N	0.003486	T	0.34803	0.0910	L	0.39898	1.24	0.09310	N	1	P;P;P;P;P	0.52061	0.95;0.95;0.904;0.904;0.835	P;P;P;P;P	0.51355	0.667;0.667;0.648;0.595;0.474	T	0.11591	-1.0581	10	0.72032	D	0.01	-0.2142	5.9332	0.19150	0.0:0.7024:0.1944:0.1032	.	52;52;52;52;52	F8W8S5;Q8WV48;A6XND6;Q8WV48-4;Q8WV48-2	.;CC107_HUMAN;.;.;.	Q	52	ENSP00000414964:P52Q;ENSP00000367665:P52Q	ENSP00000330327:P52Q	P	+	2	0	CCDC107	35648621	0.001000	0.12720	0.127000	0.21898	0.004000	0.04260	-0.008000	0.12788	0.774000	0.33427	0.650000	0.86243	CCA	CCDC107	-	NULL		0.706	CCDC107-001	KNOWN	basic|CCDS	protein_coding	CCDC107	HGNC	protein_coding	OTTHUMT00000052325.1	C	NM_174923		35658621	+1	no_errors	ENST00000426546	ensembl	human	known	70_37	missense	SNP	0.141	A
CBWD3	445571	genome.wustl.edu	37	9	70883977	70883977	+	Intron	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:70883977G>C	ENST00000360171.6	+	9	1258				CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3								ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AAATATGCTTGATTCTGATAT	0.249																																																	0																																										SO:0001627	intron_variant	445571			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.707+83G>C	9.37:g.70883977G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNG9|Q6VB91	RNA	SNP	-	NULL	ENST00000360171.6	37	NULL	CCDS35038.1	9																																																																																			CBWD3	-	-		0.249	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	HGNC	protein_coding	OTTHUMT00000052526.1	G	NM_201453		70883977	+1	no_errors	ENST00000469687	ensembl	human	known	70_37	rna	SNP	0.138	C
CCDC14	64770	genome.wustl.edu	37	3	123680158	123680158	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:123680158G>A	ENST00000488653.2	-	1	97	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	CCDC14_ENST00000483247.1_5'Flank|CCDC14_ENST00000489746.1_5'Flank|CCDC14_ENST00000433542.2_Missense_Mutation_p.R3C			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	3					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CGAATGCCGCGCTTCATAGTC	0.637																																																	0													9.0	14.0	12.0					3																	123680158		689	1591	2280	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.7C>T	3.37:g.123680158G>A	ENSP00000420180:p.Arg3Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.R3C	ENST00000488653.2	37	c.7		3	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824978	0.50739	.	.	ENSG00000175455	ENST00000488653;ENST00000433542	T;T	0.58797	0.38;0.31	3.31	3.31	0.37934	.	.	.	.	.	T	0.52008	0.1708	N	0.14661	0.345	0.43745	D	0.99624	D;D	0.89917	1.0;1.0	P;P	0.60286	0.872;0.872	T	0.46693	-0.9173	8	.	.	.	.	10.3108	0.43708	0.0:0.0:1.0:0.0	.	3;3	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	3	ENSP00000420180:R3C;ENSP00000395706:R3C	.	R	-	1	0	CCDC14	125162848	0.160000	0.22878	0.170000	0.22879	0.157000	0.22087	1.628000	0.37060	1.837000	0.53436	0.655000	0.94253	CGC	CCDC14	-	NULL		0.637	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123680158	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.143	A
CCDC144CP	348254	genome.wustl.edu	37	17	20243527	20243527	+	RNA	SNP	A	A	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:20243527A>T	ENST00000340196.4	+	0	2823				RN7SL17P_ENST00000583626.1_RNA			Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		AAGTATATCTACATGAAGAAT	0.343																																																	0																																												348254					17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20243527A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNP5	RNA	SNP	-	NULL	ENST00000340196.4	37	NULL		17																																																																																			CCDC144C	-	-		0.343	CCDC144CP-001	KNOWN	basic	processed_transcript	CCDC144C	HGNC	pseudogene	OTTHUMT00000132378.2	A	NR_023380		20243527	+1	no_errors	ENST00000580574	ensembl	human	known	70_37	rna	SNP	0.955	T
CCR4	1233	genome.wustl.edu	37	3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																																	0													64.0	68.0	67.0					3																	32995849		2203	4300	6503	SO:0001583	missense	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.R312H	ENST00000330953.5	37	c.935	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	G			32995849	+1	no_errors	ENST00000330953	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP170	9859	genome.wustl.edu	37	1	243388488	243388488	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:243388488A>C	ENST00000366542.1	-	2	146	c.95T>G	c.(94-96)cTc>cGc	p.L32R	CEP170_ENST00000366543.1_Missense_Mutation_p.L32R|AC092782.1_ENST00000596590.1_Intron|CEP170_ENST00000366544.1_Missense_Mutation_p.L32R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	32	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGCAACATGAGCTCACAGTC	0.388																																																	0													60.0	58.0	59.0					1																	243388488		1919	4136	6055	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.95T>G	1.37:g.243388488A>C	ENSP00000355500:p.Leu32Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.L32R	ENST00000366542.1	37	c.95	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480424	0.84747	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000522191;ENST00000523424;ENST00000522995	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.	.	.	.	D	0.95538	0.8550	M	0.90542	3.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.988	D	0.96259	0.9189	9	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	32;32;32	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	R	32	ENSP00000355500:L32R;ENSP00000355502:L32R;ENSP00000355501:L32R;ENSP00000427944:L32R;ENSP00000428183:L32R;ENSP00000428400:L32R	ENSP00000355500:L32R	L	-	2	0	CEP170	241455111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CTC	CEP170	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.388	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	A	NM_014812		243388488	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD9	80205	genome.wustl.edu	37	16	53243499	53243499	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:53243499G>C	ENST00000398510.3	+	2	1645	c.1558G>C	c.(1558-1560)Gaa>Caa	p.E520Q	CHD9_ENST00000447540.1_Missense_Mutation_p.E520Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E520Q|CHD9_ENST00000566029.1_Missense_Mutation_p.E520Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	520					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGTGGAATCAGAAAGCAAGCA	0.438																																																	0													105.0	98.0	100.0					16																	53243499		1883	4108	5991	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1558G>C	16.37:g.53243499G>C	ENSP00000381522:p.Glu520Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E520Q	ENST00000398510.3	37	c.1558		16	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778258	0.31502	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.54675	0.56;0.56	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000013	T	0.64438	0.2598	L	0.36672	1.1	0.47949	D	0.999555	B;B;B;D;B	0.76494	0.002;0.104;0.075;0.999;0.123	B;B;B;D;B	0.80764	0.001;0.135;0.026;0.994;0.057	T	0.56920	-0.7899	10	0.23891	T	0.37	-22.5063	19.7612	0.96319	0.0:0.0:1.0:0.0	.	46;520;520;520;520	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	Q	520;520;46	ENSP00000396345:E520Q;ENSP00000381522:E520Q	ENSP00000219084:E46Q	E	+	1	0	CHD9	51801000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.349000	0.52217	2.670000	0.90874	0.655000	0.94253	GAA	CHD9	-	NULL		0.438	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	G	NM_025134		53243499	+1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	C
CHGA	1113	genome.wustl.edu	37	14	93393957	93393957	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:93393957C>G	ENST00000216492.5	+	4	530	c.250C>G	c.(250-252)Ctc>Gtc	p.L84V	CHGA_ENST00000334654.4_Missense_Mutation_p.L84V|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	84					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGACCTCGCTCTCCAAGGTAT	0.463																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													120.0	129.0	126.0					14																	93393957		2203	4300	6503	SO:0001583	missense	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.250C>G	14.37:g.93393957C>G	ENSP00000216492:p.Leu84Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.L84V	ENST00000216492.5	37	c.250	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570053	0.13560	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01821	4.62;4.62	5.97	2.95	0.34219	.	0.787697	0.11836	N	0.524731	T	0.01627	0.0052	L	0.36672	1.1	0.80722	D	1	B;P	0.43578	0.4;0.811	B;B	0.40602	0.077;0.334	T	0.62737	-0.6791	10	0.30854	T	0.27	-7.2689	1.2778	0.02034	0.1541:0.4493:0.1502:0.2464	.	84;84	G5E968;P10645	.;CMGA_HUMAN	V	84	ENSP00000216492:L84V;ENSP00000334023:L84V	ENSP00000216492:L84V	L	+	1	0	CHGA	92463710	0.351000	0.24887	0.994000	0.49952	0.992000	0.81027	0.595000	0.24029	1.541000	0.49316	0.655000	0.94253	CTC	CHGA	-	pfam_Granin		0.463	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93393957	+1	no_errors	ENST00000216492	ensembl	human	known	70_37	missense	SNP	0.125	G
CKAP2	26586	genome.wustl.edu	37	13	53036502	53036502	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr13:53036502C>T	ENST00000378037.5	+	5	1198	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	CKAP2_ENST00000490903.1_Missense_Mutation_p.R321C|CKAP2_ENST00000258607.5_Missense_Mutation_p.R369C|CKAP2_ENST00000378034.3_Missense_Mutation_p.R369C	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTATAGAGCTCGTCTGAGTGA	0.363																																																	0													59.0	64.0	62.0					13																	53036502		2203	4299	6502	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1108C>T	13.37:g.53036502C>T	ENSP00000367276:p.Arg370Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R370C	ENST00000378037.5	37	c.1108	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	20.9	4.071252	0.76301	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.95	5.95	0.96441	.	0.307309	0.34700	N	0.003751	T	0.59059	0.2166	M	0.78637	2.42	0.47659	D	0.999484	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.973;0.995;0.95	T	0.60831	-0.7185	10	0.87932	D	0	-0.4793	17.8635	0.88789	0.0:1.0:0.0:0.0	.	321;370;369;370	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	C	370;369;369;370;321	ENSP00000258607:R369C;ENSP00000367273:R369C;ENSP00000367276:R370C;ENSP00000417830:R321C	ENSP00000258607:R369C	R	+	1	0	CKAP2	51934503	0.996000	0.38824	1.000000	0.80357	0.822000	0.46500	3.276000	0.51646	2.811000	0.96726	0.655000	0.94253	CGT	CKAP2	-	NULL		0.363	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	C			53036502	+1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	1.000	T
CKAP5	9793	genome.wustl.edu	37	11	46831302	46831302	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:46831302A>T	ENST00000529230.1	-	6	799	c.753T>A	c.(751-753)gaT>gaA	p.D251E	CKAP5_ENST00000354558.3_Missense_Mutation_p.D251E|CKAP5_ENST00000312055.5_Missense_Mutation_p.D251E|CKAP5_ENST00000415402.1_Missense_Mutation_p.D251E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	251					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTCCTTCAGCATCTCCACCAG	0.433																																					Ovarian(4;85 273 2202 4844 13323)												0													211.0	202.0	205.0					11																	46831302		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.753T>A	11.37:g.46831302A>T	ENSP00000432768:p.Asp251Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D251E	ENST00000529230.1	37	c.753	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271395	0.40194	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.148471	0.64402	D	0.000015	T	0.46737	0.1408	L	0.28694	0.88	0.53688	D	0.999973	D;B;B	0.61697	0.99;0.008;0.003	D;B;B	0.73380	0.98;0.019;0.003	T	0.26087	-1.0113	10	0.27082	T	0.32	-23.3662	9.7882	0.40688	0.8606:0.0:0.1394:0.0	.	251;251;251	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	E	251	ENSP00000432768:D251E;ENSP00000395302:D251E;ENSP00000310227:D251E;ENSP00000346566:D251E	ENSP00000310227:D251E	D	-	3	2	CKAP5	46787878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.577000	0.46042	1.003000	0.39130	-0.297000	0.09499	GAT	CKAP5	-	superfamily_ARM-type_fold		0.433	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	A	NM_014756		46831302	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGB1	1258	genome.wustl.edu	37	16	57931755	57931755	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57931755C>T	ENST00000251102.8	-	30	3100	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D1008N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1014					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GATTTCCCATCAGGGCCGCCC	0.562																																					Colon(156;1293 1853 16336 28962 38659)												0													162.0	173.0	169.0					16																	57931755		2034	4198	6232	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3040G>A	16.37:g.57931755C>T	ENSP00000251102:p.Asp1014Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D1014N	ENST00000251102.8	37	c.3040	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117261	0.77323	.	.	ENSG00000070729	ENST00000251102	D	0.96745	-4.11	5.51	5.51	0.81932	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	L	0.39467	1.215	0.80722	D	1	P;B	0.42941	0.794;0.41	P;B	0.48952	0.596;0.349	D	0.95131	0.8255	10	0.42905	T	0.14	.	18.7539	0.91825	0.0:1.0:0.0:0.0	.	386;1014	Q14028-2;Q14028	.;CNGB1_HUMAN	N	1014	ENSP00000251102:D1014N	ENSP00000251102:D1014N	D	-	1	0	CNGB1	56489256	1.000000	0.71417	0.700000	0.30305	0.970000	0.65996	7.770000	0.85390	2.745000	0.94114	0.655000	0.94253	GAT	CNGB1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57931755	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGB1	1258	genome.wustl.edu	37	16	57951355	57951355	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57951355G>A	ENST00000251102.8	-	21	2043	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	CNGB1_ENST00000564448.1_Silent_p.F655F	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	661					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCACCACGAAGAACAGCCATA	0.572																																					Colon(156;1293 1853 16336 28962 38659)												0													101.0	106.0	105.0					16																	57951355		2099	4227	6326	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1983C>T	16.37:g.57951355G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F661	ENST00000251102.8	37	c.1983	CCDS42169.1	16																																																																																			CNGB1	-	NULL		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57951355	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	silent	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	AAT	AAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249																0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945185_16945187delAAT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.325	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	AAT	NR_026752.1		16945184	-1	no_errors	ENST00000412962	ensembl	human	known	70_37	rna	DEL	0.016:0.018:0.018	-
CSHL1	1444	genome.wustl.edu	37	17	61987643	61987643	+	Missense_Mutation	SNP	C	C	T	rs144051040		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:61987643C>T	ENST00000309894.5	-	4	349	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.R55Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.R34Q|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.R23Q|CSHL1_ENST00000561003.1_Missense_Mutation_p.R34Q|CSHL1_ENST00000450719.3_Missense_Mutation_p.R23Q	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	117						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GGGCTCCAGCCGCGACTCGAT	0.597																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	51.0	49.0	50.0		68,350,101,281	3.1	1.0	17	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CSHL1	NM_001318.2,NM_022579.1,NM_022580.1,NM_022581.1	43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/129,117/223,34/140,94/200	61987643	2,13004	2203	4300	6503	SO:0001583	missense	1444			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.350G>A	17.37:g.61987643C>T	ENSP00000309524:p.Arg117Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R117Q	ENST00000309894.5	37	c.350	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791642	0.31685	0.0	2.33E-4	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90324	-2.65;-2.65;-2.65	3.07	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.08118	0	0.80722	D	1	B;P;P;P	0.44986	0.334;0.847;0.694;0.645	B;B;B;B	0.33339	0.101;0.101;0.162;0.146	T	0.81897	-0.0722	10	0.87932	D	0	.	11.9356	0.52872	0.0:1.0:0.0:0.0	.	23;34;117;94	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	Q	117;34;112;23;112	ENSP00000309524:R117Q;ENSP00000402632:R34Q;ENSP00000316360:R23Q	ENSP00000259003:R112Q	R	-	2	0	GH1	59341375	1.000000	0.71417	0.997000	0.53966	0.005000	0.04900	4.931000	0.63469	1.730000	0.51580	0.305000	0.20034	CGG	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.597	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	C	NM_022579		61987643	-1	no_errors	ENST00000309894	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP2J2	1573	genome.wustl.edu	37	1	60359403	60359403	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:60359403C>T	ENST00000371204.3	-	9	1472	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	477					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTCAGCTTCTCATTGTTTGGG	0.473																																																	0													216.0	235.0	229.0					1																	60359403		2203	4300	6503	SO:0001583	missense	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1429G>A	1.37:g.60359403C>T	ENSP00000360247:p.Glu477Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.E477K	ENST00000371204.3	37	c.1429	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238533	0.58886	.	.	ENSG00000134716	ENST00000371204	T	0.68479	-0.33	5.77	4.67	0.58626	.	0.512317	0.20522	N	0.090691	T	0.63094	0.2482	L	0.50993	1.605	0.25959	N	0.982646	B	0.28760	0.221	B	0.38921	0.285	T	0.58312	-0.7658	10	0.52906	T	0.07	.	7.5494	0.27786	0.1686:0.7379:0.0:0.0935	.	477	P51589	CP2J2_HUMAN	K	477	ENSP00000360247:E477K	ENSP00000360247:E477K	E	-	1	0	CYP2J2	60131991	0.003000	0.15002	0.993000	0.49108	0.891000	0.51852	0.873000	0.28052	2.734000	0.93682	0.655000	0.94253	GAG	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.473	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	C	NM_000775		60359403	-1	no_errors	ENST00000371204	ensembl	human	known	70_37	missense	SNP	0.743	T
DAOA	267012	genome.wustl.edu	37	13	106142425	106142425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr13:106142425G>T	ENST00000375936.3	+	4	503	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Nonsense_Mutation_p.E82*	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	153					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					taccaaagctgaatgagtttg	0.483																																																	0													31.0	32.0	32.0					13																	106142425		1941	4100	6041	SO:0001587	stop_gained	267012			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.457G>T	13.37:g.106142425G>T	ENSP00000365103:p.Glu153*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Nonsense_Mutation	SNP	NULL	p.E153*	ENST00000375936.3	37	c.457	CCDS41905.1	13	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423686	0.83559	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	.	.	.	2.47	0.475	0.16774	.	.	.	.	.	.	.	.	.	.	.	0.09310	A	9.31353e-08	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.2119	0.10515	0.4101:0.0:0.5899:0.0	.	.	.	.	X	153;82	.	ENSP00000329951:E82X	E	+	1	0	DAOA	104940426	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.030000	0.12308	0.094000	0.17404	0.650000	0.86243	GAA	DAOA	-	NULL		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	G	NM_172370		106142425	+1	no_errors	ENST00000375936	ensembl	human	known	70_37	nonsense	SNP	0.000	T
DDX41	51428	genome.wustl.edu	37	5	176939169	176939169	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:176939169C>T	ENST00000507955.1	-	16	2183	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCTTGGCTTCTAGCAGCAGC	0.627																																																	0													71.0	68.0	69.0					5																	176939169		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1660G>A	5.37:g.176939169C>T	ENSP00000422753:p.Glu554Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E554K	ENST00000507955.1	37	c.1660	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.701529	0.96812	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.92446	-3.04;-3.04	5.88	5.88	0.94601	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	-27.9304	20.2089	0.98286	0.0:1.0:0.0:0.0	.	554	Q9UJV9	DDX41_HUMAN	K	572;554	ENSP00000330349:E572K;ENSP00000422753:E554K	ENSP00000330349:E572K	E	-	1	0	DDX41	176871775	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.637000	0.83313	2.779000	0.95612	0.650000	0.86243	GAA	DDX41	-	pfscan_Helicase_C		0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176939169	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	35997050	35997050	+	Intron	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:35997050G>A	ENST00000339686.3	-	8	1215				DMKN_ENST00000480502.1_Intron|DMKN_ENST00000419602.1_Missense_Mutation_p.A328V|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000392206.2_Intron|DMKN_ENST00000418261.1_Intron|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000429837.1_Missense_Mutation_p.A298V|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.A389V|DMKN_ENST00000424570.2_Intron|DMKN_ENST00000443640.1_Missense_Mutation_p.A102V|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000474928.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000458071.1_Missense_Mutation_p.A84V|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000440396.1_Intron|DMKN_ENST00000467637.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							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)			TCCACCAACAGCGTCACCTCC	0.597																																																	0																																										SO:0001627	intron_variant	93099			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.1039-162C>T	19.37:g.35997050G>A		Somatic		WXS	Illumina HiSeq	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.A328V	ENST00000339686.3	37	c.983	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430522	0.25726	.	.	ENSG00000161249	ENST00000429837;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000458071;ENST00000450261	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	3.82	0.213	0.15244	.	.	.	.	.	T	0.25419	0.0618	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.23891	0.008;0.008;0.093;0.093	B;B;B;B	0.17433	0.006;0.01;0.018;0.018	T	0.26326	-1.0106	9	0.54805	T	0.06	.	3.511	0.07708	0.2437:0.215:0.5413:0.0	.	15;33;328;298	Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4	.;.;.;.	V	298;328;102;389;84;72	ENSP00000405503:A298V;ENSP00000391036:A328V;ENSP00000406864:A102V;ENSP00000394908:A389V;ENSP00000403957:A84V;ENSP00000397005:A72V	ENSP00000391036:A328V	A	-	2	0	DMKN	40688890	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.018000	0.12568	0.405000	0.25532	0.555000	0.69702	GCT	DMKN	-	NULL		0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35997050	-1	no_errors	ENST00000419602	ensembl	human	known	70_37	missense	SNP	0.000	A
DNAH10	196385	genome.wustl.edu	37	12	124393810	124393810	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:124393810C>T	ENST00000409039.3	+	57	9489	c.9464C>T	c.(9463-9465)tCg>tTg	p.S3155L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3155	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGCCAGGTCGTTTGCTAAG	0.542																																																	0													46.0	46.0	46.0					12																	124393810		1937	4133	6070	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9464C>T	12.37:g.124393810C>T	ENSP00000386770:p.Ser3155Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.S3155L	ENST00000409039.3	37	c.9464	CCDS9255.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.667377|4.667377	0.88348|0.88348	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000540041|ENST00000409039	.|T	.|0.80033	.|-1.33	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Dynein heavy chain, coiled coil stalk (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92545|0.92545	0.7632|0.7632	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	D|D	0.93947|0.93947	0.7228|0.7228	5|10	.|0.72032	.|D	.|0.01	.|.	19.5161|19.5161	0.95165|0.95165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3155	.|Q8IVF4	.|DYH10_HUMAN	C|L	83|3155	.|ENSP00000386770:S3155L	.|ENSP00000386770:S3155L	R|S	+|+	1|2	0|0	DNAH10|DNAH10	122959763|122959763	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.445000|0.445000	0.32107|0.32107	7.755000|7.755000	0.85180|0.85180	2.604000|2.604000	0.88044|0.88044	0.650000|0.650000	0.86243|0.86243	CGT|TCG	DNAH10	-	NULL		0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124393810	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	T
E2F4	1874	genome.wustl.edu	37	16	67229811	67229811	+	Missense_Mutation	SNP	G	G	T	rs575614504|rs562856782	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:67229811G>T	ENST00000379378.3	+	7	994	c.935G>T	c.(934-936)aGc>aTc	p.S312I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	312	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		agcagcagcagcagcagcagc	0.602																																																	0													38.0	42.0	41.0					16																	67229811		2197	4295	6492	SO:0001583	missense	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.935G>T	16.37:g.67229811G>T	ENSP00000368686:p.Ser312Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_E2F_TDP	p.S312I	ENST00000379378.3	37	c.935	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	g	13.33	2.206276	0.39003	.	.	ENSG00000205250	ENST00000379378	D	0.84370	-1.84	2.11	2.11	0.27256	.	1.064210	0.07329	N	0.878979	T	0.78773	0.4336	N	0.08118	0	0.25032	N	0.99127	D	0.55605	0.972	P	0.55011	0.766	T	0.69468	-0.5137	10	0.25751	T	0.34	-7.6297	7.7713	0.29010	0.0:0.0:1.0:0.0	.	312	Q16254	E2F4_HUMAN	I	312	ENSP00000368686:S312I	ENSP00000368686:S312I	S	+	2	0	E2F4	65787312	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	6.205000	0.72148	1.519000	0.48950	0.306000	0.20318	AGC	E2F4	-	NULL		0.602	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67229811	+1	no_errors	ENST00000379378	ensembl	human	known	70_37	missense	SNP	0.999	T
E2F4	1874	genome.wustl.edu	37	16	67229811	67229812	+	In_Frame_Ins	INS	-	-	CAGCAT	rs575614504|rs562856782	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:67229811_67229812insCAGCAT	ENST00000379378.3	+	7	994_995	c.935_936insCAGCAT	c.(934-939)agcagc>agCAGCATcagc	p.313_314insIS		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	313	Poly-Ser.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		agcagcagcagcagcagcagca	0.604																																																	0																																										SO:0001652	inframe_insertion	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	Exception_encountered	16.37:g.67229811_67229812insCAGCAT	ENSP00000368686:p.Ser313_Ser314insIleSer	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Ins	INS	pfam_E2F_TDP	p.314in_frame_insIS	ENST00000379378.3	37	c.935_936	CCDS32464.1	16																																																																																			E2F4	-	NULL		0.604	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	-	NM_001950		67229812	+1	no_errors	ENST00000379378	ensembl	human	known	70_37	in_frame_ins	INS	0.999:0.996	CAGCAT
ZNF788	388507	genome.wustl.edu	37	19	12223527	12223527	+	Missense_Mutation	SNP	C	C	T	rs546708935		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:12223527C>T	ENST00000339302.4	+	3	1802	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.R8C			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TAGAGAAAAACGCTATAAATG	0.388													.|||	1	0.000199681	0.0	0.0	5008	,	,		23325	0.0		0.0	False		,,,				2504	0.001				Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1165C>T	19.37:g.12223527C>T	ENSP00000342021:p.Arg389Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R389C	ENST00000339302.4	37	c.1165		19	.	.	.	.	.	.	.	.	.	.	C	8.109	0.778454	0.16120	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	T;T	0.15487	2.42;2.42	0.808	-1.62	0.08372	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.11817	-1.0572	7	0.87932	D	0	.	8.9175	0.35590	0.0:0.8236:0.0:0.1764	.	389	Q6ZQV5	ZN788_HUMAN	C	389;8	ENSP00000342021:R389C;ENSP00000380866:R8C	ENSP00000342021:R389C	R	+	1	0	AC022415.1	12084527	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.878000	0.39608	-0.813000	0.04357	-1.327000	0.01280	CGC	ZNF788	-	NULL		0.388	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		C	XM_930581		12223527	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	0.999	T
AC003658.1	0	genome.wustl.edu	37	X	14783100	14783100	+	RNA	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:14783100G>C	ENST00000408351.1	-	0	139																											ataaaaaacagaatgccagtt	0.383																																																	0																																												0																															X.37:g.14783100G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408351.1	37	NULL		X																																																																																			AC003658.1	-	-		0.383	AC003658.1-201	NOVEL	basic	miRNA	ENSG00000221278	Clone_based_ensembl_gene	miRNA		G			14783100	-1	no_errors	ENST00000408351	ensembl	human	novel	70_37	rna	SNP	0.039	C
RP11-782C8.4	0	genome.wustl.edu	37	1	143169688	143169688	+	lincRNA	SNP	A	A	C	rs111622633		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:143169688A>C	ENST00000424474.2	+	0	576				RP11-782C8.2_ENST00000412204.2_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							caagaagaCTAACCAATGGTG	0.498																																																	0																																												0																															1.37:g.143169688A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424474.2	37	NULL		1																																																																																			BX571672.4	-	-		0.498	RP11-782C8.4-001	KNOWN	not_best_in_genome_evidence|basic|exp_conf	lincRNA	ENSG00000237291	Clone_based_vega_gene	lincRNA	OTTHUMT00000037573.2	A			143169688	+1	no_errors	ENST00000424474	ensembl	human	known	70_37	rna	SNP	0.061	C
Unknown	0	genome.wustl.edu	37	GL000192.1	545107	545107	+	IGR	SNP	T	T	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrGL000192.1:545107T>C								None (None upstream) : None (None downstream)																							tacgtaagtatGAATGAACGC	0.567																																																	0																																										SO:0001628	intergenic_variant	0																															GL000192.1.37:g.545107T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		GL000192.1																																																																																			U1	-	-	0	0.567					ENSG00000238421	RFAM			T			545107	-1	no_errors	ENST00000459549	ensembl	human	novel	70_37	rna	SNP	NULL	C
IDS	3423	genome.wustl.edu	37	X	148615815	148615815	+	5'Flank	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:148615815C>T	ENST00000422081.2	-	0	0				IDS_ENST00000427113.2_5'Flank|LINC00893_ENST00000431025.1_RNA|LINC00893_ENST00000430173.1_RNA|LINC00893_ENST00000609314.1_RNA|LINC00893_ENST00000609651.1_RNA|LINC00893_ENST00000451969.1_RNA|LINC00893_ENST00000431214.1_RNA|LINC00893_ENST00000608355.1_RNA|LINC00893_ENST00000412882.1_RNA|LINC00893_ENST00000437981.1_RNA|LINC00893_ENST00000447209.1_RNA|LINC00893_ENST00000608342.1_RNA|LINC00893_ENST00000541582.1_RNA|LINC00893_ENST00000436708.2_RNA|IDS_ENST00000541269.1_5'Flank|LINC00893_ENST00000609369.1_RNA|LINC00893_ENST00000609161.1_RNA|LINC00893_ENST00000608616.1_RNA|LINC00893_ENST00000596412.2_RNA			P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					cggcgagtcccagggaagcag	0.612																																																	0																																										SO:0001631	upstream_gene_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615		X.37:g.148615815C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	RNA	SNP	-	NULL	ENST00000422081.2	37	NULL		X																																																																																			AF011889.4	-	-		0.612	IDS-006	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000241769	Clone_based_vega_gene	protein_coding	OTTHUMT00000058694.2	C			148615815	-1	no_errors	ENST00000431214	ensembl	human	known	70_37	rna	SNP	0.004	T
NUMA1	4926	genome.wustl.edu	37	11	71729063	71729063	+	Intron	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:71729063G>A	ENST00000393695.3	-	12	1310				NUMA1_ENST00000358965.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGTACCCGGGAAGCCGCCAA	0.478			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0																																										SO:0001627	intron_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.978+165C>T	11.37:g.71729063G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000393695.3	37	NULL	CCDS31633.1	11																																																																																			RP11-849H4.4	-	-		0.478	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000251143	Clone_based_vega_gene	protein_coding	OTTHUMT00000395769.1	G			71729063	+1	no_errors	ENST00000502284	ensembl	human	known	70_37	rna	SNP	0.000	A
POTEM	641455	genome.wustl.edu	37	14	20010516	20010516	+	Intron	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:20010516G>A	ENST00000551509.1	-	5	969				RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M											endometrium(4)|kidney(1)|lung(4)	9						ACAATATTAGGGCCACTTATC	0.353																																																	0																																										SO:0001627	intron_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.918-276C>T	14.37:g.20010516G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551509.1	37	NULL	CCDS45076.1	14																																																																																			RP11-244H18.1	-	-		0.353	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ENSG00000258276	Clone_based_vega_gene	protein_coding	OTTHUMT00000409490.3	G	NM_001145442		20010516	+1	no_errors	ENST00000547584	ensembl	human	known	70_37	rna	SNP	0.036	A
RPAIN	84268	genome.wustl.edu	37	17	5328478	5328478	+	Intron	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:5328478C>T	ENST00000381209.3	+	4	883				RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000405578.4_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TGACCCcttccctaatgtcta	0.408																																																	0																																										SO:0001627	intron_variant	0			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.314-813C>T	17.37:g.5328478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	RNA	SNP	-	NULL	ENST00000381209.3	37	NULL	CCDS32536.1	17																																																																																			CTC-524C5.2	-	-		0.408	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263272	Clone_based_vega_gene	protein_coding	OTTHUMT00000439373.1	C	NM_001033002		5328478	-1	no_errors	ENST00000575890	ensembl	human	known	70_37	rna	SNP	0.000	T
MYOCD	93649	genome.wustl.edu	37	17	12663829	12663829	+	Intron	SNP	T	T	A	rs549613957		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:12663829T>A	ENST00000343344.4	+	12	2187				MYOCD_ENST00000425538.1_Intron|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		tttaaagttatgtgtattttg	0.353																																																	0																																										SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2188-138T>A	17.37:g.12663829T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5UBU5|Q8N7Q1	RNA	SNP	-	NULL	ENST00000343344.4	37	NULL	CCDS11163.1	17																																																																																			RP11-1090M7.1	-	-		0.353	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265489	Clone_based_vega_gene	protein_coding	OTTHUMT00000129950.1	T	NM_153604		12663829	-1	no_errors	ENST00000584772	ensembl	human	known	70_37	rna	SNP	0.001	A
AL590483.1	0	genome.wustl.edu	37	1	244228156	244228156	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:244228156T>G	ENST00000598000.1	+	1	525	c.241T>G	c.(241-243)Tac>Gac	p.Y81D																								CAATGCTGCTTACAAGAAAAC	0.438																																																	0													87.0	73.0	77.0					1																	244228156		692	1591	2283	SO:0001583	missense	0																														ENST00000598000.1:c.241T>G	1.37:g.244228156T>G	ENSP00000471578:p.Tyr81Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Y81D	ENST00000598000.1	37	c.241		1																																																																																			AL590483.1	-	NULL		0.438	AL590483.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000268146	Clone_based_ensembl_gene	protein_coding		T			244228156	+1	no_errors	ENST00000598000	ensembl	human	known	70_37	missense	SNP	0.000	G
EP400NL	347918	genome.wustl.edu	37	12	132611225	132611225	+	3'UTR	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:132611225G>T	ENST00000475841.1	+	0	2131							Q6ZTU2	E400N_HUMAN	EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ACGTGCCACAGAGGCAGACTC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000475841.1:c.*2128G>T	12.37:g.132611225G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	SNP	-	NULL	ENST00000475841.1	37	NULL		12																																																																																			EP400NL	-	-		0.567	EP400NL-007	KNOWN	basic	processed_transcript	EP400NL	HGNC	protein_coding	OTTHUMT00000316710.1	G	NM_182613		132611225	+1	no_errors	ENST00000475841	ensembl	human	known	70_37	rna	SNP	0.221	T
FAM114A2	10827	genome.wustl.edu	37	5	153414396	153414396	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:153414396C>T	ENST00000351797.4	-	2	194	c.118G>A	c.(118-120)Gag>Aag	p.E40K	FAM114A2_ENST00000520313.1_Intron|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E40K|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E40K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	40							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GATTTACTCTCTGGTTTGGCA	0.463																																																	0													185.0	191.0	189.0					5																	153414396		2203	4300	6503	SO:0001583	missense	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.118G>A	5.37:g.153414396C>T	ENSP00000341597:p.Glu40Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.E40K	ENST00000351797.4	37	c.118	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341080	0.60963	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000522395;ENST00000523705;ENST00000519808;ENST00000518102;ENST00000522634;ENST00000517605	T;T;T;T;T;T	0.48836	2.38;2.38;2.38;1.38;1.4;0.8	6.16	5.28	0.74379	.	0.840021	0.11017	N	0.608850	T	0.42268	0.1195	L	0.32530	0.975	0.80722	D	1	P	0.46395	0.877	B	0.40165	0.321	T	0.34950	-0.9808	10	0.54805	T	0.06	-0.0959	15.8374	0.78808	0.0:0.8652:0.1348:0.0	.	40	Q9NRY5	F1142_HUMAN	K	40	ENSP00000341597:E40K;ENSP00000430489:E40K;ENSP00000430384:E40K;ENSP00000430186:E40K;ENSP00000428827:E40K;ENSP00000429753:E40K	ENSP00000341597:E40K	E	-	1	0	FAM114A2	153394589	0.022000	0.18835	0.562000	0.28370	0.992000	0.81027	1.717000	0.37991	1.574000	0.49760	0.650000	0.86243	GAG	FAM114A2	-	NULL		0.463	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	C	NM_018691		153414396	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	missense	SNP	0.467	T
FAM69C	125704	genome.wustl.edu	37	18	72114129	72114129	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr18:72114129G>A	ENST00000343998.6	-	2	596	c.588C>T	c.(586-588)taC>taT	p.Y196Y	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						TGAAGTAGACGTACTCCTCCT	0.711																																																	0													8.0	13.0	12.0					18																	72114129		688	1580	2268	SO:0001819	synonymous_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.588C>T	18.37:g.72114129G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.Y196	ENST00000343998.6	37	c.588	CCDS42445.2	18																																																																																			FAM69C	-	superfamily_Kinase-like_dom		0.711	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	G	XM_058931		72114129	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	silent	SNP	0.056	A
FAM90A27P	646508	genome.wustl.edu	37	19	53787417	53787417	+	RNA	SNP	T	T	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:53787417T>A	ENST00000599085.1	+	0	311					NR_046365.1		A6NNH2	F90AR_HUMAN	family with sequence similarity 90, member A27, pseudogene								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CCAAAGGACATGGCAGGGACG	0.587																																																	0																																												646508					19q13.42	2014-03-18			ENSG00000189348	ENSG00000189348			43617	pseudogene	pseudogene							Standard	NR_046365		Approved		uc031rmv.1	A6NNH2	OTTHUMG00000182909		19.37:g.53787417T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599085.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.513809	0.00151	.	.	ENSG00000189348	ENST00000338885	.	.	.	1.61	-3.22	0.05125	.	20.891100	0.00166	N	0.000000	T	0.15176	0.0366	.	.	.	0.24442	N	0.994524	.	.	.	.	.	.	T	0.42982	-0.9419	5	0.02654	T	1	.	8.2272	0.31575	0.1498:0.6722:0.0:0.178	.	.	.	.	Q	200	.	ENSP00000341223:H200Q	H	+	3	2	AC092070.1	58479229	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.809000	0.00756	-3.486000	0.00154	-2.875000	0.00098	CAT	FAM90A27P	-	-		0.587	FAM90A27P-002	KNOWN	basic	processed_transcript	FAM90A27P	HGNC	pseudogene	OTTHUMT00000464290.1	T	NR_046365		53787417	+1	no_errors	ENST00000599085	ensembl	human	known	70_37	rna	SNP	0.000	A
FBXO11	80204	genome.wustl.edu	37	2	48059985	48059985	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:48059985T>G	ENST00000403359.3	-	9	1148	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000316377.4_Missense_Mutation_p.N275T|FBXO11_ENST00000402508.1_Missense_Mutation_p.N275T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	359					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGGTGTGCATTGTGGTGTTG	0.308			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											171.0	157.0	161.0					2																	48059985		2203	4300	6503	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1076A>C	2.37:g.48059985T>G	ENSP00000384823:p.Asn359Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.N359T	ENST00000403359.3	37	c.1076	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.32|14.32	2.498943|2.498943	0.44455|0.44455	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377|ENST00000493962	T;T;T|.	0.43688|.	0.96;0.94;0.96|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52191|0.52191	0.1719|0.1719	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P|.	0.49559|.	0.925|.	D|.	0.65140|.	0.932|.	T|T	0.49072|0.49072	-0.8977|-0.8977	10|5	0.17369|.	T|.	0.5|.	-22.7902|-22.7902	16.4534|16.4534	0.84003|0.84003	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	359|.	Q86XK2|.	FBX11_HUMAN|.	T|H	275;359;275|150	ENSP00000385398:N275T;ENSP00000384823:N359T;ENSP00000323822:N275T|.	ENSP00000323822:N275T|.	N|Q	-|-	2|3	0|2	FBXO11|FBXO11	47913489|47913489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.289000|6.289000	0.72696|0.72696	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	AAT|CAA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like		0.308	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	T	NM_012167, NM_018693, NM_025133		48059985	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	G
FGF18	8817	genome.wustl.edu	37	5	170883576	170883576	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:170883576G>A	ENST00000274625.5	+	5	935	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	131					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTGTTCATCGAGAAGGTTCT	0.567																																																	0													87.0	84.0	85.0					5																	170883576		2203	4300	6503	SO:0001583	missense	8817			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.391G>A	5.37:g.170883576G>A	ENSP00000274625:p.Glu131Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQL7|Q6UWF1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.E131K	ENST00000274625.5	37	c.391	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953716	0.92660	.	.	ENSG00000156427	ENST00000274625	D	0.89050	-2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98202	1.0468	10	0.87932	D	0	-7.2626	18.4784	0.90802	0.0:0.0:1.0:0.0	.	131	O76093	FGF18_HUMAN	K	131	ENSP00000274625:E131K	ENSP00000274625:E131K	E	+	1	0	FGF18	170816181	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	9.476000	0.97823	2.468000	0.83385	0.655000	0.94253	GAG	FGF18	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	G	NM_033649, NM_003862		170883576	+1	no_errors	ENST00000274625	ensembl	human	known	70_37	missense	SNP	1.000	A
FGL1	2267	genome.wustl.edu	37	8	17731893	17731893	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:17731893C>A	ENST00000398056.2	-	6	1197	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	FGL1_ENST00000518650.1_Missense_Mutation_p.D128Y|FGL1_ENST00000522444.1_Missense_Mutation_p.D128Y|FGL1_ENST00000381840.2_Missense_Mutation_p.D128Y|FGL1_ENST00000398054.1_Missense_Mutation_p.D128Y|FGL1_ENST00000381841.2_Missense_Mutation_p.D128Y|FGL1_ENST00000427924.1_Missense_Mutation_p.D128Y			Q08830	FGL1_HUMAN	fibrinogen-like 1	128	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCACTGCCATCAGATCGTCTC	0.363																																																	0													135.0	126.0	129.0					8																	17731893		2203	4300	6503	SO:0001583	missense	2267			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.382G>T	8.37:g.17731893C>A	ENSP00000381133:p.Asp128Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.D128Y	ENST00000398056.2	37	c.382	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019108	0.75275	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.188913	0.56097	D	0.000027	D	0.94311	0.8172	H	0.96430	3.82	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.989;0.997;1.0	D	0.95911	0.8923	10	0.87932	D	0	.	18.9683	0.92706	0.0:1.0:0.0:0.0	.	98;128;128	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	Y	128;128;98;128;128;128;128;128;128	ENSP00000381133:D128Y;ENSP00000429757:D128Y;ENSP00000371263:D128Y;ENSP00000401952:D128Y;ENSP00000381131:D128Y;ENSP00000371262:D128Y;ENSP00000428430:D128Y	ENSP00000221204:D128Y	D	-	1	0	FGL1	17776173	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.108000	0.57817	2.562000	0.86427	0.555000	0.69702	GAT	FGL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.363	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	C	NM_004467		17731893	-1	no_errors	ENST00000221204	ensembl	human	known	70_37	missense	SNP	1.000	A
FLVCR1	28982	genome.wustl.edu	37	1	213031340	213031340	+	5'Flank	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:213031340C>G	ENST00000366971.4	+	0	0				FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		atcgagacccctttttccagc	0.592																																					Esophageal Squamous(199;2235 2952 19233 26256)												0																																										SO:0001631	upstream_gene_variant	642946			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924		1.37:g.213031340C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1HE16|Q86XY9|Q9NVR9	RNA	SNP	-	NULL	ENST00000366971.4	37	NULL	CCDS1510.1	1																																																																																			FLVCR1-AS1	-	-		0.592	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1-AS1	HGNC	protein_coding	OTTHUMT00000089678.2	C	NM_014053		213031340	-1	no_errors	ENST00000356684	ensembl	human	known	70_37	rna	SNP	0.077	G
GNAS	2778	genome.wustl.edu	37	20	57429140	57429140	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:57429140C>G	ENST00000371100.4	+	1	1372	c.820C>G	c.(820-822)Ccc>Gcc	p.P274A	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.P274A|GNAS_ENST00000371102.4_Missense_Mutation_p.P274A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.L210L	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAACGCGCCTCCCCTCTGGGT	0.677			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													12.0	14.0	14.0					20																	57429140		1859	4029	5888	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.820C>G	20.37:g.57429140C>G	ENSP00000360141:p.Pro274Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.P274A	ENST00000371100.4	37	c.820	CCDS46622.1	20	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159775	0.09287	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.91180	-2.8;-2.78	3.77	2.8	0.32819	.	18.536000	0.00166	N	0.000013	D	0.85725	0.5763	N	0.24115	0.695	0.80722	D	1	B	0.21452	0.056	B	0.12837	0.008	T	0.69480	-0.5134	10	0.54805	T	0.06	.	9.2911	0.37786	0.0:0.7795:0.2205:0.0	.	274	Q5JWF2	GNAS1_HUMAN	A	274	ENSP00000360141:P274A;ENSP00000360143:P274A	ENSP00000360140:P274A	P	+	1	0	GNAS	56862535	0.664000	0.27457	0.944000	0.38274	0.020000	0.10135	0.859000	0.27858	1.141000	0.42275	0.561000	0.74099	CCC	GNAS	-	NULL		0.677	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	C	NM_000516		57429140	+1	no_errors	ENST00000371100	ensembl	human	putative	70_37	missense	SNP	0.992	G
GPATCH8	23131	genome.wustl.edu	37	17	42501730	42501730	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:42501730T>A	ENST00000591680.1	-	6	509	c.479A>T	c.(478-480)cAt>cTt	p.H160L	GPATCH8_ENST00000586265.1_5'Flank|GPATCH8_ENST00000434000.1_Missense_Mutation_p.H82L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	160							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTGTGTGCATGATCATAGGA	0.378																																																	0													150.0	140.0	143.0					17																	42501730		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.479A>T	17.37:g.42501730T>A	ENSP00000467556:p.His160Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.H160L	ENST00000591680.1	37	c.479	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878293	0.72294	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.14022	2.54	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49303	-0.8954	10	0.87932	D	0	-13.0781	15.3206	0.74117	0.0:0.0:0.0:1.0	.	160	Q9UKJ3	GPTC8_HUMAN	L	160;82	ENSP00000395016:H82L	ENSP00000335486:H160L	H	-	2	0	GPATCH8	39857256	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.027000	0.59764	0.477000	0.44152	CAT	GPATCH8	-	pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2		0.378	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	T	NM_001002909		42501730	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48908592	48908592	+	Missense_Mutation	SNP	G	G	A	rs369036985		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:48908592G>A	ENST00000263269.3	+	3	1155	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCACCCACCGCGGCGAGAGT	0.622																																																	0								G	HIS/ARG	1,4399		0,1,2199	14.0	16.0	16.0		1067	4.3	1.0	19		16	0,8586		0,0,4293	no	missense	GRIN2D	NM_000836.2	29	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/1337	48908592	1,12985	2200	4293	6493	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1067G>A	19.37:g.48908592G>A	ENSP00000263269:p.Arg356His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R356H	ENST00000263269.3	37	c.1067	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271301	0.59649	2.27E-4	0.0	ENSG00000105464	ENST00000263269	T	0.15834	2.39	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.15912	0.0383	L	0.34521	1.04	0.25085	N	0.990892	D	0.62365	0.991	P	0.46299	0.511	T	0.07501	-1.0769	10	0.46703	T	0.11	.	10.1241	0.42639	0.0:0.0:0.676:0.324	.	356	O15399	NMDE4_HUMAN	H	356	ENSP00000263269:R356H	ENSP00000263269:R356H	R	+	2	0	GRIN2D	53600404	0.229000	0.23729	0.998000	0.56505	0.908000	0.53690	1.297000	0.33400	2.116000	0.64780	0.561000	0.74099	CGC	GRIN2D	-	NULL		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	G			48908592	+1	no_errors	ENST00000263269	ensembl	human	known	70_37	missense	SNP	0.525	A
GRM1	2911	genome.wustl.edu	37	6	146755015	146755015	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:146755015G>T	ENST00000282753.1	+	8	2903	c.2668G>T	c.(2668-2670)Ggc>Tgc	p.G890C	GRM1_ENST00000507907.1_Intron|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.G890C|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	890					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TAGTTCTAATGGCAAGTCTGT	0.448																																																	0													51.0	49.0	49.0					6																	146755015		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2668G>T	6.37:g.146755015G>T	ENSP00000282753:p.Gly890Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.G890C	ENST00000282753.1	37	c.2668	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323741	0.81580	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.52754	0.65;0.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70081	-0.4970	10	0.87932	D	0	.	19.1666	0.93560	0.0:0.0:1.0:0.0	.	890	Q13255	GRM1_HUMAN	C	890	ENSP00000354896:G890C;ENSP00000282753:G890C	ENSP00000282753:G890C	G	+	1	0	GRM1	146796708	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.471000	0.97696	2.513000	0.84729	0.455000	0.32223	GGC	GRM1	-	NULL		0.448	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146755015	+1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	1.000	T
GTF2A1	2957	genome.wustl.edu	37	14	81659058	81659058	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:81659058G>A	ENST00000553612.1	-	7	1141	c.738C>T	c.(736-738)gcC>gcT	p.A246A	GTF2A1_ENST00000434192.2_Silent_p.A207A	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	246					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TCTGTGCTTGGGCTGGTGTAG	0.488																																																	0													167.0	160.0	163.0					14																	81659058		2203	4300	6503	SO:0001819	synonymous_variant	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.738C>T	14.37:g.81659058G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNQ9	Silent	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.A246	ENST00000553612.1	37	c.738	CCDS9873.1	14																																																																																			GTF2A1	-	pfam_TFIIA_asu/bsu		0.488	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81659058	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	silent	SNP	0.996	A
H1F0	3005	genome.wustl.edu	37	22	38201875	38201875	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr22:38201875G>C	ENST00000340857.2	+	1	762	c.324G>C	c.(322-324)aaG>aaC	p.K108N	GCAT_ENST00000248924.6_5'Flank|GCAT_ENST00000323205.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	108					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					TGGCCTTCAAGAAGACCAAGA	0.577																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)												0													63.0	70.0	67.0					22																	38201875		2203	4300	6503	SO:0001583	missense	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.324G>C	22.37:g.38201875G>C	ENSP00000344504:p.Lys108Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K108N	ENST00000340857.2	37	c.324	CCDS13956.1	22	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458775	0.63401	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.08282	3.11	5.27	5.27	0.74061	.	1.128570	0.06713	N	0.773633	T	0.09949	0.0244	L	0.38175	1.15	0.44110	D	0.996888	P	0.39480	0.675	B	0.26864	0.074	T	0.49771	-0.8904	10	0.62326	D	0.03	.	19.2929	0.94110	0.0:0.0:1.0:0.0	.	108	P07305	H10_HUMAN	N	108;91	ENSP00000344504:K108N	ENSP00000344504:K108N	K	+	3	2	H1F0	36531821	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.086000	0.50159	2.636000	0.89361	0.655000	0.94253	AAG	H1F0	-	NULL		0.577	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1F0	HGNC	protein_coding	OTTHUMT00000319453.1	G	NM_005318		38201875	+1	no_errors	ENST00000340857	ensembl	human	known	70_37	missense	SNP	1.000	C
HAO1	54363	genome.wustl.edu	37	20	7915153	7915153	+	Silent	SNP	G	G	A	rs138052675		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:7915153G>A	ENST00000378789.3	-	2	318	c.267C>T	c.(265-267)gaC>gaT	p.D89D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	89	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAAGCTCGCCGTCCACATGAG	0.522																																																	0								G		0,4406		0,0,2203	103.0	94.0	97.0		267	-5.2	0.6	20	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HAO1	NM_017545.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		89/371	7915153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54363			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.267C>T	20.37:g.7915153G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.D89	ENST00000378789.3	37	c.267	CCDS13100.1	20																																																																																			HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.522	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	G			7915153	-1	no_errors	ENST00000378789	ensembl	human	known	70_37	silent	SNP	0.946	A
HLA-A	3105	genome.wustl.edu	37	6	29911302	29911302	+	Nonsense_Mutation	SNP	G	G	T	rs41546018		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:29911302G>T	ENST00000396634.1	+	5	942	c.601G>T	c.(601-603)Gag>Tag	p.E201*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E201*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E201*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	201	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAACGGGAAGGAGACGCTGCA	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.601G>T	6.37:g.29911302G>T	ENSP00000379873:p.Glu201*	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E201*	ENST00000396634.1	37	c.601	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	37	6.618998	0.97709	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	.	.	.	3.54	3.54	0.40534	.	1.724340	0.04698	U	0.415309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	13.0189	0.58775	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000365998:E201X	E	+	1	0	HLA-A	30019281	0.951000	0.32395	0.529000	0.27951	0.371000	0.29859	1.475000	0.35409	1.987000	0.57996	0.485000	0.47835	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29911302	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.975	T
HMHA1	23526	genome.wustl.edu	37	19	1080508	1080508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:1080508C>G	ENST00000313093.2	+	15	2105	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	HMHA1_ENST00000590214.1_Nonsense_Mutation_p.S652*|HMHA1_ENST00000539243.2_Nonsense_Mutation_p.S641*|HMHA1_ENST00000586866.1_Nonsense_Mutation_p.S629*|HMHA1_ENST00000590577.1_Nonsense_Mutation_p.S260*|HMHA1_ENST00000536472.1_Nonsense_Mutation_p.S493*|HMHA1_ENST00000543365.1_Nonsense_Mutation_p.S508*	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	625					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCGATCTCAGACTCGGAC	0.677																																																	0													39.0	44.0	42.0					19																	1080508		2202	4297	6499	SO:0001587	stop_gained	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1874C>G	19.37:g.1080508C>G	ENSP00000316772:p.Ser625*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S625*	ENST00000313093.2	37	c.1874	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	C	38	7.130907	0.98085	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	.	.	.	4.17	3.13	0.36017	.	0.263915	0.34200	U	0.004180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-7.5795	10.0287	0.42087	0.0:0.8969:0.0:0.1031	.	.	.	.	X	641;625;625;493;619;508	.	ENSP00000316772:S625X	S	+	2	0	HMHA1	1031508	0.001000	0.12720	0.017000	0.16124	0.050000	0.14768	1.017000	0.29989	1.885000	0.54596	0.555000	0.69702	TCA	HMHA1	-	NULL		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	C			1080508	+1	no_errors	ENST00000313093	ensembl	human	known	70_37	nonsense	SNP	0.084	G
HOXD10	3236	genome.wustl.edu	37	2	176982188	176982188	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:176982188G>C	ENST00000249501.4	+	1	882	c.627G>C	c.(625-627)gaG>gaC	p.E209D	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	209					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCCAGGAGCCCACCAAAG	0.652																																																	0													22.0	28.0	26.0					2																	176982188		2194	4277	6471	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.627G>C	2.37:g.176982188G>C	ENSP00000249501:p.Glu209Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E209D	ENST00000249501.4	37	c.627	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409359	0.11812	.	.	ENSG00000128710	ENST00000249501	D	0.93811	-3.29	5.96	5.06	0.68205	.	0.321305	0.36972	N	0.002318	D	0.83885	0.5351	N	0.05534	-0.03	0.27355	N	0.956137	B	0.02656	0.0	B	0.01281	0.0	T	0.67181	-0.5735	10	0.13853	T	0.58	.	13.4303	0.61051	0.0:0.3701:0.6299:0.0	.	209	P28358	HXD10_HUMAN	D	209	ENSP00000249501:E209D	ENSP00000249501:E209D	E	+	3	2	HOXD10	176690434	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	1.699000	0.37804	2.843000	0.97960	0.650000	0.86243	GAG	HOXD10	-	NULL		0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982188	+1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	1.000	C
HRNR	388697	genome.wustl.edu	37	1	152192981	152192981	+	Missense_Mutation	SNP	C	C	T	rs555346363		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:152192981C>T	ENST00000368801.2	-	3	1199	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	375					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGTTGTCCCTGGCTAGA	0.557																																																	0													175.0	156.0	163.0					1																	152192981		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1124G>A	1.37:g.152192981C>T	ENSP00000357791:p.Gly375Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G375E	ENST00000368801.2	37	c.1124	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.033	0.561038	0.13498	.	.	ENSG00000197915	ENST00000368801	T	0.02974	4.09	4.53	0.591	0.17465	.	.	.	.	.	T	0.00637	0.0021	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.27076	0.076	T	0.45234	-0.9275	9	0.22706	T	0.39	.	7.9096	0.29782	0.0:0.6402:0.0:0.3598	.	375	Q86YZ3	HORN_HUMAN	E	375	ENSP00000357791:G375E	ENSP00000357791:G375E	G	-	2	0	HRNR	150459605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.307000	0.02733	-0.044000	0.13491	-0.147000	0.13772	GGA	HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152192981	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
INVS	27130	genome.wustl.edu	37	9	103060280	103060280	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr9:103060280C>T	ENST00000262457.2	+	16	3264	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	INVS_ENST00000541287.1_Missense_Mutation_p.R931C|INVS_ENST00000262456.2_Missense_Mutation_p.R857C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1027					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R1027C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTCTGTGCTGCGTCTCAACTC	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											95.0	90.0	91.0					9																	103060280		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3079C>T	9.37:g.103060280C>T	ENSP00000262457:p.Arg1027Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R1027C	ENST00000262457.2	37	c.3079	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308150	0.23821	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.45668	0.89;1.01;0.92	4.96	3.1	0.35709	.	0.934954	0.09140	N	0.843055	T	0.36880	0.0983	L	0.29908	0.895	0.31063	N	0.71387	D;P;B	0.65815	0.995;0.876;0.001	P;B;B	0.46975	0.533;0.232;0.001	T	0.36163	-0.9759	10	0.66056	D	0.02	.	8.5179	0.33257	0.0:0.753:0.1642:0.0828	.	931;1027;857	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	1027;931;857	ENSP00000262457:R1027C;ENSP00000444454:R931C;ENSP00000262456:R857C	ENSP00000262456:R857C	R	+	1	0	INVS	102100101	0.001000	0.12720	0.918000	0.36340	0.278000	0.26855	0.226000	0.17776	0.783000	0.33636	-0.266000	0.10368	CGT	INVS	-	NULL		0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103060280	+1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.890	T
KCNB2	9312	genome.wustl.edu	37	8	73849283	73849283	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:73849283G>A	ENST00000523207.1	+	3	2281	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	565					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGAAAAGCCTGAGAGGCCATC	0.502																																																	0													87.0	79.0	81.0					8																	73849283		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1693G>A	8.37:g.73849283G>A	ENSP00000430846:p.Glu565Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E565K	ENST00000523207.1	37	c.1693	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559275	0.27827	.	.	ENSG00000182674	ENST00000523207	T	0.23552	1.9	4.93	4.93	0.64822	.	0.166852	0.28093	N	0.016640	T	0.20941	0.0504	N	0.22421	0.69	0.26459	N	0.975476	B	0.26602	0.154	B	0.31101	0.124	T	0.10636	-1.0621	10	0.19590	T	0.45	.	18.323	0.90244	0.0:0.0:1.0:0.0	.	565	Q92953	KCNB2_HUMAN	K	565	ENSP00000430846:E565K	ENSP00000430846:E565K	E	+	1	0	KCNB2	74011837	0.167000	0.22975	0.946000	0.38457	0.954000	0.61252	2.072000	0.41510	2.543000	0.85770	0.655000	0.94253	GAG	KCNB2	-	pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849283	+1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	0.597	A
KIAA0125	9834	genome.wustl.edu	37	14	106391574	106391574	+	3'UTR	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:106391574C>T	ENST00000482999.1	+	0	2685					NR_026800.2		Q9NZY2	K0125_HUMAN	KIAA0125																		TCCTCAGTTTCCAAGTGCTGC	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	9834			AB019441		14q32.33	2014-04-01			ENSG00000226777	ENSG00000226777			19955	other	unknown			"""family with sequence similarity 30, member A"", ""chromosome 14 open reading frame 110"""	FAM30A, C14orf110		8590280	Standard	NR_026800		Approved	HSPC053	uc001ysq.3	Q9NZY2	OTTHUMG00000152318	ENST00000482999.1:c.*2682C>T	14.37:g.106391574C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8W9	RNA	SNP	-	NULL	ENST00000482999.1	37	NULL		14																																																																																			KIAA0125	-	-		0.597	KIAA0125-002	KNOWN	basic	processed_transcript	KIAA0125	HGNC	protein_coding	OTTHUMT00000325877.1	C	NM_014792		106391574	+1	no_errors	ENST00000482999	ensembl	human	known	70_37	rna	SNP	0.010	T
KIAA0232	9778	genome.wustl.edu	37	4	6860223	6860223	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:6860223C>G	ENST00000307659.5	+	6	963	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Q170E	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	170							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGCAAAGGATCAAGTGGAAAT	0.358																																																	0													45.0	43.0	44.0					4																	6860223		1831	4081	5912	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.508C>G	4.37:g.6860223C>G	ENSP00000303928:p.Gln170Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.Q170E	ENST00000307659.5	37	c.508	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568577	0.86439	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.44542	1.39	0.58432	D	0.999998	D	0.61697	0.99	D	0.72982	0.979	T	0.76024	-0.3110	9	0.72032	D	0.01	-11.3209	19.5353	0.95251	0.0:1.0:0.0:0.0	.	170	Q92628	K0232_HUMAN	E	170	.	ENSP00000303928:Q170E	Q	+	1	0	KIAA0232	6911124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.791000	0.75120	2.618000	0.88619	0.650000	0.86243	CAA	KIAA0232	-	NULL		0.358	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	C	NM_014743		6860223	+1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA1217	56243	genome.wustl.edu	37	10	24825775	24825775	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:24825775G>A	ENST00000376454.3	+	17	3517	c.3487G>A	c.(3487-3489)Gtt>Att	p.V1163I	KIAA1217_ENST00000396445.1_Missense_Mutation_p.V846I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V846I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V1128I|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V1127I|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V846I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1163					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGACAGTCACGTTAAAGACAC	0.488																																																	0													103.0	93.0	97.0					10																	24825775		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3487G>A	10.37:g.24825775G>A	ENSP00000365637:p.Val1163Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.V1163I	ENST00000376454.3	37	c.3487	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017640	0.19355	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.42900	1.53;1.94;1.53;0.97;0.96;1.55	5.07	0.754	0.18410	.	0.844698	0.10279	N	0.693836	T	0.28433	0.0703	N	0.26042	0.785	0.22280	N	0.999231	B;B;B;B;B;B	0.19817	0.03;0.039;0.009;0.037;0.021;0.013	B;B;B;B;B;B	0.17098	0.008;0.005;0.003;0.017;0.006;0.004	T	0.25222	-1.0138	10	0.19590	T	0.45	.	10.8635	0.46839	0.0757:0.5471:0.3772:0.0	.	1128;1127;846;846;846;1163	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	I	1128;846;1163;1127;846;846;846;846	ENSP00000392625:V1128I;ENSP00000365637:V1163I;ENSP00000365635:V1127I;ENSP00000302343:V846I;ENSP00000379722:V846I;ENSP00000365634:V846I	ENSP00000302343:V846I	V	+	1	0	KIAA1217	24865781	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	0.889000	0.28282	-0.121000	0.11787	-0.300000	0.09419	GTT	KIAA1217	-	NULL		0.488	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	G	NM_019590		24825775	+1	no_errors	ENST00000376454	ensembl	human	known	70_37	missense	SNP	0.999	A
KIAA1244	57221	genome.wustl.edu	37	6	138613167	138613167	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:138613167C>T	ENST00000251691.4	+	19	3511	c.3345C>T	c.(3343-3345)ctC>ctT	p.L1115L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGTGGTGCTCACCCTCTCCA	0.701																																																	0													4.0	5.0	5.0					6																	138613167		2025	4083	6108	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3345C>T	6.37:g.138613167C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.L1115	ENST00000251691.4	37	c.3345	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138613167	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA1407	57577	genome.wustl.edu	37	3	113753989	113753989	+	Missense_Mutation	SNP	C	C	G	rs374309452		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:113753989C>G	ENST00000295878.3	-	6	747	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E32Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	201										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAGCGATTTTCTTTTACCTTA	0.378																																																	0													65.0	66.0	66.0					3																	113753989		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.601G>C	3.37:g.113753989C>G	ENSP00000295878:p.Glu201Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.E201Q	ENST00000295878.3	37	c.601	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203637	0.79127	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.59906	0.61;0.23;0.31	5.35	5.35	0.76521	.	0.054054	0.64402	D	0.000001	T	0.73768	0.3629	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.71262	-0.4645	10	0.41790	T	0.15	.	19.2467	0.93905	0.0:1.0:0.0:0.0	.	188;77;201	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Q	201;32;188;165	ENSP00000295878:E201Q;ENSP00000446381:E32Q;ENSP00000418099:E188Q	ENSP00000295878:E201Q	E	-	1	0	KIAA1407	115236679	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.411000	0.66386	2.784000	0.95788	0.585000	0.79938	GAA	KIAA1407	-	NULL		0.378	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113753989	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	1.000	G
KPNA1	3836	genome.wustl.edu	37	3	122144682	122144682	+	3'UTR	SNP	T	T	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:122144682T>C	ENST00000344337.6	-	0	2943				KPNA1_ENST00000466923.1_5'Flank|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GAGAAGATGGTTATTTCTTTC	0.358																																					Melanoma(12;340 801 11196 19797)												0																																										SO:0001624	3_prime_UTR_variant	3836			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.*1150A>G	3.37:g.122144682T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN93|Q6IBQ9|Q9BQ56	RNA	SNP	-	NULL	ENST00000344337.6	37	NULL	CCDS3013.1	3																																																																																			KPNA1	-	-		0.358	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	T	NM_002264		122144682	-1	no_errors	ENST00000470904	ensembl	human	known	70_37	rna	SNP	0.000	C
LINC00670	284034	genome.wustl.edu	37	17	12493990	12493990	+	lincRNA	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:12493990G>T	ENST00000313495.2	+	0	691					NR_034144.1|NR_034145.1				long intergenic non-protein coding RNA 670																		acatttgtctggacggagtag	0.438																																																	0																																												284034			BC122870, DB255288		17p12	2012-10-12			ENSG00000179136	ENSG00000179136		"""Long non-coding RNAs"""	44338	non-coding RNA	RNA, long non-coding							Standard	NR_034144		Approved	FLJ34690	uc002gnl.2		OTTHUMG00000058766		17.37:g.12493990G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000313495.2	37	NULL		17																																																																																			LINC00670	-	-		0.438	LINC00670-001	KNOWN	basic	lincRNA	LINC00670	HGNC	lincRNA	OTTHUMT00000129946.2	G	NR_034144		12493990	+1	no_errors	ENST00000313495	ensembl	human	known	70_37	rna	SNP	0.002	T
LINC01531	100128682	genome.wustl.edu	37	19	35899196	35899196	+	lincRNA	SNP	T	T	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:35899196T>A	ENST00000536898.1	+	0	1785					NR_040046.1																						agacgaggtttcaacccctac	0.557																																																	0																																												100128682																															19.37:g.35899196T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000536898.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	T	5.123	0.208307	0.09757	.	.	ENSG00000205786	ENST00000536898	.	.	.	0.158	0.158	0.14942	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27502	-1.0072	3	.	.	.	.	.	.	.	.	.	.	.	T	183	.	.	S	+	1	0	AC002511.1	40591036	0.005000	0.15991	0.004000	0.12327	0.006000	0.05464	0.215000	0.17562	0.175000	0.19841	0.172000	0.16884	TCA	AC002511.1	-	-		0.557	AC002511.1-002	KNOWN	basic	lincRNA	LOC100128682	Clone_based_vega_gene	lincRNA	OTTHUMT00000466118.1	T			35899196	+1	no_errors	ENST00000536898	ensembl	human	known	70_37	rna	SNP	0.004	A
Unknown	0	genome.wustl.edu	37	3	195435185	195435185	+	IGR	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:195435185C>T								MIR570 (8817 upstream) : MUC20 (12567 downstream)																							AAGCTGGATGCGATGGCTGGC	0.557																																																	0																																										SO:0001628	intergenic_variant	440993																															3.37:g.195435185C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		3																																																																																			AC069513.3	-	-	0	0.557					LOC440993	Clone_based_vega_gene			C			195435185	+1	no_errors	ENST00000417704	ensembl	human	known	70_37	rna	SNP	0.001	T
LONRF3	79836	genome.wustl.edu	37	X	118124432	118124432	+	Splice_Site	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:118124432G>A	ENST00000371628.3	+	5	1355		c.e5-1		LONRF3_ENST00000472173.1_Splice_Site|LONRF3_ENST00000422289.2_Splice_Site|LONRF3_ENST00000304778.7_Splice_Site	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTAAATCGCAGATCCTCCCAC	0.478																																																	0													236.0	164.0	188.0					X																	118124432		2203	4300	6503	SO:0001630	splice_region_variant	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1325-1G>A	X.37:g.118124432G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPN6|Q8NB00|Q9H647	Splice_Site	SNP	-	e5-1	ENST00000371628.3	37	c.1325-1	CCDS35374.1	X	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740818	0.30865	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000439603;ENST00000422289	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.35	0.74376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONRF3	118008460	1.000000	0.71417	0.997000	0.53966	0.119000	0.20118	5.287000	0.65645	2.357000	0.79964	0.600000	0.82982	.	LONRF3	-	-		0.478	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	G	NM_024778	Intron	118124432	+1	no_errors	ENST00000371628	ensembl	human	known	70_37	splice_site	SNP	0.975	A
LPHN3	23284	genome.wustl.edu	37	4	62800635	62800635	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:62800635G>T	ENST00000514591.1	+	13	2315	c.1986G>T	c.(1984-1986)caG>caT	p.Q662H	LPHN3_ENST00000504896.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000512091.2_Missense_Mutation_p.Q662H|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q730H|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q662H|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q730H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	649					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAGTGATCAGCTGCGTGCGG	0.468																																																	0													94.0	100.0	98.0					4																	62800635		2090	4216	6306	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1986G>T	4.37:g.62800635G>T	ENSP00000422533:p.Gln662His	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q730H	ENST00000514591.1	37	c.2190	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.661742|1.661742	0.29515|0.29515	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.11930	.|2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.43|5.43	-2.28|-2.28	0.06826|0.06826	.|Domain of unknown function DUF3497 (1);	.|0.113162	.|0.64402	.|D	.|0.000009	T|T	0.24624|0.24624	0.0597|0.0597	M|M	0.71206|0.71206	2.165|2.165	0.44188|0.44188	D|D	0.997004|0.997004	.|P;P;P	.|0.50369	.|0.934;0.934;0.919	.|P;P;P	.|0.53593	.|0.73;0.73;0.61	T|T	0.15521|0.15521	-1.0434|-1.0434	5|10	.|0.87932	.|D	.|0	.|.	13.3906|13.3906	0.60823|0.60823	0.4464:0.0:0.5536:0.0|0.4464:0.0:0.5536:0.0	.|.	.|662;649;662	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	S|H	120|662;662;730;730;662;649;662;649;662;730;730;730;662;662;662;730;730;662	.|ENSP00000423388:Q662H;ENSP00000422533:Q662H;ENSP00000423787:Q730H;ENSP00000425033:Q730H;ENSP00000424120:Q662H;ENSP00000439831:Q662H;ENSP00000421476:Q730H;ENSP00000424030:Q730H;ENSP00000421372:Q730H;ENSP00000425201:Q662H;ENSP00000423434:Q662H;ENSP00000421627:Q662H;ENSP00000420931:Q730H;ENSP00000425884:Q730H;ENSP00000424258:Q662H	.|ENSP00000280009:Q662H	A|Q	+|+	1|3	0|2	LPHN3|LPHN3	62483230|62483230	0.991000|0.991000	0.36638|0.36638	0.959000|0.959000	0.39883|0.39883	0.025000|0.025000	0.11179|0.11179	0.382000|0.382000	0.20635|0.20635	-0.270000|-0.270000	0.09285|0.09285	-0.806000|-0.806000	0.03193|0.03193	GCT|CAG	LPHN3	-	pfam_DUF3497		0.468	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62800635	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	0.997	T
LRIG2	9860	genome.wustl.edu	37	1	113657360	113657360	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:113657360C>T	ENST00000361127.5	+	15	2590	c.2392C>T	c.(2392-2394)Cat>Tat	p.H798Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	798					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TAGCATTGGGCATGAAGATGA	0.448																																																	0													222.0	167.0	186.0					1																	113657360		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2392C>T	1.37:g.113657360C>T	ENSP00000355396:p.His798Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H798Y	ENST00000361127.5	37	c.2392	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	C	4.397	0.073278	0.08485	.	.	ENSG00000198799	ENST00000361127	T	0.61510	0.1	5.28	4.37	0.52481	.	0.121175	0.64402	N	0.000016	T	0.10252	0.0251	N	0.04508	-0.205	0.36764	D	0.883454	B	0.09022	0.002	B	0.06405	0.002	T	0.28427	-1.0044	10	0.02654	T	1	.	6.1798	0.20465	0.1507:0.6957:0.0:0.1537	.	798	O94898	LRIG2_HUMAN	Y	798	ENSP00000355396:H798Y	ENSP00000355396:H798Y	H	+	1	0	LRIG2	113458883	0.973000	0.33851	0.995000	0.50966	0.937000	0.57800	1.877000	0.39598	1.223000	0.43536	-0.258000	0.10820	CAT	LRIG2	-	NULL		0.448	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	C	NM_014813		113657360	+1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	0.935	T
LYPLAL1	127018	genome.wustl.edu	37	1	219347293	219347293	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:219347293A>T	ENST00000366928.5	+	1	108	c.61A>T	c.(61-63)Agc>Tgc	p.S21C	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.S21C|LYPLAL1_ENST00000483635.1_3'UTR|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	21					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AGGGAGGCATAGCGCCTCTCT	0.592																																																	0													89.0	79.0	82.0					1																	219347293		2203	4300	6503	SO:0001583	missense	127018			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.61A>T	1.37:g.219347293A>T	ENSP00000355895:p.Ser21Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.S21C	ENST00000366928.5	37	c.61	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984612	0.74474	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.23950	1.88;1.88	5.14	3.98	0.46160	Phospholipase/carboxylesterase/thioesterase (1);	0.295055	0.36893	N	0.002345	T	0.41534	0.1163	M	0.69358	2.11	0.40100	D	0.976366	D;D	0.76494	0.999;0.999	P;P	0.61070	0.869;0.883	T	0.36841	-0.9731	10	0.87932	D	0	.	8.26	0.31779	0.8236:0.0:0.0:0.1764	.	21;21	Q5VWZ2-2;Q5VWZ2	.;LYPL1_HUMAN	C	21	ENSP00000355895:S21C;ENSP00000355894:S21C	ENSP00000355894:S21C	S	+	1	0	LYPLAL1	217413916	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.194000	0.42668	1.045000	0.40225	0.482000	0.46254	AGC	LYPLAL1	-	pfam_PLipase/COase/thioEstase		0.592	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	A	NM_138794		219347293	+1	no_errors	ENST00000366928	ensembl	human	known	70_37	missense	SNP	1.000	T
MIER2	54531	genome.wustl.edu	37	19	308613	308613	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:308613G>A	ENST00000264819.4	-	12	1172	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCCGGGCGCGGACGGCCG	0.716																																																	0													17.0	25.0	22.0					19																	308613		2200	4292	6492	SO:0001583	missense	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1162C>T	19.37:g.308613G>A	ENSP00000264819:p.Arg388Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R388C	ENST00000264819.4	37	c.1162	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202043	0.22121	.	.	ENSG00000105556	ENST00000264819	T	0.16073	2.37	3.01	3.01	0.34805	.	3.081050	0.01903	U	0.039315	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14008	-1.0488	10	0.54805	T	0.06	-3.6704	9.6147	0.39685	0.0:0.0:1.0:0.0	.	388	Q8N344	MIER2_HUMAN	C	388	ENSP00000264819:R388C	ENSP00000264819:R388C	R	-	1	0	MIER2	259613	0.597000	0.26874	0.003000	0.11579	0.019000	0.09904	2.601000	0.46249	1.659000	0.50751	0.462000	0.41574	CGC	MIER2	-	NULL		0.716	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	G	XM_041843		308613	-1	no_errors	ENST00000264819	ensembl	human	known	70_37	missense	SNP	0.005	A
EEF1G	1937	genome.wustl.edu	37	11	62327752	62327752	+	Splice_Site	SNP	A	A	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:62327752A>C	ENST00000329251.4	-	8	1161		c.e8+1		EEF1G_ENST00000378019.3_Splice_Site|MIR3654_ENST00000496634.2_Splice_Site	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACTCTCTTACCAGTGATGA	0.507																																																	0													35.0	32.0	33.0					11																	62327752		1990	4172	6162	SO:0001630	splice_region_variant	100500804			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1030+1T>G	11.37:g.62327752A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Splice_Site	SNP	-	e9+2	ENST00000329251.4	37	c.1578+2	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	a	6.550	0.469704	0.12461	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	5.73	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9602	0.14063	0.4401:0.378:0.1081:0.0739	.	.	.	.	.	-1	.	.	.	-	.	.	EEF1G	62084328	1.000000	0.71417	0.380000	0.26093	0.415000	0.31203	5.007000	0.63984	0.339000	0.23719	-0.334000	0.08254	.	MIR3654	-	-		0.507	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3654	HGNC	protein_coding	OTTHUMT00000395047.1	A	NM_001404	Intron	62327752	-1	no_errors	ENST00000496634	ensembl	human	known	70_37	splice_site	SNP	0.079	C
MT-ATP8	4509	genome.wustl.edu	37	M	8517	8517	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrM:8517G>A	ENST00000361851.1	+	1	152	c.152G>A	c.(151-153)tGa>tAa	p.*51*	MT-ND4L_ENST00000361335.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA			P03928	ATP8_HUMAN	mitochondrially encoded ATP synthase 8	51					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)										TAACAAACCCTGAGAACCAAA	0.408																																																	0																																										SO:0001819	synonymous_variant	4509					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000228253	ENSG00000228253		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7415	protein-coding gene	gene with protein product		516070	"""ATP synthase 8"""	MTATP8			Standard			Approved	ATP8, A6L		P03928		ENST00000361851.1:c.152G>A	M.37:g.8517G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34771	Nonsense_Mutation	SNP	pfam_ATPase_F0-cplx_su8_mt_metazoan	p.W51*	ENST00000361851.1	37	c.152		MT																																																																																			MT-ATP8	-	pfam_ATPase_F0-cplx_su8_mt_metazoan		0.408	MT-ATP8-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP8	HGNC	protein_coding		G	YP_003024030		8517	+1	no_errors	ENST00000361851	ensembl	human	known	70_37	nonsense	SNP	NULL	A
MUC12	10071	genome.wustl.edu	37	7	100641744	100641744	+	Missense_Mutation	SNP	C	C	T	rs200229903	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:100641744C>T	ENST00000379442.3	+	5	8329	c.8329C>T	c.(8329-8331)Cgc>Tgc	p.R2777C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2634C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2777	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACAACCTCACGCATCAGTCC	0.512																																																	0													1.0	1.0	1.0					7																	100641744		260	658	918	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8329C>T	7.37:g.100641744C>T	ENSP00000368755:p.Arg2777Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2777C	ENST00000379442.3	37	c.8329		7	.	.	.	.	.	.	.	.	.	.	c	4.609	0.113111	0.08831	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.704	-1.11	0.09840	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36792	-0.9733	6	0.49607	T	0.09	.	.	.	.	.	.	.	.	C	2777;2634	ENSP00000368755:R2777C;ENSP00000441929:R2634C	ENSP00000368755:R2777C	R	+	1	0	MUC12	100428464	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.334000	0.33827	-0.301000	0.08882	0.173000	0.16961	CGC	MUC12	-	NULL		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100641744	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195507794	195507794	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:195507794G>C	ENST00000463781.3	-	2	11116	c.10657C>G	c.(10657-10659)Ctt>Gtt	p.L3553V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3553V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGTG	0.592																																																	0													26.0	22.0	23.0					3																	195507794		657	1576	2233	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10657C>G	3.37:g.195507794G>C	ENSP00000417498:p.Leu3553Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L3553V	ENST00000463781.3	37	c.10657	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.650	0.120874	0.08881	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.41;1.41	0.743	-1.49	0.08718	.	0.000000	0.23012	U	0.052950	T	0.12646	0.0307	N	0.19112	0.55	0.09310	N	1	P	0.37985	0.613	B	0.35899	0.213	T	0.12863	-1.0531	9	.	.	.	.	2.1531	0.03805	0.0:0.3256:0.3506:0.3237	.	3425	E7ESK3	.	V	3553	ENSP00000417498:L3553V;ENSP00000420243:L3553V	.	L	-	1	0	MUC4	196992573	0.000000	0.05858	0.036000	0.18154	0.037000	0.13140	-4.515000	0.00222	0.088000	0.17205	0.089000	0.15464	CTT	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195507794	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	C
MYH8	4626	genome.wustl.edu	37	17	10317337	10317337	+	Silent	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:10317337G>T	ENST00000403437.2	-	12	1123	c.1029C>A	c.(1027-1029)ggC>ggA	p.G343G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	343	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGGAGTGAAGCCCAGGATGT	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													101.0	98.0	99.0					17																	10317337		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1029C>A	17.37:g.10317337G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G343	ENST00000403437.2	37	c.1029	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.423	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10317337	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	0.961	T
NIPAL1	152519	genome.wustl.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:48037979G>T	ENST00000295461.5	+	6	1089	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																																	0													167.0	152.0	157.0					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>T	4.37:g.48037979G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.L341	ENST00000295461.5	37	c.1023	CCDS3479.1	4																																																																																			NIPAL1	-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037979	+1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	1.000	T
NKX2-2	4821	genome.wustl.edu	37	20	21494232	21494232	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:21494232C>T	ENST00000377142.4	-	1	432	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	26					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCACAGAGCCCTCCTCATCG	0.627																																																	0													51.0	50.0	50.0					20																	21494232		2203	4300	6503	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.76G>A	20.37:g.21494232C>T	ENSP00000366347:p.Gly26Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G26S	ENST00000377142.4	37	c.76	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696650	0.68386	.	.	ENSG00000125820	ENST00000377142	D	0.91068	-2.78	4.75	3.79	0.43588	.	0.171655	0.38217	N	0.001772	D	0.85575	0.5728	L	0.53249	1.67	0.58432	D	0.999992	B	0.09022	0.002	B	0.08055	0.003	T	0.76948	-0.2770	10	0.02654	T	1	.	13.8224	0.63331	0.1545:0.8455:0.0:0.0	.	26	O95096	NKX22_HUMAN	S	26	ENSP00000366347:G26S	ENSP00000366347:G26S	G	-	1	0	NKX2-2	21442232	1.000000	0.71417	0.963000	0.40424	0.992000	0.81027	5.648000	0.67930	0.967000	0.38186	0.563000	0.77884	GGC	NKX2-2	-	NULL		0.627	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	C			21494232	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	missense	SNP	0.995	T
NPC1L1	29881	genome.wustl.edu	37	7	44575553	44575553	+	Silent	SNP	G	G	A	rs149711685		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:44575553G>A	ENST00000289547.4	-	5	1924	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D	NPC1L1_ENST00000381160.3_Silent_p.D623D|NPC1L1_ENST00000546276.1_Silent_p.D623D|NPC1L1_ENST00000423141.1_Silent_p.D623D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	623					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GATTGATCTCGTCTTCCAGAG	0.567																																																	0								G	,	1,4405		0,1,2202	116.0	98.0	104.0		1869,1869	-5.4	0.9	7	dbSNP_134	104	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	623/1333,623/1360	44575553	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1869C>T	7.37:g.44575553G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.D623	ENST00000289547.4	37	c.1869	CCDS5491.1	7																																																																																			NPC1L1	-	pfam_Patched		0.567	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44575553	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	silent	SNP	0.978	A
NUP205	23165	genome.wustl.edu	37	7	135330313	135330313	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:135330313G>A	ENST00000285968.6	+	41	5807	c.5781G>A	c.(5779-5781)tcG>tcA	p.S1927S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1927					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1927S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTTGCCTCGAGAACCTTGT	0.378											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	lung(1)											140.0	136.0	137.0					7																	135330313		2202	4300	6502	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5781G>A	7.37:g.135330313G>A		Somatic	1617	WXS	Illumina HiSeq	Phase_IV	A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.S1927	ENST00000285968.6	37	c.5781	CCDS34759.1	7																																																																																			NUP205	-	NULL		0.378	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135330313	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.995	A
PARD3B	117583	genome.wustl.edu	37	2	206265774	206265774	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:206265774G>A	ENST00000406610.2	+	19	2875	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K	PARD3B_ENST00000351153.1_Missense_Mutation_p.E821K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E828K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E890K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	890	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGAAAGGCTGAGCAGAAAGG	0.438																																																	0													95.0	93.0	94.0					2																	206265774		1894	4125	6019	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2668G>A	2.37:g.206265774G>A	ENSP00000385848:p.Glu890Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E890K	ENST00000406610.2	37	c.2668		2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631433	0.28978	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.45	5.45	0.79879	.	0.510435	0.20733	N	0.086671	T	0.25717	0.0626	L	0.43152	1.355	0.30420	N	0.778255	B;B;B;B	0.32245	0.361;0.079;0.066;0.13	B;B;B;B	0.24701	0.039;0.025;0.036;0.055	T	0.11941	-1.0567	10	0.13853	T	0.58	.	17.4265	0.87527	0.0:0.0:1.0:0.0	.	890;821;828;890	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	K	890;828;821;890	ENSP00000385848:E890K;ENSP00000351618:E828K;ENSP00000317261:E821K;ENSP00000340280:E890K	ENSP00000340280:E890K	E	+	1	0	PARD3B	205974019	0.997000	0.39634	0.924000	0.36721	0.466000	0.32739	5.920000	0.70017	2.705000	0.92388	0.655000	0.94253	GAG	PARD3B	-	NULL		0.438	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206265774	+1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	0.964	A
PCDHB16	57717	genome.wustl.edu	37	5	140562422	140562422	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:140562422C>T	ENST00000361016.2	+	1	1443	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCTATGCGGTCCCACTG	0.438																																																	0													57.0	59.0	58.0					5																	140562422		2203	4300	6503	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.288C>T	5.37:g.140562422C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C96	ENST00000361016.2	37	c.288	CCDS4251.1	5																																																																																			PCDHB16	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.438	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	C	NM_020957		140562422	+1	no_errors	ENST00000361016	ensembl	human	known	70_37	silent	SNP	0.212	T
PCDHGA11	56105	genome.wustl.edu	37	5	140801036	140801036	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:140801036G>A	ENST00000398587.2	+	1	275	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R81Q|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATCCGCGAAGCGGCAGC	0.577																																																	0													41.0	50.0	47.0					5																	140801036		2157	4288	6445	SO:0001583	missense	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.242G>A	5.37:g.140801036G>A	ENSP00000381589:p.Arg81Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R81Q	ENST00000398587.2	37	c.242	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	11.57	1.678652	0.29783	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.26810	1.71;1.71	5.93	4.12	0.48240	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.28901	U	0.013773	T	0.18593	0.0446	L	0.41710	1.295	0.09310	N	0.999999	P;P;P	0.45902	0.525;0.868;0.812	B;B;B	0.40864	0.124;0.329;0.342	T	0.13764	-1.0497	10	0.44086	T	0.13	.	4.8548	0.13554	0.2479:0.2986:0.4535:0.0	.	81;81;81	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	Q	81	ENSP00000381589:R81Q;ENSP00000428333:R81Q	ENSP00000381589:R81Q	R	+	2	0	PCDHGA11	140781220	0.000000	0.05858	1.000000	0.80357	0.736000	0.42039	0.075000	0.14686	0.807000	0.34208	0.591000	0.81541	CGA	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	G	NM_018914		140801036	+1	no_errors	ENST00000398587	ensembl	human	known	70_37	missense	SNP	0.391	A
PEX6	5190	genome.wustl.edu	37	6	42942701	42942701	+	Missense_Mutation	SNP	C	C	G	rs371018106		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:42942701C>G	ENST00000304611.8	-	2	1027	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	PEX6_ENST00000244546.4_Missense_Mutation_p.E320Q	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	320					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ATGTGTAACTCTCTGGCAAAT	0.473																																																	0													188.0	179.0	182.0					6																	42942701		2203	4300	6503	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.958G>C	6.37:g.42942701C>G	ENSP00000303511:p.Glu320Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E320Q	ENST00000304611.8	37	c.958	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976258	0.92982	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.79352	-1.26;-1.26	5.99	5.99	0.97316	.	0.048627	0.85682	D	0.000000	T	0.68604	0.3019	M	0.63843	1.955	0.52099	D	0.999948	P	0.36733	0.567	B	0.33196	0.159	T	0.74390	-0.3681	10	0.66056	D	0.02	-30.1108	17.3945	0.87441	0.0:1.0:0.0:0.0	.	320	Q13608	PEX6_HUMAN	Q	320	ENSP00000303511:E320Q;ENSP00000244546:E320Q	ENSP00000244546:E320Q	E	-	1	0	PEX6	43050679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.840000	0.97914	0.655000	0.94253	GAG	PEX6	-	NULL		0.473	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42942701	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	1.000	G
PLIN4	729359	genome.wustl.edu	37	19	4504605	4504605	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:4504605C>T	ENST00000301286.3	-	6	3939	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1314						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCAGCCGCTCTGCGGGCAGC	0.687																																																	0													8.0	10.0	10.0					19																	4504605		1931	4084	6015	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3940G>A	19.37:g.4504605C>T	ENSP00000301286:p.Glu1314Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.E1314K	ENST00000301286.3	37	c.3940	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.208963	0.06140	.	.	ENSG00000167676	ENST00000301286	T	0.05786	3.39	4.63	2.06	0.26882	.	0.851711	0.09969	N	0.732440	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	B	0.22080	0.064	B	0.15484	0.013	T	0.42015	-0.9476	10	0.28530	T	0.3	-36.8217	6.9193	0.24378	0.0:0.6962:0.0:0.3038	.	1314	Q96Q06	PLIN4_HUMAN	K	1314	ENSP00000301286:E1314K	ENSP00000301286:E1314K	E	-	1	0	PLIN4	4455605	0.004000	0.15560	0.005000	0.12908	0.024000	0.10985	1.987000	0.40687	0.965000	0.38133	0.456000	0.33151	GAG	PLIN4	-	pfam_Perilipin		0.687	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4504605	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	T
PNPLA6	10908	genome.wustl.edu	37	19	7606555	7606555	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:7606555C>T	ENST00000221249.6	+	12	1467	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	PNPLA6_ENST00000545201.2_Silent_p.L346L|PNPLA6_ENST00000600737.1_Silent_p.L385L|PNPLA6_ENST00000450331.3_Silent_p.L346L|PNPLA6_ENST00000414982.3_Silent_p.L394L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	385					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGGGGCCCCGCTGCCTGGACC	0.672																																																	0													4.0	6.0	5.0					19																	7606555		2074	4136	6210	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1036C>T	19.37:g.7606555C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L394	ENST00000221249.6	37	c.1180	CCDS32891.1	19																																																																																			PNPLA6	-	NULL		0.672	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	C	NM_006702		7606555	+1	no_errors	ENST00000414982	ensembl	human	known	70_37	silent	SNP	0.958	T
PNPLA8	50640	genome.wustl.edu	37	7	108154978	108154978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:108154978G>A	ENST00000422087.1	-	4	1364	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	PNPLA8_ENST00000257694.8_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000436062.1_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000426128.2_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000388728.5_Nonsense_Mutation_p.Q320*|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Nonsense_Mutation_p.Q220*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	320					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTTCTGACTGACTCTTTGAA	0.423																																																	0													111.0	111.0	111.0					7																	108154978		2203	4300	6503	SO:0001587	stop_gained	50640			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.958C>T	7.37:g.108154978G>A	ENSP00000410804:p.Gln320*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Nonsense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.Q320*	ENST00000422087.1	37	c.958	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.162111	0.97338	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	.	.	.	4.5	3.59	0.41128	.	0.859098	0.10445	N	0.673760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.5597	0.45138	0.0:0.0:0.5325:0.4675	.	.	.	.	X	320;320;320;320;220;320;220	.	ENSP00000257694:Q320X	Q	-	1	0	PNPLA8	107942214	0.846000	0.29590	0.749000	0.31150	0.673000	0.39480	1.898000	0.39809	1.206000	0.43276	0.591000	0.81541	CAG	PNPLA8	-	NULL		0.423	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	G	NM_015723		108154978	-1	no_errors	ENST00000257694	ensembl	human	known	70_37	nonsense	SNP	0.366	A
POLD1	5424	genome.wustl.edu	37	19	50906837	50906837	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:50906837C>T	ENST00000440232.2	+	10	1278	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	POLD1_ENST00000595904.1_Missense_Mutation_p.R409W|POLD1_ENST00000599857.1_Missense_Mutation_p.R409W	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	409					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTCATCTCTCGGGCCCAGAC	0.637								DNA polymerases (catalytic subunits)																																									0													143.0	130.0	134.0					19																	50906837		2203	4300	6503	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1225C>T	19.37:g.50906837C>T	ENSP00000406046:p.Arg409Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R409W	ENST00000440232.2	37	c.1225	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582814	0.65992	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.38077	1.16	3.84	0.0544	0.14311	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.059954	0.64402	N	0.000007	T	0.61850	0.2380	M	0.93375	3.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62666	-0.6806	10	0.87932	D	0	-27.9098	6.1912	0.20526	0.4164:0.486:0.0:0.0976	.	409;409	E7EVW0;P28340	.;DPOD1_HUMAN	W	409;410	ENSP00000406046:R409W	ENSP00000366129:R410W	R	+	1	2	POLD1	55598649	0.999000	0.42202	0.986000	0.45419	0.996000	0.88848	1.115000	0.31209	0.364000	0.24374	0.561000	0.74099	CGG	POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.637	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	C			50906837	+1	no_errors	ENST00000440232	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRC2C	23215	genome.wustl.edu	37	1	171509483	171509483	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:171509483G>C	ENST00000338920.4	+	16	3109	c.2872G>C	c.(2872-2874)Gaa>Caa	p.E958Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E960Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E958Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E960Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	958					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGATTCAAAAGAACCAATAGA	0.393																																																	0													34.0	32.0	33.0					1																	171509483		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2872G>C	1.37:g.171509483G>C	ENSP00000343629:p.Glu958Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E960Q	ENST00000338920.4	37	c.2878	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281521	0.23392	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.94	5.94	0.96194	.	0.000000	0.48286	D	0.000188	T	0.11110	0.0271	L	0.34521	1.04	0.49582	D	0.999803	D	0.67145	0.996	P	0.62298	0.9	T	0.01819	-1.1267	10	0.56958	D	0.05	.	15.1871	0.73012	0.0:0.0:0.8592:0.1408	.	958	Q9Y520-4	.	Q	960;959;958;960;958;715;717	ENSP00000375928:E960Q;ENSP00000410219:E958Q;ENSP00000356716:E960Q;ENSP00000343629:E958Q	ENSP00000343629:E958Q	E	+	1	0	PRRC2C	169776107	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	5.666000	0.68059	2.831000	0.97527	0.644000	0.83932	GAA	PRRC2C	-	NULL		0.393	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	G	NM_015172		171509483	+1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRC	5788	genome.wustl.edu	37	1	198701657	198701657	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:198701657C>G	ENST00000367376.2	+	20	2279	c.2108C>G	c.(2107-2109)tCa>tGa	p.S703*	PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S705*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S655*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S542*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S544*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	703	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATGCAGGGTCAAACTACATA	0.313																																																	0													81.0	78.0	79.0					1																	198701657		2202	4300	6502	SO:0001587	stop_gained	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2108C>G	1.37:g.198701657C>G	ENSP00000356346:p.Ser703*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S705*	ENST00000367376.2	37	c.2114		1	.	.	.	.	.	.	.	.	.	.	C	37	6.041812	0.97231	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.82	5.82	0.92795	.	0.000000	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2818	0.90101	0.0:1.0:0.0:0.0	.	.	.	.	X	705;639;655;655;589;703;637;542	.	ENSP00000306782:S542X	S	+	2	0	PTPRC	196968280	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.917000	0.56424	2.748000	0.94277	0.655000	0.94253	TCA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198701657	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PTPRJ	5795	genome.wustl.edu	37	11	48149588	48149588	+	Silent	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr11:48149588G>T	ENST00000418331.2	+	7	1702	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PTPRJ_ENST00000440289.2_Silent_p.V450V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	450	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCTCCAAGTGCACACCCGTG	0.592																																																	0													94.0	82.0	86.0					11																	48149588		2201	4298	6499	SO:0001819	synonymous_variant	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1350G>T	11.37:g.48149588G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt	p.V450	ENST00000418331.2	37	c.1350	CCDS7945.1	11																																																																																			PTPRJ	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	G			48149588	+1	no_errors	ENST00000418331	ensembl	human	known	70_37	silent	SNP	0.952	T
PTPRT	11122	genome.wustl.edu	37	20	41385239	41385239	+	Missense_Mutation	SNP	C	C	T	rs377294483		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:41385239C>T	ENST00000373187.1	-	6	721	c.722G>A	c.(721-723)cGt>cAt	p.R241H	PTPRT_ENST00000373184.1_Missense_Mutation_p.R241H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R241H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R241H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R241H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R241H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R241H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	241	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTGACCACACGGGTGACCAT	0.582																																																	0								C	HIS/ARG,HIS/ARG	1,4115		0,1,2057	43.0	44.0	44.0		722,722	5.8	1.0	20		44	0,8390		0,0,4195	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	29,29	0,1,6252	TT,TC,CC		0.0,0.0243,0.0080	probably-damaging,probably-damaging	241/1442,241/1461	41385239	1,12505	2058	4195	6253	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.722G>A	20.37:g.41385239C>T	ENSP00000362283:p.Arg241His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R241H	ENST00000373187.1	37	c.722	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.235299	0.95207	2.43E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.76494	0.999;0.998	D;P	0.65773	0.938;0.791	T	0.40308	-0.9570	10	0.87932	D	0	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	241;241	O14522-1;O14522	.;PTPRT_HUMAN	H	241	ENSP00000362286:R241H;ENSP00000362283:R241H;ENSP00000362289:R241H;ENSP00000348408:R241H;ENSP00000362294:R241H;ENSP00000362280:R241H;ENSP00000362297:R241H	ENSP00000348408:R241H	R	-	2	0	PTPRT	40818653	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	5.785000	0.68998	2.720000	0.93068	0.655000	0.94253	CGT	PTPRT	-	pfscan_Ig-like		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41385239	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.998	T
QRICH2	84074	genome.wustl.edu	37	17	74287142	74287142	+	Silent	SNP	G	G	A	rs370721550		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:74287142G>A	ENST00000262765.5	-	4	3347	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1056										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CGGTTTGGCCGGCCTGCTCCT	0.532																																																	0								G		0,4406		0,0,2203	108.0	102.0	104.0		3168	-7.1	0.0	17		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QRICH2	NM_032134.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1056/1664	74287142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3168C>T	17.37:g.74287142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRE1|Q96LM3	Silent	SNP	NULL	p.A1056	ENST00000262765.5	37	c.3168	CCDS32741.1	17																																																																																			QRICH2	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74287142	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	silent	SNP	0.011	A
RABGGTB	5876	genome.wustl.edu	37	1	76255553	76255553	+	Intron	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:76255553C>A	ENST00000319942.3	+	4	380				SNORD45A_ENST00000384512.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Intron|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000370826.3_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AAAGGATGTGCTTGACAACTT	0.308																																																	0																																										SO:0001627	intron_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.310-84C>A	1.37:g.76255553C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-		0.308	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	C	NM_004582		76255553	+1	no_errors	ENST00000461653	ensembl	human	known	70_37	rna	SNP	0.001	A
RALYL	138046	genome.wustl.edu	37	8	85441636	85441636	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:85441636A>G	ENST00000521268.1	+	2	1185	c.80A>G	c.(79-81)aAt>aGt	p.N27S	RALYL_ENST00000518566.1_Missense_Mutation_p.N27S|RALYL_ENST00000517638.1_Missense_Mutation_p.N40S|RALYL_ENST00000521695.1_Missense_Mutation_p.N27S|RALYL_ENST00000522455.1_Missense_Mutation_p.N27S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTCATCGGCAATCTAAATACG	0.398																																																	0													67.0	69.0	68.0					8																	85441636		1999	4186	6185	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.80A>G	8.37:g.85441636A>G	ENSP00000430367:p.Asn27Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.N27S	ENST00000521268.1	37	c.80	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145316	0.77888	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	T;T;T;T;T;T;T;T	0.56776	1.66;1.66;1.66;1.66;1.66;1.66;1.66;0.44	5.26	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.170233	0.49305	D	0.000147	T	0.71829	0.3386	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.992;0.987;0.996	T	0.74833	-0.3530	10	0.87932	D	0	.	11.7038	0.51585	0.8673:0.0:0.0:0.1327	.	27;40;27	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	S	27;27;27;27;27;27;40;27	ENSP00000427787:N27S;ENSP00000430394:N27S;ENSP00000428667:N27S;ENSP00000430367:N27S;ENSP00000430065:N27S;ENSP00000428711:N27S;ENSP00000430128:N40S;ENSP00000429284:N27S	ENSP00000430128:N40S	N	+	2	0	RALYL	85604191	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	9.286000	0.95898	0.924000	0.37069	0.456000	0.33151	AAT	RALYL	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.398	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	A			85441636	+1	no_errors	ENST00000521268	ensembl	human	known	70_37	missense	SNP	1.000	G
RARG	5916	genome.wustl.edu	37	12	53607872	53607872	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:53607872G>C	ENST00000425354.2	-	7	1271	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	RARG_ENST00000394426.1_Missense_Mutation_p.L262V|RARG_ENST00000338561.5_Missense_Mutation_p.L251V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.L240V|RARG_ENST00000327550.3_Missense_Mutation_p.L190V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	262	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTTTGAGCAGAGTGATCTGG	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													204.0	200.0	201.0					12																	53607872		2203	4300	6503	SO:0001583	missense	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.784C>G	12.37:g.53607872G>C	ENSP00000388510:p.Leu262Val	Somatic	993	WXS	Illumina HiSeq	Phase_IV	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L262V	ENST00000425354.2	37	c.784	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460671	0.63513	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.37	4.48	0.54585	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.88093	0.6344	H	0.95187	3.635	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;0.979;0.999;1.0	D;D;D;D	0.97110	0.998;0.977;0.997;1.0	D	0.91138	0.4943	10	0.87932	D	0	.	13.2549	0.60073	0.0786:0.0:0.9214:0.0	.	299;240;262;251	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	V	262;262;24;190;251;240;299	ENSP00000388510:L262V;ENSP00000377947:L262V;ENSP00000332695:L190V;ENSP00000343698:L251V;ENSP00000444335:L240V	ENSP00000332695:L190V	L	-	1	2	RARG	51894139	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.838000	0.62803	1.404000	0.46819	0.563000	0.77884	CTG	RARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53607872	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM10	8241	genome.wustl.edu	37	X	47040962	47040962	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:47040962C>T	ENST00000377604.3	+	14	2234	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	RBM10_ENST00000329236.7_Missense_Mutation_p.R420C|RBM10_ENST00000345781.6_Missense_Mutation_p.R421C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	498					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCTTTCTCTCGCGCCCAGCC	0.627													C|||	1	0.000264901	0.0	0.0	3775	,	,		12657	0.0		0.001	False		,,,				2504	0.0				Melanoma(171;120 2705 19495 39241)												0													31.0	26.0	28.0					X																	47040962		2203	4298	6501	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1492C>T	X.37:g.47040962C>T	ENSP00000366829:p.Arg498Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R498C	ENST00000377604.3	37	c.1492	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990556	0.54041	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.18502	2.89;2.21;2.47	4.65	4.65	0.58169	.	0.455627	0.23273	N	0.049985	T	0.20007	0.0481	L	0.36672	1.1	0.49483	D	0.999795	D;D;D;D;D	0.64830	0.987;0.975;0.989;0.986;0.994	P;B;P;P;P	0.50270	0.629;0.332;0.533;0.636;0.454	T	0.00731	-1.1590	10	0.38643	T	0.18	-9.8456	11.9741	0.53081	0.0:1.0:0.0:0.0	.	421;563;497;420;498	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	C	498;420;421	ENSP00000366829:R498C;ENSP00000328848:R420C;ENSP00000329659:R421C	ENSP00000328848:R420C	R	+	1	0	RBM10	46925906	0.821000	0.29204	0.944000	0.38274	0.526000	0.34562	2.410000	0.44592	2.312000	0.78011	0.525000	0.51046	CGC	RBM10	-	NULL		0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47040962	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	0.942	T
RGPD3	653489	genome.wustl.edu	37	2	107052631	107052631	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:107052631T>C	ENST00000409886.3	-	12	1793	c.1706A>G	c.(1705-1707)cAt>cGt	p.H569R	RGPD3_ENST00000304514.7_Missense_Mutation_p.H569R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	569					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGAAGGCCATGTTTTTCCTG	0.333																																																	0													3.0	6.0	6.0					2																	107052631		311	899	1210	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1706A>G	2.37:g.107052631T>C	ENSP00000386588:p.His569Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.H569R	ENST00000409886.3	37	c.1706	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142670	0.37825	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	D;D	0.82081	-1.57;-1.57	2.52	1.25	0.21368	.	.	.	.	.	T	0.79417	0.4442	M	0.64997	1.995	0.26157	N	0.98006	B	0.28026	0.198	B	0.31869	0.137	T	0.70539	-0.4844	9	0.66056	D	0.02	-10.426	6.7073	0.23258	0.0:0.0:0.2426:0.7574	.	569	A6NKT7	RGPD3_HUMAN	R	569;327;569	ENSP00000386588:H569R;ENSP00000303659:H569R	ENSP00000303659:H569R	H	-	2	0	RGPD3	106419063	1.000000	0.71417	0.994000	0.49952	0.705000	0.40729	3.890000	0.56220	0.197000	0.20387	0.156000	0.16432	CAT	RGPD3	-	NULL		0.333	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	T	XM_929931		107052631	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	1.000	C
ROBO1	6091	genome.wustl.edu	37	3	78649291	78649291	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:78649291C>G	ENST00000464233.1	-	30	5026	c.4913G>C	c.(4912-4914)aGa>aCa	p.R1638T	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1593T|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1599T|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1538T	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1638					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCTTCTCCTCTTTCATATCC	0.363																																																	0													156.0	145.0	149.0					3																	78649291		1844	4089	5933	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4913G>C	3.37:g.78649291C>G	ENSP00000420321:p.Arg1638Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1638T	ENST00000464233.1	37	c.4913	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830236	0.32329	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60040	0.25;0.22;0.23;0.24	5.61	4.55	0.56014	.	0.266598	0.42294	D	0.000723	T	0.35038	0.0918	N	0.08118	0	0.31743	N	0.635603	B;B;B;B	0.18310	0.016;0.016;0.007;0.027	B;B;B;B	0.18263	0.015;0.009;0.0;0.021	T	0.28427	-1.0044	9	.	.	.	.	13.1584	0.59531	0.0:0.8784:0.0:0.1216	.	1638;1593;1538;1599	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	T	1599;1593;1638;1593;1538;1642	ENSP00000406043:R1599T;ENSP00000420321:R1638T;ENSP00000420637:R1593T;ENSP00000417992:R1538T	.	R	-	2	0	ROBO1	78731981	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.131000	0.31406	2.652000	0.90054	0.555000	0.69702	AGA	ROBO1	-	NULL		0.363	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78649291	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G
ROPN1B	152015	genome.wustl.edu	37	3	125694413	125694413	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:125694413G>A	ENST00000514116.1	+	4	439	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ROPN1B_ENST00000251776.4_Missense_Mutation_p.E42K|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	42	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TAGTTATTTTGAGGCCCTGTC	0.517																																																	0													59.0	59.0	59.0					3																	125694413		2203	4296	6499	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.124G>A	3.37:g.125694413G>A	ENSP00000426271:p.Glu42Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E42K	ENST00000514116.1	37	c.124	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261464	0.10239	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.79247	2.02;2.02;-1.25;-1.25	2.76	2.76	0.32466	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.261461	0.33199	N	0.005173	T	0.53334	0.1790	N	0.08118	0	0.80722	D	1	B;B	0.26935	0.164;0.135	B;B	0.29077	0.098;0.037	T	0.47289	-0.9129	10	0.07644	T	0.81	-40.3675	9.6022	0.39612	0.0:0.0:1.0:0.0	.	42;42	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	K	42	ENSP00000426271:E42K;ENSP00000251776:E42K;ENSP00000425548:E42K;ENSP00000423058:E42K	ENSP00000251776:E42K	E	+	1	0	ROPN1B	127177103	1.000000	0.71417	0.996000	0.52242	0.444000	0.32077	3.651000	0.54431	1.472000	0.48140	0.289000	0.19496	GAG	ROPN1B	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b		0.517	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	G	NM_001012337		125694413	+1	no_errors	ENST00000251776	ensembl	human	known	70_37	missense	SNP	1.000	A
RSPRY1	89970	genome.wustl.edu	37	16	57238640	57238640	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:57238640G>A	ENST00000537866.1	+	2	943	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E24K			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	24						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GTTGACTCTCGAAGAGCACAT	0.493																																																	0													212.0	217.0	215.0					16																	57238640		2198	4300	6498	SO:0001583	missense	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.70G>A	16.37:g.57238640G>A	ENSP00000443176:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E24K	ENST00000537866.1	37	c.70	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936118	0.52972	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85339	-1.97;-1.97	5.02	4.04	0.47022	.	0.747332	0.13198	N	0.406208	T	0.80783	0.4689	L	0.40543	1.245	0.42774	D	0.993843	B;B	0.27117	0.072;0.168	B;B	0.22386	0.039;0.019	T	0.76602	-0.2899	10	0.51188	T	0.08	.	15.5142	0.75809	0.0:0.1389:0.8611:0.0	.	24;24	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	K	24	ENSP00000377942:E24K;ENSP00000443176:E24K	ENSP00000377942:E24K	E	+	1	0	RSPRY1	55796141	1.000000	0.71417	0.964000	0.40570	0.941000	0.58515	4.335000	0.59298	1.205000	0.43262	0.655000	0.94253	GAA	RSPRY1	-	NULL		0.493	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	G	NM_133368		57238640	+1	no_errors	ENST00000394420	ensembl	human	known	70_37	missense	SNP	0.996	A
RYR1	6261	genome.wustl.edu	37	19	38964397	38964397	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:38964397G>C	ENST00000359596.3	+	28	4146	c.4146G>C	c.(4144-4146)aaG>aaC	p.K1382N	RYR1_ENST00000360985.3_Missense_Mutation_p.K1382N|RYR1_ENST00000355481.4_Missense_Mutation_p.K1382N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1382	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCACCGAGAAGAACAAGAAGA	0.667																																																	0													3.0	2.0	3.0					19																	38964397		1499	3018	4517	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4146G>C	19.37:g.38964397G>C	ENSP00000352608:p.Lys1382Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.K1382N	ENST00000359596.3	37	c.4146	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342433	0.41498	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97256	-4.3;-4.31;-4.3	4.75	4.75	0.60458	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000001	D	0.95570	0.8560	M	0.69823	2.125	0.40249	D	0.978049	B;P	0.39326	0.074;0.668	B;B	0.40009	0.02;0.316	D	0.94549	0.7752	10	0.41790	T	0.15	.	9.3678	0.38234	0.1001:0.0:0.8999:0.0	.	1382;1382	P21817-2;P21817	.;RYR1_HUMAN	N	1382	ENSP00000352608:K1382N;ENSP00000347667:K1382N;ENSP00000354254:K1382N	ENSP00000347667:K1382N	K	+	3	2	RYR1	43656237	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.697000	0.47060	2.340000	0.79590	0.448000	0.29417	AAG	RYR1	-	pfscan_B30.2/SPRY		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38964397	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	C
SAP30	8819	genome.wustl.edu	37	4	174292224	174292224	+	3'UTR	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:174292224C>T	ENST00000504618.1	+	0	251				RP11-798M19.6_ENST00000608794.1_RNA|SAP30_ENST00000296504.3_5'UTR|RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA|RP11-798M19.6_ENST00000609900.1_RNA					Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		TTGGCCGTGCCGCTGTCTAAC	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	8819			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000504618.1:c.*248C>T	4.37:g.174292224C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000504618.1	37	NULL		4																																																																																			SAP30	-	-		0.657	SAP30-002	PUTATIVE	basic|exp_conf	processed_transcript	SAP30	HGNC	protein_coding	OTTHUMT00000362361.2	C	NM_003864		174292224	+1	no_errors	ENST00000504618	ensembl	human	putative	70_37	rna	SNP	0.000	T
SCN2A	6326	genome.wustl.edu	37	2	166211085	166211085	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:166211085C>T	ENST00000375437.2	+	17	3593	c.3303C>T	c.(3301-3303)ctC>ctT	p.L1101L	SCN2A_ENST00000375427.2_Silent_p.L1101L|SCN2A_ENST00000283256.6_Silent_p.L1101L|SCN2A_ENST00000357398.3_Silent_p.L1101L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1101					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCCTAGCCTCACTGTGACAG	0.388																																																	0													98.0	98.0	98.0					2																	166211085		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3303C>T	2.37:g.166211085C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1101	ENST00000375437.2	37	c.3303	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Na_trans_assoc		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	C	NM_021007		166211085	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	1.000	T
SDC2	6383	genome.wustl.edu	37	8	97614702	97614702	+	Silent	SNP	A	A	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:97614702A>G	ENST00000302190.4	+	3	1173	c.252A>G	c.(250-252)ccA>ccG	p.P84P	SDC2_ENST00000519914.1_Silent_p.P55P|SDC2_ENST00000522911.1_Silent_p.P55P|SDC2_ENST00000518385.1_Silent_p.P48P	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GTGCTGCTCCAAAAGTGGAAA	0.423																																																	0													166.0	150.0	155.0					8																	97614702		2203	4300	6503	SO:0001819	synonymous_variant	6383			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.252A>G	8.37:g.97614702A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQA3|Q6PIS6|Q9H6V1	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.P84	ENST00000302190.4	37	c.252	CCDS6272.1	8																																																																																			SDC2	-	pfam_Syndecan		0.423	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC2	HGNC	protein_coding	OTTHUMT00000379750.1	A	NM_002998		97614702	+1	no_errors	ENST00000302190	ensembl	human	known	70_37	silent	SNP	0.006	G
SGCE	8910	genome.wustl.edu	37	7	94257516	94257516	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:94257516C>G	ENST00000265735.7	-	3	498	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SGCE_ENST00000445866.2_Missense_Mutation_p.E130Q|SGCE_ENST00000437425.2_Missense_Mutation_p.E89Q|SGCE_ENST00000447873.1_Missense_Mutation_p.E130Q|SGCE_ENST00000428696.2_Missense_Mutation_p.E130Q|SGCE_ENST00000415788.2_Missense_Mutation_p.E166Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	130					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAAATTACCTCAATGATTGTT	0.398																																																	0													75.0	64.0	68.0					7																	94257516		2203	4299	6502	SO:0001583	missense	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.388G>C	7.37:g.94257516C>G	ENSP00000265735:p.Glu130Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.E130Q	ENST00000265735.7	37	c.388	CCDS5637.1	7	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761905	0.89932	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	5.5	5.5	0.81552	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.70595	2.14	0.80722	D	1	P;B;D;D;P	0.59357	0.906;0.43;0.977;0.985;0.659	P;B;D;D;B	0.67900	0.801;0.212;0.954;0.943;0.372	D	0.99848	1.1068	10	0.72032	D	0.01	-20.1314	19.7702	0.96361	0.0:1.0:0.0:0.0	.	166;89;130;130;130	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	Q	130;130;89;130;130;166	ENSP00000265735:E130Q;ENSP00000398930:E130Q;ENSP00000394061:E89Q;ENSP00000388734:E130Q;ENSP00000397536:E130Q;ENSP00000405313:E166Q	ENSP00000265735:E130Q	E	-	1	0	SGCE	94095452	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.351000	0.79395	2.749000	0.94314	0.650000	0.86243	GAG	SGCE	-	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg		0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2	C			94257516	-1	no_errors	ENST00000445866	ensembl	human	known	70_37	missense	SNP	1.000	G
SIGLEC12	89858	genome.wustl.edu	37	19	52001468	52001468	+	Silent	SNP	G	G	A	rs201299127		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:52001468G>A	ENST00000291707.3	-	5	1264	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	SIGLEC12_ENST00000598614.1_Silent_p.V285V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	403	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATTGCTGTCGACAGCACAGA	0.617													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18096	0.0		0.0	False		,,,				2504	0.0																0													44.0	40.0	42.0					19																	52001468		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1209C>T	19.37:g.52001468G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V403	ENST00000291707.3	37	c.1209	CCDS12833.1	19																																																																																			SIGLEC12	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.617	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52001468	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.003	A
SIPA1L1	26037	genome.wustl.edu	37	14	72196849	72196849	+	Silent	SNP	G	G	A	rs141905323		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:72196849G>A	ENST00000555818.1	+	18	5103	c.4755G>A	c.(4753-4755)tcG>tcA	p.S1585S	SIPA1L1_ENST00000381232.3_Silent_p.S1564S|SIPA1L1_ENST00000537413.1_Silent_p.S1039S|SIPA1L1_ENST00000358550.2_Silent_p.S1564S|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1585					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACACTGTCGGACGAGAGCA	0.557																																																	0								G		0,4406		0,0,2203	95.0	83.0	87.0		4755	-6.4	0.8	14	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1585/1805	72196849	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4755G>A	14.37:g.72196849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S1585	ENST00000555818.1	37	c.4755	CCDS9807.1	14																																																																																			SIPA1L1	-	pfam_DUF3401		0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72196849	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	0.781	A
SLC13A1	6561	genome.wustl.edu	37	7	122774466	122774466	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr7:122774466G>A	ENST00000194130.2	-	8	969	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	310					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACTTACTTGAATCCTAGGA	0.423																																																	0													94.0	85.0	88.0					7																	122774466		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.930C>T	7.37:g.122774466G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5Z0	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.F310	ENST00000194130.2	37	c.930	CCDS5786.1	7																																																																																			SLC13A1	-	pfam_Na/sul_symport		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	G	NM_022444		122774466	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC36A2	153201	genome.wustl.edu	37	5	150696640	150696640	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:150696640G>A	ENST00000335244.4	-	10	1319	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A121V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	397					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GATGAGGATGGCCAGGAGGCC	0.602																																																	0													41.0	40.0	40.0					5																	150696640		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1190C>T	5.37:g.150696640G>A	ENSP00000334223:p.Ala397Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A397V	ENST00000335244.4	37	c.1190	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999461	0.74818	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.05996	3.36;3.36	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	H	0.95539	3.685	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.56902	-0.7902	10	0.87932	D	0	-35.5306	18.3905	0.90481	0.0:0.0:1.0:0.0	.	397	Q495M3	S36A2_HUMAN	V	397;121	ENSP00000334223:A397V;ENSP00000399479:A121V	ENSP00000334223:A397V	A	-	2	0	SLC36A2	150676833	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	6.103000	0.71492	2.643000	0.89663	0.557000	0.71058	GCC	SLC36A2	-	pfam_AA_transpt_TM		0.602	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	G			150696640	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC5A9	200010	genome.wustl.edu	37	1	48713406	48713406	+	3'UTR	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:48713406C>G	ENST00000438567.2	+	0	2289				SLC5A9_ENST00000236495.5_3'UTR|SLC5A9_ENST00000471020.1_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						agagagagcactgggtttgtt	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.*191C>G	1.37:g.48713406C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	RNA	SNP	-	NULL	ENST00000438567.2	37	NULL	CCDS30709.2	1																																																																																			SLC5A9	-	-		0.498	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	C	XM_117174		48713406	+1	no_errors	ENST00000471020	ensembl	human	known	70_37	rna	SNP	0.000	G
SMG1	23049	genome.wustl.edu	37	16	18826564	18826564	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:18826564G>A	ENST00000446231.2	-	60	10966	c.10554C>T	c.(10552-10554)gtC>gtT	p.V3518V	SMG1_ENST00000389467.3_Silent_p.V3519V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3518					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCATCGGTGACTAAGGGTG	0.363																																																	0													43.0	41.0	42.0					16																	18826564		1905	4134	6039	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10554C>T	16.37:g.18826564G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V3519	ENST00000446231.2	37	c.10557	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.363	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18826564	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25440072	25440072	+	RNA	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr15:25440072C>T	ENST00000424208.1	+	0	1460				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGTTGGGTCGATGATGAGA	0.522																																																	0													285.0	292.0	290.0					15																	25440072		876	1991	2867			100033451					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25440072C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-14	-	-		0.522	SNHG14-002	KNOWN	basic	antisense	SNORD115-14	HGNC	processed_transcript	OTTHUMT00000126729.2	C			25440072	+1	no_errors	ENST00000363090	ensembl	human	known	70_37	rna	SNP	0.132	T
SOX12	6666	genome.wustl.edu	37	20	306784	306784	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:306784G>C	ENST00000342665.2	+	1	546	c.216G>C	c.(214-216)aaG>aaC	p.K72N	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.K72N	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	72					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AGATCTCCAAGCGCCTGGGCC	0.642																																																	0													28.0	26.0	26.0					20																	306784		2200	4297	6497	SO:0001583	missense	6666			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.216G>C	20.37:g.306784G>C	ENSP00000347646:p.Lys72Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5D038|Q9NUD4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.K72N	ENST00000342665.2	37	c.216	CCDS12995.1	20	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587255	0.66105	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.98762	-5.12;-5.12	3.63	2.67	0.31697	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.156238	0.25114	U	0.033033	D	0.99083	0.9685	H	0.98559	4.265	0.50171	D	0.999856	D	0.58620	0.983	P	0.52343	0.696	D	0.98748	1.0719	10	0.87932	D	0	.	8.718	0.34423	0.118:0.0:0.882:0.0	.	72	O15370	SOX12_HUMAN	N	72	ENSP00000441671:K72N;ENSP00000347646:K72N	ENSP00000347646:K72N	K	+	3	2	SOX12	254784	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.886000	0.75611	0.719000	0.32188	0.313000	0.20887	AAG	SOX12	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.642	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	HGNC	protein_coding	OTTHUMT00000077435.2	G	NM_006943		306784	+1	no_errors	ENST00000342665	ensembl	human	known	70_37	missense	SNP	1.000	C
SPOCD1	90853	genome.wustl.edu	37	1	32279571	32279571	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:32279571G>T	ENST00000360482.2	-	2	1493	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.P455Q|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P455Q	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	455					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCCTCCTGGGCTGGGTTC	0.542																																																	0													75.0	79.0	78.0					1																	32279571		2203	4300	6503	SO:0001583	missense	90853			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1364C>A	1.37:g.32279571G>T	ENSP00000353670:p.Pro455Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.P455Q	ENST00000360482.2	37	c.1364	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706662	0.15239	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.39229	1.89;1.09;1.9	3.62	0.516	0.17019	.	.	.	.	.	T	0.24928	0.0605	N	0.19112	0.55	0.09310	N	1	P;B	0.35656	0.514;0.38	B;B	0.34873	0.191;0.093	T	0.15954	-1.0419	9	0.87932	D	0	0.5317	5.2163	0.15344	0.2061:0.0:0.6309:0.163	.	455;455	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	Q	455	ENSP00000353670:P455Q;ENSP00000362752:P455Q;ENSP00000435851:P455Q	ENSP00000353670:P455Q	P	-	2	0	SPOCD1	32052158	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.546000	0.23284	-0.108000	0.12066	-1.644000	0.00765	CCA	SPOCD1	-	NULL		0.542	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	G	NM_144569		32279571	-1	no_errors	ENST00000360482	ensembl	human	known	70_37	missense	SNP	0.000	T
SPTA1	6708	genome.wustl.edu	37	1	158627368	158627368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:158627368G>A	ENST00000368147.4	-	19	2884	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	902					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTACTGCTGGAACTGGACA	0.473																																																	0													179.0	177.0	177.0					1																	158627368		2009	4198	6207	SO:0001587	stop_gained	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2704C>T	1.37:g.158627368G>A	ENSP00000357129:p.Gln902*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q902*	ENST00000368147.4	37	c.2704	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.669935	0.99234	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	4.67	0.58626	.	0.000000	0.30771	N	0.008911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.6566	0.85230	0.0:0.0:1.0:0.0	.	.	.	.	X	902	.	ENSP00000357129:Q902X	Q	-	1	0	SPTA1	156893992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.424000	0.90267	2.573000	0.86826	0.655000	0.94253	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158627368	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SPTBN4	57731	genome.wustl.edu	37	19	41030459	41030459	+	Intron	SNP	T	T	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:41030459T>G	ENST00000352632.3	+	17	3943				SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000595535.1_Intron|SPTBN4_ENST00000344104.3_Missense_Mutation_p.I1289S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.H3Q|SPTBN4_ENST00000598249.1_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGCCTCATTATccatcct	0.512																																																	0																																										SO:0001627	intron_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3857+913T>G	19.37:g.41030459T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.I1289S	ENST00000352632.3	37	c.3866	CCDS12559.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.291|3.291	-0.144868|-0.144868	0.06627|0.06627	.|.	.|.	ENSG00000160460|ENSG00000160460	ENST00000392025|ENST00000344104	T|T	0.57273|0.77877	0.41|-1.13	1.58|1.58	-1.15|-1.15	0.09709|0.09709	.|.	.|.	.|.	.|.	.|.	T|T	0.55705|0.55705	0.1937|0.1937	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.40365|0.40365	-0.9567|-0.9567	8|6	0.87932|0.16420	D|T	0|0.52	.|.	3.3535|3.3535	0.07160|0.07160	0.0:0.2527:0.3951:0.3521|0.0:0.2527:0.3951:0.3521	.|.	3|.	C9JY79|.	.|.	Q|S	3|1289	ENSP00000375879:H3Q|ENSP00000340741:I1289S	ENSP00000375879:H3Q|ENSP00000340741:I1289S	H|I	+|+	3|2	2|0	SPTBN4|SPTBN4	45722299|45722299	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.865000|-0.865000	0.04250|0.04250	-0.252000|-0.252000	0.09528|0.09528	0.321000|0.321000	0.21382|0.21382	CAT|ATT	SPTBN4	-	smart_Spectrin/alpha-actinin		0.512	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	T			41030459	+1	no_errors	ENST00000344104	ensembl	human	known	70_37	missense	SNP	0.000	G
SRCAP	10847	genome.wustl.edu	37	16	30718640	30718640	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:30718640C>T	ENST00000262518.4	+	5	828	c.443C>T	c.(442-444)tCt>tTt	p.S148F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S148F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S148F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	148	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGTGGCTCTCTGCTGACTTT	0.567																																																	0													85.0	84.0	85.0					16																	30718640		2017	4169	6186	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.443C>T	16.37:g.30718640C>T	ENSP00000262518:p.Ser148Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S148F	ENST00000262518.4	37	c.443	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128598	0.56721	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92149	-2.98;-2.95;-2.93	5.29	5.29	0.74685	Helicase/SANT-associated, DNA binding (1);HSA (1);	0.000000	0.51477	D	0.000094	D	0.95799	0.8633	M	0.76838	2.35	0.58432	D	0.999997	D;D	0.69078	0.996;0.997	P;D	0.67548	0.885;0.952	D	0.95990	0.8985	10	0.87932	D	0	-14.5061	17.8681	0.88801	0.0:1.0:0.0:0.0	.	148;148	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	148	ENSP00000262518:S148F;ENSP00000378499:S148F;ENSP00000343042:S148F	ENSP00000262518:S148F	S	+	2	0	SRCAP	30626141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.756000	0.94617	0.561000	0.74099	TCT	SRCAP	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30718640	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T
SRPK3	26576	genome.wustl.edu	37	X	153050593	153050593	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:153050593C>T	ENST00000370101.3	+	14	1530	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	SRPK3_ENST00000370100.1_Missense_Mutation_p.S420L|SRPK3_ENST00000370104.1_Missense_Mutation_p.S494L|SRPK3_ENST00000489426.1_Missense_Mutation_p.S562L|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370108.3_Missense_Mutation_p.S462L|SRPK3_ENST00000393786.3_Missense_Mutation_p.S461L	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCGCCCTCTCAGGCCGCTAT	0.657																																					Esophageal Squamous(167;766 3400 32156)												0													36.0	34.0	35.0					X																	153050593		2198	4299	6497	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1484C>T	X.37:g.153050593C>T	ENSP00000359119:p.Ser495Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13583|Q4F970|Q562F5|Q9UM62	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,pfscan_Prot_kinase_cat_dom	p.S495L	ENST00000370101.3	37	c.1484	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036669	0.93630	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000380	T	0.66790	0.2825	L	0.38175	1.15	0.58432	D	0.999999	P;P;P;P;D	0.56287	0.915;0.915;0.915;0.931;0.975	B;B;B;P;P	0.56612	0.314;0.393;0.393;0.528;0.802	T	0.68349	-0.5432	10	0.48119	T	0.1	-7.2726	16.3006	0.82807	0.0:1.0:0.0:0.0	.	419;494;461;495;562	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	L	562;461;494;462;495;420	ENSP00000420058:S562L;ENSP00000377376:S461L;ENSP00000359122:S494L;ENSP00000359126:S462L;ENSP00000359119:S495L;ENSP00000359118:S420L	ENSP00000359118:S420L	S	+	2	0	SRPK3	152703787	0.993000	0.37304	0.927000	0.36925	0.964000	0.63967	3.141000	0.50593	2.102000	0.63906	0.436000	0.28706	TCA	SRPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.657	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	C	NM_014370		153050593	+1	no_errors	ENST00000370101	ensembl	human	known	70_37	missense	SNP	0.997	T
ST3GAL6	10402	genome.wustl.edu	37	3	98507025	98507025	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:98507025G>T	ENST00000483910.1	+	7	866	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.D75Y|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.D193Y|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	193					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TAAGCCACATGATTTAAGGTG	0.363																																																	0													95.0	91.0	92.0					3																	98507025		2203	4300	6503	SO:0001583	missense	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.577G>T	3.37:g.98507025G>T	ENSP00000417376:p.Asp193Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.D193Y	ENST00000483910.1	37	c.577	CCDS2933.1	3	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374232	0.61735	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.92507	3.315	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76958	-0.2766	10	0.87932	D	0	-31.9466	15.7988	0.78436	0.0:0.0:1.0:0.0	.	216;75;193	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	Y	193;75;161;193;193;161;216;107	ENSP00000417376:D193Y;ENSP00000265261:D75Y;ENSP00000417584:D161Y;ENSP00000418896:D193Y;ENSP00000377717:D193Y;ENSP00000418650:D161Y;ENSP00000417201:D216Y;ENSP00000419202:D107Y	ENSP00000265261:D75Y	D	+	1	0	ST3GAL6	99989715	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	6.473000	0.73572	2.666000	0.90696	0.557000	0.71058	GAT	ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.363	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	G	NM_006100		98507025	+1	no_errors	ENST00000394162	ensembl	human	known	70_37	missense	SNP	1.000	T
STC2	8614	genome.wustl.edu	37	5	172745253	172745253	+	Splice_Site	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr5:172745253C>A	ENST00000265087.4	-	4	1816		c.e4-1		STC2_ENST00000520593.1_Splice_Site	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2						cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACGTAGGGTCTAAAGATTGA	0.562																																																	0													29.0	25.0	26.0					5																	172745253		2203	4300	6503	SO:0001630	splice_region_variant	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.507-1G>T	5.37:g.172745253C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e4-1	ENST00000265087.4	37	c.507-1	CCDS4388.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361692	0.82353	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.196	0.93689	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STC2	172677859	1.000000	0.71417	0.834000	0.33040	0.969000	0.65631	7.487000	0.81328	2.531000	0.85337	0.650000	0.86243	.	STC2	-	-		0.562	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	HGNC	protein_coding	OTTHUMT00000252965.1	C	NM_003714	Intron	172745253	-1	no_errors	ENST00000265087	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64685172	64685172	+	Silent	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:64685172G>T	ENST00000344113.4	+	108	19742	c.19530G>T	c.(19528-19530)ctG>ctT	p.L6510L	SYNE2_ENST00000394768.2_Silent_p.L2895L|SYNE2_ENST00000555022.1_Silent_p.L388L|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000357395.3_Silent_p.L2895L|SYNE2_ENST00000458046.2_Silent_p.L167L|SYNE2_ENST00000441438.2_Silent_p.L41L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L3167L|SYNE2_ENST00000554805.1_Silent_p.L293L|SYNE2_ENST00000358025.3_Silent_p.L6533L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6510					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCGAGTCCTGAATGGCAACC	0.532																																																	0													72.0	74.0	73.0					14																	64685172		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19530G>T	14.37:g.64685172G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6533	ENST00000344113.4	37	c.19599	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.532	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64685172	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	0.485	T
TATDN1	83940	genome.wustl.edu	37	8	125528235	125528235	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:125528235C>G	ENST00000276692.6	-	5	276	c.239G>C	c.(238-240)aGa>aCa	p.R80T	TATDN1_ENST00000519548.1_Missense_Mutation_p.R33T|TATDN1_ENST00000605953.1_Missense_Mutation_p.R80T|TATDN1_ENST00000517678.1_Missense_Mutation_p.R26T|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	80					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCACCACATCTTGTAGGATG	0.303																																																	0													72.0	67.0	69.0					8																	125528235		2203	4300	6503	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.239G>C	8.37:g.125528235C>G	ENSP00000276692:p.Arg80Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	pfam_TatD_family,pirsf_TatD_family	p.R80T	ENST00000276692.6	37	c.239	CCDS6351.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.466278|4.466278	0.84425|0.84425	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000519232|ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000523888;ENST00000523152	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77725|0.77725	0.4173|0.4173	M|M	0.79123|0.79123	2.44|2.44	0.53005|0.53005	D|D	0.999964|0.999964	.|P;D	.|0.55800	.|0.887;0.973	.|P;P	.|0.57548	.|0.823;0.621	T|T	0.79446|0.79446	-0.1800|-0.1800	5|9	.|0.59425	.|D	.|0.04	-4.1976|-4.1976	19.5498|19.5498	0.95312|0.95312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80	.|E5RG17;Q6P1N9	.|.;TATD1_HUMAN	N|T	109|80;33;80;26;33;20	.|.	.|ENSP00000276692:R80T	K|R	-|-	3|2	2|0	TATDN1|TATDN1	125597416|125597416	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.972000|0.972000	0.66771|0.66771	6.703000|6.703000	0.74633|0.74633	2.623000|2.623000	0.88846|0.88846	0.563000|0.563000	0.77884|0.77884	AAG|AGA	TATDN1	-	pfam_TatD_family,pirsf_TatD_family		0.303	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1	C	NM_032026		125528235	-1	no_errors	ENST00000276692	ensembl	human	known	70_37	missense	SNP	1.000	G
TFAP2A	7020	genome.wustl.edu	37	6	10404781	10404781	+	Missense_Mutation	SNP	C	C	T	rs151344526		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:10404781C>T	ENST00000482890.1	-	5	1076	c.724G>A	c.(724-726)Gag>Aag	p.E242K	TFAP2A_ENST00000379613.3_Missense_Mutation_p.E244K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238K|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706																																																	0													26.0	23.0	24.0					6																	10404781		2203	4300	6503	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.724G>A	6.37:g.10404781C>T	ENSP00000418541:p.Glu242Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.E242K	ENST00000482890.1	37	c.724	CCDS4510.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.881949|5.881949	0.97062|0.97062	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450|ENST00000461628	D;D;D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2|.	5.17|5.17	4.31|4.31	0.51392|0.51392	Transcription factor AP-2, C-terminal (1);|.	0.108699|.	0.64402|.	D|.	0.000004|.	T|T	0.77191|0.77191	0.4094|0.4094	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	A|A	1|1	D;D;D;D;D|.	0.71674|.	0.998;0.998;0.979;0.979;0.973|.	P;D;P;P;P|.	0.80764|.	0.728;0.994;0.508;0.508;0.608|.	D|D	0.84437|0.84437	0.0580|0.0580	9|4	0.87932|.	D|.	0|.	-11.7105|-11.7105	13.6117|13.6117	0.62083|0.62083	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	242;244;238;242;236|.	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;AP2A_HUMAN;.|.	K|Q	244;242;238;236;242;242;99|16	ENSP00000368933:E244K;ENSP00000368924:E242K;ENSP00000316516:E238K;ENSP00000368928:E236K;ENSP00000418541:E242K;ENSP00000417495:E242K;ENSP00000419961:E99K|.	ENSP00000316516:E238K|.	E|R	-|-	1|2	0|0	TFAP2A|TFAP2A	10512767|10512767	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.496000|7.496000	0.81526|0.81526	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	GAG|CGA	TFAP2A	-	pfam_TF_AP2_C		0.706	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	C	NM_003220		10404781	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	T
TICRR	90381	genome.wustl.edu	37	15	90119090	90119090	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr15:90119090C>T	ENST00000268138.7	+	1	378	c.273C>T	c.(271-273)ccC>ccT	p.P91P	TICRR_ENST00000560985.1_Silent_p.P91P|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	91					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCCACCTGCCCGGCCCGGCGC	0.716																																																	0													5.0	7.0	6.0					15																	90119090		1933	4065	5998	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.273C>T	15.37:g.90119090C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.P91	ENST00000268138.7	37	c.273	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.716	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90119090	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.014	T
TMCC2	9911	genome.wustl.edu	37	1	205210732	205210732	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:205210732C>G	ENST00000358024.3	+	2	696	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.Q25E	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	103						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGACGTCTCAGGATTCCCA	0.597																																																	0													85.0	69.0	74.0					1																	205210732		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.307C>G	1.37:g.205210732C>G	ENSP00000350718:p.Gln103Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.Q103E	ENST00000358024.3	37	c.307	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490054	0.44249	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.33216	1.43;1.42	4.78	4.78	0.61160	.	0.431958	0.22419	N	0.060314	T	0.19967	0.0480	N	0.08118	0	0.40263	D	0.978196	B	0.23316	0.083	B	0.18871	0.023	T	0.11060	-1.0603	10	0.87932	D	0	.	17.7739	0.88501	0.0:1.0:0.0:0.0	.	103	O75069	TMCC2_HUMAN	E	103;25	ENSP00000350718:Q103E;ENSP00000437943:Q25E	ENSP00000350718:Q103E	Q	+	1	0	TMCC2	203477355	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.427000	0.73378	2.360000	0.80028	0.462000	0.41574	CAG	TMCC2	-	NULL		0.597	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	C	NM_014858		205210732	+1	no_errors	ENST00000358024	ensembl	human	known	70_37	missense	SNP	1.000	G
TNKS2	80351	genome.wustl.edu	37	10	93610994	93610994	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:93610994G>A	ENST00000371627.4	+	21	3095	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	906	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGTATTAGTTGAGATGGGGCA	0.378																																																	0													117.0	119.0	118.0					10																	93610994		2203	4300	6503	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2716G>A	10.37:g.93610994G>A	ENSP00000360689:p.Glu906Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.E906K	ENST00000371627.4	37	c.2716	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.420488	0.96111	.	.	ENSG00000107854	ENST00000371627	D	0.84589	-1.87	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000018	D	0.88217	0.6377	M	0.81942	2.565	0.80722	D	1	P	0.37594	0.601	B	0.40444	0.329	D	0.89058	0.3460	10	0.59425	D	0.04	.	19.3617	0.94442	0.0:0.0:1.0:0.0	.	906	Q9H2K2	TNKS2_HUMAN	K	906	ENSP00000360689:E906K	ENSP00000360689:E906K	E	+	1	0	TNKS2	93600974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	GAG	TNKS2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.378	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	G	NM_025235		93610994	+1	no_errors	ENST00000371627	ensembl	human	known	70_37	missense	SNP	1.000	A
TNXB	7148	genome.wustl.edu	37	6	32035601	32035601	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr6:32035601C>T	ENST00000375244.3	-	18	6582	c.6381G>A	c.(6379-6381)gtG>gtA	p.V2127V	TNXB_ENST00000375247.2_Silent_p.V2127V			P22105	TENX_HUMAN	tenascin XB	2199	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CCTTGTACTGCACGGTGAAGG	0.667																																																	0													36.0	40.0	39.0					6																	32035601		1879	4082	5961	SO:0001819	synonymous_variant	7148			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	ENST00000375244.3:c.6381G>A	6.37:g.32035601C>T		Somatic		WXS	Illumina HiSeq	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_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V2127	ENST00000375244.3	37	c.6381		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	C	NM_019105		32035601	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	silent	SNP	0.976	T
TRAPPC1	58485	genome.wustl.edu	37	17	7835148	7835148	+	Splice_Site	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:7835148C>G	ENST00000540486.1	-	2	60		c.e2-1		TRAPPC1_ENST00000303731.4_5'UTR|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000565740.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank	NM_001166621.1	NP_001160093.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1						ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				GGACAGTCATCTGCAGGGCAG	0.632																																																	0													124.0	112.0	116.0					17																	7835148		2203	4300	6503	SO:0001630	splice_region_variant	58485			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000540486.1:c.1-1G>C	17.37:g.7835148C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTR0	Splice_Site	SNP	-	e1-1	ENST00000540486.1	37	c.1-1	CCDS11125.1	17																																																																																			TRAPPC1	-	-		0.632	TRAPPC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC1	HGNC	protein_coding		C	NM_021210	Intron	7835148	-1	no_errors	ENST00000540486	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TRIM9	114088	genome.wustl.edu	37	14	51561087	51561087	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr14:51561087C>G	ENST00000298355.3	-	1	1692	c.571G>C	c.(571-573)Gat>Cat	p.D191H	TRIM9_ENST00000360392.4_Missense_Mutation_p.D191H|TRIM9_ENST00000338969.5_Missense_Mutation_p.D191H	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	191					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCACGGATCGCAGTAGAAG	0.697																																																	0													27.0	26.0	26.0					14																	51561087		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.571G>C	14.37:g.51561087C>G	ENSP00000298355:p.Asp191His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.D191H	ENST00000298355.3	37	c.571	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613139	0.46631	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.72051	-0.49;-0.62;0.43	4.96	4.96	0.65561	Zinc finger, B-box (2);	0.115763	0.56097	D	0.000026	T	0.66934	0.2840	L	0.51914	1.62	0.54753	D	0.999981	B;B;B	0.15141	0.002;0.012;0.004	B;B;B	0.16722	0.007;0.012;0.016	T	0.65865	-0.6064	10	0.59425	D	0.04	.	15.6895	0.77439	0.0:1.0:0.0:0.0	.	191;191;191	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	H	191	ENSP00000298355:D191H;ENSP00000342970:D191H;ENSP00000353561:D191H	ENSP00000298355:D191H	D	-	1	0	TRIM9	50630837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.785000	0.62418	2.291000	0.77112	0.561000	0.74099	GAT	TRIM9	-	superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box		0.697	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	C	NM_015163		51561087	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP12	9320	genome.wustl.edu	37	2	230650475	230650475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:230650475C>A	ENST00000283943.5	-	33	5045	c.4867G>T	c.(4867-4869)Gag>Tag	p.E1623*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.E1671*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.E1353*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1623					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAGCTCACCTCATTTTCATAC	0.443																																																	0													116.0	117.0	116.0					2																	230650475		2203	4300	6503	SO:0001587	stop_gained	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4867G>T	2.37:g.230650475C>A	ENSP00000283943:p.Glu1623*	Somatic		WXS	Illumina HiSeq	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.E1623*	ENST00000283943.5	37	c.4867	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	46	12.458379	0.99669	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7491	0.96260	0.0:1.0:0.0:0.0	.	.	.	.	X	1623;1353;1671	.	ENSP00000283943:E1623X	E	-	1	0	TRIP12	230358719	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.405000	0.80007	2.661000	0.90470	0.585000	0.79938	GAG	TRIP12	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.443	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	C	NM_004238		230650475	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TXK	7294	genome.wustl.edu	37	4	48069682	48069682	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr4:48069682G>C	ENST00000264316.4	-	15	1641	c.1556C>G	c.(1555-1557)gCt>gGt	p.A519G	TXK_ENST00000507351.1_Missense_Mutation_p.A174G	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTCTGTGACAGCCCGCAGCAG	0.488																																																	0													112.0	117.0	115.0					4																	48069682		2203	4300	6503	SO:0001583	missense	7294			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1556C>G	4.37:g.48069682G>C	ENSP00000264316:p.Ala519Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A519G	ENST00000264316.4	37	c.1556	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154995	0.06544	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	T;T	0.62788	-0.0;-0.0	4.95	-3.45	0.04781	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.881962	0.09813	N	0.752510	T	0.45875	0.1364	L	0.46614	1.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.33548	-0.9864	10	0.33940	T	0.23	.	2.919	0.05762	0.3271:0.13:0.4153:0.1277	.	206;519	B4DTB5;P42681	.;TXK_HUMAN	G	519;174	ENSP00000264316:A519G;ENSP00000423481:A174G	ENSP00000264316:A519G	A	-	2	0	TXK	47764439	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.006000	0.12833	-0.424000	0.07382	0.561000	0.74099	GCT	TXK	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	G	NM_003328		48069682	-1	no_errors	ENST00000264316	ensembl	human	known	70_37	missense	SNP	0.000	C
TYMP	1890	genome.wustl.edu	37	22	50967988	50967988	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr22:50967988C>T	ENST00000252029.3	-	2	313	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	TYMP_ENST00000395678.3_Missense_Mutation_p.E51K|TYMP_ENST00000395680.1_Missense_Mutation_p.E51K|TYMP_ENST00000395681.1_Missense_Mutation_p.E51K	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	51					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	ATGTCCGCTTCGCTCAGGCGG	0.682																																																	0													38.0	41.0	40.0					22																	50967988		2202	4300	6502	SO:0001583	missense	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.151G>A	22.37:g.50967988C>T	ENSP00000252029:p.Glu51Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.E51K	ENST00000252029.3	37	c.151	CCDS14096.1	22	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325840	0.41197	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	4.78	3.76	0.43208	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.621428	0.15704	N	0.248759	T	0.79805	0.4509	N	0.12663	0.25	0.20703	N	0.999861	P;P;P;P	0.48640	0.812;0.913;0.913;0.913	B;B;B;B	0.39971	0.315;0.208;0.208;0.208	T	0.72858	-0.4165	10	0.02654	T	1	-13.9946	8.8339	0.35100	0.0:0.8943:0.0:0.1057	.	51;51;51;51	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	K	51	ENSP00000379037:E51K;ENSP00000379038:E51K;ENSP00000252029:E51K;ENSP00000379036:E51K;ENSP00000395875:E51K	ENSP00000252029:E51K	E	-	1	0	TYMP	49314854	0.006000	0.16342	0.402000	0.26371	0.740000	0.42216	1.027000	0.30115	1.024000	0.39682	0.448000	0.29417	GAA	TYMP	-	pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk		0.682	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1	C	NM_001953		50967988	-1	no_errors	ENST00000252029	ensembl	human	known	70_37	missense	SNP	0.290	T
UROC1	131669	genome.wustl.edu	37	3	126202258	126202258	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:126202258G>C	ENST00000290868.2	-	19	1897	c.1844C>G	c.(1843-1845)gCc>gGc	p.A615G	UROC1_ENST00000383579.3_Missense_Mutation_p.A675G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	615					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCTCCCCTCGGCCTCCGGGGT	0.622																																																	0													67.0	61.0	63.0					3																	126202258		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1844C>G	3.37:g.126202258G>C	ENSP00000290868:p.Ala615Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.A615G	ENST00000290868.2	37	c.1844	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	g	17.60	3.428761	0.62844	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.53857	0.6;0.6	5.4	5.4	0.78164	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.93898	3.47	0.80722	D	1	D;B	0.56521	0.976;0.304	D;P	0.67231	0.95;0.482	D	0.84786	0.0776	10	0.87932	D	0	-16.6068	16.6956	0.85334	0.0:0.0:1.0:0.0	.	675;615	E9PE13;Q96N76	.;HUTU_HUMAN	G	615;675	ENSP00000290868:A615G;ENSP00000373073:A675G	ENSP00000290868:A615G	A	-	2	0	UROC1	127684948	1.000000	0.71417	0.972000	0.41901	0.031000	0.12232	7.095000	0.76952	2.545000	0.85829	0.479000	0.44913	GCC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126202258	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.999	C
USP9X	8239	genome.wustl.edu	37	X	41055965	41055965	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:41055965G>A	ENST00000324545.8	+	28	4840	c.4207G>A	c.(4207-4209)Gaa>Aaa	p.E1403K	USP9X_ENST00000378308.2_Missense_Mutation_p.E1403K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1403					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCTCAATAATGAAATTGATTG	0.264																																					Ovarian(172;1807 2695 35459 49286)												0													43.0	37.0	38.0					X																	41055965		1843	4123	5966	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4207G>A	X.37:g.41055965G>A	ENSP00000316357:p.Glu1403Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E1403K	ENST00000324545.8	37	c.4207	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.261205	0.95368	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66638	-0.22;-0.22	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.80743	-0.1246	10	0.27785	T	0.31	.	18.1086	0.89528	0.0:0.0:1.0:0.0	.	1403;1403	Q93008-1;Q93008	.;USP9X_HUMAN	K	1403	ENSP00000367558:E1403K;ENSP00000316357:E1403K	ENSP00000316357:E1403K	E	+	1	0	USP9X	40940909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.300000	0.77407	0.544000	0.68410	GAA	USP9X	-	NULL		0.264	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41055965	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
UTP6	55813	genome.wustl.edu	37	17	30228608	30228608	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr17:30228608G>A	ENST00000261708.4	-	1	176	c.39C>T	c.(37-39)ctC>ctT	p.L13L	UTP6_ENST00000490218.2_5'Flank	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	13					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCAATTCCGGGAGCCGATCTT	0.567																																																	0													107.0	99.0	102.0					17																	30228608		2203	4300	6503	SO:0001819	synonymous_variant	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.39C>T	17.37:g.30228608G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	pfam_U3_snoRNA_assoc-6,smart_HAT	p.L13	ENST00000261708.4	37	c.39	CCDS11269.1	17																																																																																			UTP6	-	pfam_U3_snoRNA_assoc-6		0.567	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP6	HGNC	protein_coding	OTTHUMT00000256265.2	G	NM_018428		30228608	-1	no_errors	ENST00000261708	ensembl	human	known	70_37	silent	SNP	0.988	A
VN1R2	317701	genome.wustl.edu	37	19	53761980	53761980	+	Nonsense_Mutation	SNP	G	G	T	rs139933646	byFrequency	TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:53761980G>T	ENST00000341702.3	+	1	436	c.352G>T	c.(352-354)Gga>Tga	p.G118*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	118					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTACTTTAGGGGATACAAGCC	0.428																																																	0													81.0	86.0	85.0					19																	53761980		2203	4300	6503	SO:0001587	stop_gained	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.352G>T	19.37:g.53761980G>T	ENSP00000351244:p.Gly118*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L411|Q8TDU4	Nonsense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G118*	ENST00000341702.3	37	c.352	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398541	0.42512	.	.	ENSG00000196131	ENST00000341702	.	.	.	2.93	-3.73	0.04398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.9334	0.13928	0.4118:0.152:0.4361:0.0	.	.	.	.	X	118	.	ENSP00000351244:G118X	G	+	1	0	VN1R2	58453792	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.124000	0.10595	-0.622000	0.05626	-0.193000	0.12794	GGA	VN1R2	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	G	NM_173856		53761980	+1	no_errors	ENST00000341702	ensembl	human	known	70_37	nonsense	SNP	0.000	T
VPS13D	55187	genome.wustl.edu	37	1	12433879	12433879	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:12433879C>T	ENST00000358136.3	+	55	11013	c.10883C>T	c.(10882-10884)tCa>tTa	p.S3628L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.S3603L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGATGTCTCACCCAAGACA	0.418																																																	0													42.0	44.0	43.0					1																	12433879		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10883C>T	1.37:g.12433879C>T	ENSP00000350854:p.Ser3628Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3628L	ENST00000358136.3	37	c.10883	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.48|16.48	3.135864|3.135864	0.56936|0.56936	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51325	.|0.71;0.71	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.260088	.|0.37906	.|N	.|0.001894	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28933	.|0.228;0.136	.|B;B	.|0.34824	.|0.19;0.05	T|T	0.22906|0.22906	-1.0203|-1.0203	5|10	.|0.39692	.|T	.|0.17	.|.	14.1201|14.1201	0.65182|0.65182	0.1504:0.8496:0.0:0.0|0.1504:0.8496:0.0:0.0	.|.	.|3603;3627	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Y|L	2450|3603;3628	.|ENSP00000348666:S3603L;ENSP00000350854:S3628L	.|ENSP00000348666:S3603L	H|S	+|+	1|2	0|0	VPS13D|VPS13D	12356466|12356466	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.726000|0.726000	0.41606|0.41606	5.595000|5.595000	0.67563|0.67563	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CAC|TCA	VPS13D	-	NULL		0.418	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12433879	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.999	T
VSIG4	11326	genome.wustl.edu	37	X	65242172	65242172	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:65242172G>T	ENST00000374737.4	-	8	1241	c.1133C>A	c.(1132-1134)gCc>gAc	p.A378D	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.A284D	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	378					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCAGGCGGGCGTAGTTGCC	0.507																																																	0													89.0	72.0	78.0					X																	65242172		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1133C>A	X.37:g.65242172G>T	ENSP00000363869:p.Ala378Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.A378D	ENST00000374737.4	37	c.1133	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	G	9.894	1.205099	0.22205	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.36340	1.26;1.7	4.55	4.55	0.56014	.	0.378220	0.19225	N	0.119572	T	0.31231	0.0790	L	0.40543	1.245	0.45502	D	0.998464	P;B	0.35908	0.527;0.392	B;B	0.37989	0.262;0.134	T	0.07121	-1.0789	10	0.35671	T	0.21	-2.5488	11.6876	0.51497	0.0:0.0:1.0:0.0	.	284;378	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	D	378;284	ENSP00000363869:A378D;ENSP00000394143:A284D	ENSP00000363869:A378D	A	-	2	0	VSIG4	65158897	0.004000	0.15560	0.004000	0.12327	0.002000	0.02628	0.518000	0.22847	2.240000	0.73641	0.513000	0.50165	GCC	VSIG4	-	NULL		0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	G	NM_007268		65242172	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	missense	SNP	0.006	T
WDFY4	57705	genome.wustl.edu	37	10	50014080	50014080	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr10:50014080C>A	ENST00000325239.5	+	26	4705	c.4678C>A	c.(4678-4680)Cct>Act	p.P1560T	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1560						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CACCCTCAAGCCTTCGTCGGT	0.572																																																	0													205.0	170.0	180.0					10																	50014080		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4678C>A	10.37:g.50014080C>A	ENSP00000320563:p.Pro1560Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1560T	ENST00000325239.5	37	c.4678	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.883222|1.883222	0.33255|0.33255	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002;ENST00000374161|ENST00000426033;ENST00000325239	.|T	.|0.55760	.|0.5	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.992;0.999	T|T	0.59322|0.59322	-0.7476|-0.7476	5|9	.|.	.|.	.|.	.|.	16.4466|16.4466	0.83936|0.83936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|88;1560	.|F2Z372;Q6ZS81	.|.;WDFY4_HUMAN	D|T	650;106|1560	.|ENSP00000320563:P1560T	.|.	A|P	+|+	2|1	0|0	WDFY4|WDFY4	49684086|49684086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.775000|0.775000	0.43874|0.43874	4.677000|4.677000	0.61634|0.61634	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCC|CCT	WDFY4	-	NULL		0.572	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		50014080	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR24	84219	genome.wustl.edu	37	16	736989	736989	+	Missense_Mutation	SNP	C	C	T	rs375731444		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:736989C>T	ENST00000248142.6	-	7	1476	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	WDR24_ENST00000293883.4_Missense_Mutation_p.E363K|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	493										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCCCCGACTCGGCAGCCACG	0.706																																																	0								C	LYS/GLU	0,4322		0,0,2161	8.0	10.0	10.0		1087	4.6	0.3	16		10	1,8495		0,1,4247	no	missense	WDR24	NM_032259.2	56	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	benign	363/791	736989	1,12817	2161	4248	6409	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1477G>A	16.37:g.736989C>T	ENSP00000248142:p.Glu493Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E493K	ENST00000248142.6	37	c.1477		16	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488555	0.12641	0.0	1.18E-4	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.76839	-1.05;0.36	4.55	4.55	0.56014	.	0.106364	0.64402	D	0.000007	T	0.55449	0.1921	N	0.08118	0	0.53005	D	0.99996	B	0.30482	0.281	B	0.22880	0.042	T	0.58165	-0.7684	10	0.07030	T	0.85	-22.3056	16.8331	0.85950	0.0:1.0:0.0:0.0	.	363	Q96S15-2	.	K	493;363	ENSP00000248142:E493K;ENSP00000293883:E363K	ENSP00000248142:E493K	E	-	1	0	WDR24	676990	1.000000	0.71417	0.291000	0.24904	0.375000	0.29983	6.982000	0.76173	2.513000	0.84729	0.655000	0.94253	GAG	WDR24	-	NULL		0.706	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		736989	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	missense	SNP	0.997	T
WDR24	84219	genome.wustl.edu	37	16	737621	737621	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:737621C>T	ENST00000248142.6	-	6	989	c.990G>A	c.(988-990)gaG>gaA	p.E330E	WDR24_ENST00000293883.4_Silent_p.E200E|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	330										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGAACATCCTCTCGCACCGGT	0.617																																																	0													102.0	85.0	91.0					16																	737621		2199	4300	6499	SO:0001819	synonymous_variant	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.990G>A	16.37:g.737621C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E330	ENST00000248142.6	37	c.990		16																																																																																			WDR24	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.617	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		737621	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	silent	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	993814	993814	+	Splice_Site	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr12:993814G>A	ENST00000315939.6	+	19	4487		c.e19-1		WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000537687.1_Splice_Site|WNK1_ENST00000535572.1_Splice_Site|WNK1_ENST00000340908.4_Splice_Site	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTTTGCAGTTGCTGCCTC	0.403																																					Colon(19;451 567 6672 12618 28860)												0													80.0	71.0	74.0					12																	993814		2203	4300	6503	SO:0001630	splice_region_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3845-1G>A	12.37:g.993814G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Splice_Site	SNP	-	e21-1	ENST00000315939.6	37	c.5339-1	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135703	0.37728	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNK1	864075	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	6.619000	0.74219	2.709000	0.92574	0.655000	0.94253	.	WNK1	-	-		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979	Intron	993814	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	splice_site	SNP	1.000	A
TSIX	9383	genome.wustl.edu	37	X	73047699	73047699	+	lincRNA	SNP	G	G	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chrX:73047699G>T	ENST00000604411.1	+	0	35660				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AACAAAAAGAGAAAATGAGGC	0.373																																																	0													17.0	14.0	15.0					X																	73047699		868	1974	2842			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047699G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.373	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	G	NR_003255		73047699	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	T
XKR7	343702	genome.wustl.edu	37	20	30585091	30585091	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr20:30585091G>A	ENST00000562532.2	+	3	1745	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	524						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTGTCATCCGGATTGACTTG	0.642																																																	0													45.0	51.0	49.0					20																	30585091		2203	4299	6502	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1571G>A	20.37:g.30585091G>A	ENSP00000477059:p.Arg524Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R524Q	ENST00000562532.2	37	c.1571	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835204	0.91117	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	L	0.61218	1.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.79317	-0.1853	9	0.72032	D	0.01	-3.6123	16.7017	0.85351	0.0:0.0:1.0:0.0	.	524	Q5GH72	XKR7_HUMAN	Q	524	.	ENSP00000217299:R524Q	R	+	2	0	XKR7	30048752	0.454000	0.25728	1.000000	0.80357	0.991000	0.79684	2.356000	0.44116	2.518000	0.84900	0.561000	0.74099	CGG	XKR7	-	NULL		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	G	NM_001011718		30585091	+1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB38	253461	genome.wustl.edu	37	3	141161572	141161572	+	Silent	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr3:141161572G>A	ENST00000514251.1	+	4	621	c.342G>A	c.(340-342)ctG>ctA	p.L114L	ZBTB38_ENST00000321464.5_Silent_p.L115L|ZBTB38_ENST00000441582.2_Silent_p.L114L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAAAAAAGCTGGGAATATCGT	0.408																																																	0													62.0	59.0	60.0					3																	141161572		1888	4124	6012	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.342G>A	3.37:g.141161572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L115	ENST00000514251.1	37	c.345	CCDS43157.1	3																																																																																			ZBTB38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141161572	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	1.000	A
ZFYVE9	9372	genome.wustl.edu	37	1	52704665	52704665	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr1:52704665G>A	ENST00000371591.1	+	3	1707	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E526K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E526K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	526					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAGAGGAAATGAGGCCACAGA	0.363																																																	0													51.0	52.0	52.0					1																	52704665		2203	4299	6502	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1576G>A	1.37:g.52704665G>A	ENSP00000360647:p.Glu526Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E526K	ENST00000371591.1	37	c.1576	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902138	0.52227	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.60171	0.67;0.21;0.78;0.78	5.69	5.69	0.88448	.	0.095077	0.43579	D	0.000549	T	0.55033	0.1895	L	0.27053	0.805	0.42288	D	0.992124	P;P;P	0.46142	0.592;0.651;0.873	B;B;P	0.46659	0.254;0.165;0.523	T	0.56438	-0.7979	10	0.48119	T	0.1	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	526;526;526	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	526	ENSP00000349737:E526K;ENSP00000355358:E526K;ENSP00000287727:E526K;ENSP00000360647:E526K	ENSP00000287727:E526K	E	+	1	0	ZFYVE9	52477253	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.993000	0.76245	2.690000	0.91761	0.655000	0.94253	GAG	ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52704665	+1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF135	7694	genome.wustl.edu	37	19	58578900	58578900	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:58578900G>C	ENST00000313434.5	+	5	1149	c.1048G>C	c.(1048-1050)Ggg>Cgg	p.G350R	ZNF135_ENST00000359978.6_Missense_Mutation_p.G362R|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.G350R|ZNF135_ENST00000506786.1_Missense_Mutation_p.G308R|ZNF135_ENST00000511556.1_Missense_Mutation_p.G362R|ZNF135_ENST00000401053.4_Missense_Mutation_p.G374R	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	350					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572																																																	0													52.0	45.0	47.0					19																	58578900		2203	4300	6503	SO:0001583	missense	7694			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1048G>C	19.37:g.58578900G>C	ENSP00000321406:p.Gly350Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.G374R	ENST00000313434.5	37	c.1120		19	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306762	0.40795	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;4.72	3.1	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42877	0.1222	L	0.50919	1.6	0.37456	D	0.915027	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50541	-0.8816	9	0.72032	D	0.01	.	11.9961	0.53204	0.0:0.0:1.0:0.0	.	362;350;362	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	R	362;374;362;350;350;362;308	ENSP00000441410:G374R;ENSP00000369437:G362R;ENSP00000444828:G350R;ENSP00000321406:G350R;ENSP00000422074:G362R;ENSP00000427691:G308R	ENSP00000321406:G350R	G	+	1	0	ZNF135	63270712	1.000000	0.71417	0.985000	0.45067	0.092000	0.18411	4.846000	0.62860	1.736000	0.51660	0.557000	0.71058	GGG	ZNF135	-	pfscan_Znf_C2H2		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	G	NM_003436		58578900	+1	no_errors	ENST00000401053	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF142	7701	genome.wustl.edu	37	2	219503090	219503090	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr2:219503090G>A	ENST00000449707.1	-	10	5457	c.5036C>T	c.(5035-5037)gCc>gTc	p.A1679V	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1679V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1679					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)		GTGGGGAGCGGCAGGAGCAGG	0.627																																					Colon(170;867 1942 8995 15834 18053)												0													25.0	28.0	27.0					2																	219503090		2039	4187	6226	SO:0001583	missense	7701			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.5036C>T	2.37:g.219503090G>A	ENSP00000408643:p.Ala1679Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1679V	ENST00000449707.1	37	c.5036	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161022	0.57368	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11930	2.73;2.73	5.92	5.02	0.67125	.	0.195518	0.43416	D	0.000573	T	0.09905	0.0243	N	0.24115	0.695	0.09310	N	0.999992	B;B	0.27498	0.18;0.18	B;B	0.27796	0.083;0.083	T	0.22452	-1.0216	10	0.44086	T	0.13	-3.9385	9.7982	0.40748	0.0:0.1522:0.6899:0.1579	.	1679;1516	P52746;A8MWU9	ZN142_HUMAN;.	V	1679	ENSP00000408643:A1679V;ENSP00000398798:A1679V	ENSP00000398798:A1679V	A	-	2	0	ZNF142	219211334	0.555000	0.26530	0.502000	0.27614	0.413000	0.31143	2.143000	0.42187	1.445000	0.47624	0.609000	0.83330	GCC	ZNF142	-	NULL		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	G	NM_005081		219503090	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.441	A
ZNF557	79230	genome.wustl.edu	37	19	7083388	7083388	+	Missense_Mutation	SNP	C	C	T	rs201284911		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:7083388C>T	ENST00000439035.2	+	8	1145	c.905C>T	c.(904-906)tCg>tTg	p.S302L	ZNF557_ENST00000414706.1_Missense_Mutation_p.S309L|ZNF557_ENST00000252840.6_Missense_Mutation_p.S309L			Q8N988	ZN557_HUMAN	zinc finger protein 557	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TCTCTTTCTTCGCACTATAGC	0.473																																																	0								C	LEU/SER,LEU/SER,LEU/SER	2,4346	4.2+/-10.8	0,2,2172	144.0	155.0	151.0		926,905,926	-2.6	0.0	19		151	1,8551	1.2+/-3.3	0,1,4275	yes	missense,missense,missense	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	145,145,145	0,3,6447	TT,TC,CC		0.0117,0.046,0.0233	benign,benign,benign	309/431,302/424,309/431	7083388	3,12897	2174	4276	6450	SO:0001583	missense	79230			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.905C>T	19.37:g.7083388C>T	ENSP00000398965:p.Ser302Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEJ3|Q9BTZ1	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.S309L	ENST00000439035.2	37	c.926	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	C	0.598	-0.830313	0.02734	4.6E-4	1.17E-4	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.18174	2.23;2.23;2.23	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.25332	0.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37663	-0.9696	9	0.17369	T	0.5	.	6.3068	0.21143	0.0:0.1481:0.6344:0.2175	.	302;309	Q8N988;Q8N988-2	ZN557_HUMAN;.	L	309;309;302	ENSP00000252840:S309L;ENSP00000404065:S309L;ENSP00000398965:S302L	ENSP00000252840:S309L	S	+	2	0	ZNF557	7034388	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-6.534000	0.00062	-2.112000	0.00835	-0.786000	0.03341	TCG	ZNF557	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	C	NM_024341		7083388	+1	no_errors	ENST00000252840	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF623	9831	genome.wustl.edu	37	8	144733545	144733545	+	Silent	SNP	C	C	T	rs373603798		TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr8:144733545C>T	ENST00000501748.2	+	1	1592	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	ZNF623_ENST00000526926.1_Silent_p.N461N|ZNF623_ENST00000458270.2_Silent_p.N461N	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N501N(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAACTACAAACGTTAAAAATA	0.408																																																	1	Substitution - coding silent(1)	endometrium(1)											76.0	76.0	76.0					8																	144733545		2203	4300	6503	SO:0001819	synonymous_variant	9831			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1503C>T	8.37:g.144733545C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N501	ENST00000501748.2	37	c.1503	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109439	0.06924	.	.	ENSG00000183309	ENST00000328466	.	.	.	3.78	2.87	0.33458	.	.	.	.	.	T	0.62085	0.2399	.	.	.	0.40107	D	0.976446	.	.	.	.	.	.	T	0.62895	-0.6757	5	0.54805	T	0.06	-4.3385	8.4296	0.32750	0.0:0.8779:0.0:0.1221	.	.	.	.	M	461	.	ENSP00000330358:T461M	T	+	2	0	ZNF623	144804688	0.000000	0.05858	0.030000	0.17652	0.041000	0.13682	0.158000	0.16422	0.902000	0.36520	0.491000	0.48974	ACG	ZNF623	-	NULL		0.408	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	C	NM_014789		144733545	+1	no_errors	ENST00000501748	ensembl	human	known	70_37	silent	SNP	0.637	T
ZNF720	124411	genome.wustl.edu	37	16	31724630	31724630	+	5'UTR	SNP	C	C	G			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr16:31724630C>G	ENST00000316491.9	+	0	76				ZNF720_ENST00000534369.1_5'UTR|ZNF720_ENST00000539915.1_5'UTR|ZNF720_ENST00000531864.2_3'UTR|ZNF720_ENST00000399681.3_5'UTR|CTD-2358C21.4_ENST00000569175.2_RNA|ZNF720_ENST00000398696.3_5'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GGCTCCCAGTCCTTCCATCTG	0.607																																																	0																																										SO:0001623	5_prime_UTR_variant	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.-124C>G	16.37:g.31724630C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQX1	RNA	SNP	-	NULL	ENST00000316491.9	37	NULL	CCDS45473.1	16																																																																																			ZNF720	-	-		0.607	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	C	NM_001004300		31724630	+1	no_errors	ENST00000531864	ensembl	human	known	70_37	rna	SNP	0.001	G
ZNF737	100129842	genome.wustl.edu	37	19	20736569	20736569	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:20736569G>A	ENST00000427401.4	-	2	170	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Missense_Mutation_p.R26W	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TATAAATTCCGCTGTGCAGTG	0.393																																																	0													59.0	54.0	56.0					19																	20736569		692	1590	2282	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.76C>T	19.37:g.20736569G>A	ENSP00000395733:p.Arg26Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHM3	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.R26W	ENST00000427401.4	37	c.76	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	g	4.013	-0.000167	0.07819	.	.	ENSG00000237440	ENST00000427401	T	0.03004	4.08	0.819	-1.64	0.08318	.	.	.	.	.	T	0.04048	0.0113	L	0.60957	1.885	0.23298	N	0.99795	B	0.21381	0.055	B	0.17979	0.02	T	0.41840	-0.9486	9	0.56958	D	0.05	.	2.9567	0.05878	0.0:0.0:0.5111:0.4888	.	26	C9JHM3	.	W	26	ENSP00000395733:R26W	ENSP00000395733:R26W	R	-	1	2	ZNF737	20528409	0.003000	0.15002	0.541000	0.28102	0.546000	0.35178	-0.039000	0.12124	0.191000	0.20236	0.194000	0.17425	CGG	ZNF737	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.393	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20736569	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	missense	SNP	0.861	A
ZNF724P	440519	genome.wustl.edu	37	19	23405220	23405220	+	Silent	SNP	C	C	T			TCGA-C5-A3HD-01B-11D-A20U-09	TCGA-C5-A3HD-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d29518-a652-4a57-ae67-a1c223f02851	ccaafdac-76a5-43c5-9202-e078e70d121e	g.chr19:23405220C>T	ENST00000418100.1	-	4	1944	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CATGAATTTTCTTGTGTGTAG	0.423																																																	0																																										SO:0001819	synonymous_variant	440519					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1827G>A	19.37:g.23405220C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K609	ENST00000418100.1	37	c.1827		19																																																																																			ZNF724P	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	HGNC	protein_coding	OTTHUMT00000465743.1	C			23405220	-1	no_errors	ENST00000418100	ensembl	human	novel	70_37	silent	SNP	0.120	T
