#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
A2ML1	144568	genome.wustl.edu	37	12	8982339	8982339	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:8982339C>T	ENST00000299698.7	+	4	606	c.426C>T	c.(424-426)gtC>gtT	p.V142V	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCGCATTGTCACCATGGATA	0.433																																																	0													136.0	134.0	134.0					12																	8982339		1973	4174	6147	SO:0001819	synonymous_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.426C>T	12.37:g.8982339C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.V142	ENST00000299698.7	37	c.426	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_N		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	C	NM_144670		8982339	+1	no_errors	ENST00000299698	ensembl	human	known	70_37	silent	SNP	0.888	T
ABCA8	10351	genome.wustl.edu	37	17	66924155	66924155	+	Missense_Mutation	SNP	G	G	A	rs143566631		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:66924155G>A	ENST00000269080.2	-	9	1312	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S392L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S392L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	392					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGAGCCGTCCGATGGATGAGG	0.328																																																	0								G	LEU/SER	0,4406		0,0,2203	68.0	69.0	68.0		1175	-1.9	0.0	17	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA8	NM_007168.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	392/1582	66924155	1,13005	2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1175C>T	17.37:g.66924155G>A	ENSP00000269080:p.Ser392Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S392L	ENST00000269080.2	37	c.1175	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209139	0.22205	0.0	1.16E-4	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000542396	D;D	0.86627	-2.14;-2.15	4.14	-1.87	0.07737	.	1.593530	0.03942	N	0.286998	D	0.84853	0.5564	M	0.65498	2.005	0.09310	N	1	B;B;B;B;B	0.25351	0.024;0.124;0.007;0.024;0.059	B;B;B;B;B	0.24269	0.013;0.052;0.015;0.031;0.052	T	0.64824	-0.6316	10	0.23891	T	0.37	.	9.9602	0.41691	0.4398:0.0:0.5602:0.0	.	331;392;392;392;392	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	392;392;331;23	ENSP00000269080:S392L;ENSP00000402814:S392L	ENSP00000269080:S392L	S	-	2	0	ABCA8	64435750	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.359000	0.07632	-0.730000	0.04869	-0.813000	0.03139	TCG	ABCA8	-	NULL		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	G	NM_007168		66924155	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.000	A
ADAMTS14	140766	genome.wustl.edu	37	10	72520346	72520346	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:72520346C>A	ENST00000373207.1	+	22	3409	c.3409C>A	c.(3409-3411)Cca>Aca	p.P1137T	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1140T	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1137	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCCTGGAAAGCCAACGGGATC	0.637																																																	0													58.0	59.0	59.0					10																	72520346		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3409C>A	10.37:g.72520346C>A	ENSP00000362303:p.Pro1137Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.P1140T	ENST00000373207.1	37	c.3418	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530032	0.13127	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61742	0.08;0.11	3.88	1.97	0.26223	.	0.000000	0.45606	D	0.000350	T	0.35941	0.0949	L	0.29908	0.895	0.09310	N	1	B;B	0.22276	0.067;0.067	B;B	0.16289	0.015;0.015	T	0.24621	-1.0155	10	0.02654	T	1	.	9.8155	0.40849	0.5461:0.4539:0.0:0.0	.	1137;1140	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	T	1140;1137	ENSP00000362304:P1140T;ENSP00000362303:P1137T	ENSP00000362303:P1137T	P	+	1	0	ADAMTS14	72190352	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	-0.135000	0.10420	0.577000	0.29470	0.655000	0.94253	CCA	ADAMTS14	-	NULL		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	C	NM_080722		72520346	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.003	A
ADPRHL1	113622	genome.wustl.edu	37	13	114083292	114083292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr13:114083292G>T	ENST00000375418.3	-	4	707	c.621C>A	c.(619-621)tgC>tgA	p.C207*	ADPRHL1_ENST00000356501.4_Nonsense_Mutation_p.C125*	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	207					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGGTCTTCCTGCAGTACTCTT	0.652																																																	0													55.0	50.0	52.0					13																	114083292		2203	4300	6503	SO:0001587	stop_gained	113622			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.621C>A	13.37:g.114083292G>T	ENSP00000364567:p.Cys207*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUG2|Q96GD1	Nonsense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.C207*	ENST00000375418.3	37	c.621	CCDS9535.1	13	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246785	0.59103	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	.	.	.	5.15	-0.492	0.12041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-23.8797	10.2413	0.43314	0.6641:0.0:0.3359:0.0	.	.	.	.	X	125;207;125	.	ENSP00000348894:C125X	C	-	3	2	ADPRHL1	113131293	1.000000	0.71417	0.846000	0.33378	0.144000	0.21451	0.735000	0.26115	-0.339000	0.08401	0.462000	0.41574	TGC	ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro		0.652	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	G	NM_138430		114083292	-1	no_errors	ENST00000375418	ensembl	human	known	70_37	nonsense	SNP	0.999	T
ANKRD30BP2	149992	genome.wustl.edu	37	21	14418615	14418615	+	RNA	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr21:14418615C>T	ENST00000507941.1	+	0	1227				RNU6-614P_ENST00000384369.1_RNA					ankyrin repeat domain 30B pseudogene 2																		CACGGTTCTTCAGCAAAATGT	0.383																																																	0																																												149992			AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14418615C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000507941.1	37	NULL		21																																																																																			ANKRD30BP2	-	-		0.383	ANKRD30BP2-004	KNOWN	basic	processed_transcript	ANKRD30BP2	HGNC	pseudogene	OTTHUMT00000372094.1	C	NR_026916		14418615	+1	no_errors	ENST00000507941	ensembl	human	known	70_37	rna	SNP	0.093	T
AQP11	282679	genome.wustl.edu	37	11	77301505	77301505	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:77301505G>A	ENST00000313578.3	+	1	826	c.468G>A	c.(466-468)aaG>aaA	p.K156K	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	156					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TCGCTTGCAAGAATCCCATCC	0.572																																																	0													103.0	91.0	95.0					11																	77301505		2200	4292	6492	SO:0001819	synonymous_variant	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.468G>A	11.37:g.77301505G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP	p.K156	ENST00000313578.3	37	c.468	CCDS8251.1	11																																																																																			AQP11	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11		0.572	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP11	HGNC	protein_coding	OTTHUMT00000382582.1	G	NM_173039		77301505	+1	no_errors	ENST00000313578	ensembl	human	known	70_37	silent	SNP	0.167	A
ARPP21	10777	genome.wustl.edu	37	3	35732402	35732402	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:35732402G>C	ENST00000187397.4	+	9	1047	c.591G>C	c.(589-591)atG>atC	p.M197I	ARPP21_ENST00000458225.1_Missense_Mutation_p.M197I|ARPP21_ENST00000444190.1_Missense_Mutation_p.M197I|ARPP21_ENST00000417925.1_Missense_Mutation_p.M197I|ARPP21_ENST00000337271.5_Missense_Mutation_p.M197I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	197	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCAGAGGATGCTTGTCCATC	0.368																																																	0													121.0	110.0	114.0					3																	35732402		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.591G>C	3.37:g.35732402G>C	ENSP00000187397:p.Met197Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.M197I	ENST00000187397.4	37	c.591	CCDS2661.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.943588|3.943588	0.73672|0.73672	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000425289|ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.|T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Single-stranded nucleic acid binding R3H (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52170	.|0.951;0.92;0.951	.|D;D;D	.|0.72625	.|0.973;0.978;0.973	T|T	0.74982|0.74982	-0.3478|-0.3478	5|10	.|0.87932	.|D	.|0	-19.6123|-19.6123	20.1421|20.1421	0.98061|0.98061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|197;197;197	.|Q9UBL0-3;Q9UBL0;Q9UBL0-4	.|.;ARP21_HUMAN;.	P|I	39|197	.|ENSP00000414351:M197I;ENSP00000337792:M197I;ENSP00000405276:M197I;ENSP00000187397:M197I;ENSP00000412326:M197I	.|ENSP00000187397:M197I	A|M	+|+	1|3	0|0	ARPP21|ARPP21	35707406|35707406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.327000|0.327000	0.28475|0.28475	9.715000|9.715000	0.98748|0.98748	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCT|ATG	ARPP21	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.368	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35732402	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP6V0A1	535	genome.wustl.edu	37	17	40672680	40672680	+	Intron	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:40672680G>T	ENST00000343619.4	+	22	2543				ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000587797.1_Splice_Site|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCCCTTAGAGGTGGGCTGTGT	0.522																																																	0																																										SO:0001627	intron_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2421-365G>T	17.37:g.40672680G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	Splice_Site	SNP	-	NULL	ENST00000343619.4	37	c.NULL	CCDS45684.1	17																																																																																			ATP6V0A1	-	-		0.522	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	G	NM_001130020		40672680	+1	no_errors	ENST00000587797	ensembl	human	known	70_37	splice_site	SNP	0.001	T
BAP1	8314	genome.wustl.edu	37	3	52439883	52439883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:52439883G>A	ENST00000460680.1	-	10	1300	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q259*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	188					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGACTCTTGAGACTTGTGG	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													70.0	69.0	69.0					3																	52439883		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.829C>T	3.37:g.52439883G>A	ENSP00000417132:p.Gln277*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.Q277*	ENST00000460680.1	37	c.829	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790313	0.90367	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.166976	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.9603	14.293	0.66292	0.0:0.0:0.8514:0.1486	.	.	.	.	X	277;259	.	ENSP00000296288:Q259X	Q	-	1	0	BAP1	52414923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.663000	0.90544	0.561000	0.74099	CAA	BAP1	-	NULL		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52439883	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BCLAF1	9774	genome.wustl.edu	37	6	136599126	136599126	+	Missense_Mutation	SNP	C	C	T	rs140335385	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:136599126C>T	ENST00000531224.1	-	4	1145	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R296Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R298Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R296Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R296Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R298Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	298					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTTCTTCGTGAAGGGAT	0.468																																					Colon(142;1534 1789 5427 7063 28491)												0								C	GLN/ARG,GLN/ARG,GLN/ARG	4,4402	4.2+/-10.8	0,4,2199	85.0	76.0	79.0		887,893,893	5.8	1.0	6	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	43,43,43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	296/870,298/748,298/921	136599126	4,13002	2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.893G>A	6.37:g.136599126C>T	ENSP00000435210:p.Arg298Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.R298Q	ENST00000531224.1	37	c.893	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758122	0.69648	9.08E-4	0.0	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000043	T	0.13030	0.0316	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.67145	0.992;0.996;0.992;0.992	P;P;P;P	0.50570	0.492;0.644;0.492;0.492	T	0.02417	-1.1162	10	0.38643	T	0.18	-5.3281	20.1012	0.97876	0.0:1.0:0.0:0.0	.	296;296;298;298	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Q	298;296;298;298;296;296;298	ENSP00000435210:R298Q;ENSP00000229446:R296Q;ENSP00000435441:R298Q;ENSP00000436501:R298Q;ENSP00000434826:R296Q;ENSP00000376159:R296Q;ENSP00000431734:R298Q	ENSP00000229446:R296Q	R	-	2	0	BCLAF1	136640819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.613000	0.67688	2.754000	0.94517	0.650000	0.86243	CGA	BCLAF1	-	NULL		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	C	NM_014739		136599126	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	T
BICD1	636	genome.wustl.edu	37	12	32481347	32481347	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:32481347G>C	ENST00000281474.5	+	5	2061	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T	BICD1_ENST00000548411.1_Missense_Mutation_p.R653T	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	653					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCTCGTCAAAGAGCAGCGGCT	0.493																																																	0													86.0	91.0	89.0					12																	32481347		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1958G>C	12.37:g.32481347G>C	ENSP00000281474:p.Arg653Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.R653T	ENST00000281474.5	37	c.1958	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737323	0.69304	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.55588	0.51;0.51	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.74881	2.28	0.80722	D	1	P;P	0.49559	0.775;0.925	B;P	0.48270	0.306;0.572	T	0.59542	-0.7435	10	0.14252	T	0.57	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	653;653	F8W113;Q96G01	.;BICD1_HUMAN	T	653	ENSP00000446793:R653T;ENSP00000281474:R653T	ENSP00000281474:R653T	R	+	2	0	BICD1	32372614	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.611000	0.98342	2.333000	0.79357	0.655000	0.94253	AGA	BICD1	-	pfam_Bicaudal-D_microtubule-assoc		0.493	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	G	NM_001714		32481347	+1	no_errors	ENST00000281474	ensembl	human	known	70_37	missense	SNP	1.000	C
C14orf37	145407	genome.wustl.edu	37	14	58605832	58605832	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:58605832G>A	ENST00000267485.7	-	2	439	c.245C>T	c.(244-246)tCg>tTg	p.S82L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	82						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGATGTTGCCGATGGTACTGC	0.458																																																	0													187.0	182.0	183.0					14																	58605832		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.245C>T	14.37:g.58605832G>A	ENSP00000267485:p.Ser82Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.S82L	ENST00000267485.7	37	c.245	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031506	0.35797	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.36878	1.23	5.82	3.06	0.35304	.	0.325666	0.26812	N	0.022376	T	0.32852	0.0843	M	0.64997	1.995	0.09310	N	0.999999	B;B;B;B	0.26081	0.016;0.141;0.016;0.016	B;B;B;B	0.16722	0.011;0.016;0.011;0.011	T	0.24693	-1.0153	10	0.54805	T	0.06	-3.9066	9.2253	0.37402	0.2241:0.0:0.7759:0.0	.	120;82;82;82	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	82;120	ENSP00000267485:S82L	ENSP00000267485:S82L	S	-	2	0	C14orf37	57675585	1.000000	0.71417	0.153000	0.22517	0.018000	0.09664	2.862000	0.48388	0.410000	0.25675	-0.700000	0.03674	TCG	C14orf37	-	NULL		0.458	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605832	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.263	A
C16orf82	162083	genome.wustl.edu	37	16	27080038	27080038	+	lincRNA	DEL	T	T	-	rs545877844|rs369091781		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:27080038delT	ENST00000505035.1	+	0	2011				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCAAGCGTCCTTTTTTTTTTT	0.478																																																	0																																												162083			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27080038delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGC2|Q8NEF0	RNA	DEL	-	NULL	ENST00000505035.1	37	NULL		16																																																																																			C16orf82	-	-		0.478	C16orf82-001	KNOWN	basic	lincRNA	C16orf82	HGNC	lincRNA	OTTHUMT00000366634.1	T	NM_001145545		27080038	+1	no_errors	ENST00000418886	ensembl	human	known	70_37	rna	DEL	0.000	-
C1orf50	79078	genome.wustl.edu	37	1	43239085	43239085	+	Intron	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:43239085G>C	ENST00000372525.5	+	3	238				RP5-994D16.9_ENST00000447572.1_RNA|C1orf50_ENST00000536543.1_Intron|C1orf50_ENST00000468913.2_Intron	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50											large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				tggggcctcggatgagtggga	0.468																																																	0																																										SO:0001627	intron_variant	79078			BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.196-149G>C	1.37:g.43239085G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000372525.5	37	NULL	CCDS473.1	1																																																																																			C1orf50	-	-		0.468	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf50	HGNC	protein_coding	OTTHUMT00000020001.2	G	NM_024097		43239085	+1	no_errors	ENST00000494155	ensembl	human	known	70_37	rna	SNP	0.002	C
C4orf36	132989	genome.wustl.edu	37	4	87809368	87809368	+	Silent	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:87809368G>T	ENST00000473559.1	-	6	789	c.126C>A	c.(124-126)atC>atA	p.I42I	C4orf36_ENST00000295898.3_Silent_p.I42I|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	42										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AAGGCAACTTGATATTGGCTA	0.398																																																	0													102.0	98.0	99.0					4																	87809368		2203	4300	6503	SO:0001819	synonymous_variant	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.126C>A	4.37:g.87809368G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.I42	ENST00000473559.1	37	c.126	CCDS3615.1	4																																																																																			C4orf36	-	NULL		0.398	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	G	NM_144645		87809368	-1	no_errors	ENST00000295898	ensembl	human	known	70_37	silent	SNP	0.001	T
CBX1	10951	genome.wustl.edu	37	17	46148890	46148890	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:46148890C>T	ENST00000393408.3	-	5	945	c.465G>A	c.(463-465)aaG>aaA	p.K155K	CBX1_ENST00000225603.4_Silent_p.K155K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	155	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCTGTGGGCACTTGACATTGG	0.488																																					NSCLC(136;694 2497 38792 39034)												0													102.0	78.0	86.0					17																	46148890		2203	4300	6503	SO:0001819	synonymous_variant	10951			U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.465G>A	17.37:g.46148890C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P23197	Silent	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.K155	ENST00000393408.3	37	c.465	CCDS11525.1	17																																																																																			CBX1	-	pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.488	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBX1	HGNC	protein_coding	OTTHUMT00000318016.1	C	NM_006807		46148890	-1	no_errors	ENST00000225603	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC141	285025	genome.wustl.edu	37	2	179912014	179912014	+	Silent	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:179912014G>C	ENST00000409284.1	-	2	339	c.222C>G	c.(220-222)ctC>ctG	p.L74L	CCDC141_ENST00000420890.2_Silent_p.L74L			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	74										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCTTACCTTGAGCTTGGCCA	0.378																																																	0																																										SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.222C>G	2.37:g.179912014G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L74	ENST00000409284.1	37	c.222		2																																																																																			CCDC141	-	pfam_Spectrin_repeat		0.378	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	HGNC	protein_coding	OTTHUMT00000335873.1	G	NM_173648		179912014	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	silent	SNP	1.000	C
CCDC22	28952	genome.wustl.edu	37	X	49104953	49104953	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:49104953G>A	ENST00000376227.3	+	11	1468	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	433										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCTGAGTACCGCCACCTCCGA	0.662																																																	0													30.0	26.0	27.0					X																	49104953		2200	4299	6499	SO:0001583	missense	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1298G>A	X.37:g.49104953G>A	ENSP00000365401:p.Arg433His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.R433H	ENST00000376227.3	37	c.1298	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878249	0.91664	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82768	-0.0294	9	0.87932	D	0	-9.8513	16.5047	0.84268	0.0:0.0:1.0:0.0	.	433	O60826	CCD22_HUMAN	H	433	.	ENSP00000365401:R433H	R	+	2	0	CCDC22	48991897	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.301000	0.89951	2.240000	0.73641	0.436000	0.28706	CGC	CCDC22	-	pfam_DUF812		0.662	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	G	NM_014008		49104953	+1	no_errors	ENST00000376227	ensembl	human	known	70_37	missense	SNP	1.000	A
CCNC	892	genome.wustl.edu	37	6	99997423	99997423	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:99997423C>G	ENST00000520429.1	-	9	1004	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCNC_ENST00000518714.1_Missense_Mutation_p.D187H|CCNC_ENST00000523799.1_Missense_Mutation_p.D102H|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Missense_Mutation_p.D186H|CCNC_ENST00000523985.1_Missense_Mutation_p.D102H|CCNC_ENST00000520371.1_Missense_Mutation_p.D187H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	187					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGCAAAGATCCGTTCTGTAG	0.348																																					GBM(57;273 1020 40094 44454 49348)												0													120.0	103.0	109.0					6																	99997423		2203	4299	6502	SO:0001583	missense	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.559G>C	6.37:g.99997423C>G	ENSP00000428982:p.Asp187His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H	p.D187H	ENST00000520429.1	37	c.559	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123471	0.77436	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.36699	1.61;1.61;1.61;1.24;1.26;1.24;1.61;1.29	5.25	4.38	0.52667	Cyclin-like (2);	0.049283	0.85682	D	0.000000	T	0.58466	0.2124	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69355	-0.5167	9	.	.	.	-9.743	14.1661	0.65477	0.0:0.9274:0.0:0.0726	.	187;187	Q7Z4L3;P24863	.;CCNC_HUMAN	H	187;186;187;102;133;102;187;102	ENSP00000428982:D187H;ENSP00000358222:D186H;ENSP00000430381:D187H;ENSP00000430014:D102H;ENSP00000430077:D133H;ENSP00000430119:D102H;ENSP00000430294:D187H;ENSP00000427885:D102H	.	D	-	1	0	CCNC	100104144	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.669000	0.83911	1.343000	0.45638	-0.140000	0.14226	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H		0.348	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	C	NM_005190		99997423	-1	no_errors	ENST00000520429	ensembl	human	known	70_37	missense	SNP	1.000	G
CCNC	892	genome.wustl.edu	37	6	99997438	99997438	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:99997438C>T	ENST00000520429.1	-	9	989	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CCNC_ENST00000518714.1_Missense_Mutation_p.D182N|CCNC_ENST00000523799.1_Missense_Mutation_p.D97N|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Missense_Mutation_p.D181N|CCNC_ENST00000523985.1_Missense_Mutation_p.D97N|CCNC_ENST00000520371.1_Missense_Mutation_p.D182N	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	182					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTGTAGGTATCATTCACTATC	0.363																																					GBM(57;273 1020 40094 44454 49348)												0													108.0	93.0	98.0					6																	99997438		2203	4300	6503	SO:0001583	missense	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.544G>A	6.37:g.99997438C>T	ENSP00000428982:p.Asp182Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H	p.D182N	ENST00000520429.1	37	c.544	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.314125	0.95655	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049	T;T;T;T;T;T;T;T	0.55760	0.97;0.89;0.98;0.5;0.57;0.5;0.98;0.57	5.25	5.25	0.73442	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84859	0.0818	9	.	.	.	-10.2594	19.2018	0.93714	0.0:1.0:0.0:0.0	.	182;182	Q7Z4L3;P24863	.;CCNC_HUMAN	N	182;181;182;97;128;97;182;97	ENSP00000428982:D182N;ENSP00000358222:D181N;ENSP00000430381:D182N;ENSP00000430014:D97N;ENSP00000430077:D128N;ENSP00000430119:D97N;ENSP00000430294:D182N;ENSP00000427885:D97N	.	D	-	1	0	CCNC	100104159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.602000	0.87976	0.655000	0.94253	GAT	CCNC	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H		0.363	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2	C	NM_005190		99997438	-1	no_errors	ENST00000520429	ensembl	human	known	70_37	missense	SNP	1.000	T
CD99	4267	genome.wustl.edu	37	X	2638398	2638398	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:2638398C>T	ENST00000381192.3	+	5	377	c.195C>T	c.(193-195)gaC>gaT	p.D65D	CD99_ENST00000381184.1_Splice_Site_p.D65D|CD99_ENST00000381187.3_Splice_Site_p.D49D|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	65					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CACAAACAGACGACCCACGAC	0.468																																																	0								T	,	4,4402		0,4,2199	411.0	413.0	412.0		147,195	-2.0	0.0	X	dbSNP_134	412	1,8591		0,1,4295	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CD99	NM_001122898.1,NM_002414.3	,	0,5,6494	TT,TC,CC		0.0116,0.0908,0.0385	,	49/170,65/186	2638398	5,12993	2203	4296	6499	SO:0001630	splice_region_variant	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.194-1C>T	X.37:g.2638398C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIW1|O00518|Q6ICV7	Silent	SNP	pfam_CD99L2	p.D65	ENST00000381192.3	37	c.195	CCDS14119.1	X																																																																																			CD99	-	pfam_CD99L2		0.468	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	C	NM_001122898	Silent	2638398	+1	no_errors	ENST00000381192	ensembl	human	known	70_37	silent	SNP	0.013	T
CDH5	1003	genome.wustl.edu	37	16	66424396	66424396	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:66424396G>A	ENST00000341529.3	+	6	1020	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	CDH5_ENST00000563425.2_Missense_Mutation_p.R291Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCCAGAACCGGATGACCAAG	0.552																																																	0													85.0	79.0	81.0					16																	66424396		2201	4300	6501	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.872G>A	16.37:g.66424396G>A	ENSP00000344115:p.Arg291Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R291Q	ENST00000341529.3	37	c.872	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852964	0.51270	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.37584	1.19	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.50514	0.1620	L	0.48642	1.525	0.80722	D	1	D	0.61080	0.989	P	0.57720	0.826	T	0.45775	-0.9238	9	0.72032	D	0.01	.	17.8559	0.88762	0.0:0.0:1.0:0.0	.	291	P33151	CADH5_HUMAN	Q	291;291;32	ENSP00000344115:R291Q	ENSP00000344115:R291Q	R	+	2	0	CDH5	64981897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.196000	0.65136	2.894000	0.99253	0.655000	0.94253	CGG	CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1	G	NM_001795		66424396	+1	no_errors	ENST00000341529	ensembl	human	known	70_37	missense	SNP	1.000	A
CENPI	2491	genome.wustl.edu	37	X	100356281	100356281	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:100356281G>A	ENST00000372927.1	+	2	499	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CENPI_ENST00000218507.5_Silent_p.E74E|CENPI_ENST00000423383.1_Silent_p.E74E|CENPI_ENST00000372926.1_Silent_p.E74E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	74					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GATATTTTGAGAAAGGTAAAG	0.328																																																	0													142.0	128.0	133.0					X																	100356281		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.222G>A	X.37:g.100356281G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JWZ9|Q96ED0	Silent	SNP	pfam_Centromere_CenpI	p.E74	ENST00000372927.1	37	c.222	CCDS14479.1	X																																																																																			CENPI	-	pfam_Centromere_CenpI		0.328	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	G	NM_006733		100356281	+1	no_errors	ENST00000372927	ensembl	human	known	70_37	silent	SNP	1.000	A
CLDN16	10686	genome.wustl.edu	37	3	190106178	190106178	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:190106178G>T	ENST00000264734.2	+	1	518	c.270G>T	c.(268-270)ttG>ttT	p.L90F	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.L90F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	90					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGGGTTTTTGATTGTGGCCA	0.483																																																	0													301.0	275.0	284.0					3																	190106178		2203	4300	6503	SO:0001583	missense	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.270G>T	3.37:g.190106178G>T	ENSP00000264734:p.Leu90Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.L90F	ENST00000264734.2	37	c.270	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684497	0.68157	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.95853	-3.19;-3.83	5.91	5.03	0.67393	.	0.000000	0.56097	D	0.000040	D	0.97201	0.9085	M	0.80746	2.51	0.43613	D	0.995988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96744	0.9549	10	0.72032	D	0.01	-17.152	10.0004	0.41924	0.0892:0.0:0.9108:0.0	.	90;90	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	F	90	ENSP00000264734:L90F;ENSP00000414136:L90F	ENSP00000264734:L90F	L	+	3	2	CLDN16	191588872	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.215000	0.42862	2.805000	0.96524	0.460000	0.39030	TTG	CLDN16	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16		0.483	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	G	NM_006580		190106178	+1	no_errors	ENST00000264734	ensembl	human	known	70_37	missense	SNP	1.000	T
CRHBP	1393	genome.wustl.edu	37	5	76251689	76251689	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:76251689G>A	ENST00000274368.4	+	4	966		c.e4+1		CRHBP_ENST00000506501.1_Splice_Site	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein						behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AACCTCTTTCGTAAGTGTTCT	0.408																																																	0													73.0	63.0	67.0					5																	76251689		2203	4300	6503	SO:0001630	splice_region_variant	1393			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.544+1G>A	5.37:g.76251689G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53F32|Q6FHT5	Splice_Site	SNP	-	e4+1	ENST00000274368.4	37	c.544+1	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228816	0.79576	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRHBP	76287445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	2.388000	0.81334	0.655000	0.94253	.	CRHBP	-	-		0.408	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	G	NM_001882	Intron	76251689	+1	no_errors	ENST00000274368	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CSPG4P5	114817	genome.wustl.edu	37	15	84957359	84957359	+	RNA	SNP	T	T	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr15:84957359T>C	ENST00000558801.1	-	0	7370									DNM1 pseudogene 51																		CCAGCTGGTCTCTTCTGATCT	0.597																																																	0																																												114817					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957359T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			CSPG4P5	-	-		0.597	DNM1P51-001	KNOWN	basic	processed_transcript	CSPG4P5	HGNC	pseudogene	OTTHUMT00000471721.1	T			84957359	-1	no_errors	ENST00000456932	ensembl	human	known	70_37	rna	SNP	0.953	C
CWC22	57703	genome.wustl.edu	37	2	180838465	180838465	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:180838465C>T	ENST00000410053.3	-	7	945	c.646G>A	c.(646-648)Gca>Aca	p.A216T	CWC22_ENST00000295749.6_Missense_Mutation_p.A216T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	216	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTAATGCTGCATAAACATGG	0.348																																																	0													69.0	64.0	66.0					2																	180838465		1838	4097	5935	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.646G>A	2.37:g.180838465C>T	ENSP00000387006:p.Ala216Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.A216T	ENST00000410053.3	37	c.646	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022849	0.75275	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.32988	1.43;1.43;1.43	5.52	4.59	0.56863	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.212364	0.49916	D	0.000139	T	0.52354	0.1729	M	0.90198	3.095	0.51767	D	0.999931	P	0.46020	0.871	P	0.51550	0.673	T	0.62124	-0.6920	10	0.87932	D	0	-10.7412	12.3049	0.54895	0.2908:0.7092:0.0:0.0	.	216	Q9HCG8	CWC22_HUMAN	T	216	ENSP00000387006:A216T;ENSP00000295749:A216T;ENSP00000384159:A216T	ENSP00000295749:A216T	A	-	1	0	CWC22	180546710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.655000	0.37345	2.589000	0.87451	0.650000	0.86243	GCA	CWC22	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.348	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	C	NM_020943		180838465	-1	no_errors	ENST00000295749	ensembl	human	known	70_37	missense	SNP	1.000	T
DCAF4L2	138009	genome.wustl.edu	37	8	88885653	88885653	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:88885653G>A	ENST00000319675.3	-	1	643	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	183										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGGCATCAGGGATCTGGAAA	0.577																																																	0													142.0	130.0	134.0					8																	88885653		2203	4300	6503	SO:0001583	missense	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.547C>T	8.37:g.88885653G>A	ENSP00000316496:p.Pro183Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P183S	ENST00000319675.3	37	c.547	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874873	0.17395	.	.	ENSG00000176566	ENST00000319675	T	0.69306	-0.39	1.39	-1.08	0.09936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.146557	0.64402	N	0.000005	T	0.43077	0.1231	L	0.29908	0.895	0.29656	N	0.843586	B	0.18013	0.025	B	0.25506	0.061	T	0.26849	-1.0091	10	0.09843	T	0.71	.	3.7564	0.08586	0.6358:0.0:0.3642:0.0	.	183	Q8NA75	DC4L2_HUMAN	S	183	ENSP00000316496:P183S	ENSP00000316496:P183S	P	-	1	0	DCAF4L2	88954769	1.000000	0.71417	0.012000	0.15200	0.083000	0.17756	2.418000	0.44662	-0.423000	0.07394	0.467000	0.42956	CCT	DCAF4L2	-	superfamily_WD40_repeat_dom		0.577	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88885653	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	missense	SNP	0.972	A
DHX38	9785	genome.wustl.edu	37	16	72137934	72137934	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:72137934C>T	ENST00000268482.3	+	14	2423	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577																																					Melanoma(97;711 1442 7855 13832 28836)												0													117.0	106.0	109.0					16																	72137934		2198	4300	6498	SO:0001819	synonymous_variant	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1914C>T	16.37:g.72137934C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L638	ENST00000268482.3	37	c.1914	CCDS10907.1	16																																																																																			DHX38	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72137934	+1	no_errors	ENST00000268482	ensembl	human	known	70_37	silent	SNP	0.998	T
DMD	1756	genome.wustl.edu	37	X	32459402	32459402	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:32459402C>A	ENST00000357033.4	-	28	4022	c.3816G>T	c.(3814-3816)ttG>ttT	p.L1272F	DMD_ENST00000378677.2_Missense_Mutation_p.L1268F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1272					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAAGTATGACAATAACTCAT	0.343																																																	0													73.0	74.0	73.0					X																	32459402		2201	4299	6500	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3816G>T	X.37:g.32459402C>A	ENSP00000354923:p.Leu1272Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L1272F	ENST00000357033.4	37	c.3816	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269402	0.59540	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.18810	2.19;2.19	5.06	3.17	0.36434	.	0.000000	0.29040	U	0.013334	T	0.37705	0.1013	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.987	D;D;P	0.85130	0.914;0.997;0.823	T	0.16424	-1.0403	10	0.28530	T	0.3	.	4.9194	0.13862	0.0:0.5936:0.1646:0.2418	.	1264;1272;1268	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	F	1264;1268;1272;1272;1149	ENSP00000367948:L1268F;ENSP00000354923:L1272F	ENSP00000354923:L1272F	L	-	3	2	DMD	32369323	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.032000	0.30178	2.081000	0.62600	0.600000	0.82982	TTG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32459402	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	0.999	A
DOCK11	139818	genome.wustl.edu	37	X	117739291	117739292	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:117739291_117739292GA>AT	ENST00000276202.7	+	24	2716_2717	c.2653_2654GA>AT	c.(2653-2655)GAa>ATa	p.E885I	DOCK11_ENST00000276204.6_Missense_Mutation_p.E885I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	885					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGACCCATGAAGATGACGTT	0.342																																																	0																																										SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	Exception_encountered	X.37:g.117739291_117739292delinsAT	ENSP00000276202:p.Glu885Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E885K|p.E885V	ENST00000276202.7	37	c.2653|c.2654	CCDS35373.1	X																																																																																			DOCK11	-	NULL		0.342	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G|A	NM_144658		117739291|117739292	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A|T
DPP4	1803	genome.wustl.edu	37	2	162851875	162851875	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:162851875G>T	ENST00000360534.3	-	24	2620	c.2060C>A	c.(2059-2061)aCa>aAa	p.T687K	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	687					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GCTCATGACTGTTGAATTCTG	0.328																																																	0													112.0	112.0	112.0					2																	162851875		2203	4300	6503	SO:0001583	missense	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2060C>A	2.37:g.162851875G>T	ENSP00000353731:p.Thr687Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.T687K	ENST00000360534.3	37	c.2060	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006945	0.74932	.	.	ENSG00000197635	ENST00000360534	T	0.27402	1.67	5.74	5.74	0.90152	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.048752	0.85682	D	0.000000	T	0.50752	0.1634	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37686	-0.9695	10	0.45353	T	0.12	-16.5264	19.9248	0.97099	0.0:0.0:1.0:0.0	.	687	P27487	DPP4_HUMAN	K	687	ENSP00000353731:T687K	ENSP00000353731:T687K	T	-	2	0	DPP4	162560121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.194000	0.94962	2.683000	0.91414	0.655000	0.94253	ACA	DPP4	-	pfam_Peptidase_S9		0.328	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	G			162851875	-1	no_errors	ENST00000360534	ensembl	human	known	70_37	missense	SNP	1.000	T
DSCAM	1826	genome.wustl.edu	37	21	41561046	41561046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr21:41561046G>A	ENST00000400454.1	-	12	2953	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	826	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTAATGATTCGGTCCTCCTTC	0.512																																					Melanoma(134;970 1778 1785 21664 32388)												0													135.0	137.0	136.0					21																	41561046		2011	4159	6170	SO:0001587	stop_gained	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2476C>T	21.37:g.41561046G>A	ENSP00000383303:p.Arg826*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60468	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R826*	ENST00000400454.1	37	c.2476	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	38	7.072296	0.98044	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.165	0.14995	.	0.066294	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	16.4875	0.84188	0.0:0.0:0.4542:0.5458	.	.	.	.	X	826;578	.	ENSP00000383303:R826X	R	-	1	2	DSCAM	40482916	0.985000	0.35326	0.988000	0.46212	0.981000	0.71138	1.248000	0.32827	0.072000	0.16694	0.561000	0.74099	CGA	DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41561046	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	nonsense	SNP	0.845	A
CRACR2B	283229	genome.wustl.edu	37	11	828915	828915	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:828915C>T	ENST00000525077.1	+	2	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R77W|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_Missense_Mutation_p.R77W			Q8N4Y2	EFC4A_HUMAN		77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in dbSNP:rs7126805). {ECO:0000269|PubMed:15489334}.		cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCTGGACCGGGCTCACAC	0.657																																																	0													73.0	81.0	79.0					11																	828915		2062	4195	6257	SO:0001583	missense	283229																														ENST00000525077.1:c.229C>T	11.37:g.828915C>T	ENSP00000435299:p.Arg77Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D5LPR2|Q8NBW8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R77W	ENST00000525077.1	37	c.229		11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391451	0.83011	.	.	ENSG00000177685	ENST00000533803;ENST00000527089;ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.49	3.5	0.40072	EF-hand-like domain (1);	0.165886	0.39274	U	0.001412	T	0.35068	0.0919	N	0.19112	0.55	0.26701	N	0.971163	D;D;P	0.71674	0.998;0.99;0.95	P;P;B	0.50570	0.644;0.631;0.406	T	0.17440	-1.0369	10	0.66056	D	0.02	.	10.9026	0.47059	0.1886:0.8114:0.0:0.0	.	77;77;77	E7EWX3;Q8N4Y2-3;Q8N4Y2	.;.;EFC4A_HUMAN	W	77	ENSP00000433602:R77W;ENSP00000432726:R77W;ENSP00000432334:R77W;ENSP00000409256:R77W;ENSP00000435299:R77W	ENSP00000324024:R77W	R	+	1	2	EFCAB4A	818915	0.998000	0.40836	0.996000	0.52242	0.926000	0.56050	1.401000	0.34589	2.057000	0.61298	0.491000	0.48974	CGG	EFCAB4A	-	pfscan_EF_HAND_2		0.657	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	C			828915	+1	no_errors	ENST00000450448	ensembl	human	known	70_37	missense	SNP	0.981	T
EIF2AK1	27102	genome.wustl.edu	37	7	6094176	6094176	+	Splice_Site	SNP	C	C	T	rs148495208		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:6094176C>T	ENST00000199389.6	-	2	424		c.e2+1		RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_Splice_Site	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1						negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCTTACTTACGCTTAAACAC	0.478																																																	0								C	,	0,4406		0,0,2203	81.0	78.0	79.0		,	5.4	1.0	7	dbSNP_134	79	1,8599		0,1,4299	no	splice-5,splice-5	EIF2AK1	NM_001134335.1,NM_014413.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,	6094176	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.277+1G>A	7.37:g.6094176C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Splice_Site	SNP	-	e2+1	ENST00000199389.6	37	c.277+1	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702386	0.68501	0.0	1.16E-4	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000446699	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8081	0.92047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2AK1	6060702	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	5.636000	0.67848	2.542000	0.85734	0.561000	0.74099	.	EIF2AK1	-	-		0.478	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	C	NM_014413	Intron	6094176	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	splice_site	SNP	1.000	T
COL26A1	136227	genome.wustl.edu	37	7	101063332	101063332	+	RNA	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:101063332G>A	ENST00000397927.3	+	0	446				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GTGGTCCAGCGCGTGTACCAG	0.642																																																	0																																												136227			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063332G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M90	Missense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.R78H	ENST00000397927.3	37	c.233		7	.	.	.	.	.	.	.	.	.	.	G	32	5.162733	0.94727	.	.	ENSG00000160963	ENST00000313669	T	0.47177	0.85	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.32703	U	0.005741	T	0.63570	0.2522	L	0.49699	1.58	0.30198	N	0.79887	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.64841	-0.6312	10	0.87932	D	0	.	15.7219	0.77718	0.0:0.0:1.0:0.0	.	78;78	Q96A83;C9JPW4	EMID2_HUMAN;.	H	78	ENSP00000318234:R78H	ENSP00000318234:R78H	R	+	2	0	EMID2	100850052	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.127000	0.94417	2.310000	0.77875	0.558000	0.71614	CGC	EMID2	-	pfam_EMI_domain,pfscan_EMI_domain		0.642	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	G	NM_133457		101063332	+1	no_errors	ENST00000313669	ensembl	human	known	70_37	missense	SNP	0.999	A
EML5	161436	genome.wustl.edu	37	14	89083219	89083219	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:89083219G>T	ENST00000380664.5	-	40	5622	c.5623C>A	c.(5623-5625)Cta>Ata	p.L1875I	EML5_ENST00000352093.5_Missense_Mutation_p.L1837I|EML5_ENST00000554922.1_Missense_Mutation_p.L1883I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1875						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCTCCTAGAATACTAGAG	0.418																																																	0													85.0	82.0	83.0					14																	89083219		1900	4126	6026	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5623C>A	14.37:g.89083219G>T	ENSP00000370039:p.Leu1875Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1883I	ENST00000380664.5	37	c.5647	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946260	0.53079	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.52754	0.89;0.65;0.93	5.26	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.58004	0.2092	M	0.74881	2.28	0.42075	D	0.991225	D	0.61080	0.989	P	0.56751	0.805	T	0.55648	-0.8108	10	0.37606	T	0.19	-7.7695	9.5922	0.39552	0.2354:0.0:0.7646:0.0	.	1875	Q05BV3	EMAL5_HUMAN	I	1883;1837;1875	ENSP00000451998:L1883I;ENSP00000298315:L1837I;ENSP00000370039:L1875I	ENSP00000298315:L1837I	L	-	1	2	EML5	88152972	1.000000	0.71417	0.994000	0.49952	0.353000	0.29299	4.436000	0.59948	0.268000	0.21939	-0.136000	0.14681	CTA	EML5	-	superfamily_WD40_repeat_dom		0.418	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89083219	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBB8P12	260334	genome.wustl.edu	37	18	47436	47436	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr18:47436G>A	ENST00000573909.1	-	3	1719	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	RP11-683L23.1_ENST00000594555.1_5'Flank|RP11-683L23.1_ENST00000308911.6_Missense_Mutation_p.A430V																							ctcctcctcGGCCGTGGCATC	0.537																																																	0																																										SO:0001583	missense	0																														ENST00000573909.1:c.1187C>T	18.37:g.47436G>A	ENSP00000459638:p.Ala396Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.A396V	ENST00000573909.1	37	c.1187		18	.	.	.	.	.	.	.	.	.	.	.	8.315	0.823025	0.16678	.	.	ENSG00000173213	ENST00000308911	T	0.73152	-0.72	0.149	0.149	0.14863	.	0.190282	0.31438	N	0.007643	T	0.68531	0.3011	.	.	.	0.26007	N	0.982043	.	.	.	.	.	.	T	0.71896	-0.4454	6	0.87932	D	0	.	6.0152	0.19598	5.0E-4:0.0:0.9995:0.0	.	.	.	.	V	430	ENSP00000309431:A430V	ENSP00000309431:A430V	A	-	2	0	RP11-683L23.1	37436	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	6.564000	0.73969	0.192000	0.20272	0.195000	0.17529	GCC	RP11-683L23.1	-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin		0.537	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding	OTTHUMT00000439819.1	G			47436	-1	no_errors	ENST00000573909	ensembl	human	putative	70_37	missense	SNP	1.000	A
RP1-274L7.1	0	genome.wustl.edu	37	X	129649757	129649757	+	lincRNA	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:129649757C>G	ENST00000458525.1	-	0	273																											CAGTTTCTTTCAAAGTCTAAT	0.303																																																	0																																												0																															X.37:g.129649757C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			RP1-274L7.1	-	-		0.303	RP1-274L7.1-001	KNOWN	basic	lincRNA	ENSG00000229702	Clone_based_vega_gene	lincRNA	OTTHUMT00000058271.1	C			129649757	-1	no_errors	ENST00000458525	ensembl	human	known	70_37	rna	SNP	0.977	G
GOLGA8CP	729786	genome.wustl.edu	37	15	20776282	20776282	+	RNA	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr15:20776282C>T	ENST00000408427.1	+	0	0				RN7SL759P_ENST00000485130.2_RNA																							AACAGCTGGTCATtatactaa	0.562																																																	0																																												0																															15.37:g.20776282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408427.1	37	NULL		15																																																																																			Metazoa_SRP	-	-		0.562	AC131280.1-201	NOVEL	basic	miRNA	ENSG00000242443	RFAM	miRNA		C			20776282	+1	no_errors	ENST00000485130	ensembl	human	novel	70_37	rna	SNP	0.001	T
KIAA1147	57189	genome.wustl.edu	37	7	141356441	141356441	+	IGR	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:141356441C>T	ENST00000536163.1	-	0	7296				RP5-894A10.2_ENST00000467537.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147											breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCAGCCCCCACAGGCTCTG	0.512																																																	0																																										SO:0001628	intergenic_variant	0			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539		7.37:g.141356441C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULS3	RNA	SNP	-	NULL	ENST00000536163.1	37	NULL	CCDS47726.1	7																																																																																			RP5-894A10.2	-	-		0.512	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244701	Clone_based_vega_gene	protein_coding	OTTHUMT00000349104.1	C			141356441	-1	no_errors	ENST00000467537	ensembl	human	putative	70_37	rna	SNP	0.000	T
TMEM5-AS1	104169670	genome.wustl.edu	37	12	64215870	64215870	+	RNA	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:64215870G>A	ENST00000546214.1	-	0	66									TMEM5 antisense RNA 1																		TGACCGAGGCGATGCTCTACA	0.642																																																	0																																												0			DB026756		12q14.2	2013-07-04			ENSG00000255850	ENSG00000255850		"""Long non-coding RNAs"""	48910	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000168731		12.37:g.64215870G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000546214.1	37	NULL		12																																																																																			RP11-415I12.5	-	-		0.642	TMEM5-AS1-001	KNOWN	basic	antisense	ENSG00000255850	Clone_based_vega_gene	antisense	OTTHUMT00000400829.1	G			64215870	-1	no_errors	ENST00000546214	ensembl	human	known	70_37	rna	SNP	0.854	A
ERF	2077	genome.wustl.edu	37	19	42752751	42752751	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:42752751C>G	ENST00000222329.4	-	4	1670	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.E430Q	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	505					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCCTCATCCTCAAAGCCCCCA	0.682																																																	0													31.0	38.0	36.0					19																	42752751		2202	4290	6492	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1513G>C	19.37:g.42752751C>G	ENSP00000222329:p.Glu505Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E505Q	ENST00000222329.4	37	c.1513	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977294	0.18812	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.18016	3.24;2.24	4.39	4.39	0.52855	.	1.632570	0.03450	N	0.210471	T	0.10680	0.0261	N	0.08118	0	0.23906	N	0.996504	B	0.23650	0.089	B	0.15870	0.014	T	0.06463	-1.0825	10	0.54805	T	0.06	.	6.4048	0.21658	0.0:0.7145:0.1872:0.0982	.	505	P50548	ERF_HUMAN	Q	505;430	ENSP00000222329:E505Q;ENSP00000388173:E430Q	ENSP00000222329:E505Q	E	-	1	0	ERF	47444591	0.977000	0.34250	0.991000	0.47740	0.940000	0.58332	3.770000	0.55310	2.448000	0.82819	0.561000	0.74099	GAG	ERF	-	NULL		0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42752751	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	0.849	G
ERI3	79033	genome.wustl.edu	37	1	44778898	44778898	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:44778898G>A	ENST00000372257.2	-	5	790	c.609C>T	c.(607-609)ctC>ctT	p.L203L	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000372259.5_Silent_p.L88L|ERI3_ENST00000537474.1_Silent_p.L26L	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	203	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATCCCGGTGAGCTGAAAGG	0.502																																																	0													77.0	77.0	77.0					1																	44778898		2203	4300	6503	SO:0001819	synonymous_variant	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.609C>T	1.37:g.44778898G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L203	ENST00000372257.2	37	c.609	CCDS30696.1	1																																																																																			ERI3	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.502	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	G	NM_024066		44778898	-1	no_errors	ENST00000372257	ensembl	human	known	70_37	silent	SNP	0.999	A
FBXL18	80028	genome.wustl.edu	37	7	5540978	5540978	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:5540978G>T	ENST00000382368.3	-	3	1045	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	FBXL18_ENST00000453700.3_Missense_Mutation_p.L308M	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	308									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ATGTGCTGCAGGAGGGAAGAG	0.597																																																	0													45.0	52.0	49.0					7																	5540978		2114	4229	6343	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.922C>A	7.37:g.5540978G>T	ENSP00000371805:p.Leu308Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L308M	ENST00000382368.3	37	c.922	CCDS43546.1	7	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360249	0.41801	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.49720	0.8;0.77	5.13	5.13	0.70059	.	0.305531	0.33895	N	0.004458	T	0.56292	0.1975	L	0.27053	0.805	0.19575	N	0.999969	D;D	0.71674	0.998;0.998	D;D	0.65443	0.935;0.935	T	0.54193	-0.8330	10	0.72032	D	0.01	.	17.9236	0.88975	0.0:0.0:1.0:0.0	.	308;308	F5H4Z4;Q96ME1-4	.;.	M	308	ENSP00000371805:L308M;ENSP00000444797:L308M	ENSP00000311990:L308M	L	-	1	2	FBXL18	5507504	1.000000	0.71417	0.173000	0.22940	0.957000	0.61999	4.201000	0.58439	2.553000	0.86117	0.650000	0.86243	CTG	FBXL18	-	NULL		0.597	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	G	NM_024963		5540978	-1	no_errors	ENST00000453700	ensembl	human	known	70_37	missense	SNP	0.217	T
FBXO24	26261	genome.wustl.edu	37	7	100192119	100192119	+	Missense_Mutation	SNP	G	G	A	rs372486506		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:100192119G>A	ENST00000241071.6	+	6	1229	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	FBXO24_ENST00000468962.1_Missense_Mutation_p.V291M|FBXO24_ENST00000427939.2_Missense_Mutation_p.V341M|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.V289M|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V289M	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	303					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCACCTGCGCGTGGCCTGCAT	0.597																																																	0								G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	100.0	73.0	82.0		871,1021,907	5.0	1.0	7		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	FBXO24	NM_001163499.1,NM_012172.4,NM_033506.2	21,21,21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	291/569,341/619,303/581	100192119	3,13003	2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.907G>A	7.37:g.100192119G>A	ENSP00000241071:p.Val303Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.V341M	ENST00000241071.6	37	c.1021	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501599	0.44455	2.27E-4	2.33E-4	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	D;T;T;D;D	0.83755	-1.76;0.47;0.47;-1.76;-1.76	5.03	5.03	0.67393	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.109891	0.40469	N	0.001096	T	0.72153	0.3425	N	0.08118	0	0.35511	D	0.800624	D;D;D;P	0.61697	0.99;0.99;0.99;0.621	P;P;P;B	0.49502	0.613;0.613;0.613;0.051	T	0.79557	-0.1754	10	0.62326	D	0.03	-11.8126	9.3513	0.38140	0.0952:0.0:0.9048:0.0	.	291;341;303;289	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	M	303;289;289;291;341	ENSP00000241071:V303M;ENSP00000353821:V289M;ENSP00000419602:V289M;ENSP00000420239:V291M;ENSP00000416558:V341M	ENSP00000241071:V303M	V	+	1	0	FBXO24	100030055	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	3.493000	0.53266	2.646000	0.89796	0.478000	0.44815	GTG	FBXO24	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.597	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	G			100192119	+1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	0.994	A
FCRL2	79368	genome.wustl.edu	37	1	157737271	157737271	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:157737271G>A	ENST00000361516.3	-	6	960	c.912C>T	c.(910-912)ctC>ctT	p.L304L	FCRL2_ENST00000392274.3_Silent_p.L304L|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.L51L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	304	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.L304L(1)|p.L51L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGAGACCTGAGGGTGAGGA	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											50.0	53.0	52.0					1																	157737271		2203	4300	6503	SO:0001819	synonymous_variant	79368			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.912C>T	1.37:g.157737271G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L304	ENST00000361516.3	37	c.912	CCDS1168.1	1																																																																																			FCRL2	-	pfscan_Ig-like		0.547	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	G	NM_030764		157737271	-1	no_errors	ENST00000361516	ensembl	human	known	70_37	silent	SNP	0.444	A
FSTL5	56884	genome.wustl.edu	37	4	162307436	162307436	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:162307436G>A	ENST00000306100.5	-	16	2443	c.2007C>T	c.(2005-2007)agC>agT	p.S669S	FSTL5_ENST00000427802.2_Silent_p.S659S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.S668S|FSTL5_ENST00000536695.1_Silent_p.S668S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	669						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S669R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGCTCCGGTGCTGTCAGGTT	0.478																																																	1	Substitution - Missense(1)	lung(1)											101.0	92.0	95.0					4																	162307436		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2007C>T	4.37:g.162307436G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.S669	ENST00000306100.5	37	c.2007	CCDS3802.1	4																																																																																			FSTL5	-	NULL		0.478	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	G	NM_020116		162307436	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	silent	SNP	1.000	A
GFI1B	8328	genome.wustl.edu	37	9	135865272	135865272	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:135865272G>A	ENST00000339463.3	+	10	1611	c.792G>A	c.(790-792)aaG>aaA	p.K264K	GFI1B_ENST00000372123.1_Silent_p.K218K|GFI1B_ENST00000534944.1_Silent_p.K218K|GFI1B_ENST00000372122.1_Silent_p.K264K|GFI1B_ENST00000372124.1_Silent_p.K218K|GFI1B_ENST00000450530.1_Silent_p.K264K			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	264	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGACATGAAGAAGCACACCT	0.617																																																	0													83.0	65.0	71.0					9																	135865272		2203	4300	6503	SO:0001819	synonymous_variant	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.792G>A	9.37:g.135865272G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K264	ENST00000339463.3	37	c.792	CCDS6957.1	9																																																																																			GFI1B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	HGNC	protein_coding	OTTHUMT00000393840.1	G	NM_004188		135865272	+1	no_errors	ENST00000339463	ensembl	human	known	70_37	silent	SNP	1.000	A
GPER1	2852	genome.wustl.edu	37	7	1131504	1131504	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:1131504G>T	ENST00000297469.3	+	2	831	c.140G>T	c.(139-141)gGt>gTt	p.G47V	C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.G47V|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.G47V|GPER1_ENST00000397092.1_Missense_Mutation_p.G47V	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	47				Missing (in Ref. 7; AAB02736). {ECO:0000305}.	apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										AATGGGACAGGTGAGCTCTCG	0.642																																																	0													128.0	104.0	112.0					7																	1131504		2203	4300	6503	SO:0001583	missense	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.140G>T	7.37:g.1131504G>T	ENSP00000297469:p.Gly47Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G47V	ENST00000297469.3	37	c.140	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688156	0.29962	.	.	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.68025	-0.3;0.82;-0.3;-0.3;-0.3	5.09	-0.86	0.10680	.	0.948534	0.08753	N	0.898893	T	0.46483	0.1395	N	0.19112	0.55	0.09310	N	0.999993	B	0.24823	0.112	B	0.22386	0.039	T	0.29761	-1.0001	10	0.34782	T	0.22	.	6.1989	0.20565	0.3539:0.4612:0.1849:0.0	.	47	Q99527	GPER_HUMAN	V	47	ENSP00000385151:G47V;ENSP00000410487:G47V;ENSP00000380281:G47V;ENSP00000297469:G47V;ENSP00000380277:G47V	ENSP00000297469:G47V	G	+	2	0	GPER	1098030	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.463000	0.21972	-0.055000	0.13244	-0.175000	0.13238	GGT	GPER	-	NULL		0.642	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	G	NM_001039966		1131504	+1	no_errors	ENST00000297469	ensembl	human	known	70_37	missense	SNP	0.000	T
GUCA1A	2978	genome.wustl.edu	37	6	42146128	42146128	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:42146128C>T	ENST00000394237.1	+	4	1288	c.312C>T	c.(310-312)aaC>aaT	p.N104N	GUCA1A_ENST00000053469.4_Silent_p.N104N|GUCA1A_ENST00000541991.1_Silent_p.N104N|GUCA1A_ENST00000372958.1_Silent_p.N104N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGATGGCAACGGCTGCATTG	0.602																																																	0			GRCh37	CM085455	GUCA1A	M							124.0	114.0	118.0					6																	42146128		2203	4300	6503	SO:0001819	synonymous_variant	2978				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.312C>T	6.37:g.42146128C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.N104	ENST00000394237.1	37	c.312	CCDS4864.1	6																																																																																			GUCA1A	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.602	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCA1A	HGNC	protein_coding	OTTHUMT00000316582.1	C			42146128	+1	no_errors	ENST00000053469	ensembl	human	known	70_37	silent	SNP	0.992	T
HECTD3	79654	genome.wustl.edu	37	1	45469790	45469790	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:45469790G>A	ENST00000372172.4	-	18	2360	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.F373F	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	763	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CAGATGGCTCGAAGTCCTCAA	0.582																																																	0													98.0	109.0	105.0					1																	45469790		2112	4227	6339	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2289C>T	1.37:g.45469790G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.F763	ENST00000372172.4	37	c.2289	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	G	NM_024602		45469790	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.995	A
H3F3A	3020	genome.wustl.edu	37	1	226252066	226252066	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:226252066A>T	ENST00000366813.1	+	1	389	c.14A>T	c.(13-15)aAg>aTg	p.K5M	RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366816.1_Missense_Mutation_p.K5M|H3F3A_ENST00000366815.3_Missense_Mutation_p.K5M|H3F3A_ENST00000366814.3_Missense_Mutation_p.K5M			P84243	H33_HUMAN	H3 histone, family 3A	5					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCTCGTACAAAGCAGACTGCC	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q42.12	3020	"""H3 histone, family 3A"""		O	0													31.0	33.0	32.0					1																	226252066		2202	4300	6502	SO:0001583	missense	3020			BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.14A>T	1.37:g.226252066A>T	ENSP00000355778:p.Lys5Met	Somatic	2311	WXS	Illumina HiSeq	Phase_IV	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.K5M	ENST00000366813.1	37	c.14	CCDS1550.1	1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049650	0.36181	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.217	D;B	0.83275	0.996;0.116	T	0.73490	-0.3966	9	0.87932	D	0	.	13.4389	0.61101	1.0:0.0:0.0:0.0	.	5;5	B4DEB1;P84243	.;H33_HUMAN	M	5	ENSP00000355781:K5M;ENSP00000355780:K5M;ENSP00000355779:K5M;ENSP00000355778:K5M	ENSP00000355778:K5M	K	+	2	0	H3F3A	224318689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.024000	0.93689	1.712000	0.51347	0.533000	0.62120	AAG	H3F3A	-	superfamily_Histone-fold,prints_Histone_H3		0.488	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3A	HGNC	protein_coding	OTTHUMT00000091324.1	A	NM_002107		226252066	+1	no_errors	ENST00000366813	ensembl	human	known	70_37	missense	SNP	1.000	T
HGF	3082	genome.wustl.edu	37	7	81392026	81392026	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:81392026C>T	ENST00000222390.5	-	2	477	c.251G>A	c.(250-252)tGc>tAc	p.C84Y	HGF_ENST00000444829.2_Missense_Mutation_p.C84Y|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Missense_Mutation_p.C84Y|HGF_ENST00000453411.1_Missense_Mutation_p.C84Y|HGF_ENST00000423064.2_Missense_Mutation_p.C84Y|HGF_ENST00000457544.2_Missense_Mutation_p.C84Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	84	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AACTTACTTGCAAGTGAATGG	0.308																																																	0													156.0	144.0	148.0					7																	81392026		2203	4297	6500	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.251G>A	7.37:g.81392026C>T	ENSP00000222390:p.Cys84Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.C84Y	ENST00000222390.5	37	c.251	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084261	0.76642	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-5.56;-5.56	5.72	5.72	0.89469	PAN-1 domain (1);Apple-like (2);	0.130260	0.64402	D	0.000001	D	0.99360	0.9775	M	0.72894	2.215	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;0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	119;84;84;84;84	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	Y	84	ENSP00000222390:C84Y;ENSP00000391238:C84Y;ENSP00000389854:C84Y;ENSP00000408270:C84Y;ENSP00000413829:C84Y;ENSP00000346164:C84Y;ENSP00000396307:C84Y;ENSP00000388592:C84Y	ENSP00000222390:C84Y	C	-	2	0	HGF	81229962	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.114000	0.64648	2.691000	0.91804	0.655000	0.94253	TGC	HGF	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app		0.308	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81392026	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185950148	185950148	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:185950148G>T	ENST00000271588.4	+	17	2834	c.2605G>T	c.(2605-2607)Gct>Tct	p.A869S	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.A869S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	869	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTTGTGAAGCTGAAAACCA	0.383																																																	0													159.0	165.0	163.0					1																	185950148		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2605G>T	1.37:g.185950148G>T	ENSP00000271588:p.Ala869Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.A869S	ENST00000271588.4	37	c.2605	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.430703	0.96150	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76578	-1.03;-1.03	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.80764	0.963;0.994	D	0.90862	0.4739	10	0.72032	D	0.01	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	253;869	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	S	869	ENSP00000271588:A869S;ENSP00000356462:A869S	ENSP00000271588:A869S	A	+	1	0	HMCN1	184216771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.756000	0.94617	0.655000	0.94253	GCT	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185950148	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	T
HOXD11	3237	genome.wustl.edu	37	2	176972090	176972090	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:176972090G>A	ENST00000249504.5	+	1	77	c.7G>A	c.(7-9)Gac>Aac	p.D3N	AC009336.1_ENST00000401374.2_RNA|HOXD11_ENST00000498438.1_Intron	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	3					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTCATGAACGACTTTGACGA	0.642			T	NUP98	AML																																			Dom	yes		2	2q31-q32	3237	homeo box D11		L	0													16.0	14.0	15.0					2																	176972090		2185	4262	6447	SO:0001583	missense	3237				CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.7G>A	2.37:g.176972090G>A	ENSP00000249504:p.Asp3Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIS4|Q9NS02	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D3N	ENST00000249504.5	37	c.7	CCDS2265.1	2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326064	0.60743	.	.	ENSG00000128713	ENST00000249504	D	0.94417	-3.42	3.75	3.75	0.43078	.	0.234278	0.21581	U	0.072245	D	0.90998	0.7169	L	0.52573	1.65	0.48135	D	0.999592	B	0.33379	0.41	B	0.20955	0.032	D	0.91235	0.5017	10	0.54805	T	0.06	.	15.3336	0.74234	0.0:0.0:1.0:0.0	.	3	P31277	HXD11_HUMAN	N	3	ENSP00000249504:D3N	ENSP00000249504:D3N	D	+	1	0	HOXD11	176680336	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.742000	0.91588	1.922000	0.55676	0.407000	0.27541	GAC	HOXD11	-	NULL		0.642	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD11	HGNC	protein_coding	OTTHUMT00000359250.2	G			176972090	+1	no_errors	ENST00000249504	ensembl	human	known	70_37	missense	SNP	1.000	A
IDS	3423	genome.wustl.edu	37	X	148585791	148585791	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:148585791C>T	ENST00000340855.6	-	2	345	c.136G>A	c.(136-138)Gac>Aac	p.D46N	IDS_ENST00000428056.2_Missense_Mutation_p.D46N|IDS_ENST00000370441.4_Missense_Mutation_p.D46N|IDS_ENST00000370443.4_Missense_Mutation_p.D46N|IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000422081.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	46					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)					GGGCGCAGGTCATCCACGATG	0.552																																																	0													84.0	56.0	65.0					X																	148585791		2203	4300	6503	SO:0001583	missense	3423			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	ENST00000340855.6:c.136G>A	X.37:g.148585791C>T	ENSP00000339801:p.Asp46Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D46N	ENST00000340855.6	37	c.136	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886927	0.91814	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99933	-8.24;-8.24;-8.24;-8.24;-4.62	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95455	0.8538	10	0.87932	D	0	.	15.4351	0.75140	0.0:1.0:0.0:0.0	.	46;46;46	O60597;P22304-2;P22304	.;.;IDS_HUMAN	N	46	ENSP00000339801:D46N;ENSP00000359470:D46N;ENSP00000359472:D46N;ENSP00000390241:D46N;ENSP00000429745:D46N	ENSP00000339801:D46N	D	-	1	0	IDS	148393695	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.186000	0.77722	1.824000	0.53156	0.436000	0.28706	GAC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.552	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148585791	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T
JAKMIP3	282973	genome.wustl.edu	37	10	133976858	133976858	+	Missense_Mutation	SNP	G	G	A	rs148025571		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:133976858G>A	ENST00000298622.4	+	19	2498	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	787						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTGAGCTGCGCGAGCGGGAC	0.687																																																	0								G	HIS/ARG	0,4406		0,0,2203	49.0	37.0	41.0		2360	3.8	1.0	10	dbSNP_134	41	1,8595	1.2+/-3.3	0,1,4297	no	missense	JAKMIP3	NM_001105521.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	787/845	133976858	1,13001	2203	4298	6501	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2360G>A	10.37:g.133976858G>A	ENSP00000298622:p.Arg787His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.R787H	ENST00000298622.4	37	c.2360	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.160086	0.94727	0.0	1.16E-4	ENSG00000188385	ENST00000298622	T	0.29655	1.56	3.77	3.77	0.43336	.	.	.	.	.	T	0.52869	0.1761	M	0.68317	2.08	0.49582	D	0.999802	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.54636	-0.8264	9	0.40728	T	0.16	.	16.1886	0.81971	0.0:0.0:1.0:0.0	.	224;787	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	H	787	ENSP00000298622:R787H	ENSP00000298622:R787H	R	+	2	0	JAKMIP3	133826848	1.000000	0.71417	0.964000	0.40570	0.899000	0.52679	9.019000	0.93662	2.102000	0.63906	0.460000	0.39030	CGC	JAKMIP3	-	NULL		0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133976858	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	0.999	A
KCNV1	27012	genome.wustl.edu	37	8	110980754	110980754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:110980754C>A	ENST00000524391.1	-	4	2098	c.1066G>T	c.(1066-1068)Gga>Tga	p.G356*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.G356*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	356					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAGATTCCCACGGATAGA	0.478																																																	0													71.0	68.0	69.0					8																	110980754		2203	4300	6503	SO:0001587	stop_gained	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1066G>T	8.37:g.110980754C>A	ENSP00000435954:p.Gly356*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UHJ4	Nonsense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.G356*	ENST00000524391.1	37	c.1066	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.403156	0.98796	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	356;356;232	.	ENSP00000297404:G356X	G	-	1	0	KCNV1	111049930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.628000	0.89032	0.655000	0.94253	GGA	KCNV1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	C	NM_014379		110980754	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ICE1	23379	genome.wustl.edu	37	5	5465100	5465100	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:5465100G>A	ENST00000296564.7	+	13	5875	c.5653G>A	c.(5653-5655)Gag>Aag	p.E1885K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1885					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACAACAAATGAGGAAAGAAG	0.493																																																	0													71.0	70.0	70.0					5																	5465100		1897	4112	6009	SO:0001583	missense	23379																														ENST00000296564.7:c.5653G>A	5.37:g.5465100G>A	ENSP00000296564:p.Glu1885Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1885K	ENST00000296564.7	37	c.5653	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774885	0.31411	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	5.6	4.73	0.59995	.	.	.	.	.	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.30995	-0.9959	9	0.17832	T	0.49	-0.8532	12.146	0.54024	0.083:0.0:0.917:0.0	.	1885	Q9Y2F5	K0947_HUMAN	K	1885	ENSP00000296564:E1885K	ENSP00000296564:E1885K	E	+	1	0	KIAA0947	5518100	0.000000	0.05858	0.003000	0.11579	0.154000	0.21943	0.498000	0.22530	1.379000	0.46325	0.467000	0.42956	GAG	KIAA0947	-	NULL		0.493	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5465100	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.005	A
KIF22	3835	genome.wustl.edu	37	16	29811297	29811297	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:29811297G>A	ENST00000160827.4	+	8	1248	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	KIF22_ENST00000561482.1_Missense_Mutation_p.R335Q|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.R335Q|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.R335Q	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	403					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AAGAGAGCCCGAGGCCCTGAG	0.587																																																	0													72.0	66.0	68.0					16																	29811297		2197	4300	6497	SO:0001583	missense	3835			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1208G>A	16.37:g.29811297G>A	ENSP00000160827:p.Arg403Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R403Q	ENST00000160827.4	37	c.1208	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	8.902	0.956618	0.18507	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74209	-0.74;-0.82	5.41	2.39	0.29439	.	.	.	.	.	T	0.50514	0.1620	N	0.19112	0.55	0.37368	D	0.911529	P;B	0.37997	0.614;0.338	B;B	0.25614	0.062;0.01	T	0.49031	-0.8981	9	0.38643	T	0.18	.	7.0307	0.24965	0.2759:0.0:0.7241:0.0	.	335;403	B7Z265;Q14807	.;KIF22_HUMAN	Q	403;335	ENSP00000160827:R403Q;ENSP00000383562:R335Q	ENSP00000160827:R403Q	R	+	2	0	KIF22	29718798	0.999000	0.42202	0.957000	0.39632	0.474000	0.32979	1.254000	0.32897	0.400000	0.25396	0.650000	0.86243	CGA	KIF22	-	NULL		0.587	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	G			29811297	+1	no_errors	ENST00000160827	ensembl	human	known	70_37	missense	SNP	0.540	A
LATS1	9113	genome.wustl.edu	37	6	149997469	149997469	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:149997469C>A	ENST00000543571.1	-	7	3357	c.2810G>T	c.(2809-2811)gGt>gTt	p.G937V	LATS1_ENST00000253339.5_Missense_Mutation_p.G937V|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGAATAACACCAACACTCCA	0.318																																																	0													145.0	127.0	133.0					6																	149997469		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2810G>T	6.37:g.149997469C>A	ENSP00000437550:p.Gly937Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G937V	ENST00000543571.1	37	c.2810	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709020	0.89018	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.56941	0.43;0.43	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.83119	0.5185	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89111	0.3496	9	.	.	.	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	937	O95835	LATS1_HUMAN	V	937	ENSP00000437550:G937V;ENSP00000253339:G937V	.	G	-	2	0	LATS1	150039162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GGT	LATS1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.318	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		149997469	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	A
LPHN1	22859	genome.wustl.edu	37	19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T	rs536482945		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											150.0	142.0	145.0					19																	14266197		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3283G>A	19.37:g.14266197C>T	ENSP00000340688:p.Val1095Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IE7|Q9BU07|Q9HAR3	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.V1095I	ENST00000340736.6	37	c.3283	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC	LPHN1	-	pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14266197	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	0.998	T
LMTK3	114783	genome.wustl.edu	37	19	49001792	49001792	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:49001792G>A	ENST00000600059.1	-	11	2761	c.2534C>T	c.(2533-2535)cCg>cTg	p.P845L	LMTK3_ENST00000270238.3_Missense_Mutation_p.P874L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	845	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGGGGCCCCGGGAGTGGGAG	0.716																																																	0													4.0	4.0	4.0					19																	49001792		1697	3876	5573	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2534C>T	19.37:g.49001792G>A	ENSP00000472020:p.Pro845Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P874L	ENST00000600059.1	37	c.2621		19	.	.	.	.	.	.	.	.	.	.	G	3.752	-0.051380	0.07407	.	.	ENSG00000142235	ENST00000270238	T	0.79940	-1.32	3.37	3.37	0.38596	.	0.623927	0.13756	N	0.364936	T	0.65626	0.2709	N	0.14661	0.345	0.09310	N	0.999999	B	0.23058	0.079	B	0.08055	0.003	T	0.60692	-0.7213	10	0.72032	D	0.01	.	10.9586	0.47372	0.0:0.0:1.0:0.0	.	845	Q96Q04	LMTK3_HUMAN	L	874	ENSP00000270238:P874L	ENSP00000270238:P874L	P	-	2	0	LMTK3	53693604	0.270000	0.24152	0.064000	0.19789	0.013000	0.08279	0.415000	0.21181	1.852000	0.53769	0.298000	0.19748	CCG	LMTK3	-	smart_Ser/Thr_dual-sp_kinase_dom		0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49001792	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	0.099	A
LPPR5	163404	genome.wustl.edu	37	1	99422185	99422185	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:99422185C>T	ENST00000263177.4	-	2	571	c.350G>A	c.(349-351)cGc>cAc	p.R117H	LPPR5_ENST00000370188.3_Missense_Mutation_p.R117H	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		117						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GACAGTTCGGCGCACCAGCGG	0.363																																																	0													64.0	68.0	66.0					1																	99422185		2202	4300	6502	SO:0001583	missense	163404																														ENST00000263177.4:c.350G>A	1.37:g.99422185C>T	ENSP00000263177:p.Arg117His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R117H	ENST00000263177.4	37	c.350	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866165	0.91511	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.52057	0.68;0.68	4.74	4.74	0.60224	.	0.058957	0.64402	D	0.000003	T	0.66752	0.2821	M	0.83774	2.66	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.73313	-0.4022	10	0.87932	D	0	.	17.0811	0.86599	0.0:1.0:0.0:0.0	.	117;117	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	H	117	ENSP00000359207:R117H;ENSP00000263177:R117H	ENSP00000263177:R117H	R	-	2	0	AL161744.1	99194773	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.234000	0.78134	2.342000	0.79632	0.591000	0.81541	CGC	LPPR5	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Uniprot_genename	protein_coding	OTTHUMT00000393221.1	C			99422185	-1	no_errors	ENST00000263177	ensembl	human	known	70_37	missense	SNP	1.000	T
LRP6	4040	genome.wustl.edu	37	12	12317428	12317428	+	Missense_Mutation	SNP	G	G	A	rs121918313		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:12317428G>A	ENST00000261349.4	-	9	1907	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	LRP6_ENST00000543091.1_Missense_Mutation_p.R611C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	611	EGF-like 2.		R -> C (in ADCAD2; impairs Wnt signaling in vitro). {ECO:0000269|PubMed:17332414}.		anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAAGCACAGCGAAGGCCCTGA	0.483																																																	0			GRCh37	CM070983	LRP6	M	rs121918313						115.0	109.0	111.0					12																	12317428		2203	4300	6503	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1831C>T	12.37:g.12317428G>A	ENSP00000261349:p.Arg611Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R611C	ENST00000261349.4	37	c.1831	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741508	0.89573	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96651	-4.08;-4.08	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000008	D	0.97545	0.9196	M	0.87038	2.855	0.80722	A	1	D;D	0.69078	0.997;0.989	P;P	0.50896	0.653;0.586	D	0.97644	1.0150	9	0.56958	D	0.05	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	611;611	F5H7J9;O75581	.;LRP6_HUMAN	C	611	ENSP00000261349:R611C;ENSP00000442472:R611C	ENSP00000261349:R611C	R	-	1	0	LRP6	12208695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.928000	0.56506	2.824000	0.97209	0.655000	0.94253	CGC	LRP6	-	smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	G			12317428	-1	no_errors	ENST00000261349	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC9	341883	genome.wustl.edu	37	14	60426611	60426611	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:60426611G>A	ENST00000445360.1	+	9	1162	c.958G>A	c.(958-960)Gat>Aat	p.D320N	LRRC9_ENST00000454474.2_3'UTR			Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	320																	TAAAGTAACTGATCCTGAAAC	0.428																																																	0																																										SO:0001583	missense	341883			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.958G>A	14.37:g.60426611G>A	ENSP00000454748:p.Asp320Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D320N	ENST00000445360.1	37	c.958		14																																																																																			LRRC9	-	NULL		0.428	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3	G			60426611	+1	no_errors	ENST00000254271	ensembl	human	known	70_37	missense	SNP	0.006	A
MAP2	4133	genome.wustl.edu	37	2	210557519	210557519	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:210557519G>A	ENST00000360351.4	+	7	1131	c.625G>A	c.(625-627)Gat>Aat	p.D209N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D205N|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	209					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACTTACCCTGATAAAAAGGA	0.453																																					Pancreas(27;423 979 28787 29963)												0													86.0	85.0	86.0					2																	210557519		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.625G>A	2.37:g.210557519G>A	ENSP00000353508:p.Asp209Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D209N	ENST00000360351.4	37	c.625	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597838	0.66332	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.32023	3.15;1.47;3.15	5.98	4.09	0.47781	.	0.370981	0.26032	N	0.026747	T	0.36110	0.0955	M	0.62723	1.935	0.09310	N	1	P;P	0.45902	0.868;0.792	P;B	0.46758	0.526;0.326	T	0.25398	-1.0133	10	0.62326	D	0.03	-5.7395	9.4269	0.38586	0.0738:0.2477:0.6785:0.0	.	205;209	P11137-3;P11137	.;MAP2_HUMAN	N	209;291;205	ENSP00000353508:D209N;ENSP00000409969:D291N;ENSP00000392164:D205N	ENSP00000353508:D209N	D	+	1	0	MAP2	210265764	0.434000	0.25570	0.012000	0.15200	0.143000	0.21401	1.949000	0.40313	1.542000	0.49330	0.655000	0.94253	GAT	MAP2	-	NULL		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210557519	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.006	A
MDN1	23195	genome.wustl.edu	37	6	90398302	90398302	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:90398302G>A	ENST00000369393.3	-	66	11364	c.11249C>T	c.(11248-11250)gCg>gTg	p.A3750V	MDN1_ENST00000428876.1_Missense_Mutation_p.A3750V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3750					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGTTCAAGCGCTGGGTGTTC	0.552																																																	0													57.0	54.0	55.0					6																	90398302		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11249C>T	6.37:g.90398302G>A	ENSP00000358400:p.Ala3750Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.A3750V	ENST00000369393.3	37	c.11249	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191863	0.21954	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02812	4.15;4.15	5.44	3.19	0.36642	.	0.132813	0.49305	N	0.000146	T	0.00580	0.0019	N	0.25201	0.72	0.30742	N	0.746063	P	0.34662	0.462	B	0.17433	0.018	T	0.52200	-0.8607	10	0.17369	T	0.5	.	9.3804	0.38311	0.2947:0.0:0.7053:0.0	.	3750	Q9NU22	MDN1_HUMAN	V	3750	ENSP00000358400:A3750V;ENSP00000413970:A3750V	ENSP00000358400:A3750V	A	-	2	0	MDN1	90455023	1.000000	0.71417	0.106000	0.21319	0.550000	0.35303	6.554000	0.73923	0.401000	0.25424	0.305000	0.20034	GCG	MDN1	-	pirsf_Midasin		0.552	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90398302	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.889	A
MPP5	64398	genome.wustl.edu	37	14	67799610	67799610	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:67799610G>T	ENST00000261681.4	+	15	2626	c.1965G>T	c.(1963-1965)ttG>ttT	p.L655F	MPP5_ENST00000555925.1_Missense_Mutation_p.L621F|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	655	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATCAGGAATTGCTTAGGTTAA	0.413																																																	0													95.0	84.0	88.0					14																	67799610		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1965G>T	14.37:g.67799610G>T	ENSP00000261681:p.Leu655Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.L655F	ENST00000261681.4	37	c.1965	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052963	0.55218	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28454	1.61;1.61	5.55	4.66	0.58398	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000001	T	0.46927	0.1418	M	0.70275	2.135	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.50110	-0.8866	10	0.87932	D	0	.	4.4009	0.11386	0.2099:0.0:0.6151:0.175	.	655	Q8N3R9	MPP5_HUMAN	F	655;621	ENSP00000261681:L655F;ENSP00000451488:L621F	ENSP00000261681:L655F	L	+	3	2	MPP5	66869363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.996000	0.40776	1.350000	0.45770	0.591000	0.81541	TTG	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.413	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67799610	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO1C	4641	genome.wustl.edu	37	17	1381435	1381435	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:1381435G>A	ENST00000575158.1	-	12	1418	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Silent_p.F449F|MYO1C_ENST00000438665.2_Silent_p.F430F|MYO1C_ENST00000361007.2_Silent_p.F414F|MYO1C_ENST00000545534.2_Silent_p.F425F			Q12965	MYO1E_HUMAN	myosin IC	416	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGAGCTCGATGAAGAGCTGCT	0.602																																																	0													85.0	80.0	82.0					17																	1381435		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1242C>T	17.37:g.1381435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F449	ENST00000575158.1	37	c.1347	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.602	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1381435	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152524371	152524371	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:152524371G>T	ENST00000172853.10	-	40	4813	c.4666C>A	c.(4666-4668)Cca>Aca	p.P1556T	NEB_ENST00000427231.2_Missense_Mutation_p.P1556T|NEB_ENST00000604864.1_Missense_Mutation_p.P1556T|NEB_ENST00000603639.1_Missense_Mutation_p.P1556T|NEB_ENST00000409198.1_Missense_Mutation_p.P1556T|NEB_ENST00000397345.3_Missense_Mutation_p.P1556T			P20929	NEBU_HUMAN	nebulin	1556					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGCATCTGGTCTCAAATCA	0.333																																																	0													115.0	116.0	115.0					2																	152524371		1832	4081	5913	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4666C>A	2.37:g.152524371G>T	ENSP00000172853:p.Pro1556Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P1556T	ENST00000172853.10	37	c.4666		2	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303856	0.10678	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05199	3.48;3.53;3.53;3.48	5.96	-6.64	0.01801	.	0.776477	0.12785	N	0.439319	T	0.03263	0.0095	L	0.39898	1.24	0.45076	D	0.998096	B	0.02656	0.0	B	0.08055	0.003	T	0.44605	-0.9317	10	0.10636	T	0.68	.	2.9799	0.05949	0.1628:0.1478:0.1625:0.5268	.	1556	P20929	NEBU_HUMAN	T	1556	ENSP00000386259:P1556T;ENSP00000380505:P1556T;ENSP00000416578:P1556T;ENSP00000172853:P1556T	ENSP00000172853:P1556T	P	-	1	0	NEB	152232617	0.000000	0.05858	0.904000	0.35570	0.999000	0.98932	-0.995000	0.03712	-1.092000	0.03062	0.650000	0.86243	CCA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152524371	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.122	T
NKAPL	222698	genome.wustl.edu	37	6	28227708	28227708	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:28227708A>G	ENST00000343684.3	+	1	611	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	187	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAGAAACAAGAAAAAAAGAAA	0.368																																																	0													33.0	40.0	38.0					6																	28227708		2202	4297	6499	SO:0001583	missense	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.559A>G	6.37:g.28227708A>G	ENSP00000345716:p.Lys187Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K187E	ENST00000343684.3	37	c.559	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238486	0.22711	.	.	ENSG00000189134	ENST00000343684	T	0.13778	2.56	4.95	3.76	0.43208	.	0.290026	0.35207	N	0.003364	T	0.06142	0.0159	M	0.78801	2.425	0.36338	D	0.859304	P	0.38788	0.647	B	0.31495	0.131	T	0.09997	-1.0649	10	0.46703	T	0.11	-16.092	5.034	0.14424	0.7203:0.1873:0.0924:0.0	.	187	Q5M9Q1	NKAPL_HUMAN	E	187	ENSP00000345716:K187E	ENSP00000345716:K187E	K	+	1	0	NKAPL	28335687	0.996000	0.38824	0.070000	0.20053	0.169000	0.22640	3.306000	0.51881	0.990000	0.38787	0.533000	0.62120	AAA	NKAPL	-	NULL		0.368	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	A			28227708	+1	no_errors	ENST00000343684	ensembl	human	known	70_37	missense	SNP	0.992	G
IGFALS	3483	genome.wustl.edu	37	16	1838598	1838598	+	IGR	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:1838598G>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000568706.1_Missense_Mutation_p.M92I|NUBP2_ENST00000262302.9_Missense_Mutation_p.M233I|NUBP2_ENST00000565134.1_3'UTR|NUBP2_ENST00000543305.1_Missense_Mutation_p.M92I|NUBP2_ENST00000565987.1_Missense_Mutation_p.M173I			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCGCTCATGAGGACCCTGG	0.662																																																	0													36.0	31.0	32.0					16																	1838598		2194	4298	6492	SO:0001628	intergenic_variant	10101			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838598G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZY8|E9PGU3	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK	p.M233I	ENST00000215539.3	37	c.699	CCDS10446.1	16	.	.	.	.	.	.	.	.	.	.	G	5.325	0.245385	0.10077	.	.	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.39997	1.05;1.99	4.84	-7.25	0.01470	.	0.749470	0.12810	N	0.437232	T	0.16896	0.0406	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10268	-1.0637	10	0.33940	T	0.23	-9.5389	4.3659	0.11225	0.1598:0.5077:0.2107:0.1218	.	233	Q9Y5Y2	NUBP2_HUMAN	I	233;92	ENSP00000262302:M233I;ENSP00000437763:M92I	ENSP00000262302:M233I	M	+	3	0	NUBP2	1778599	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.881000	0.01626	-0.839000	0.04212	-0.321000	0.08615	ATG	NUBP2	-	NULL		0.662	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP2	HGNC	protein_coding	OTTHUMT00000250509.2	G			1838598	+1	no_errors	ENST00000262302	ensembl	human	known	70_37	missense	SNP	0.000	A
OR10J1	26476	genome.wustl.edu	37	1	159410019	159410019	+	Silent	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498																																																	0													139.0	132.0	134.0					1																	159410019		2203	4300	6503	SO:0001819	synonymous_variant	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.471G>T	1.37:g.159410019G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L157	ENST00000423932.3	37	c.471	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	G	NM_012351		159410019	+1	no_errors	ENST00000423932	ensembl	human	known	70_37	silent	SNP	0.011	T
OBSCN	84033	genome.wustl.edu	37	1	228468419	228468419	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:228468419G>A	ENST00000422127.1	+	30	8163	c.8119G>A	c.(8119-8121)Gac>Aac	p.D2707N	OBSCN_ENST00000284548.11_Missense_Mutation_p.D2707N|OBSCN_ENST00000359599.6_Missense_Mutation_p.D1554N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D3136N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2707	Ig-like 26.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGTGCATGACGTGAGCCC	0.692																																																	0													30.0	37.0	35.0					1																	228468419		2102	4217	6319	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8119G>A	1.37:g.228468419G>A	ENSP00000409493:p.Asp2707Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D2707N	ENST00000422127.1	37	c.8119	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332077	0.41297	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.04015	3.73;3.73;3.73	5.39	1.37	0.22104	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.277928	0.32802	N	0.005633	T	0.09512	0.0234	L	0.35414	1.06	0.80722	D	1	B;B;D	0.89917	0.125;0.102;1.0	B;B;D	0.91635	0.073;0.043;0.999	T	0.30880	-0.9963	10	0.19590	T	0.45	.	9.3369	0.38056	0.2907:0.0:0.7093:0.0	.	2707;2707;2707	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	N	2707;2707;1554;406;113	ENSP00000284548:D2707N;ENSP00000409493:D2707N;ENSP00000352613:D1554N	ENSP00000284548:D2707N	D	+	1	0	OBSCN	226535042	0.978000	0.34361	0.302000	0.25058	0.121000	0.20230	2.355000	0.44107	0.244000	0.21351	0.457000	0.33378	GAC	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228468419	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.994	A
OR8K1	390157	genome.wustl.edu	37	11	56113585	56113585	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56113585C>A	ENST00000279783.2	+	1	165	c.71C>A	c.(70-72)aCa>aAa	p.T24K		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGGGGATTACAGACAACCCT	0.438										HNSCC(65;0.19)																																							0													110.0	103.0	105.0					11																	56113585		2201	4296	6497	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.71C>A	11.37:g.56113585C>A	ENSP00000279783:p.Thr24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T24K	ENST00000279783.2	37	c.71	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071689	0.76301	.	.	ENSG00000150261	ENST00000279783	T	0.00438	7.42	5.18	5.18	0.71444	.	0.135096	0.34507	N	0.003907	T	0.01061	0.0035	M	0.77616	2.38	0.28331	N	0.921793	D	0.71674	0.998	D	0.65010	0.931	T	0.32824	-0.9892	10	0.72032	D	0.01	-19.0572	13.6431	0.62265	0.1548:0.8452:0.0:0.0	.	24	Q8NGG5	OR8K1_HUMAN	K	24	ENSP00000279783:T24K	ENSP00000279783:T24K	T	+	2	0	OR8K1	55870161	0.006000	0.16342	0.162000	0.22713	0.839000	0.47603	2.227000	0.42972	2.387000	0.81309	0.549000	0.68633	ACA	OR8K1	-	NULL		0.438	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		56113585	+1	no_errors	ENST00000279783	ensembl	human	known	70_37	missense	SNP	0.648	A
OR8K1	390157	genome.wustl.edu	37	11	56113638	56113638	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56113638C>T	ENST00000279783.2	+	1	218	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CATCATATATCTGGTCACAGT	0.468										HNSCC(65;0.19)																																							0													145.0	129.0	135.0					11																	56113638		2201	4296	6497	SO:0001819	synonymous_variant	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.124C>T	11.37:g.56113638C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L42	ENST00000279783.2	37	c.124	CCDS31528.1	11																																																																																			OR8K1	-	prints_GPCR_Rhodpsn		0.468	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		56113638	+1	no_errors	ENST00000279783	ensembl	human	known	70_37	silent	SNP	0.001	T
OR5AP2	338675	genome.wustl.edu	37	11	56409223	56409223	+	Silent	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:56409223G>T	ENST00000302981.1	-	1	692	c.693C>A	c.(691-693)gtC>gtA	p.V231V	OR5AP2_ENST00000544374.1_Silent_p.V232V	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GCATCTTCAAGACGGCAATGA	0.448																																																	0													170.0	156.0	161.0					11																	56409223		2201	4296	6497	SO:0001819	synonymous_variant	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.693C>A	11.37:g.56409223G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V232	ENST00000302981.1	37	c.696	CCDS31534.1	11																																																																																			OR5AP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	HGNC	protein_coding	OTTHUMT00000391613.1	G	NM_001002925		56409223	-1	no_errors	ENST00000544374	ensembl	human	known	70_37	silent	SNP	0.700	T
OTC	5009	genome.wustl.edu	37	X	38271134	38271134	+	Missense_Mutation	SNP	C	C	G	rs72558459		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:38271134C>G	ENST00000039007.4	+	9	1039	c.887C>G	c.(886-888)tCt>tGt	p.S296C	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	296					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTTGCTGCCTCTGACTGGACA	0.403																																																	0													166.0	147.0	154.0					X																	38271134		2202	4300	6502	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.887C>G	X.37:g.38271134C>G	ENSP00000039007:p.Ser296Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans	p.S296C	ENST00000039007.4	37	c.887	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962558	0.74016	.	.	ENSG00000036473	ENST00000039007	D	0.99032	-5.35	5.0	5.0	0.66597	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.320605	0.37178	N	0.002215	D	0.98485	0.9495	M	0.79123	2.44	0.46260	D	0.998954	D	0.55605	0.972	P	0.45195	0.473	D	0.99813	1.1042	10	0.87932	D	0	-13.498	17.7347	0.88389	0.0:1.0:0.0:0.0	.	296	P00480	OTC_HUMAN	C	296	ENSP00000039007:S296C	ENSP00000039007:S296C	S	+	2	0	OTC	38156078	1.000000	0.71417	0.963000	0.40424	0.886000	0.51366	7.285000	0.78660	2.205000	0.71048	0.594000	0.82650	TCT	OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans		0.403	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	C			38271134	+1	no_errors	ENST00000039007	ensembl	human	known	70_37	missense	SNP	0.969	G
PATZ1	23598	genome.wustl.edu	37	22	31740386	31740387	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:31740386_31740387insT	ENST00000266269.5	-	1	1831_1832	c.1202_1203insA	c.(1201-1203)catfs	p.H401fs	PATZ1_ENST00000405309.3_Frame_Shift_Ins_p.H401fs|PATZ1_ENST00000351933.4_Frame_Shift_Ins_p.H401fs|PATZ1_ENST00000215919.3_Frame_Shift_Ins_p.H401fs|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	401					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGGACCGCACATGGTAGGACAT	0.579																																																	0																																										SO:0001589	frameshift_variant	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1203dupA	22.37:g.31740387_31740387dupT	ENSP00000266269:p.His401fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H401fs	ENST00000266269.5	37	c.1203_1202	CCDS13894.1	22																																																																																			PATZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.579	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	NM_032052		31740387	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	frame_shift_ins	INS	0.961:1.000	T
PCDHA6	56142	genome.wustl.edu	37	5	140209119	140209119	+	Silent	SNP	C	C	T	rs550072556		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:140209119C>T	ENST00000529310.1	+	1	1557	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.D481D	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGAGACGCGGACGCGC	0.652																																																	0													48.0	55.0	52.0					5																	140209119		2202	4297	6499	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1443C>T	5.37:g.140209119C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D481	ENST00000529310.1	37	c.1443	CCDS47281.1	5																																																																																			PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.652	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140209119	+1	no_errors	ENST00000529310	ensembl	human	known	70_37	silent	SNP	0.173	T
PCDHGA2	56113	genome.wustl.edu	37	5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622																																																	0													152.0	153.0	152.0					5																	140720214		2203	4300	6503	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1676C>T	5.37:g.140720214C>T	ENSP00000378077:p.Ala559Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A559V	ENST00000394576.2	37	c.1676	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	7.268	0.606631	0.14002	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	1.19	0.21007	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	U	0.808345	T	0.07007	0.0178	M	0.69185	2.1	0.09310	N	1	B;B	0.22541	0.005;0.071	B;B	0.24394	0.053;0.033	T	0.41016	-0.9532	10	0.44086	T	0.13	.	10.0865	0.42421	0.0:0.7185:0.0:0.2815	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	559	ENSP00000378077:A559V	ENSP00000378077:A559V	A	+	2	0	PCDHGA2	140700398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	0.005000	0.14708	-0.225000	0.12378	GCG	PCDHGA2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140720214	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	missense	SNP	0.005	T
PEG10	23089	genome.wustl.edu	37	7	94292667	94292667	+	5'UTR	DEL	A	A	-			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:94292667delA	ENST00000482108.1	+	0	278				PEG10_ENST00000488574.1_5'UTR	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	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)			TTTTGAAAACAAAAAAAAGAA	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	23089			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.-202A>-	7.37:g.94292667delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96A68|Q9UPV1	RNA	DEL	-	NULL	ENST00000482108.1	37	NULL	CCDS55126.1	7																																																																																			PEG10	-	-		0.443	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	A	NM_015068		94292667	+1	no_errors	ENST00000493935	ensembl	human	known	70_37	rna	DEL	0.791	-
PPAPDC1A	196051	genome.wustl.edu	37	10	122348880	122348880	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:122348880C>A	ENST00000398250.1	+	7	1034	c.682C>A	c.(682-684)Cct>Act	p.P228T	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P218T|PPAPDC1A_ENST00000398248.1_Silent_p.L77L|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P165T	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	228					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCACTATCCTCCTCTGGCCAA	0.517																																																	0													157.0	165.0	162.0					10																	122348880		2042	4212	6254	SO:0001583	missense	196051			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.682C>A	10.37:g.122348880C>A	ENSP00000381302:p.Pro228Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P228T	ENST00000398250.1	37	c.682	CCDS41573.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588329	0.86851	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	T;T;T	0.74737	-0.87;-0.87;-0.87	5.36	4.43	0.53597	.	0.048375	0.85682	D	0.000000	D	0.85173	0.5636	M	0.74881	2.28	0.80722	D	1	D;B	0.89917	1.0;0.447	D;B	0.91635	0.999;0.439	D	0.86197	0.1616	10	0.54805	T	0.06	-7.4675	15.4492	0.75259	0.1392:0.8607:0.0:0.0	.	165;228	Q5VZY2-2;Q5VZY2	.;PPC1A_HUMAN	T	165;228;228;218	ENSP00000381302:P228T;ENSP00000407979:P228T;ENSP00000358069:P218T	ENSP00000358069:P218T	P	+	1	0	PPAPDC1A	122338870	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.513000	0.60476	2.511000	0.84671	0.655000	0.94253	CCT	PPAPDC1A	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.517	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC1A	HGNC	protein_coding		C	XM_113641		122348880	+1	no_errors	ENST00000398250	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKCB	5579	genome.wustl.edu	37	16	24231365	24231365	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:24231365C>T	ENST00000321728.7	+	17	2122	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	649	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACTCTTCATCATGAACTTGG	0.448																																																	0													142.0	132.0	136.0					16																	24231365		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1947C>T	16.37:g.24231365C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.I649	ENST00000321728.7	37	c.1947	CCDS10618.1	16																																																																																			PRKCB	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.448	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	C	NM_212535		24231365	+1	no_errors	ENST00000321728	ensembl	human	known	70_37	silent	SNP	1.000	T
PRL	5617	genome.wustl.edu	37	6	22287704	22287704	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:22287704C>T	ENST00000306482.1	-	5	1129	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	204					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGAATCCCTGCGTAGGCAGTG	0.458																																																	0													226.0	200.0	209.0					6																	22287704		2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.611G>A	6.37:g.22287704C>T	ENSP00000302150:p.Arg204His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R204H	ENST00000306482.1	37	c.611	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651861	0.67472	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.90069	-2.61	5.66	5.66	0.87406	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.65320	2	0.80722	D	1	B;P	0.40619	0.001;0.724	B;B	0.43990	0.017;0.438	D	0.87609	0.2502	10	0.46703	T	0.11	-0.0219	20.1253	0.97977	0.0:1.0:0.0:0.0	.	204;205	P01236;Q5I0G2	PRL_HUMAN;.	H	204;173	ENSP00000302150:R204H	ENSP00000302150:R204H	R	-	2	0	PRL	22395683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.766000	0.55280	2.832000	0.97577	0.655000	0.94253	CGC	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.458	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22287704	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	1.000	T
PSPH	5723	genome.wustl.edu	37	7	56079283	56079283	+	3'UTR	DEL	A	A	-	rs71015155		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:56079283delA	ENST00000395471.3	-	0	1655				PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_3'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACTACAGTTAAAAAAAAAAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*172T>-	7.37:g.56079283delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR5|Q7Z3S5	RNA	DEL	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-		0.338	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	A	NM_004577		56079283	-1	no_errors	ENST00000459834	ensembl	human	known	70_37	rna	DEL	0.001	-
RASSF7	8045	genome.wustl.edu	37	11	563402	563402	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:563402C>G	ENST00000397583.3	+	5	1391	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	RASSF7_ENST00000397582.3_3'UTR|RASSF7_ENST00000431809.1_3'UTR|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000344375.4_Missense_Mutation_p.L320V|MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000454668.2_Intron	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	320	Pro-rich.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGGGCCCTCTGCCTCCAGC	0.687																																					Pancreas(184;1170 3913 7268)												0													19.0	21.0	20.0					11																	563402		2200	4299	6499	SO:0001583	missense	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.958C>G	11.37:g.563402C>G	ENSP00000380713:p.Leu320Val	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.L320V	ENST00000397583.3	37	c.958	CCDS7702.1	11	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881381	0.02530	.	.	ENSG00000099849	ENST00000344375;ENST00000397583	T;T	0.31769	1.48;1.48	3.21	-0.0979	0.13631	.	0.705172	0.11720	U	0.535976	T	0.19765	0.0475	L	0.51422	1.61	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.31110	-0.9955	10	0.14252	T	0.57	.	1.5669	0.02606	0.1811:0.4662:0.1514:0.2013	.	320	Q02833	RASF7_HUMAN	V	320	ENSP00000344226:L320V;ENSP00000380713:L320V	ENSP00000344226:L320V	L	+	1	2	RASSF7	553402	0.000000	0.05858	0.092000	0.20876	0.074000	0.17049	0.720000	0.25896	0.069000	0.16605	0.462000	0.41574	CTG	RASSF7	-	NULL		0.687	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	C	NM_003475		563402	+1	no_errors	ENST00000344375	ensembl	human	known	70_37	missense	SNP	0.004	G
PYGM	5837	genome.wustl.edu	37	11	64518734	64518734	+	Intron	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:64518734G>A	ENST00000164139.3	-	16	2368				PYGM_ENST00000377432.3_Intron|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGACGACTGATACCTCTTC	0.537																																																	0																																										SO:0001627	intron_variant	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1969+62C>T	11.37:g.64518734G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK1|A6NDY6	RNA	SNP	-	NULL	ENST00000164139.3	37	NULL	CCDS8079.1	11																																																																																			PYGM	-	-		0.537	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	G	NM_005609		64518734	-1	no_errors	ENST00000462303	ensembl	human	putative	70_37	rna	SNP	0.000	A
RBCK1	10616	genome.wustl.edu	37	20	389369	389369	+	5'UTR	SNP	T	T	C	rs568996651|rs370182004	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr20:389369T>C	ENST00000356286.5	+	0	673				RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_5'UTR|RBCK1_ENST00000353660.3_5'UTR|RBCK1_ENST00000475269.1_5'UTR|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1						negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GGAGGCACGGTCCCCCCCAGG	0.687																																																	0													39.0	34.0	36.0					20																	389369		2200	4298	6498	SO:0001623	5_prime_UTR_variant	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.-33T>C	20.37:g.389369T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95623|Q86SL2|Q96BS3|Q9BYM9	RNA	SNP	-	NULL	ENST00000356286.5	37	NULL	CCDS13000.2	20																																																																																			RBCK1	-	-		0.687	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	RBCK1	HGNC	protein_coding	OTTHUMT00000077461.3	T	NM_031229		389369	+1	no_errors	ENST00000400245	ensembl	human	known	70_37	rna	SNP	0.936	C
RBM5	10181	genome.wustl.edu	37	3	50155888	50155889	+	Stop_Codon_Del	DEL	GA	GA	-	rs112672304		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr3:50155888_50155889delGA	ENST00000347869.3	+	0	2622_2623				RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.*816fs?(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.535																																																	1	Deletion - Frameshift(1)	breast(1)																																								SO:0001567	stop_retained_variant	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	Exception_encountered	3.37:g.50155898_50155899delGA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	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.*816fs	ENST00000347869.3	37	c.2447_2448	CCDS2810.1	3																																																																																			RBM5	-	NULL		0.535	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	GA	NM_005778		50155889	+1	no_errors	ENST00000347869	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.999	-
RP1	6101	genome.wustl.edu	37	8	55538851	55538851	+	Silent	SNP	T	T	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:55538851T>A	ENST00000220676.1	+	4	2557	c.2409T>A	c.(2407-2409)ccT>ccA	p.P803P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	803					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTGTTTCCTCACAATGAAT	0.299																																					Colon(91;1014 1389 7634 14542 40420)												0													37.0	44.0	41.0					8																	55538851		2185	4291	6476	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2409T>A	8.37:g.55538851T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P803	ENST00000220676.1	37	c.2409	CCDS6160.1	8																																																																																			RP1	-	NULL		0.299	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	T	NM_006269		55538851	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	silent	SNP	0.000	A
RP1	6101	genome.wustl.edu	37	8	55539381	55539381	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:55539381G>T	ENST00000220676.1	+	4	3087	c.2939G>T	c.(2938-2940)gGt>gTt	p.G980V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	980					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATTGCCGGTTTGACAGGA	0.348																																					Colon(91;1014 1389 7634 14542 40420)												0													112.0	121.0	118.0					8																	55539381		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2939G>T	8.37:g.55539381G>T	ENSP00000220676:p.Gly980Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G980V	ENST00000220676.1	37	c.2939	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.086919	0.07097	.	.	ENSG00000104237	ENST00000220676	T	0.40476	1.03	5.62	-11.2	0.00127	.	1.348760	0.04536	N	0.387217	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14227	-1.0480	10	0.41790	T	0.15	.	1.4946	0.02464	0.458:0.1728:0.1096:0.2596	.	980	P56715	RP1_HUMAN	V	980	ENSP00000220676:G980V	ENSP00000220676:G980V	G	+	2	0	RP1	55701934	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.549000	0.06041	-1.996000	0.00970	-0.140000	0.14226	GGT	RP1	-	NULL		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55539381	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.000	T
RSPH10B2	728194	genome.wustl.edu	37	7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	rs199536223		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																	0								G	HIS/ARG	8,3516		0,8,1754	5.0	5.0	5.0		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R92H	ENST00000403107.1	37	c.275	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT	RSPH10B2	-	pfam_MORN		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	G	NM_001099697		6798735	+1	no_errors	ENST00000297186	ensembl	human	known	70_37	missense	SNP	0.378	A
RTN1	6252	genome.wustl.edu	37	14	60212576	60212576	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:60212576C>G	ENST00000267484.5	-	2	1200	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	289					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACAGAAGGTTCTATTTCCGTC	0.478																																																	0													109.0	103.0	105.0					14																	60212576		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.865G>C	14.37:g.60212576C>G	ENSP00000267484:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E289Q	ENST00000267484.5	37	c.865	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583270	0.28268	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24151	1.87	5.53	5.53	0.82687	.	0.379302	0.27155	N	0.020676	T	0.25717	0.0626	L	0.48642	1.525	0.09310	N	1	B	0.22909	0.077	B	0.21360	0.034	T	0.09271	-1.0682	10	0.30854	T	0.27	.	16.4904	0.84199	0.0:0.8693:0.1307:0.0	.	289	Q16799	RTN1_HUMAN	Q	289;215	ENSP00000267484:E289Q	ENSP00000267484:E289Q	E	-	1	0	RTN1	59282329	0.822000	0.29219	0.781000	0.31783	0.872000	0.50106	3.050000	0.49877	2.588000	0.87417	0.557000	0.71058	GAA	RTN1	-	NULL		0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	C			60212576	-1	no_errors	ENST00000267484	ensembl	human	known	70_37	missense	SNP	0.081	G
RTN4RL1	146760	genome.wustl.edu	37	17	1840152	1840152	+	Missense_Mutation	SNP	C	C	T	rs572459222		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:1840152C>T	ENST00000331238.6	-	2	1443	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCGGCCCTGTCGGTGGTGGTG	0.701																																					GBM(68;949 1139 14865 32798 38342)												0													15.0	18.0	17.0					17																	1840152		2160	4230	6390	SO:0001583	missense	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.964G>A	17.37:g.1840152C>T	ENSP00000330631:p.Asp322Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D322N	ENST00000331238.6	37	c.964	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825199	0.32237	.	.	ENSG00000185924	ENST00000331238	T	0.62232	0.04	4.36	4.36	0.52297	.	0.000000	0.41605	D	0.000860	T	0.48132	0.1483	L	0.38531	1.155	0.37558	D	0.918948	B	0.22146	0.065	B	0.12837	0.008	T	0.47289	-0.9129	10	0.12766	T	0.61	.	12.949	0.58389	0.0:0.837:0.163:0.0	.	322	Q86UN2	R4RL1_HUMAN	N	322	ENSP00000330631:D322N	ENSP00000330631:D322N	D	-	1	0	RTN4RL1	1786902	0.935000	0.31712	1.000000	0.80357	0.936000	0.57629	1.984000	0.40658	2.268000	0.75426	0.549000	0.68633	GAC	RTN4RL1	-	NULL		0.701	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	C	NM_178568		1840152	-1	no_errors	ENST00000331238	ensembl	human	known	70_37	missense	SNP	0.997	T
SAMD4A	23034	genome.wustl.edu	37	14	55169040	55169040	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:55169040C>T	ENST00000554335.1	+	3	1120	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R152C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R153C|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R153C			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	153					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTTGGAGGACCGCACGTCGAC	0.517																																																	0													87.0	83.0	85.0					14																	55169040		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.457C>T	14.37:g.55169040C>T	ENSP00000452535:p.Arg153Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.R153C	ENST00000554335.1	37	c.457	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306373	0.81247	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.74209	-0.82;-0.82;-0.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	M	0.72894	2.215	0.43000	D	0.994511	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.83512	0.0081	10	0.38643	T	0.18	-11.816	20.8794	0.99867	0.0:1.0:0.0:0.0	.	52;153;153	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	C	153;153;153;152;152	ENSP00000452535:R153C;ENSP00000375919:R153C;ENSP00000350261:R152C	ENSP00000306381:R153C	R	+	1	0	SAMD4A	54238790	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.783000	0.62403	2.941000	0.99782	0.655000	0.94253	CGC	SAMD4A	-	NULL		0.517	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	C	NM_015589		55169040	+1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN4A	6329	genome.wustl.edu	37	17	62020421	62020421	+	Silent	SNP	C	C	T	rs376395544		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:62020421C>T	ENST00000435607.1	-	23	4129	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	SCN4A_ENST00000578147.1_Silent_p.T1351T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1351					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGCCTGCTTCGTCACGAGGT	0.562																																																	0								C		0,4406		0,0,2203	218.0	198.0	205.0		4053	-7.7	0.2	17		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN4A	NM_000334.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1351/1837	62020421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4053G>A	17.37:g.62020421C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1351	ENST00000435607.1	37	c.4053	CCDS45761.1	17																																																																																			SCN4A	-	NULL		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62020421	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	0.453	T
SCP2	6342	genome.wustl.edu	37	1	53413706	53413706	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:53413706G>C	ENST00000371514.3	+	3	321	c.153G>C	c.(151-153)caG>caC	p.Q51H	SCP2_ENST00000371509.4_Missense_Mutation_p.Q51H|SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000407246.2_Intron|SCP2_ENST00000371513.5_Missense_Mutation_p.Q51H	NM_002979.4	NP_002970.2	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CTGATGCACAGATCCCTTATT	0.333																																																	0													181.0	172.0	175.0					1																	53413706		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000371514.3:c.153G>C	1.37:g.53413706G>C	ENSP00000360569:p.Gln51His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.Q51H	ENST00000371514.3	37	c.153	CCDS572.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.061596|2.061596	0.36373|0.36373	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000371509;ENST00000371513|ENST00000529363	D;D;D|.	0.94417|.	-3.42;-3.42;-3.42|.	6.17|6.17	1.97|1.97	0.26223|0.26223	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.285191|.	0.38720|.	N|.	0.001586|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.12837|.	0.003;0.008;0.003|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.42905|.	T|.	0.14|.	-0.558|-0.558	3.7768|3.7768	0.08663|0.08663	0.1258:0.4045:0.3309:0.1387|0.1258:0.4045:0.3309:0.1387	.|.	51;51;51|.	A6NM69;P22307;Q6NXF4|.	.;NLTP_HUMAN;.|.	H|T	51|26	ENSP00000360569:Q51H;ENSP00000360564:Q51H;ENSP00000360568:Q51H|.	ENSP00000360564:Q51H|.	Q|R	+|+	3|2	2|0	SCP2|SCP2	53186294|53186294	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	0.747000|0.747000	0.26290|0.26290	0.895000|0.895000	0.36342|0.36342	-0.175000|-0.175000	0.13238|0.13238	CAG|AGA	SCP2	-	pfam_Thiolase_N,superfamily_Thiolase-like		0.333	SCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000024740.2	G	NM_002979		53413706	+1	no_errors	ENST00000371514	ensembl	human	known	70_37	missense	SNP	0.997	C
SCRN2	90507	genome.wustl.edu	37	17	45918202	45918202	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:45918202G>A	ENST00000290216.9	-	2	133	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SCRN2_ENST00000584123.1_Missense_Mutation_p.S11L|SCRN2_ENST00000407215.3_Missense_Mutation_p.S3L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	3						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGGGCTCGACGACGCCATCTG	0.647											OREG0024502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	27.0	25.0					17																	45918202		2202	4300	6502	SO:0001583	missense	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.8C>T	17.37:g.45918202G>A	ENSP00000290216:p.Ser3Leu	Somatic	935	WXS	Illumina HiSeq	Phase_IV	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.S3L	ENST00000290216.9	37	c.8	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	g	16.62	3.175106	0.57692	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08634	3.22;3.07	5.55	2.47	0.30058	.	0.486738	0.18828	N	0.130046	T	0.04998	0.0134	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.41233	-0.9520	10	0.22109	T	0.4	0.0626	6.1735	0.20431	0.1622:0.0:0.6852:0.1527	.	3;3;3	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	L	3	ENSP00000290216:S3L;ENSP00000383935:S3L	ENSP00000290216:S3L	S	-	2	0	SCRN2	43273201	0.000000	0.05858	0.010000	0.14722	0.149000	0.21700	-0.060000	0.11712	0.710000	0.31997	-0.187000	0.12897	TCG	SCRN2	-	NULL		0.647	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918202	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	missense	SNP	0.007	A
SEC22B	9554	genome.wustl.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928																0																																												9554			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G0	RNA	INS	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-		0.416	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	-	NM_004892		145116148	+1	no_errors	ENST00000453618	ensembl	human	known	70_37	rna	INS	0.382:0.029	A
SEMA7A	8482	genome.wustl.edu	37	15	74704301	74704301	+	Silent	SNP	G	G	A	rs376016282		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr15:74704301G>A	ENST00000261918.4	-	11	1895	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	SEMA7A_ENST00000542748.1_Silent_p.F284F|SEMA7A_ENST00000543145.2_Silent_p.F435F	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	449	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGTTGAAGGCGAAGCTGTGCT	0.642																																																	0								G	,,	0,4394		0,0,2197	121.0	83.0	96.0		1305,852,1347	-7.1	0.0	15		96	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,,	435/653,284/502,449/667	74704301	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1347C>T	15.37:g.74704301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F449	ENST00000261918.4	37	c.1347	CCDS10262.1	15																																																																																			SEMA7A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.642	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA7A	HGNC	protein_coding	OTTHUMT00000272904.3	G	NM_003612		74704301	-1	no_errors	ENST00000261918	ensembl	human	known	70_37	silent	SNP	0.000	A
SH3TC1	54436	genome.wustl.edu	37	4	8218729	8218729	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:8218729C>T	ENST00000245105.3	+	7	741	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SH3TC1_ENST00000539824.1_Missense_Mutation_p.T149M	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	225										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGAGTGATGACGGGTCCCCGG	0.657																																					NSCLC(145;2298 2623 35616 37297)												0													101.0	91.0	95.0					4																	8218729		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.674C>T	4.37:g.8218729C>T	ENSP00000245105:p.Thr225Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.T225M	ENST00000245105.3	37	c.674	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	8.162	0.789777	0.16258	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76060	-0.99;-0.98;0.53	4.05	-2.3	0.06785	.	1.483870	0.04561	N	0.391608	T	0.54532	0.1864	N	0.24115	0.695	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.33085	-0.9882	10	0.35671	T	0.21	-0.2836	0.787	0.01050	0.3646:0.2797:0.1203:0.2355	.	225	Q8TE82	S3TC1_HUMAN	M	225;149;54;34	ENSP00000245105:T225M;ENSP00000441045:T149M;ENSP00000426035:T34M	ENSP00000245105:T225M	T	+	2	0	SH3TC1	8269629	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.431000	0.06965	-0.106000	0.12110	0.462000	0.41574	ACG	SH3TC1	-	NULL		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8218729	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC36A2	153201	genome.wustl.edu	37	5	150718698	150718698	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:150718698C>A	ENST00000335244.4	-	5	577	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.V150L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	150					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)	AAGAAGCTCACGATATGCCTA	0.408																																																	0													118.0	118.0	118.0					5																	150718698		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.448G>T	5.37:g.150718698C>A	ENSP00000334223:p.Val150Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.V150L	ENST00000335244.4	37	c.448	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987301	0.74589	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02498	4.27;4.27	4.23	4.23	0.50019	.	0.133937	0.50627	D	0.000118	T	0.21427	0.0516	M	0.92077	3.27	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.98	D;D;D	0.77004	0.989;0.986;0.951	T	0.14727	-1.0462	10	0.66056	D	0.02	-19.4171	16.813	0.85726	0.0:1.0:0.0:0.0	.	150;150;150	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	L	150	ENSP00000334223:V150L;ENSP00000430535:V150L	ENSP00000334223:V150L	V	-	1	0	SLC36A2	150698891	1.000000	0.71417	0.909000	0.35828	0.814000	0.46013	5.324000	0.65863	2.363000	0.80096	0.460000	0.39030	GTG	SLC36A2	-	pfam_AA_transpt_TM		0.408	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	C			150718698	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	0.998	A
SMEK2	57223	genome.wustl.edu	37	2	55844417	55844417	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:55844417G>A	ENST00000345102.5	-	1	306	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.S2L|SMEK2_ENST00000407823.3_Missense_Mutation_p.S2L|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	2	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCGCGTATCCGACATGGTGGC	0.632																																																	0													50.0	40.0	43.0					2																	55844417		2203	4300	6503	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.5C>T	2.37:g.55844417G>A	ENSP00000339769:p.Ser2Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.S2L	ENST00000345102.5	37	c.5	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.876252	0.97055	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.46451	0.87;0.87;0.87	5.06	5.06	0.68205	.	0.129339	0.56097	D	0.000037	T	0.33818	0.0876	L	0.29908	0.895	0.80722	D	1	P;P;P	0.46912	0.886;0.776;0.886	B;B;B	0.39217	0.294;0.154;0.294	T	0.14896	-1.0456	10	0.41790	T	0.15	-3.312	18.6177	0.91308	0.0:0.0:1.0:0.0	.	2;2;2	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	L	2	ENSP00000272313:S2L;ENSP00000385912:S2L;ENSP00000339769:S2L	ENSP00000272313:S2L	S	-	2	0	SMEK2	55697921	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.906000	0.75719	2.636000	0.89361	0.561000	0.74099	TCG	SMEK2	-	NULL		0.632	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	G	NM_020463		55844417	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	missense	SNP	1.000	A
SNED1	25992	genome.wustl.edu	37	2	241991561	241991561	+	Silent	SNP	G	G	A	rs369648878		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:241991561G>A	ENST00000310397.8	+	14	1956	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.R652R|SNED1_ENST00000401884.1_Silent_p.R652R|SNED1_ENST00000405547.3_Silent_p.R652R|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	652	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTCCGGGCGGCACTGCGAGA	0.632																																																	0													48.0	52.0	51.0					2																	241991561		2005	4171	6176	SO:0001819	synonymous_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1956G>A	2.37:g.241991561G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.R652	ENST00000310397.8	37	c.1956	CCDS46562.1	2																																																																																			SNED1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		241991561	+1	no_errors	ENST00000310397	ensembl	human	known	70_37	silent	SNP	1.000	A
SNRPB	6628	genome.wustl.edu	37	20	2443795	2443795	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr20:2443795G>T	ENST00000438552.2	-	5	661	c.499C>A	c.(499-501)Cag>Aag	p.Q167K	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_Missense_Mutation_p.Q88K|SNRPB_ENST00000381342.2_Missense_Mutation_p.Q167K	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	167					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGTGGGTACTGGGTTGGAGCC	0.592																																																	0													42.0	49.0	47.0					20																	2443795		2182	4277	6459	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.499C>A	20.37:g.2443795G>T	ENSP00000412566:p.Gln167Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.Q167K	ENST00000438552.2	37	c.499	CCDS13026.1	20	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586775	0.46110	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.42131	0.99;0.98	6.08	6.08	0.98989	.	0.110551	0.64402	D	0.000005	T	0.41789	0.1174	L	0.47716	1.5	0.53688	D	0.999978	B;B;B;B	0.19200	0.017;0.034;0.034;0.01	B;B;B;B	0.16289	0.006;0.015;0.009;0.007	T	0.19257	-1.0311	10	0.87932	D	0	.	18.1573	0.89696	0.0:0.0:1.0:0.0	.	88;167;167;167	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	K	167;167;167;88	ENSP00000370746:Q167K;ENSP00000412566:Q167K	ENSP00000303591:Q167K	Q	-	1	0	SNRPB	2391795	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.232000	0.95325	2.894000	0.99253	0.655000	0.94253	CAG	SNRPB	-	pirsf_snRNP-assoc_SmB/SmN		0.592	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNRPB	HGNC	protein_coding	OTTHUMT00000077585.2	G			2443795	-1	no_errors	ENST00000438552	ensembl	human	known	70_37	missense	SNP	1.000	T
SOCS6	9306	genome.wustl.edu	37	18	67992052	67992052	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr18:67992052G>T	ENST00000397942.3	+	2	464	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	SOCS6_ENST00000582322.1_Missense_Mutation_p.D50Y	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	50					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTATGGTAAAGATATGGCCAG	0.418																																					Melanoma(84;1024 1361 24382 36583 42651)												0													91.0	90.0	91.0					18																	67992052		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.148G>T	18.37:g.67992052G>T	ENSP00000381034:p.Asp50Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D50Y	ENST00000397942.3	37	c.148	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505226	0.44558	.	.	ENSG00000170677	ENST00000397942	T	0.28895	1.59	5.4	5.4	0.78164	.	0.359044	0.27139	N	0.020756	T	0.38506	0.1043	L	0.43152	1.355	0.80722	D	1	P	0.49447	0.924	P	0.48030	0.564	T	0.23154	-1.0196	10	0.87932	D	0	-8.7373	19.1893	0.93658	0.0:0.0:1.0:0.0	.	50	O14544	SOCS6_HUMAN	Y	50	ENSP00000381034:D50Y	ENSP00000381034:D50Y	D	+	1	0	SOCS6	66143032	1.000000	0.71417	0.950000	0.38849	0.770000	0.43624	9.176000	0.94839	2.527000	0.85204	0.561000	0.74099	GAT	SOCS6	-	NULL		0.418	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	G			67992052	+1	no_errors	ENST00000397942	ensembl	human	known	70_37	missense	SNP	1.000	T
SORCS1	114815	genome.wustl.edu	37	10	108434815	108434815	+	Silent	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr10:108434815G>T	ENST00000263054.6	-	14	1939	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	SORCS1_ENST00000344440.6_Silent_p.L644L|SORCS1_ENST00000369698.1_Silent_p.L179L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	644					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGTCATGATGAGAGTCTCTT	0.408																																																	0													126.0	119.0	122.0					10																	108434815		2203	4300	6503	SO:0001819	synonymous_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1932C>A	10.37:g.108434815G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L644	ENST00000263054.6	37	c.1932	CCDS7559.1	10																																																																																			SORCS1	-	smart_VPS10		0.408	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918		108434815	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	silent	SNP	0.134	T
SORL1	6653	genome.wustl.edu	37	11	121425928	121425928	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:121425928G>T	ENST00000260197.7	+	18	2601	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	824					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGGCAAGAGGTGATCATCA	0.468																																																	0													114.0	117.0	116.0					11																	121425928		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2472G>T	11.37:g.121425928G>T	ENSP00000260197:p.Glu824Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E824D	ENST00000260197.7	37	c.2472	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	19.99	3.927883	0.73327	.	.	ENSG00000137642	ENST00000260197	D	0.91464	-2.85	5.74	0.706	0.18133	Six-bladed beta-propeller, TolB-like (1);	0.097938	0.64402	D	0.000002	D	0.94601	0.8260	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.93177	0.6571	10	0.72032	D	0.01	.	10.346	0.43906	0.4888:0.0:0.5112:0.0	.	824	Q92673	SORL_HUMAN	D	824	ENSP00000260197:E824D	ENSP00000260197:E824D	E	+	3	2	SORL1	120931138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	0.640000	0.24705	-0.040000	0.13580	0.563000	0.77884	GAG	SORL1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121425928	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	0.996	T
SREBF1	6720	genome.wustl.edu	37	17	17720301	17720301	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:17720301G>A	ENST00000261646.5	-	9	1940	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	SREBF1_ENST00000338854.5_Missense_Mutation_p.R586C|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.R616C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R332C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	586					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GCCTGCTTGCGATGCCTCCAG	0.652																																																	0													50.0	56.0	54.0					17																	17720301		2203	4300	6503	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1756C>T	17.37:g.17720301G>A	ENSP00000261646:p.Arg586Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R616C	ENST00000261646.5	37	c.1846	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023294|5.023294	0.93462|0.93462	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79155|0.79155	0.4398|0.4398	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.996|.	T|T	0.80743|0.80743	-0.1246|-0.1246	10|5	0.87932|.	D|.	0|.	-24.1976|-24.1976	17.7619|17.7619	0.88467|0.88467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	586;616;205|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	C|L	586;616;586;332;205;423;512|593	ENSP00000345822:R586C;ENSP00000348069:R616C;ENSP00000261646:R586C;ENSP00000379106:R332C|.	ENSP00000261646:R586C|.	R|S	-|-	1|2	0|0	SREBF1|SREBF1	17661026|17661026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.738000|9.738000	0.98835|0.98835	2.496000|2.496000	0.84212|0.84212	0.561000|0.561000	0.74099|0.74099	CGC|TCG	SREBF1	-	NULL		0.652	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	G	NM_004176		17720301	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	1.000	A
SSC5D	284297	genome.wustl.edu	37	19	56029613	56029613	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:56029613C>T	ENST00000389623.6	+	14	3993	c.3970C>T	c.(3970-3972)Cac>Tac	p.H1324Y		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1324	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						cacgacccctcaccccACAAC	0.602																																																	0													339.0	321.0	326.0					19																	56029613		692	1591	2283	SO:0001583	missense	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3970C>T	19.37:g.56029613C>T	ENSP00000374274:p.His1324Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.H1324Y	ENST00000389623.6	37	c.3970	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	9.820	1.185466	0.21870	.	.	ENSG00000179954	ENST00000389623	T	0.01228	5.14	2.21	-2.91	0.05631	.	.	.	.	.	T	0.00967	0.0032	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47471	-0.9115	9	0.45353	T	0.12	.	2.0575	0.03584	0.2524:0.3833:0.0:0.3642	.	1324	A1L4H1	SRCRL_HUMAN	Y	1324	ENSP00000374274:H1324Y	ENSP00000374274:H1324Y	H	+	1	0	SSC5D	60721425	0.007000	0.16637	0.003000	0.11579	0.121000	0.20230	0.000000	0.12993	-0.170000	0.10816	0.165000	0.16767	CAC	SSC5D	-	NULL		0.602	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	C	XM_001718392		56029613	+1	no_errors	ENST00000389623	ensembl	human	known	70_37	missense	SNP	0.001	T
ST6GALNAC6	30815	genome.wustl.edu	37	9	130649001	130649001	+	Silent	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:130649001G>T	ENST00000373146.1	-	7	1058	c.879C>A	c.(877-879)gtC>gtA	p.V293V	ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.S292*|ST6GALNAC6_ENST00000373141.1_Silent_p.V259V|ST6GALNAC6_ENST00000485320.1_5'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000291839.5_Silent_p.V293V|ST6GALNAC6_ENST00000542456.1_Silent_p.V93V|ST6GALNAC6_ENST00000373144.3_Silent_p.V259V			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	293					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATGTAGGTGACACATTCGT	0.612																																																	0													233.0	182.0	199.0					9																	130649001		2203	4300	6503	SO:0001819	synonymous_variant	30815			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.879C>A	9.37:g.130649001G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.S292*	ENST00000373146.1	37	c.875	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.999737	0.97994	.	.	ENSG00000160408	ENST00000373142	.	.	.	5.81	4.91	0.64330	.	0.432853	0.17287	N	0.179795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.6826	9.9427	0.41589	0.0764:0.1397:0.7839:0.0	.	.	.	.	X	292	.	ENSP00000362235:S292X	S	-	2	0	ST6GALNAC6	129688822	0.507000	0.26146	1.000000	0.80357	0.999000	0.98932	-0.271000	0.08572	1.469000	0.48083	0.655000	0.94253	TCA	ST6GALNAC6	-	NULL		0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	G	NM_013443		130649001	-1	no_errors	ENST00000373142	ensembl	human	putative	70_37	nonsense	SNP	1.000	T
SUV39H1	6839	genome.wustl.edu	37	X	48558713	48558713	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:48558713C>A	ENST00000376687.3	+	3	587	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	SUV39H1_ENST00000453214.2_Intron|SUV39H1_ENST00000337852.6_Missense_Mutation_p.Q144K|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	133					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCGCTGGGAGCAGGAGCTCAA	0.637																																																	0													33.0	29.0	31.0					X																	48558713		2200	4300	6500	SO:0001583	missense	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.397C>A	X.37:g.48558713C>A	ENSP00000365877:p.Gln133Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.Q144K	ENST00000376687.3	37	c.430	CCDS14304.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.45|12.45	1.940624|1.940624	0.34283|0.34283	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000448548|ENST00000337852;ENST00000376687	.|D;D	.|0.93953	.|-3.32;-3.32	4.82|4.82	3.92|3.92	0.45320|0.45320	.|Pre-SET zinc-binding sub-group (1);	.|0.376292	.|0.27866	.|N	.|0.017529	D|D	0.86719|0.86719	0.6000|0.6000	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.78262|0.78262	-0.2272|-0.2272	6|10	0.02654|0.10377	T|T	1|0.69	.|.	7.53|7.53	0.27677|0.27677	0.1841:0.64:0.176:0.0|0.1841:0.64:0.176:0.0	.|.	.|144;133	.|B4DST0;O43463	.|.;SUV91_HUMAN	E|K	132|144;133	.|ENSP00000337976:Q144K;ENSP00000365877:Q133K	ENSP00000410043:A132E|ENSP00000337976:Q144K	A|Q	+|+	2|1	0|0	SUV39H1|SUV39H1	48443657|48443657	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.700000|0.700000	0.40528|0.40528	0.034000|0.034000	0.13776|0.13776	1.972000|1.972000	0.57404|0.57404	0.502000|0.502000	0.49764|0.49764	GCA|CAG	SUV39H1	-	smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase		0.637	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	C	NM_003173		48558713	+1	no_errors	ENST00000337852	ensembl	human	known	70_37	missense	SNP	0.997	A
SYN3	8224	genome.wustl.edu	37	22	32924939	32924939	+	Silent	SNP	C	C	T	rs138034081		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:32924939C>T	ENST00000358763.2	-	11	1394	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	SYN3_ENST00000332840.5_Silent_p.L384L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	384	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.L384L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTCGGCCATCAGCTGTCTGT	0.592											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	urinary_tract(1)						C	,,	0,4406		0,0,2203	91.0	73.0	79.0		1149,1152,1152	3.0	1.0	22	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	383/580,384/581,384/445	32924939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1152G>A	22.37:g.32924939C>T		Somatic	836	WXS	Illumina HiSeq	Phase_IV	B1B1F9	Silent	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.L384	ENST00000358763.2	37	c.1152	CCDS13908.1	22																																																																																			SYN3	-	pfam_Synapsin_ATP-bd_dom		0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			32924939	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	silent	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152651255	152651255	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:152651255C>T	ENST00000367255.5	-	78	15166	c.14565G>A	c.(14563-14565)agG>agA	p.R4855R	SYNE1_ENST00000265368.4_Silent_p.R4855R|SYNE1_ENST00000448038.1_Silent_p.R4784R|SYNE1_ENST00000423061.1_Silent_p.R4784R|SYNE1_ENST00000341594.5_Silent_p.R4602R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4855					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATCTGATGCCTGGCTTTCT	0.493										HNSCC(10;0.0054)																																							0													76.0	66.0	69.0					6																	152651255		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14565G>A	6.37:g.152651255C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R4855	ENST00000367255.5	37	c.14565	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152651255	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.067	T
TANC1	85461	genome.wustl.edu	37	2	160031609	160031609	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:160031609G>A	ENST00000263635.6	+	12	1886	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	TANC1_ENST00000454300.1_Missense_Mutation_p.S444N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	550					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACTACAGAGCATGCTGAGC	0.582																																																	0													84.0	87.0	86.0					2																	160031609		1985	4159	6144	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1649G>A	2.37:g.160031609G>A	ENSP00000263635:p.Ser550Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S550N	ENST00000263635.6	37	c.1649	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727384	0.69074	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.71579	-0.56;-0.58	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.69358	2.11	0.58432	D	0.999998	D;D;B	0.67145	0.993;0.996;0.093	P;P;B	0.61477	0.777;0.889;0.074	T	0.81006	-0.1128	10	0.46703	T	0.11	.	20.142	0.98061	0.0:0.0:1.0:0.0	.	542;444;550	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	N	444;550	ENSP00000396339:S444N;ENSP00000263635:S550N	ENSP00000263635:S550N	S	+	2	0	TANC1	159739855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.660000	0.68018	2.754000	0.94517	0.655000	0.94253	AGC	TANC1	-	NULL		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160031609	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	A
TBC1D8B	54885	genome.wustl.edu	37	X	106116848	106116848	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:106116848G>C	ENST00000357242.5	+	21	3190	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D1000H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1006							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTTCATGAGGACCCTGAAGA	0.358																																																	0													98.0	98.0	98.0					X																	106116848		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3016G>C	X.37:g.106116848G>C	ENSP00000349781:p.Asp1006His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.D1006H	ENST00000357242.5	37	c.3016	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569175	0.45798	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.09911	2.93;2.93	5.72	3.84	0.44239	.	0.175255	0.48286	D	0.000195	T	0.14743	0.0356	M	0.74467	2.265	0.44771	D	0.997775	B	0.30741	0.293	B	0.28385	0.089	T	0.02371	-1.1169	10	0.66056	D	0.02	-7.0931	11.1009	0.48174	0.0832:0.1397:0.777:0.0	.	1006	Q0IIM8	TBC8B_HUMAN	H	1006;1000	ENSP00000349781:D1006H;ENSP00000276175:D1000H	ENSP00000276175:D1000H	D	+	1	0	TBC1D8B	106003504	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	5.302000	0.65733	1.162000	0.42619	0.594000	0.82650	GAC	TBC1D8B	-	NULL		0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	G	NM_017752		106116848	+1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	0.993	C
TCL6	27004	genome.wustl.edu	37	14	96129713	96129713	+	RNA	SNP	G	G	C	rs569215672	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr14:96129713G>C	ENST00000467865.1	+	0	121				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ACtcacagaggagcagaatgg	0.458			T	TRA@	T-ALL																																			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0																																												27004			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96129713G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-		0.458	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	G	NM_012468		96129713	+1	no_errors	ENST00000352367	ensembl	human	known	70_37	rna	SNP	0.049	C
TDRD10	126668	genome.wustl.edu	37	1	154520221	154520221	+	3'UTR	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:154520221G>T	ENST00000368480.3	+	0	1374				TDRD10_ENST00000368482.4_3'UTR|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTCCTGTTTGCCACGGATCC	0.517																																																	0													80.0	78.0	79.0					1																	154520221		2203	4300	6503	SO:0001624	3_prime_UTR_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.*188G>T	1.37:g.154520221G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	RNA	SNP	-	NULL	ENST00000368480.3	37	NULL	CCDS41406.1	1																																																																																			TDRD10	-	-		0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	G	NM_182499		154520221	+1	no_errors	ENST00000479937	ensembl	human	known	70_37	rna	SNP	0.284	T
THOP1	7064	genome.wustl.edu	37	19	2796129	2796129	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:2796129G>T	ENST00000307741.6	+	4	632	c.429G>T	c.(427-429)gaG>gaT	p.E143D	THOP1_ENST00000586677.1_Missense_Mutation_p.E22D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	143					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACCTGGAGCGGCTAATCA	0.587																																																	0													53.0	46.0	49.0					19																	2796129		2203	4299	6502	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.429G>T	19.37:g.2796129G>T	ENSP00000304467:p.Glu143Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E143D	ENST00000307741.6	37	c.429	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885721	0.17540	.	.	ENSG00000172009	ENST00000307741	T	0.09163	3.01	4.47	0.786	0.18590	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.219354	0.45867	D	0.000321	T	0.08802	0.0218	L	0.55834	1.745	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16188	-1.0411	10	0.21014	T	0.42	-47.5185	6.4531	0.21914	0.1909:0.0:0.6488:0.1603	.	22;143	B4DU96;P52888	.;THOP1_HUMAN	D	143	ENSP00000304467:E143D	ENSP00000304467:E143D	E	+	3	2	THOP1	2747129	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	1.842000	0.39250	0.860000	0.35481	0.563000	0.77884	GAG	THOP1	-	NULL		0.587	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2796129	+1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129190459	129190459	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr12:129190459G>T	ENST00000435159.2	+	9	2946	c.2946G>T	c.(2944-2946)gaG>gaT	p.E982D	TMEM132C_ENST00000537538.1_Missense_Mutation_p.E367D|TMEM132C_ENST00000315208.8_Missense_Mutation_p.E598D	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	982						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AACTCCTGGAGAGCATGGGGG	0.637																																																	0													19.0	27.0	25.0					12																	129190459		692	1591	2283	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2946G>T	12.37:g.129190459G>T	ENSP00000410852:p.Glu982Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Missense_Mutation	SNP	NULL	p.E982D	ENST00000435159.2	37	c.2946		12	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715934	0.30413	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.10573	3.72;3.33;2.86	4.91	3.02	0.34903	.	0.087786	0.47093	N	0.000248	T	0.14399	0.0348	M	0.71581	2.175	0.35817	D	0.824289	B	0.29805	0.257	B	0.36418	0.224	T	0.06899	-1.0801	10	0.38643	T	0.18	.	7.03	0.24962	0.1452:0.2699:0.5848:0.0	.	982	Q8N3T6	T132C_HUMAN	D	982;598;367	ENSP00000410852:E982D;ENSP00000324458:E598D;ENSP00000438477:E367D	ENSP00000324458:E598D	E	+	3	2	TMEM132C	127756412	1.000000	0.71417	0.471000	0.27229	0.001000	0.01503	1.726000	0.38085	0.448000	0.26722	-0.304000	0.09214	GAG	TMEM132C	-	NULL		0.637	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		G	XM_044062		129190459	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	0.956	T
TMEM144	55314	genome.wustl.edu	37	4	159140497	159140497	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr4:159140497C>G	ENST00000296529.6	+	6	888	c.368C>G	c.(367-369)tCa>tGa	p.S123*	TMEM144_ENST00000514558.1_Nonsense_Mutation_p.S123*	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	123						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GAAGAAGTATCAAATCCGCTG	0.368																																																	0													150.0	150.0	150.0					4																	159140497		2203	4300	6503	SO:0001587	stop_gained	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.368C>G	4.37:g.159140497C>G	ENSP00000296529:p.Ser123*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP24|Q49A05|Q9NUT3	Nonsense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.S123*	ENST00000296529.6	37	c.368	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830510	0.91036	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558	.	.	.	5.77	5.77	0.91146	.	0.673386	0.14934	N	0.289921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-27.2937	19.1176	0.93348	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000296529:S123X	S	+	2	0	TMEM144	159359947	0.261000	0.24063	0.021000	0.16686	0.343000	0.28985	4.642000	0.61383	2.884000	0.98904	0.655000	0.94253	TCA	TMEM144	-	pfam_DUF1632_TMEM144		0.368	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1	C	NM_018342		159140497	+1	no_errors	ENST00000296529	ensembl	human	known	70_37	nonsense	SNP	0.756	G
TOX	9760	genome.wustl.edu	37	8	59872531	59872531	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:59872531G>T	ENST00000361421.1	-	2	359	c.139C>A	c.(139-141)Ccg>Acg	p.P47T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	47						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCCTGGCTCGGCTCTGTCATG	0.388																																					Pancreas(161;610 1969 17913 21374 22725)												0													97.0	91.0	93.0					8																	59872531		2203	4300	6503	SO:0001583	missense	9760				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.139C>A	8.37:g.59872531G>T	ENSP00000354842:p.Pro47Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AV5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P47T	ENST00000361421.1	37	c.139	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887225	0.52014	.	.	ENSG00000198846	ENST00000361421	T	0.11495	2.77	5.88	5.88	0.94601	.	0.087598	0.50627	D	0.000117	T	0.29061	0.0722	L	0.46157	1.445	0.58432	D	0.999993	D	0.89917	1.0	D	0.79108	0.992	T	0.00083	-1.2102	9	.	.	.	.	20.2279	0.98344	0.0:0.0:1.0:0.0	.	47	O94900	TOX_HUMAN	T	47	ENSP00000354842:P47T	.	P	-	1	0	TOX	60035085	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.842000	0.86851	2.778000	0.95560	0.655000	0.94253	CCG	TOX	-	NULL		0.388	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	G	NM_014729		59872531	-1	no_errors	ENST00000361421	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIM67	440730	genome.wustl.edu	37	1	231298820	231298820	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:231298820G>A	ENST00000366653.5	+	1	105	c.105G>A	c.(103-105)gcG>gcA	p.A35A	TRIM67_ENST00000444294.3_Silent_p.A35A|TRIM67_ENST00000449018.3_Silent_p.A35A|TRIM67_ENST00000366652.2_Silent_p.A35A			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	35					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCACCATCGCGGTGCAGACCC	0.682																																																	0													26.0	27.0	27.0					1																	231298820		2039	4197	6236	SO:0001819	synonymous_variant	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.105G>A	1.37:g.231298820G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A35	ENST00000366653.5	37	c.105	CCDS44333.1	1																																																																																			TRIM67	-	smart_Znf_RING		0.682	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231298820	+1	no_errors	ENST00000366652	ensembl	human	known	70_37	silent	SNP	0.955	A
TRIM72	493829	genome.wustl.edu	37	16	31235905	31235905	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr16:31235905C>T	ENST00000322122.3	+	7	1547	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCTTCGGCGACGGCGTCCTCT	0.682																																																	0													10.0	8.0	9.0					16																	31235905		2127	4191	6318	SO:0001819	synonymous_variant	493829			AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.1263C>T	16.37:g.31235905C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D421	ENST00000322122.3	37	c.1263	CCDS32437.1	16																																																																																			TRIM72	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.682	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000433567.1	C	NM_001008274		31235905	+1	no_errors	ENST00000322122	ensembl	human	known	70_37	silent	SNP	0.982	T
TRIOBP	11078	genome.wustl.edu	37	22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647																																																	0													30.0	35.0	33.0					22																	38119251		2053	4177	6230	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.688G>A	22.37:g.38119251G>A	ENSP00000384312:p.Gly230Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G230R	ENST00000406386.3	37	c.688	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755843	0.15846	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29917	1.55	4.74	1.45	0.22620	.	.	.	.	.	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.21109	-1.0255	9	0.66056	D	0.02	.	4.2708	0.10785	0.2696:0.0:0.5734:0.157	.	230	Q9H2D6	TARA_HUMAN	R	230	ENSP00000384312:G230R	ENSP00000384312:G230R	G	+	1	0	TRIOBP	36449197	0.006000	0.16342	0.021000	0.16686	0.137000	0.21094	0.354000	0.20146	0.456000	0.26937	-0.381000	0.06696	GGG	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38119251	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.001	A
TROVE2	6738	genome.wustl.edu	37	1	193053997	193053997	+	3'UTR	DEL	A	A	-	rs201693727|rs549404223		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr1:193053997delA	ENST00000367446.3	+	0	1963				TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000400968.2_3'UTR|TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367443.1_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACCTTACTGAAAAAAAAAAA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*136A>-	1.37:g.193053997delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-		0.358	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	A	NM_004600		193053997	+1	no_errors	ENST00000460715	ensembl	human	known	70_37	rna	DEL	0.000	-
TRPV3	162514	genome.wustl.edu	37	17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:3438998G>T	ENST00000576742.1	-	7	974	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_ENST00000301365.4_Missense_Mutation_p.A218E|TRPV3_ENST00000572519.1_Missense_Mutation_p.A218E	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	218					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGTTCAGCGCCGTCTGCCC	0.736																																																	0													8.0	9.0	9.0					17																	3438998		2163	4231	6394	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.653C>A	17.37:g.3438998G>T	ENSP00000461518:p.Ala218Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.A218E	ENST00000576742.1	37	c.653	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.688246	0.96784	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.71341	-0.56	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.89491	0.6730	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.997;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.91635	0.979;0.993;0.933;0.993;0.999;0.999;0.89	D	0.92506	0.6012	10	0.87932	D	0	-11.7793	18.2979	0.90153	0.0:0.0:1.0:0.0	.	202;202;218;202;218;218;218	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	E	218;218;202	ENSP00000301365:A218E	ENSP00000301365:A218E	A	-	2	0	TRPV3	3385748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.422000	0.97458	2.741000	0.93983	0.555000	0.69702	GCG	TRPV3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.736	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	G	NM_145068		3438998	-1	no_errors	ENST00000301365	ensembl	human	known	70_37	missense	SNP	1.000	T
TSPEAR	54084	genome.wustl.edu	37	21	45953608	45953608	+	Missense_Mutation	SNP	C	C	T	rs370848096	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr21:45953608C>T	ENST00000323084.4	-	3	567	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	TSPEAR_ENST00000397916.1_Missense_Mutation_p.V100I	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	168	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGGAGAAGACGCCTGCGGAC	0.697													C|||	2	0.000399361	0.0	0.0	5008	,	,		12838	0.0		0.0	False		,,,				2504	0.002																0													25.0	25.0	25.0					21																	45953608		2192	4291	6483	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.502G>A	21.37:g.45953608C>T	ENSP00000321987:p.Val168Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.V168I	ENST00000323084.4	37	c.502	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	c	1.389	-0.581309	0.03854	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.43688	0.94;0.94	4.99	-0.667	0.11395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.779066	0.12485	N	0.464779	T	0.15912	0.0383	N	0.03608	-0.345	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.26155	-1.0111	10	0.16896	T	0.51	3.2862	6.7678	0.23576	0.4228:0.2357:0.0:0.3415	.	168	Q8WU66	TSEAR_HUMAN	I	168;100;168	ENSP00000321987:V168I;ENSP00000381012:V100I	ENSP00000321987:V168I	V	-	1	0	TSPEAR	44778036	0.995000	0.38212	0.012000	0.15200	0.000000	0.00434	3.040000	0.49799	-0.754000	0.04715	-2.269000	0.00276	GTC	TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.697	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45953608	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	0.013	T
TSTD2	158427	genome.wustl.edu	37	9	100368457	100368457	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:100368457G>C	ENST00000341170.4	-	7	1304	c.922C>G	c.(922-924)Ctt>Gtt	p.L308V	TSTD2_ENST00000354801.2_Missense_Mutation_p.L48V	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	308	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CTGCAATCAAGAAGGATAGTA	0.353																																																	0													116.0	115.0	115.0					9																	100368457		2203	4300	6503	SO:0001583	missense	158427			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.922C>G	9.37:g.100368457G>C	ENSP00000342499:p.Leu308Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L308V	ENST00000341170.4	37	c.922	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350544	0.61183	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.29655	1.56;1.56;1.56	5.18	2.35	0.29111	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	L	0.46819	1.47	0.40829	D	0.983575	P;D	0.63046	0.952;0.992	P;D	0.66716	0.664;0.946	T	0.24764	-1.0151	10	0.44086	T	0.13	-7.31	10.1505	0.42791	0.2254:0.0:0.7746:0.0	.	82;308	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	V	82;308;48;48	ENSP00000342499:L308V;ENSP00000364308:L48V;ENSP00000346856:L48V	ENSP00000342499:L308V	L	-	1	0	TSTD2	99408278	0.999000	0.42202	0.995000	0.50966	0.997000	0.91878	2.818000	0.48041	0.852000	0.35287	0.655000	0.94253	CTT	TSTD2	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.353	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	G	NM_139246		100368457	-1	no_errors	ENST00000341170	ensembl	human	known	70_37	missense	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179452396	179452396	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr2:179452396C>T	ENST00000591111.1	-	256	58941	c.58717G>A	c.(58717-58719)Gat>Aat	p.D19573N	TTN_ENST00000359218.5_Missense_Mutation_p.D12274N|TTN_ENST00000460472.2_Missense_Mutation_p.D12149N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D21214N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12341N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18646N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19573	Ig-like 109.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACATTATCAATGCCAACT	0.458																																																	0													78.0	75.0	76.0					2																	179452396		1948	4152	6100	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58717G>A	2.37:g.179452396C>T	ENSP00000465570:p.Asp19573Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D18646N	ENST00000591111.1	37	c.55936		2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139631	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78799	0.4340	L	0.43598	1.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78881	-0.2029	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12149;12274;12341;19573	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	18646;12149;12341;12274;12147	ENSP00000343764:D18646N;ENSP00000434586:D12149N;ENSP00000340554:D12341N;ENSP00000352154:D12274N	ENSP00000340554:D12341N	D	-	1	0	TTN	179160642	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179452396	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUSC1	286319	genome.wustl.edu	37	9	25677836	25677836	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr9:25677836C>G	ENST00000358022.3	-	1	1020	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	162										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		TCCAGCTTCTCAAGTCGGGCC	0.701																																					Pancreas(19;648 672 25630 30820 31331)												0													7.0	9.0	8.0					9																	25677836		2114	4182	6296	SO:0001583	missense	286319			AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.484G>C	9.37:g.25677836C>G	ENSP00000350716:p.Glu162Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Missense_Mutation	SNP	NULL	p.E162Q	ENST00000358022.3	37	c.484	CCDS34999.1	9	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663612	0.47572	.	.	ENSG00000198680	ENST00000358022	T	0.52057	0.68	3.66	2.74	0.32292	.	0.600804	0.13456	U	0.386493	T	0.39784	0.1091	N	0.19112	0.55	0.25215	N	0.989946	D	0.55385	0.971	P	0.52343	0.696	T	0.18023	-1.0350	10	0.15499	T	0.54	-0.8627	10.1065	0.42537	0.0:0.7955:0.2045:0.0	.	162	Q2TAM9	TUSC1_HUMAN	Q	162	ENSP00000350716:E162Q	ENSP00000350716:E162Q	E	-	1	0	TUSC1	25667836	0.599000	0.26891	0.814000	0.32528	0.988000	0.76386	0.892000	0.28322	0.473000	0.27368	0.462000	0.41574	GAG	TUSC1	-	NULL		0.701	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUSC1	HGNC	protein_coding	OTTHUMT00000356351.1	C	NM_001004125		25677836	-1	no_errors	ENST00000358022	ensembl	human	known	70_37	missense	SNP	0.901	G
UBA2	10054	genome.wustl.edu	37	19	34936007	34936007	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:34936007C>T	ENST00000246548.4	+	8	822	c.752C>T	c.(751-753)cCa>cTa	p.P251L	UBA2_ENST00000439527.2_Missense_Mutation_p.P155L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	251					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGATATGATCCAGTTAAACTT	0.343																																																	0													84.0	84.0	84.0					19																	34936007		2203	4300	6503	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.752C>T	19.37:g.34936007C>T	ENSP00000246548:p.Pro251Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.P251L	ENST00000246548.4	37	c.752	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324894	0.81580	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.58940	0.3;1.46	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.69248	2.105	0.80722	D	1	P	0.47762	0.9	B	0.43575	0.424	T	0.57087	-0.7871	10	0.19147	T	0.46	-12.9338	18.524	0.90965	0.0:1.0:0.0:0.0	.	251	Q9UBT2	SAE2_HUMAN	L	124;251;155	ENSP00000246548:P251L;ENSP00000437484:P155L	ENSP00000246548:P251L	P	+	2	0	UBA2	39627847	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.901000	0.75693	2.736000	0.93811	0.591000	0.81541	CCA	UBA2	-	superfamily_Molybdenum_cofac_synth_MoeB		0.343	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	C	NM_005499		34936007	+1	no_errors	ENST00000246548	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103269876	103269876	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr8:103269876G>T	ENST00000520539.1	-	58	8777	c.8171C>A	c.(8170-8172)aCa>aAa	p.T2724K	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000220959.4_Missense_Mutation_p.T2723K|UBR5_ENST00000521922.1_Missense_Mutation_p.T2717K|UBR5_ENST00000518205.1_Missense_Mutation_p.T452K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2724	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T2724I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTCGTTCTGTCATGCTCAT	0.328																																					Ovarian(131;96 1741 5634 7352 27489)												1	Substitution - Missense(1)	large_intestine(1)											89.0	82.0	84.0					8																	103269876		2202	4300	6502	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8171C>A	8.37:g.103269876G>T	ENSP00000429084:p.Thr2724Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.T2724K	ENST00000520539.1	37	c.8171	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824080	0.71143	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.47	5.47	0.80525	HECT (4);	0.204743	0.39341	N	0.001387	T	0.22475	0.0542	N	0.02368	-0.58	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.28385	0.089;0.089	T	0.16541	-1.0399	10	0.07325	T	0.83	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	2717;2724	E7EMW7;O95071	.;UBR5_HUMAN	K	2724;2723;452;2717	ENSP00000429084:T2724K;ENSP00000220959:T2723K;ENSP00000428693:T452K;ENSP00000427819:T2717K	ENSP00000220959:T2723K	T	-	2	0	UBR5	103339052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.578000	0.87016	0.585000	0.79938	ACA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103269876	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC13A	23025	genome.wustl.edu	37	19	17716873	17716873	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:17716873G>T	ENST00000519716.2	-	44	5101	c.5102C>A	c.(5101-5103)cCt>cAt	p.P1701H	UNC13A_ENST00000551649.1_Missense_Mutation_p.P1720H|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1695H|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1701H|UNC13A_ENST00000428389.2_Missense_Mutation_p.P1789H|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1674H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1701					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTAAGGCGCAGGCGCGGCACC	0.736																																																	0													7.0	7.0	7.0					19																	17716873		1771	3872	5643	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.5102C>A	19.37:g.17716873G>T	ENSP00000429562:p.Pro1701His	Somatic		WXS	Illumina HiSeq	Phase_IV	E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P1789H	ENST00000519716.2	37	c.5366	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163443	0.78226	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82433	-1.55;-1.61;-1.55;-1.32;-1.31;-1.54	2.88	2.88	0.33553	.	0.175728	0.25347	U	0.031337	T	0.74107	0.3673	N	0.14661	0.345	0.27679	N	0.946514	P	0.52316	0.952	P	0.48189	0.57	T	0.70189	-0.4940	10	0.72032	D	0.01	-3.8577	11.5816	0.50894	0.0:0.0:1.0:0.0	.	1701	Q9UPW8	UN13A_HUMAN	H	1701;1789;1701;1720;1695;1674	ENSP00000429562:P1701H;ENSP00000400409:P1789H;ENSP00000252773:P1701H;ENSP00000447236:P1720H;ENSP00000447572:P1695H;ENSP00000446831:P1674H	ENSP00000252773:P1701H	P	-	2	0	UNC13A	17577873	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.275000	0.72594	1.617000	0.50277	0.306000	0.20318	CCT	UNC13A	-	NULL		0.736	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17716873	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC93A	54346	genome.wustl.edu	37	6	167711437	167711437	+	Silent	SNP	C	C	A	rs192022113	byFrequency	TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr6:167711437C>A	ENST00000230256.3	+	4	679	c.504C>A	c.(502-504)acC>acA	p.T168T	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCATAGAGACCCTTCCAGAAG	0.532																																																	0													134.0	120.0	124.0					6																	167711437		2203	4300	6503	SO:0001819	synonymous_variant	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.504C>A	6.37:g.167711437C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.T168	ENST00000230256.3	37	c.504	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.532	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167711437	+1	no_errors	ENST00000230256	ensembl	human	known	70_37	silent	SNP	0.000	A
USP51	158880	genome.wustl.edu	37	X	55515182	55515182	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chrX:55515182C>T	ENST00000500968.3	-	2	273	c.191G>A	c.(190-192)cGt>cAt	p.R64H	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	64					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CGCGGGCTCACGCTCTTGTAA	0.642																																																	0													31.0	30.0	31.0					X																	55515182		2203	4299	6502	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.191G>A	X.37:g.55515182C>T	ENSP00000423333:p.Arg64His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R64H	ENST00000500968.3	37	c.191	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	0.216	-1.032326	0.02029	.	.	ENSG00000247746	ENST00000500968	T	0.43688	0.94	2.52	-5.05	0.02955	.	.	.	.	.	T	0.13072	0.0317	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08006	-1.0743	9	0.35671	T	0.21	.	0.7911	0.01057	0.2175:0.1299:0.2536:0.399	.	64	Q70EK9	UBP51_HUMAN	H	64	ENSP00000423333:R64H	ENSP00000423333:R64H	R	-	2	0	USP51	55531907	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.928000	0.00332	-4.162000	0.00068	-0.711000	0.03637	CGT	USP51	-	NULL		0.642	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55515182	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	0.000	T
USP6	9098	genome.wustl.edu	37	17	5042423	5042423	+	Intron	SNP	T	T	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:5042423T>C	ENST00000574788.1	+	22	3308				USP6_ENST00000250066.6_Intron|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.V25A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6						cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGCGTGTCGTCAGTGTCAGA	0.652			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													34.0	35.0	35.0					17																	5042423		876	1991	2867	SO:0001627	intron_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1079-127T>C	17.37:g.5042423T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V25A	ENST00000574788.1	37	c.74	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	T	3.179	-0.168411	0.06461	.	.	ENSG00000129204	ENST00000304328	T	0.14022	2.54	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	7	0.87932	D	0	.	.	.	.	.	25	P35125-2	.	A	25	ENSP00000305473:V25A	ENSP00000305473:V25A	V	+	2	0	USP6	4983147	0.313000	0.24554	0.022000	0.16811	0.023000	0.10783	-0.181000	0.09740	0.115000	0.18071	0.113000	0.15668	GTC	USP6	-	NULL		0.652	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	T	NM_004505		5042423	+1	no_errors	ENST00000304328	ensembl	human	known	70_37	missense	SNP	0.024	C
VCAN	1462	genome.wustl.edu	37	5	82818048	82818048	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr5:82818048C>G	ENST00000265077.3	+	7	4488	c.3923C>G	c.(3922-3924)tCt>tGt	p.S1308C	VCAN_ENST00000342785.4_Missense_Mutation_p.S1308C|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S1260C|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1308	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGGCGCTTTCTACGCCACAG	0.443																																																	0													59.0	60.0	60.0					5																	82818048		2203	4299	6502	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3923C>G	5.37:g.82818048C>G	ENSP00000265077:p.Ser1308Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1308C	ENST00000265077.3	37	c.3923	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585133	0.28268	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.89617	-2.54;-2.27;-2.29	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000007	D	0.93726	0.7995	M	0.74258	2.255	0.33459	D	0.584719	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95800	0.8832	10	0.87932	D	0	.	13.2992	0.60315	0.0:0.9281:0.0:0.0719	.	1308;1308	P13611-3;P13611	.;CSPG2_HUMAN	C	1308;1308;1260	ENSP00000265077:S1308C;ENSP00000342768:S1308C;ENSP00000425959:S1260C	ENSP00000265077:S1308C	S	+	2	0	VCAN	82853804	0.997000	0.39634	0.485000	0.27403	0.003000	0.03518	3.573000	0.53856	2.756000	0.94617	0.655000	0.94253	TCT	VCAN	-	NULL		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82818048	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.760	G
VPS16	64601	genome.wustl.edu	37	20	2843296	2843296	+	Silent	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr20:2843296G>A	ENST00000380445.3	+	12	1215	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.Q35Q	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	381					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGCCGTGCAGCAGTGCATTG	0.657																																																	0													42.0	46.0	45.0					20																	2843296		2203	4300	6503	SO:0001819	synonymous_variant	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1143G>A	20.37:g.2843296G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.Q381	ENST00000380445.3	37	c.1143	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16		0.657	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	G	NM_022575		2843296	+1	no_errors	ENST00000380445	ensembl	human	known	70_37	silent	SNP	1.000	A
STX8	9482	genome.wustl.edu	37	17	9480072	9480072	+	5'Flank	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr17:9480072C>G	ENST00000306357.4	-	0	0				WDR16_ENST00000396219.3_Missense_Mutation_p.I20M|WDR16_ENST00000352665.5_Missense_Mutation_p.I20M|STX8_ENST00000574431.1_5'Flank|STX8_ENST00000573373.1_5'Flank|WDR16_ENST00000576499.1_Missense_Mutation_p.I20M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						ACGCCGTGATCGGCTTCAATG	0.547											OREG0024167	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56.0	66.0	63.0					17																	9480072		1943	4151	6094	SO:0001631	upstream_gene_variant	146845			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844		17.37:g.9480072C>G	Exception_encountered	Somatic	657	WXS	Illumina HiSeq	Phase_IV	O60712|Q53XT8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I20M	ENST00000306357.4	37	c.60	CCDS32565.1	17	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697721	0.30142	.	.	ENSG00000166596	ENST00000352665;ENST00000396219	T;T	0.36340	1.26;1.53	5.67	2.15	0.27550	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.54727	0.1876	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.85130	0.997;0.897	T	0.55528	-0.8127	9	0.66056	D	0.02	.	9.6655	0.39981	0.0:0.733:0.0:0.267	.	20;20	Q8N1V2-3;Q8N1V2	.;WDR16_HUMAN	M	20	ENSP00000339449:I20M;ENSP00000379521:I20M	ENSP00000339449:I20M	I	+	3	3	WDR16	9420797	0.974000	0.33945	1.000000	0.80357	0.999000	0.98932	-0.174000	0.09839	0.738000	0.32606	0.655000	0.94253	ATC	WDR16	-	superfamily_WD40_repeat_dom		0.547	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000439206.3	C	NM_004853		9480072	+1	no_errors	ENST00000352665	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR7	23335	genome.wustl.edu	37	18	54350029	54350029	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr18:54350029G>C	ENST00000254442.3	+	5	676	c.465G>C	c.(463-465)aaG>aaC	p.K155N	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.K155N	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	155					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGTATCAAAGATATCACCAG	0.428																																																	0													140.0	129.0	132.0					18																	54350029		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.465G>C	18.37:g.54350029G>C	ENSP00000254442:p.Lys155Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K155N	ENST00000254442.3	37	c.465	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654164	0.88056	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.55760	0.5;0.5	4.72	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	L	0.51422	1.61	0.80722	D	1	D;D	0.64830	0.963;0.994	P;P	0.56434	0.798;0.795	T	0.62243	-0.6895	10	0.40728	T	0.16	.	17.6246	0.88091	0.0:0.0:1.0:0.0	.	155;155	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	155	ENSP00000254442:K155N;ENSP00000350187:K155N	ENSP00000254442:K155N	K	+	3	2	WDR7	52501027	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.795000	0.85887	2.327000	0.79052	0.514000	0.50259	AAG	WDR7	-	superfamily_Quinonprotein_ADH-like		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	G			54350029	+1	no_errors	ENST00000254442	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB16	7704	genome.wustl.edu	37	11	113934839	113934839	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr11:113934839G>A	ENST00000335953.4	+	2	1197	c.817G>A	c.(817-819)Gag>Aag	p.E273K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E273K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	273					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGACAAGGTTGAGGAAAGAGG	0.617																																																	0													45.0	39.0	41.0					11																	113934839		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.817G>A	11.37:g.113934839G>A	ENSP00000338157:p.Glu273Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E273K	ENST00000335953.4	37	c.817	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579174	0.46006	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.10382	2.88;2.88	5.63	5.63	0.86233	.	0.108017	0.64402	D	0.000006	T	0.08044	0.0201	N	0.08118	0	0.45097	D	0.998114	B;B	0.30482	0.18;0.281	B;B	0.30105	0.016;0.111	T	0.39941	-0.9589	10	0.40728	T	0.16	-17.7542	19.679	0.95950	0.0:0.0:1.0:0.0	.	273;278	Q05516;Q59H43	ZBT16_HUMAN;.	K	273	ENSP00000338157:E273K;ENSP00000376721:E273K	ENSP00000338157:E273K	E	+	1	0	ZBTB16	113440049	1.000000	0.71417	0.928000	0.36995	0.563000	0.35712	6.537000	0.73847	2.651000	0.90000	0.655000	0.94253	GAG	ZBTB16	-	NULL		0.617	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113934839	+1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	0.999	A
ZC3H7B	23264	genome.wustl.edu	37	22	41752398	41752398	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr22:41752398G>A	ENST00000352645.4	+	21	2692	c.2435G>A	c.(2434-2436)gGa>gAa	p.G812E	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G812E	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	828					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CACAACCCAGGAAAGCCTGGA	0.597																																																	0													143.0	134.0	137.0					22																	41752398		2203	4300	6503	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2435G>A	22.37:g.41752398G>A	ENSP00000345793:p.Gly812Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G812E	ENST00000352645.4	37	c.2435	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339981	0.11069	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11063	2.81;2.81	5.05	5.05	0.67936	.	0.356387	0.30949	N	0.008543	T	0.05090	0.0136	N	0.05306	-0.075	0.37563	D	0.919153	B	0.25521	0.128	B	0.25405	0.06	T	0.36939	-0.9727	10	0.08837	T	0.75	-29.213	12.202	0.54331	0.0787:0.0:0.9213:0.0	.	812	Q9UGR2-2	.	E	812	ENSP00000345793:G812E;ENSP00000263243:G812E	ENSP00000263243:G812E	G	+	2	0	ZC3H7B	40082344	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.608000	0.46308	2.529000	0.85273	0.655000	0.94253	GGA	ZC3H7B	-	NULL		0.597	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41752398	+1	no_errors	ENST00000351589	ensembl	human	known	70_37	missense	SNP	1.000	A
ZKSCAN5	23660	genome.wustl.edu	37	7	99103863	99103863	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr7:99103863G>A	ENST00000394170.2	+	2	447	c.196G>A	c.(196-198)Gag>Aag	p.E66K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E66K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E66K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGACCCCGGGAGGCTCTCAG	0.592																																																	0													72.0	74.0	73.0					7																	99103863		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.196G>A	7.37:g.99103863G>A	ENSP00000377725:p.Glu66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E66K	ENST00000394170.2	37	c.196	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203867	0.79127	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170;ENST00000439985	T;T;T	0.08634	3.07;3.07;3.07	4.93	4.93	0.64822	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.507451	0.18098	N	0.151761	T	0.14657	0.0354	M	0.66939	2.045	0.29549	N	0.851512	B;B	0.30542	0.284;0.284	B;B	0.35770	0.21;0.21	T	0.02126	-1.1209	10	0.72032	D	0.01	.	13.8578	0.63540	0.0:0.0:1.0:0.0	.	66;66	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	66;66;66;66;14	ENSP00000322872:E66K;ENSP00000392104:E66K;ENSP00000377725:E66K	ENSP00000322872:E66K	E	+	1	0	ZKSCAN5	98941799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.335000	0.52105	2.735000	0.93741	0.561000	0.74099	GAG	ZKSCAN5	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.592	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	G	NM_014569		99103863	+1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF257	113835	genome.wustl.edu	37	19	22271011	22271011	+	Silent	SNP	C	C	G			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:22271011C>G	ENST00000594947.1	+	4	603	c.459C>G	c.(457-459)gtC>gtG	p.V153V	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGTAAAAGTCTTCTATAAGT	0.323																																																	0													47.0	51.0	50.0					19																	22271011		2178	4285	6463	SO:0001819	synonymous_variant	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.459C>G	19.37:g.22271011C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPS4|E9PG34|Q8NE34	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.V153	ENST00000594947.1	37	c.459	CCDS46030.1	19																																																																																			ZNF257	-	NULL		0.323	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271011	+1	no_errors	ENST00000594947	ensembl	human	known	70_37	silent	SNP	0.000	G
ZNF234	10780	genome.wustl.edu	37	19	44662099	44662099	+	Nonsense_Mutation	SNP	C	C	T	rs537418600		TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:44662099C>T	ENST00000426739.2	+	6	2188	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.R644*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	644					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.R644*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTATCATAGGCGAGTTCACAC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20213	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	prostate(1)											103.0	108.0	106.0					19																	44662099		2165	4282	6447	SO:0001587	stop_gained	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1930C>T	19.37:g.44662099C>T	ENSP00000400878:p.Arg644*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R644*	ENST00000426739.2	37	c.1930	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.709701	0.97780	.	.	ENSG00000167380	ENST00000426739	.	.	.	4.01	-5.61	0.02489	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1468	0.54028	0.7476:0.1546:0.0978:0.0	.	.	.	.	X	644	.	ENSP00000400878:R644X	R	+	1	2	ZNF226	49353939	0.000000	0.05858	0.002000	0.10522	0.985000	0.73830	-1.319000	0.02702	-0.595000	0.05828	0.585000	0.79938	CGA	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44662099	+1	no_errors	ENST00000426739	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZNF85	7639	genome.wustl.edu	37	19	21132636	21132636	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:21132636C>T	ENST00000328178.8	+	4	1429	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	ZNF85_ENST00000345030.6_Missense_Mutation_p.S406L|ZNF85_ENST00000601023.1_Missense_Mutation_p.S380L	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	439					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACCAATCCTCAAAACTTACT	0.328																																																	0													21.0	22.0	22.0					19																	21132636		2199	4288	6487	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1316C>T	19.37:g.21132636C>T	ENSP00000329793:p.Ser439Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP4|Q6NVI0	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.S439L	ENST00000328178.8	37	c.1316	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	6.571	0.473687	0.12521	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07444	3.19;3.19	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	M	0.62266	1.93	0.09310	N	0.999999	D;D;P	0.65815	0.995;0.967;0.877	P;D;P	0.63597	0.844;0.916;0.667	T	0.04440	-1.0951	9	0.66056	D	0.02	.	9.5712	0.39429	0.0:1.0:0.0:0.0	.	406;380;439	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	L	439;406;314	ENSP00000329793:S439L;ENSP00000342340:S406L	ENSP00000329793:S439L	S	+	2	0	ZNF85	20924476	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.627000	0.05521	0.681000	0.31386	0.462000	0.41574	TCA	ZNF85	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	C	NM_003429		21132636	+1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF548	147694	genome.wustl.edu	37	19	57910879	57910879	+	Silent	SNP	C	C	T			TCGA-EK-A2RB-01A-11D-A18J-09	TCGA-EK-A2RB-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f7ace06-cf96-4991-97de-56125566dc98	678d2d3e-04d3-499b-bc79-158fc6c1ff7c	g.chr19:57910879C>T	ENST00000366197.5	+	3	1474	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	ZNF548_ENST00000336128.7_Silent_p.L420L|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGCAGGCTCATTAGACACC	0.443																																																	0													63.0	64.0	64.0					19																	57910879		2203	4300	6503	SO:0001819	synonymous_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1224C>T	19.37:g.57910879C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M05	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.L420	ENST00000366197.5	37	c.1260	CCDS46209.1	19																																																																																			ZNF548	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	C	NM_152909		57910879	+1	no_errors	ENST00000336128	ensembl	human	known	70_37	silent	SNP	0.005	T
