#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAD2	161931	hgsc.bcm.edu	37	16	84227694	84227694	+	Intron	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr16:84227694C>A	ENST00000315906.5	+	2	470				RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.F167L	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCAGAGCCTTCCTCCTGAGAA	0.512																																																	0													78.0	75.0	76.0					16																	84227694		2200	4300	6500	SO:0001627	intron_variant	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.419-354C>A	16.37:g.84227694C>A			B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243818	0.22796	.	.	ENSG00000140955	ENST00000268624	T	0.17528	2.27	2.4	0.278	0.15673	.	8.667150	0.00166	N	0.000004	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21930	-1.0231	10	0.23302	T	0.38	.	3.4435	0.07472	0.0:0.5649:0.2715:0.1635	.	167	Q8NCV1-2	.	L	167	ENSP00000268624:F167L	ENSP00000268624:F167L	F	+	3	2	ADAD2	82785195	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.124000	0.10595	0.095000	0.17434	0.561000	0.74099	TTC		0.512	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1		NM_139174	
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133102	119133102	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:119133102A>C	ENST00000264245.4	+	12	2858	c.2326A>C	c.(2326-2328)Aat>Cat	p.N776H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	776	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGGCCCAGGCAATCTGTCTCC	0.587																																					Pancreas(7;176 297 5394 51128 51241)												0													54.0	58.0	57.0					3																	119133102		1947	4148	6095	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2326A>C	3.37:g.119133102A>C	ENSP00000264245:p.Asn776His		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618970	0.46736	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08008	3.14	5.3	4.14	0.48551	.	0.363586	0.26522	N	0.023912	T	0.10035	0.0246	L	0.29908	0.895	0.09310	N	1	P	0.47409	0.895	P	0.49708	0.62	T	0.10894	-1.0610	10	0.42905	T	0.14	.	9.1901	0.37193	0.9181:0.0:0.0819:0.0	.	776	Q2M1Z3	RHG31_HUMAN	H	776	ENSP00000264245:N776H	ENSP00000264245:N776H	N	+	1	0	ARHGAP31	120615792	0.095000	0.21747	0.020000	0.16555	0.087000	0.18053	2.074000	0.41529	1.027000	0.39758	0.533000	0.62120	AAT		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			
ATRN	8455	hgsc.bcm.edu	37	20	3627468	3627468	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:3627468C>A	ENST00000262919.5	+	29	4332	c.4264C>A	c.(4264-4266)Cct>Act	p.P1422T		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1422					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCAGCAGCCCCCTGCACAGCC	0.617																																																	0													34.0	31.0	32.0					20																	3627468		2203	4300	6503	SO:0001583	missense	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4264C>A	20.37:g.3627468C>A	ENSP00000262919:p.Pro1422Thr		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241120	0.39598	.	.	ENSG00000088812	ENST00000262919	T	0.05513	3.43	5.77	5.77	0.91146	.	0.231062	0.39759	N	0.001276	T	0.08537	0.0212	L	0.47716	1.5	0.80722	D	1	B	0.20671	0.047	B	0.18561	0.022	T	0.31138	-0.9954	10	0.12766	T	0.61	-11.8276	19.5778	0.95452	0.0:1.0:0.0:0.0	.	1422	O75882	ATRN_HUMAN	T	1422	ENSP00000262919:P1422T	ENSP00000262919:P1422T	P	+	1	0	ATRN	3575468	0.904000	0.30761	1.000000	0.80357	0.996000	0.88848	2.902000	0.48703	2.728000	0.93425	0.655000	0.94253	CCT		0.617	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2		NM_139321	
C10orf12	26148	hgsc.bcm.edu;ucsc.edu	37	10	98741230	98741230	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr10:98741230T>A	ENST00000286067.2	+	1	190	c.83T>A	c.(82-84)aTt>aAt	p.I28N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	28										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCTGTATTATTCCTCAAAGA	0.383																																																	0													78.0	76.0	77.0					10																	98741230		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.83T>A	10.37:g.98741230T>A	ENSP00000286067:p.Ile28Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	4.112	0.019023	0.08006	.	.	ENSG00000155640	ENST00000286067	T	0.06933	3.24	5.95	3.56	0.40772	.	0.705245	0.11957	N	0.513104	T	0.04952	0.0133	N	0.08118	0	0.20307	N	0.999915	P	0.44946	0.846	B	0.41813	0.367	T	0.33777	-0.9855	10	0.66056	D	0.02	-0.7862	5.5777	0.17233	0.0:0.2241:0.1772:0.5988	.	28	Q8N655	CJ012_HUMAN	N	28	ENSP00000286067:I28N	ENSP00000286067:I28N	I	+	2	0	C10orf12	98731220	0.943000	0.32029	0.765000	0.31456	0.005000	0.04900	0.475000	0.22164	0.475000	0.27415	0.533000	0.62120	ATT		0.383	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1		NM_015652	
CACNA1G	8913	hgsc.bcm.edu	37	17	48699064	48699064	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:48699064T>C	ENST00000359106.5	+	35	5969	c.5969T>C	c.(5968-5970)aTt>aCt	p.I1990T	CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I1956T|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1919T|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1979T|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1990					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGTCAGAGATTGTGTCTGAA	0.522																																																	0													135.0	129.0	131.0					17																	48699064		2138	4231	6369	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5969T>C	17.37:g.48699064T>C	ENSP00000352011:p.Ile1990Thr		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	15.01	2.707531	0.48412	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	D;D;D;D	0.97256	-4.05;-4.31;-4.08;-4.08	4.84	4.84	0.62591	.	5.979430	0.00166	N	0.000010	D	0.97284	0.9112	N	0.22421	0.69	0.34194	D	0.672441	B;B;D;B	0.61080	0.004;0.025;0.989;0.017	B;B;D;B	0.72625	0.022;0.039;0.978;0.033	D	0.91120	0.4929	10	0.22109	T	0.4	.	14.4123	0.67121	0.0:0.0:0.0:1.0	.	1919;1979;1967;1990	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	T	1956;1919;1979;1990	ENSP00000347078:I1956T;ENSP00000425522:I1919T;ENSP00000420918:I1979T;ENSP00000352011:I1990T	ENSP00000347078:I1956T	I	+	2	0	CACNA1G	46054063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	1.791000	0.52520	0.460000	0.39030	ATT		0.522	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	
CDKL3	51265	hgsc.bcm.edu;ucsc.edu	37	5	133655130	133655130	+	Silent	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:133655130T>C	ENST00000265334.4	-	6	829	c.711A>G	c.(709-711)gtA>gtG	p.V237V	CDKL3_ENST00000609654.1_Silent_p.V48V|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Silent_p.V237V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Silent_p.V48V|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000522501.1_5'UTR|CDKL3_ENST00000435211.1_Silent_p.V237V|CDKL3_ENST00000521118.1_Silent_p.V237V|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGAAGAACTACCCCAGCAA	0.318																																																	0													64.0	64.0	64.0					5																	133655130		1715	3860	5575	SO:0001819	synonymous_variant	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.711A>G	5.37:g.133655130T>C			D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	CCDS47264.1																																																																																				0.318	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1		NM_001113575	
CHRNA2	1135	hgsc.bcm.edu;ucsc.edu	37	8	27319259	27319259	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr8:27319259A>G	ENST00000520933.2	-	6	1630	c.1477T>C	c.(1477-1479)Tgg>Cgg	p.W493R	CHRNA2_ENST00000407991.1_Missense_Mutation_p.W493R|CHRNA2_ENST00000240132.2_Missense_Mutation_p.W478R			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	493					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	ACATACTTCCAGTCCTCCTTC	0.587																																																	0													254.0	203.0	220.0					8																	27319259		2203	4300	6503	SO:0001583	missense	1135			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1477T>C	8.37:g.27319259A>G	ENSP00000429616:p.Trp493Arg		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537038	0.85812	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.76839	-1.05;-1.05;-1.05	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95001	0.8143	10	0.87932	D	0	.	13.7168	0.62702	1.0:0.0:0.0:0.0	.	478;493	B4DK19;Q15822	.;ACHA2_HUMAN	R	493;493;478	ENSP00000385026:W493R;ENSP00000429616:W493R;ENSP00000240132:W478R	ENSP00000240132:W478R	W	-	1	0	CHRNA2	27375176	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.297000	0.96120	2.119000	0.64992	0.459000	0.35465	TGG		0.587	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			
COPA	1314	hgsc.bcm.edu;ucsc.edu	37	1	160261203	160261203	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:160261203C>A	ENST00000241704.7	-	31	3571	c.3342G>T	c.(3340-3342)aaG>aaT	p.K1114N	COPA_ENST00000368069.3_Missense_Mutation_p.K1123N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1114					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTTCTTGAGCTTGAAGAACA	0.537											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													100.0	90.0	93.0					1																	160261203		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3342G>T	1.37:g.160261203C>A	ENSP00000241704:p.Lys1114Asn	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677529	0.68042	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60040	0.22;0.22	5.97	1.35	0.21983	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.75747	-0.3209	10	0.87932	D	0	-21.1052	8.3058	0.32041	0.0:0.4751:0.0:0.5249	.	1114;1123	P53621;P53621-2	COPA_HUMAN;.	N	1123;1114	ENSP00000357048:K1123N;ENSP00000241704:K1114N	ENSP00000241704:K1114N	K	-	3	2	COPA	158527827	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.363000	0.20301	0.375000	0.24679	-0.140000	0.14226	AAG		0.537	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	
DAB2	1601	hgsc.bcm.edu;ucsc.edu	37	5	39381655	39381655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:39381655G>A	ENST00000320816.6	-	11	1872	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	DAB2_ENST00000545653.1_Nonsense_Mutation_p.Q448*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.Q448*|DAB2_ENST00000339788.6_Nonsense_Mutation_p.Q251*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	469					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTGACGCCTGGCCTGAAGGT	0.577																																																	0													128.0	125.0	126.0					5																	39381655		2203	4300	6503	SO:0001587	stop_gained	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1405C>T	5.37:g.39381655G>A	ENSP00000313391:p.Gln469*		A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.840978	0.97009	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	.	.	.	6.08	6.08	0.98989	.	0.366935	0.29932	N	0.010829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.3947	14.7878	0.69816	0.0704:0.0:0.9296:0.0	.	.	.	.	X	469;251;448;448	.	ENSP00000313391:Q469X	Q	-	1	0	DAB2	39417412	1.000000	0.71417	0.882000	0.34594	0.853000	0.48598	2.798000	0.47884	2.890000	0.99128	0.655000	0.94253	CAG		0.577	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343	
DHX34	9704	hgsc.bcm.edu	37	19	47856609	47856609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:47856609C>T	ENST00000328771.4	+	2	671	c.322C>T	c.(322-324)Ctc>Ttc	p.L108F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	108					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCGCATCAACCTCTCTGTTCT	0.637																																																	0													103.0	100.0	101.0					19																	47856609		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.322C>T	19.37:g.47856609C>T	ENSP00000331907:p.Leu108Phe		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511068	0.27036	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02916	4.11	5.8	4.77	0.60923	.	0.270427	0.24715	N	0.036186	T	0.02533	0.0077	N	0.24115	0.695	0.31645	N	0.647504	B;B	0.23990	0.044;0.095	B;B	0.21360	0.017;0.034	T	0.15867	-1.0422	10	0.37606	T	0.19	.	10.0906	0.42445	0.0:0.8447:0.0:0.1553	.	108;108	Q14147;B4E3G3	DHX34_HUMAN;.	F	108	ENSP00000331907:L108F	ENSP00000257252:L108F	L	+	1	0	DHX34	52548449	0.998000	0.40836	1.000000	0.80357	0.570000	0.35934	0.928000	0.28831	1.483000	0.48342	0.549000	0.68633	CTC		0.637	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681	
DIP2A	23181	hgsc.bcm.edu	37	21	47987406	47987406	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr21:47987406G>T	ENST00000417564.2	+	38	4608	c.4587G>T	c.(4585-4587)gtG>gtT	p.V1529V	DIP2A_ENST00000400274.1_Silent_p.V1525V|DIP2A_ENST00000318711.7_Silent_p.V1530V|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1529					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCTGGTCGTGGGAGTGGTGG	0.642																																																	0													89.0	100.0	96.0					21																	47987406		2203	4300	6503	SO:0001819	synonymous_variant	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4587G>T	21.37:g.47987406G>T			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																				0.642	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1		NM_015151	
DLL4	54567	hgsc.bcm.edu	37	15	41228880	41228880	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr15:41228880G>A	ENST00000249749.5	+	9	1971	c.1695G>A	c.(1693-1695)agG>agA	p.R565R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	565					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACGGCAGCAGGGAAGCCATGA	0.602																																																	0													35.0	41.0	39.0					15																	41228880		2102	4246	6348	SO:0001819	synonymous_variant	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1695G>A	15.37:g.41228880G>A			Q3KP23|Q9NQT9	Silent	SNP	ENST00000249749.5	37	CCDS45232.1																																																																																				0.602	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			
EBLN2	55096	hgsc.bcm.edu;ucsc.edu	37	3	73111546	73111546	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:73111546A>G	ENST00000533473.1	+	1	737	c.314A>G	c.(313-315)aAa>aGa	p.K105R	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	105										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GACATTAAAAAAGCAGCCAAG	0.428																																																	0													54.0	49.0	51.0					3																	73111546		1913	4108	6021	SO:0001583	missense	55096				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.314A>G	3.37:g.73111546A>G	ENSP00000432104:p.Lys105Arg		Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444878	0.25987	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.736	0.11133	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.35595	0.0937	N	0.24115	0.695	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.23547	-1.0185	7	0.66056	D	0.02	.	.	.	.	.	105	Q6P2I7	EBLN2_HUMAN	R	105	.	ENSP00000432104:K105R	K	+	2	0	EBLN2	73194236	0.303000	0.24463	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	-0.417000	0.07461	-0.425000	0.05940	AAA		0.428	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1		NM_018029	
ENDOD1	23052	hgsc.bcm.edu;ucsc.edu	37	11	94862593	94862593	+	Silent	SNP	T	T	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr11:94862593T>G	ENST00000278505.4	+	2	1471	c.1353T>G	c.(1351-1353)gtT>gtG	p.V451V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	451						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTCCAATTGTTTGCAAGGACA	0.522																																																	0													198.0	187.0	191.0					11																	94862593		2030	4195	6225	SO:0001819	synonymous_variant	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1353T>G	11.37:g.94862593T>G			A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	CCDS41699.1																																																																																				0.522	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1		NM_015036	
EPS15L1	58513	hgsc.bcm.edu;ucsc.edu	37	19	16552710	16552710	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:16552710A>C	ENST00000248070.6	-	3	297	c.158T>G	c.(157-159)cTt>cGt	p.L53R	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L53R|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L53R|EPS15L1_ENST00000597937.1_Missense_Mutation_p.L53R|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L53R	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	53	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TACCTTCCCAAGGATAATGTC	0.562											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114.0	119.0	117.0					19																	16552710		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.158T>G	19.37:g.16552710A>C	ENSP00000248070:p.Leu53Arg	711	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903276	0.72754	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.50813	0.73;0.73;0.73	5.18	5.18	0.71444	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.79411	0.4441	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86792	0.1986	10	0.87932	D	0	.	14.2102	0.65759	1.0:0.0:0.0:0.0	.	53;53;53;53;53	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	R	53	ENSP00000393313:L53R;ENSP00000248070:L53R;ENSP00000440103:L53R	ENSP00000248070:L53R	L	-	2	0	EPS15L1	16413710	1.000000	0.71417	0.890000	0.34922	0.633000	0.38033	8.608000	0.90895	1.965000	0.57142	0.533000	0.62120	CTT		0.562	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235	
ERCC8	1161	hgsc.bcm.edu;ucsc.edu	37	5	60183307	60183307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:60183307C>T	ENST00000265038.5	-	11	1124	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	ERCC8_ENST00000426742.2_Nonsense_Mutation_p.W303*|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Nonsense_Mutation_p.W208*	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	361			W -> C (in UVSS2; dbSNP:rs281875221). {ECO:0000269|PubMed:19329487}.		cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GGATGGAACCCAAGCCAGAAT	0.353																																																	0													130.0	124.0	126.0					5																	60183307		2203	4300	6503	SO:0001587	stop_gained	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1082G>A	5.37:g.60183307C>T	ENSP00000265038:p.Trp361*		B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	ENST00000265038.5	37	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.357864	0.98235	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9282	19.0041	0.92843	0.0:1.0:0.0:0.0	.	.	.	.	X	303;361;208;360	.	ENSP00000265038:W361X	W	-	2	0	ERCC8	60219064	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	6.283000	0.72646	2.725000	0.93324	0.591000	0.81541	TGG		0.353	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2		NM_000082	
FEZ2	9637	hgsc.bcm.edu	37	2	36785599	36785599	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr2:36785599G>A	ENST00000405912.3	-	6	960	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	FEZ2_ENST00000379245.4_Missense_Mutation_p.L348F|FEZ2_ENST00000305852.7_Missense_Mutation_p.L150F|FEZ2_ENST00000487919.1_5'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	321					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AATATTTGAAGATCTTCAACA	0.323																																																	0													118.0	112.0	114.0					2																	36785599		1732	3881	5613	SO:0001583	missense	9637			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.961C>T	2.37:g.36785599G>A	ENSP00000385112:p.Leu321Phe		Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816469|4.816469	0.90790|0.90790	.|.	.|.	ENSG00000171055|ENSG00000171055	ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996|ENST00000441005	T;T;T;T|.	0.63580|.	3.95;-0.05;0.96;0.02|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|T	0.70568|0.70568	-0.4836|-0.4836	10|5	0.87932|.	D|.	0|.	-34.6331|-34.6331	19.5894|19.5894	0.95501|0.95501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	321;348;150|.	Q9UHY8;Q9UHY8-2;Q7Z674|.	FEZ2_HUMAN;.;.|.	F|F	348;150;321;220|122	ENSP00000368547:L348F;ENSP00000305843:L150F;ENSP00000385112:L321F;ENSP00000350685:L220F|.	ENSP00000305843:L150F|.	L|S	-|-	1|2	0|0	FEZ2|FEZ2	36639103|36639103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.625000|8.625000	0.90965|0.90965	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.323	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			
GPR149	344758	hgsc.bcm.edu	37	3	154146465	154146465	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr3:154146465T>C	ENST00000389740.2	-	1	1039	c.940A>G	c.(940-942)Atc>Gtc	p.I314V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	314					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCGCTAGGATCAAAGCGAAG	0.567																																																	0													102.0	101.0	101.0					3																	154146465		1975	4150	6125	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.940A>G	3.37:g.154146465T>C	ENSP00000374390:p.Ile314Val			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069784	0.76301	.	.	ENSG00000174948	ENST00000389740	T	0.34472	1.36	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.82823	2.61	0.50467	D	0.999877	D	0.65815	0.995	D	0.64877	0.93	T	0.64918	-0.6294	10	0.45353	T	0.12	-21.3383	14.5028	0.67734	0.0:0.0:0.0:1.0	.	314	Q86SP6	GP149_HUMAN	V	314	ENSP00000374390:I314V	ENSP00000374390:I314V	I	-	1	0	GPR149	155629159	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	3.621000	0.54210	1.841000	0.53522	0.533000	0.62120	ATC		0.567	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1		XM_293580	
GTSF1L	149699	hgsc.bcm.edu;ucsc.edu	37	20	42355035	42355035	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:42355035G>A	ENST00000373003.1	-	1	603	c.300C>T	c.(298-300)agC>agT	p.S100S	GTSF1L_ENST00000373005.2_Intron	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	100							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGATATCGGGGCTGGGAAGGC	0.493																																																	0													119.0	101.0	107.0					20																	42355035		2203	4300	6503	SO:0001819	synonymous_variant	149699			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.300C>T	20.37:g.42355035G>A			Q5JWH5	Silent	SNP	ENST00000373003.1	37	CCDS13323.1																																																																																				0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1		NM_176791	
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32634331	32634331	+	Silent	SNP	G	G	A	rs1049058	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr6:32634331G>A	ENST00000399082.3	-	1	98	c.54C>T	c.(52-54)gtC>gtT	p.V18V	HLA-DQB1_ENST00000399079.3_Silent_p.V18V|HLA-DQB1_ENST00000399084.1_Silent_p.V18V|HLA-DQB1_ENST00000374943.4_Silent_p.V18V|HLA-DQB1_ENST00000434651.2_Silent_p.V18V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	GCATCAAGGTGACAGTTGCTA	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)												0													54.0	52.0	53.0					6																	32634331		1952	4118	6070	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.54C>T	6.37:g.32634331G>A			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																					0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1		NM_002123	
HLA-DQB1	3119	hgsc.bcm.edu	37	6	32634350	32634350	+	Missense_Mutation	SNP	T	T	C	rs1049057	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr6:32634350T>C	ENST00000399082.3	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.D12G			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	12			G -> D (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs1049057).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TACCCGAAGGTCTCCGGGGAT	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				t|||	3031	0.605232	0.4818	0.7089	5008	,	,		11450	0.6657		0.5755	False		,,,				2504	0.6667				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								C	GLY/ASP	1428,2438		461,506,966	50.0	48.0	49.0		35	1.7	0.0	6	dbSNP_86	49	3721,4489		1409,903,1793	yes	missense	HLA-DQB1	NM_002123.4	94	1870,1409,2759	CC,CT,TT		45.3228,36.9374,42.6383	benign	12/262	32634350	5149,6927	1933	4105	6038	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.35A>G	6.37:g.32634350T>C	ENSP00000382032:p.Asp12Gly		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		1225	0.5608974358974359	193	0.39227642276422764	236	0.6519337016574586	398	0.6958041958041958	398	0.525065963060686	.	0.021	-1.421267	0.01126	0.369374	0.453228	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03386	3.95;8.5;8.5;8.5;8.5	3.59	1.68	0.24146	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44081	-0.9351	7	0.02654	T	1	.	3.1383	0.06447	0.2174:0.5424:0.0:0.2402	rs1049057;rs3189133;rs9274521;rs12722099;rs16868461	22;12;12;12	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	G	12	ENSP00000382032:D12G;ENSP00000382029:D12G;ENSP00000364080:D12G;ENSP00000407332:D12G;ENSP00000382034:D12G	ENSP00000364080:D12G	D	-	2	0	HLA-DQB1	32742328	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.328000	0.19681	0.003000	0.14656	-0.368000	0.07277	GAC		0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1		NM_002123	
JMJD1C	221037	hgsc.bcm.edu	37	10	64975354	64975354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr10:64975354G>A	ENST00000399262.2	-	6	999	c.781C>T	c.(781-783)Cga>Tga	p.R261*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R79*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R42*|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R42*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	261					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACCTGCGTCGTGATGTAATG	0.373																																																	0													94.0	85.0	88.0					10																	64975354		1890	4118	6008	SO:0001587	stop_gained	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.781C>T	10.37:g.64975354G>A	ENSP00000382204:p.Arg261*		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	44	10.728027	0.99458	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8261	18.9044	0.92454	0.0:0.0:1.0:0.0	.	.	.	.	X	261;42;42;79	.	ENSP00000382195:R42X	R	-	1	2	JMJD1C	64645360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.074000	0.76791	2.473000	0.83533	0.655000	0.94253	CGA		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241	
LAMA3	3909	hgsc.bcm.edu;ucsc.edu	37	18	21422710	21422710	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr18:21422710T>G	ENST00000313654.9	+	29	3840	c.3599T>G	c.(3598-3600)gTt>gGt	p.V1200G	LAMA3_ENST00000399516.3_Missense_Mutation_p.V1200G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1200	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGTCCTTGGTTTTGGTGCGT	0.517																																																	0													138.0	150.0	146.0					18																	21422710		2014	4173	6187	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3599T>G	18.37:g.21422710T>G	ENSP00000324532:p.Val1200Gly		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512430	0.44660	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19532	2.15;2.14	5.93	0.8	0.18672	.	.	.	.	.	T	0.22282	0.0537	M	0.65975	2.015	0.09310	N	1	P;P	0.51653	0.947;0.868	P;B	0.44990	0.466;0.312	T	0.13953	-1.0490	9	0.29301	T	0.29	.	5.7911	0.18361	0.1158:0.1812:0.0:0.703	.	1200;1200	Q6VU67;Q16787	.;LAMA3_HUMAN	G	1200;1200;1198	ENSP00000324532:V1200G;ENSP00000382432:V1200G	ENSP00000324532:V1200G	V	+	2	0	LAMA3	19676708	0.000000	0.05858	0.043000	0.18650	0.922000	0.55478	0.299000	0.19138	0.156000	0.19299	0.533000	0.62120	GTT		0.517	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LIX1L	128077	hgsc.bcm.edu	37	1	145497422	145497422	+	Missense_Mutation	SNP	T	T	A	rs189730184		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:145497422T>A	ENST00000369308.3	+	4	701	c.627T>A	c.(625-627)aaT>aaA	p.N209K	RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	209										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAACCCAAATACAGGGATTG	0.453																																																	0													95.0	83.0	87.0					1																	145497422		2203	4300	6503	SO:0001583	missense	128077			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.627T>A	1.37:g.145497422T>A	ENSP00000358314:p.Asn209Lys		Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	228	0.1043956043956044	79	0.16056910569105692	28	0.07734806629834254	44	0.07692307692307693	77	0.10158311345646438	T	16.93	3.258109	0.59321	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.1	-2.96	0.05547	.	0.142736	0.64402	D	0.000009	T	0.30293	0.0760	L	0.54323	1.7	0.38858	D	0.956423	P	0.38767	0.646	B	0.33254	0.16	T	0.33317	-0.9873	9	0.72032	D	0.01	-10.0511	12.0894	0.53717	0.0:0.6382:0.0:0.3618	.	209	Q8IVB5	LIX1L_HUMAN	K	209;156	.	ENSP00000358314:N209K	N	+	3	2	LIX1L	144208779	0.992000	0.36948	0.947000	0.38551	0.997000	0.91878	0.281000	0.18810	-0.427000	0.07350	0.460000	0.39030	AAT		0.453	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1		NM_153713	
MEPE	56955	hgsc.bcm.edu;ucsc.edu	37	4	88755919	88755919	+	Splice_Site	SNP	C	C	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr4:88755919C>G	ENST00000424957.3	+	2	126	c.53C>G	c.(52-54)cCa>cGa	p.P18R	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000361056.3_Splice_Site_p.P18R|MEPE_ENST00000511670.1_Splice_Site_p.P18R|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Splice_Site_p.P18R	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	18					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGGGCAGCACCAGTAAGTATT	0.348																																																	0													137.0	136.0	136.0					4																	88755919		2203	4300	6503	SO:0001630	splice_region_variant	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.54+1C>G	4.37:g.88755919C>G			A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846589	0.51164	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.66280	-0.2;1.94;-0.2	5.2	4.37	0.52481	.	1.031030	0.07750	N	0.948413	T	0.71787	0.3381	M	0.84326	2.69	0.30486	N	0.771905	P	0.47409	0.895	P	0.47206	0.541	T	0.67818	-0.5572	10	0.87932	D	0	-0.0622	9.7891	0.40695	0.0:0.9073:0.0:0.0927	.	18	Q9NQ76	MEPE_HUMAN	R	18	ENSP00000416984:P18R;ENSP00000378534:P18R;ENSP00000354341:P18R	ENSP00000354341:P18R	P	+	2	0	MEPE	88974943	0.997000	0.39634	0.994000	0.49952	0.622000	0.37654	0.942000	0.29017	1.559000	0.49555	0.655000	0.94253	CCA		0.348	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			Missense_Mutation
MICALL2	79778	hgsc.bcm.edu	37	7	1480280	1480280	+	Silent	SNP	C	C	T	rs58636013	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:1480280C>T	ENST00000297508.7	-	8	1927	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	MICALL2_ENST00000405088.4_Silent_p.P372P|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	584	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCCATCCTGCCGGCCCGTCCT	0.642													C|||	489	0.0976438	0.18	0.2176	5008	,	,		19194	0.0298		0.0507	False		,,,				2504	0.0194																0										769,3633	309.7+/-291.2	73,623,1505	91.0	71.0	78.0		1752	-8.2	0.1	7	dbSNP_129	78	469,8125	137.6+/-194.5	14,441,3842	no	coding-synonymous	MICALL2	NM_182924.3		87,1064,5347	TT,TC,CC		5.4573,17.4693,9.526		584/905	1480280	1238,11758	2201	4297	6498	SO:0001819	synonymous_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1752G>A	7.37:g.1480280C>T			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																				0.642	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924	
MICALL2	79778	hgsc.bcm.edu	37	7	1480286	1480286	+	Silent	SNP	G	G	A	rs61741872	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:1480286G>A	ENST00000297508.7	-	8	1921	c.1746C>T	c.(1744-1746)gaC>gaT	p.D582D	MICALL2_ENST00000405088.4_Silent_p.D370D|MICALL2_ENST00000471899.1_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	582	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGCCGGCCCGTCCTCCTGGC	0.642													g|||	430	0.0858626	0.1392	0.2104	5008	,	,		19006	0.0298		0.0507	False		,,,				2504	0.0194																0										581,3821	256.4+/-261.2	34,513,1654	82.0	65.0	70.0		1746	-8.2	0.0	7	dbSNP_129	70	451,8143	135.1+/-192.4	13,425,3859	no	coding-synonymous	MICALL2	NM_182924.3		47,938,5513	AA,AG,GG		5.2478,13.1985,7.9409		582/905	1480286	1032,11964	2201	4297	6498	SO:0001819	synonymous_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1746C>T	7.37:g.1480286G>A			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	CCDS5324.1																																																																																				0.642	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924	
MSH5	4439	hgsc.bcm.edu	37	6	31729359	31729359	+	Silent	SNP	A	A	G	rs707938	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr6:31729359A>G	ENST00000375755.3	+	22	2434	c.2148A>G	c.(2146-2148)caA>caG	p.Q716Q	MSH5-SAPCD1_ENST00000493662.2_Silent_p.Q733Q|MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000431848.2_Silent_p.Q415Q|MSH5_ENST00000534153.4_Silent_p.Q733Q|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000375750.3_Silent_p.Q716Q|MSH5_ENST00000375742.3_Silent_p.Q733Q|MSH5_ENST00000375740.3_Silent_p.Q734Q|MSH5_ENST00000395853.1_Silent_p.Q390Q|MSH5_ENST00000375703.3_Silent_p.Q717Q|SAPCD1_ENST00000415669.2_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	716					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTCAGCTACAACTGCTGCCAC	0.607								Direct reversal of damage;Mismatch excision repair (MMR)					G|||	2340	0.467252	0.6929	0.4236	5008	,	,		17393	0.3512		0.3191	False		,,,				2504	0.4652																0								G	,,,	2847,1559		925,997,281	47.0	53.0	51.0		2148,2202,2151,2148	2.6	1.0	6	dbSNP_86	51	2724,5876		455,1814,2031	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	,,,	1380,2811,2312	GG,GA,AA		31.6744,35.3836,42.8341	,,,	716/835,734/823,717/836,716/835	31729359	5571,7435	2203	4300	6503	SO:0001819	synonymous_variant	4439			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2148A>G	6.37:g.31729359A>G			B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	CCDS4720.1																																																																																				0.607	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			
MYH11	4629	hgsc.bcm.edu;ucsc.edu	37	16	15931906	15931906	+	Missense_Mutation	SNP	C	C	A	rs111777997		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr16:15931906C>A	ENST00000300036.5	-	2	313	c.204G>T	c.(202-204)aaG>aaT	p.K68N	MYH11_ENST00000396324.3_Missense_Mutation_p.K68N|MYH11_ENST00000576790.2_Missense_Mutation_p.K68N|MYH11_ENST00000452625.2_Missense_Mutation_p.K68N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	68					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAACCGTGACCTTCTTGCCAT	0.582			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													314.0	267.0	283.0					16																	15931906		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.204G>T	16.37:g.15931906C>A	ENSP00000300036:p.Lys68Asn		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891868	0.72524	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.84	2.54	0.30619	Myosin, N-terminal, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.83692	2.655	0.80722	D	1	B;D;D;D;D	0.64830	0.401;0.984;0.984;0.984;0.994	B;D;D;P;D	0.66497	0.186;0.912;0.912;0.884;0.944	D	0.85628	0.1268	10	0.59425	D	0.04	.	7.0605	0.25123	0.0:0.6229:0.0:0.3771	.	68;68;68;68;68	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	68	ENSP00000300036:K68N;ENSP00000345136:K68N;ENSP00000379616:K68N;ENSP00000407821:K68N	ENSP00000300036:K68N	K	-	3	2	MYH11	15839407	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.263000	0.51546	0.825000	0.34637	-0.136000	0.14681	AAG		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113	
MYOM2	9172	hgsc.bcm.edu;ucsc.edu	37	8	2033423	2033423	+	Silent	SNP	C	C	T	rs144162836	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr8:2033423C>T	ENST00000262113.4	+	14	1686	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	515	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGCCTCCCACCGGTGTGCACG	0.602													C|||	6	0.00119808	0.0038	0.0	5008	,	,		16428	0.0		0.0	False		,,,				2504	0.001																0										8,4398	12.9+/-30.5	0,8,2195	76.0	65.0	69.0		1545	0.8	0.2	8	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MYOM2	NM_003970.2		0,11,6492	TT,TC,CC		0.0349,0.1816,0.0846		515/1466	2033423	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1545C>T	8.37:g.2033423C>T			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970	
NDFIP1	80762	hgsc.bcm.edu	37	5	141517333	141517333	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr5:141517333G>T	ENST00000253814.4	+	5	875	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	135					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTTTCCTGTCTTTTTGCC	0.448																																																	0													239.0	230.0	233.0					5																	141517333		2203	4300	6503	SO:0001819	synonymous_variant	80762			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.405G>T	5.37:g.141517333G>T			B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Silent	SNP	ENST00000253814.4	37	CCDS4273.1																																																																																				0.448	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2		NM_030571	
NR2F2	7026	hgsc.bcm.edu;ucsc.edu	37	15	96880591	96880591	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr15:96880591T>C	ENST00000394166.3	+	3	2374	c.985T>C	c.(985-987)Tct>Cct	p.S329P	NR2F2_ENST00000421109.2_Missense_Mutation_p.S196P|NR2F2_ENST00000394171.2_Missense_Mutation_p.S176P|NR2F2_ENST00000453270.2_Missense_Mutation_p.S176P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	329	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGTGGTCTCTCTGATGTAGC	0.423																																																	0													72.0	71.0	71.0					15																	96880591		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.985T>C	15.37:g.96880591T>C	ENSP00000377721:p.Ser329Pro		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064068	0.55432	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.79926	2.475	0.80722	D	1	D;D	0.67145	0.996;0.99	D;D	0.68353	0.957;0.953	D	0.98794	1.0737	10	0.87932	D	0	.	15.2594	0.73610	0.0:0.0:0.0:1.0	.	329;196	P24468;Q3KQR7	COT2_HUMAN;.	P	196;329;176;176	ENSP00000401674:S196P;ENSP00000377721:S329P;ENSP00000377726:S176P;ENSP00000389853:S176P	ENSP00000377721:S329P	S	+	1	0	NR2F2	94681595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.281000	0.72632	2.058000	0.61347	0.533000	0.62120	TCT		0.423	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			
ODF1	4956	hgsc.bcm.edu	37	8	103573037	103573037	+	Silent	SNP	G	G	C	rs143802899|rs568456031|rs377699584|rs62523273|rs386728348|rs58232162	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr8:103573037G>C	ENST00000285402.3	+	2	834	c.678G>C	c.(676-678)ccG>ccC	p.P226P	ODF1_ENST00000518835.1_Silent_p.P19P	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	226	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cctgcaacccgtgcagcccAT	0.547																																																	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)						C		691,3579		206,279,1650	52.0	62.0	58.0		678	-2.8	0.9	8	dbSNP_129	58	540,7902		123,294,3804	no	coding-synonymous	ODF1	NM_024410.3		329,573,5454	CC,CG,GG		6.3966,16.1827,9.6838		226/251	103573037	1231,11481	2135	4221	6356	SO:0001819	synonymous_variant	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.678G>C	8.37:g.103573037G>C			Q3SX72	Silent	SNP	ENST00000285402.3	37	CCDS6293.1																																																																																				0.547	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			
OR14I1	401994	hgsc.bcm.edu;ucsc.edu	37	1	248845202	248845202	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:248845202G>A	ENST00000342623.3	-	1	427	c.404C>T	c.(403-405)aCa>aTa	p.T135I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CCCTCCTGATGTCATCACGGC	0.532																																																	0													85.0	73.0	77.0					1																	248845202		2203	4300	6503	SO:0001583	missense	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.404C>T	1.37:g.248845202G>A	ENSP00000339726:p.Thr135Ile			Missense_Mutation	SNP	ENST00000342623.3	37	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	13.35	2.210493	0.39102	.	.	ENSG00000189181	ENST00000342623	T	0.00340	8.04	3.48	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	0.318283	0.22657	N	0.057249	T	0.00496	0.0016	M	0.85710	2.77	0.09310	N	0.999999	D	0.54601	0.967	P	0.58620	0.842	T	0.50575	-0.8812	10	0.59425	D	0.04	.	1.9258	0.03316	0.1106:0.1572:0.3239:0.4083	.	135	A6ND48	O14I1_HUMAN	I	135	ENSP00000339726:T135I	ENSP00000339726:T135I	T	-	2	0	OR14I1	246911825	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.762000	0.04745	0.015000	0.14971	0.536000	0.68110	ACA		0.532	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1		NM_001004734	
OR1L8	138881	hgsc.bcm.edu;ucsc.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T	rs373426364		TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498																																																	0													154.0	116.0	129.0					9																	125330260		2203	4300	6503	SO:0001583	missense	138881				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.497G>A	9.37:g.125330260C>T	ENSP00000306607:p.Arg166His		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872590	0.33069	.	.	ENSG00000171496	ENST00000304865	T	0.00169	8.63	4.49	-8.98	0.00754	GPCR, rhodopsin-like superfamily (1);	2.578920	0.01572	N	0.020616	T	0.00144	0.0004	L	0.42632	1.34	0.09310	N	1	B	0.19583	0.037	B	0.21708	0.036	T	0.32851	-0.9891	10	0.54805	T	0.06	2.0917	5.8837	0.18870	0.4193:0.1963:0.0:0.3844	.	166	Q8NGR8	OR1L8_HUMAN	H	166	ENSP00000306607:R166H	ENSP00000306607:R166H	R	-	2	0	OR1L8	124370081	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	-1.955000	0.01523	-2.450000	0.00543	-0.582000	0.04134	CGT		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837331	12837331	+	Missense_Mutation	SNP	G	G	T	rs200315960	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837331G>T	ENST00000357726.4	+	3	1068	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	347					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGCTGAGGCCACCCTGC	0.607																																																	0													86.0	88.0	87.0					1																	12837331		2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1041G>T	1.37:g.12837331G>T	ENSP00000350358:p.Glu347Asp			Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	27	0.012362637362637362	1	0.0020325203252032522	2	0.0055248618784530384	15	0.026223776223776224	9	0.011873350923482849	.	11.30	1.598886	0.28445	.	.	ENSG00000116726	ENST00000357726	T	0.00932	5.53	2.83	-3.18	0.05186	.	0.449014	0.20900	N	0.083655	T	0.00271	0.0008	N	0.24115	0.695	0.09310	N	1	P	0.35456	0.502	B	0.37989	0.262	T	0.49184	-0.8966	10	0.87932	D	0	.	3.0889	0.06286	0.2966:0.0:0.3534:0.35	.	347	O95522	PRA12_HUMAN	D	347	ENSP00000350358:E347D	ENSP00000350358:E347D	E	+	3	2	PRAMEF12	12759918	0.000000	0.05858	0.003000	0.11579	0.072000	0.16883	-0.525000	0.06214	-0.706000	0.05028	0.205000	0.17691	GAG		0.607	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760	
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837652	12837652	+	Silent	SNP	C	C	T	rs200113689	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837652C>T	ENST00000357726.4	+	3	1389	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	454					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCACTGTCCCCTGCCCTC	0.522																																																	0																																										SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1362C>T	1.37:g.12837652C>T				Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.522	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760	
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837664	12837664	+	Silent	SNP	C	C	T	rs201781857	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837664C>T	ENST00000357726.4	+	3	1401	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	458					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCTCGCTGTGGCATCA	0.517																																																	0								C		1,4405		0,1,2202	107.0	109.0	108.0		1374	-3.4	0.0	1	dbSNP_134	108	29,8571		0,29,4271	no	coding-synonymous	PRAMEF12	NM_001080830.1		0,30,6473	TT,TC,CC		0.3372,0.0227,0.2307		458/484	12837664	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1374C>T	1.37:g.12837664C>T				Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760	
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837669	12837669	+	Missense_Mutation	SNP	G	G	T	rs201008398	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr1:12837669G>T	ENST00000357726.4	+	3	1406	c.1379G>T	c.(1378-1380)gGc>gTc	p.G460V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	460					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCGCTGTGGCATCAGGGCC	0.507																																																	0								G	VAL/GLY	2,4404		0,2,2201	106.0	108.0	107.0		1379	-1.2	0.0	1		107	34,8566		0,34,4266	yes	missense	PRAMEF12	NM_001080830.1	109	0,36,6467	TT,TG,GG		0.3953,0.0454,0.2768	possibly-damaging	460/484	12837669	36,12970	2203	4300	6503	SO:0001583	missense	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1379G>T	1.37:g.12837669G>T	ENSP00000350358:p.Gly460Val			Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	21	0.009615384615384616	1	0.0020325203252032522	1	0.0027624309392265192	11	0.019230769230769232	8	0.010554089709762533	.	13.88	2.368037	0.42003	4.54E-4	0.003953	ENSG00000116726	ENST00000357726	T	0.62232	0.04	2.24	-1.22	0.09494	.	1.264420	0.05864	N	0.623511	T	0.64789	0.2630	M	0.87381	2.88	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57165	-0.7858	10	0.66056	D	0.02	.	3.0303	0.06104	0.3141:0.2341:0.4519:0.0	.	460	O95522	PRA12_HUMAN	V	460	ENSP00000350358:G460V	ENSP00000350358:G460V	G	+	2	0	PRAMEF12	12760256	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-0.711000	0.05019	-0.296000	0.08947	0.205000	0.17691	GGC		0.507	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760	
PTCH1	5727	hgsc.bcm.edu	37	9	98211564	98211564	+	Silent	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:98211564G>A	ENST00000331920.6	-	22	3890	c.3591C>T	c.(3589-3591)tcC>tcT	p.S1197S	PTCH1_ENST00000429896.2_Silent_p.S1046S|PTCH1_ENST00000437951.1_Silent_p.S1131S|PTCH1_ENST00000421141.1_Silent_p.S1046S|PTCH1_ENST00000418258.1_Silent_p.S1046S|PTCH1_ENST00000375274.2_Silent_p.S1196S|PTCH1_ENST00000430669.2_Silent_p.S1131S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1197					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGGCTCAGGGGAGGGTGTGG	0.597																																																	0													23.0	30.0	28.0					9																	98211564		2190	4270	6460	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3591C>T	9.37:g.98211564G>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	
RPH3A	22895	hgsc.bcm.edu;ucsc.edu	37	12	113304584	113304584	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr12:113304584T>A	ENST00000389385.4	+	7	880	c.383T>A	c.(382-384)gTg>gAg	p.V128E	RPH3A_ENST00000420983.2_Missense_Mutation_p.V128E|RPH3A_ENST00000415485.3_Missense_Mutation_p.V128E|RPH3A_ENST00000548866.1_Missense_Mutation_p.V79E|RPH3A_ENST00000447659.2_Missense_Mutation_p.V79E|RPH3A_ENST00000551052.1_Missense_Mutation_p.V124E|RPH3A_ENST00000543106.2_Missense_Mutation_p.V128E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	128	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAGTGCGGAGTGGAGACCAAC	0.567																																																	0													129.0	94.0	106.0					12																	113304584		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.383T>A	12.37:g.113304584T>A	ENSP00000374036:p.Val128Glu		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174940	0.78564	.	.	ENSG00000089169	ENST00000543106;ENST00000551593;ENST00000547728;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.69	4.69	0.59074	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.117563	0.36555	N	0.002533	D	0.84665	0.5522	M	0.70595	2.14	0.52501	D	0.999957	D;D;D;D	0.63880	0.98;0.988;0.988;0.993	P;P;P;P	0.59357	0.731;0.722;0.722;0.856	D	0.86795	0.1988	10	0.87932	D	0	.	13.4554	0.61195	0.0:0.0:0.0:1.0	.	79;128;128;124	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	E	128;128;128;128;79;61;124;128;128;79;128	ENSP00000440384:V128E;ENSP00000446780:V128E;ENSP00000449613:V128E;ENSP00000374036:V128E;ENSP00000413254:V79E;ENSP00000448100:V61E;ENSP00000448297:V124E;ENSP00000405357:V128E;ENSP00000450216:V128E;ENSP00000450347:V79E;ENSP00000408889:V128E	ENSP00000374036:V128E	V	+	2	0	RPH3A	111788967	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.113000	0.57851	1.878000	0.54408	0.460000	0.39030	GTG		0.567	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954	
SH3KBP1	30011	hgsc.bcm.edu;ucsc.edu	37	X	19587268	19587268	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chrX:19587268A>T	ENST00000397821.3	-	13	1627	c.1337T>A	c.(1336-1338)cTa>cAa	p.L446Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.L185Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.L409Q|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.L208Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	446					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GATGCCAGATAGCGAACTGCC	0.458																																																	0													165.0	138.0	147.0					X																	19587268		2203	4300	6503	SO:0001583	missense	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1337T>A	X.37:g.19587268A>T	ENSP00000380921:p.Leu446Gln		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	a	13.97	2.396212	0.42512	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.05	6.05	0.98169	.	1.435990	0.04569	N	0.392981	T	0.33352	0.0860	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31009	0.066;0.162;0.303	B;B;B	0.37091	0.057;0.045;0.241	T	0.38478	-0.9659	10	0.49607	T	0.09	-2.8301	11.7095	0.51616	1.0:0.0:0.0:0.0	.	208;446;409	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	Q	431;446;208;409;185;426	ENSP00000380921:L446Q;ENSP00000369039:L208Q;ENSP00000369020:L409Q;ENSP00000442499:L185Q;ENSP00000369049:L426Q	ENSP00000369020:L409Q	L	-	2	0	SH3KBP1	19497189	0.035000	0.19736	0.003000	0.11579	0.949000	0.60115	3.531000	0.53546	2.038000	0.60285	0.478000	0.44815	CTA		0.458	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1		NM_031892	
SHPK	23729	hgsc.bcm.edu;ucsc.edu	37	17	3518702	3518702	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:3518702G>T	ENST00000225519.3	-	6	1055	c.953C>A	c.(952-954)gCc>gAc	p.A318D		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	318					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAGTGACGCGGCCACCCCCAG	0.602																																																	0													119.0	89.0	99.0					17																	3518702		2203	4300	6503	SO:0001583	missense	23729			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.953C>A	17.37:g.3518702G>T	ENSP00000225519:p.Ala318Asp		B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114490	0.94339	.	.	ENSG00000197417	ENST00000225519	T	0.29142	1.58	5.33	5.33	0.75918	.	0.101536	0.64402	D	0.000002	T	0.57315	0.2045	M	0.81942	2.565	0.80722	D	1	D	0.64830	0.994	P	0.62491	0.903	T	0.61959	-0.6955	10	0.72032	D	0.01	-2.9621	18.4479	0.90691	0.0:0.0:1.0:0.0	.	318	Q9UHJ6	SHPK_HUMAN	D	318	ENSP00000225519:A318D	ENSP00000225519:A318D	A	-	2	0	SHPK	3465451	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.047000	0.93823	2.681000	0.91329	0.650000	0.86243	GCC		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			
SLC38A2	54407	hgsc.bcm.edu;ucsc.edu	37	12	46760866	46760866	+	Silent	SNP	G	G	A	rs36022751	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr12:46760866G>A	ENST00000256689.5	-	6	918	c.474C>T	c.(472-474)aaC>aaT	p.N158N	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	158					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TACCTCCAATGTTCTGCATTG	0.383													G|||	11	0.00219649	0.0	0.0014	5008	,	,		18330	0.0		0.0089	False		,,,				2504	0.001				Ovarian(9;448 492 8335 28722 40361)												0								G		4,4400	8.1+/-20.4	0,4,2198	94.0	98.0	97.0		474	3.2	1.0	12	dbSNP_126	97	90,8510	51.1+/-111.2	0,90,4210	no	coding-synonymous	SLC38A2	NM_018976.4		0,94,6408	AA,AG,GG		1.0465,0.0908,0.7229		158/507	46760866	94,12910	2202	4300	6502	SO:0001819	synonymous_variant	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.474C>T	12.37:g.46760866G>A			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																				0.383	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			
SMG6	23293	hgsc.bcm.edu	37	17	2203323	2203323	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr17:2203323T>C	ENST00000263073.6	-	2	774	c.724A>G	c.(724-726)Aag>Gag	p.K242E	SMG6_ENST00000544865.1_Missense_Mutation_p.K211E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	242	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAGTAGCGCTTTGCGGAGCCC	0.627																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													73.0	76.0	75.0					17																	2203323		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.724A>G	17.37:g.2203323T>C	ENSP00000263073:p.Lys242Glu		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698718	0.68501	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.19105	2.18;2.17	5.45	5.45	0.79879	.	0.298566	0.34156	N	0.004205	T	0.35128	0.0921	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.10359	-1.0633	10	0.56958	D	0.05	-10.0163	15.5099	0.75772	0.0:0.0:0.0:1.0	.	242	Q86US8	EST1A_HUMAN	E	242;211	ENSP00000263073:K242E;ENSP00000443920:K211E	ENSP00000263073:K242E	K	-	1	0	SMG6	2150073	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	4.522000	0.60539	2.060000	0.61445	0.533000	0.62120	AAG		0.627	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			
STIP1	10963	hgsc.bcm.edu	37	11	63965325	63965325	+	Splice_Site	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr11:63965325G>A	ENST00000305218.4	+	8	1049		c.e8-1		STIP1_ENST00000358794.5_Splice_Site|STIP1_ENST00000538945.1_Splice_Site	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1						response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTTATCAGAGCATATGCT	0.463																																																	1	Unknown(1)	lung(1)											190.0	203.0	198.0					11																	63965325		2201	4297	6498	SO:0001630	splice_region_variant	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.903-1G>A	11.37:g.63965325G>A			B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Splice_Site	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209555	0.22289	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.533	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STIP1	63721901	1.000000	0.71417	0.972000	0.41901	0.039000	0.13416	8.989000	0.93506	2.520000	0.84964	0.467000	0.42956	.		0.463	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2		NM_006819	Intron
TRIM28	10155	hgsc.bcm.edu	37	19	59060881	59060881	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:59060881G>A	ENST00000253024.5	+	13	2135	c.1846G>A	c.(1846-1848)Ggt>Agt	p.G616S	TRIM28_ENST00000341753.6_Missense_Mutation_p.G534S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	616					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G616S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGCCCCAGGTGGTGGCCCGGG	0.627																																																	1	Substitution - Missense(1)	lung(1)											64.0	63.0	63.0					19																	59060881		2203	4300	6503	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1846G>A	19.37:g.59060881G>A	ENSP00000253024:p.Gly616Ser		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129202	0.37533	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67698	-0.08;-0.28	4.7	3.66	0.41972	.	0.947826	0.08739	N	0.900861	T	0.40322	0.1112	N	0.03608	-0.345	0.31481	N	0.66717	B;B;B	0.14805	0.001;0.011;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.43278	-0.9401	10	0.15066	T	0.55	-6.4994	6.9874	0.24735	0.2138:0.0:0.7862:0.0	.	534;616;616	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	S	616;534	ENSP00000253024:G616S;ENSP00000342232:G534S	ENSP00000253024:G616S	G	+	1	0	TRIM28	63752693	0.980000	0.34600	0.969000	0.41365	0.799000	0.45148	2.106000	0.41835	1.096000	0.41439	0.436000	0.28706	GGT		0.627	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762	
TTC29	83894	hgsc.bcm.edu	37	4	147724797	147724797	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr4:147724797A>C	ENST00000325106.4	-	11	1368	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	TTC29_ENST00000398886.4_Missense_Mutation_p.F407C|TTC29_ENST00000513335.1_Missense_Mutation_p.F407C|TTC29_ENST00000506019.1_5'UTR	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	381										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTTGTGTCAAAAGCTTGCTG	0.353																																																	0													57.0	55.0	56.0					4																	147724797		1879	4109	5988	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1142T>G	4.37:g.147724797A>C	ENSP00000316740:p.Phe381Cys		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055573	0.55325	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.179079	0.49916	D	0.000126	D	0.95245	0.8458	M	0.67953	2.075	0.40633	D	0.981876	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.98;0.986	D	0.95277	0.8382	10	0.87932	D	0	-15.6301	7.1984	0.25866	0.8:0.0:0.0698:0.1302	.	381;407;381	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	C	407;407;381;381	ENSP00000423505:F407C;ENSP00000381861:F407C;ENSP00000316740:F381C;ENSP00000425778:F381C	ENSP00000316740:F381C	F	-	2	0	TTC29	147944247	1.000000	0.71417	0.992000	0.48379	0.752000	0.42762	2.856000	0.48341	2.228000	0.72767	0.533000	0.62120	TTT		0.353	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_031956	
TUBA3C	7278	hgsc.bcm.edu	37	13	19751274	19751274	+	Silent	SNP	G	G	A	rs143115179	byFrequency	TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr13:19751274G>A	ENST00000400113.3	-	4	953	c.849C>T	c.(847-849)caC>caT	p.H283H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	283					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACAGCTGCTCGTGGTAGGCCT	0.607																																																	0													143.0	128.0	133.0					13																	19751274		2203	4300	6503	SO:0001819	synonymous_variant	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.849C>T	13.37:g.19751274G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																				0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2		NM_006001	
VCP	7415	hgsc.bcm.edu	37	9	35061687	35061687	+	Splice_Site	SNP	C	C	G			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr9:35061687C>G	ENST00000358901.6	-	10	1977		c.e10-1			NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAAAGCGACCTGTGGGACAG	0.483																																																	0													175.0	149.0	158.0					9																	35061687		2203	4300	6503	SO:0001630	splice_region_variant	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1082-1G>C	9.37:g.35061687C>G			B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Splice_Site	SNP	ENST00000358901.6	37	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764263	0.69878	.	.	ENSG00000165280	ENST00000358901	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VCP	35051687	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.783000	0.85696	2.826000	0.97356	0.655000	0.94253	.		0.483	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1		NM_007126	Intron
ZNF133	7692	hgsc.bcm.edu	37	20	18297069	18297069	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr20:18297069G>A	ENST00000316358.4	+	4	1671	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q	ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.R525Q|ZNF133_ENST00000538547.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000377671.3_Missense_Mutation_p.R524Q|ZNF133_ENST00000535822.1_Missense_Mutation_p.R430Q|ZNF133_ENST00000402618.2_Missense_Mutation_p.R462Q|ZNF133_ENST00000396026.3_Missense_Mutation_p.R528Q|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	525					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TATGTGTGCCGAGAGTGCGGG	0.622																																																	0													74.0	72.0	73.0					20																	18297069		2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1574G>A	20.37:g.18297069G>A	ENSP00000346090:p.Arg525Gln		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	G	5.782	0.328668	0.10956	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.59	3.63	0.41609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150448	0.31102	N	0.008246	T	0.06962	0.0177	N	0.03154	-0.405	0.09310	N	1	B;B;P;B	0.35944	0.104;0.223;0.529;0.282	B;B;B;B	0.34652	0.041;0.037;0.187;0.032	T	0.21690	-1.0238	10	0.40728	T	0.16	-15.9528	7.9931	0.30252	0.0:0.1764:0.6409:0.1827	.	462;528;525;524	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	Q	524;528;462;525;430;430;525	ENSP00000366899:R524Q;ENSP00000400897:R528Q;ENSP00000385279:R462Q;ENSP00000383945:R525Q;ENSP00000442978:R430Q;ENSP00000439427:R430Q;ENSP00000346090:R525Q	ENSP00000346090:R525Q	R	+	2	0	ZNF133	18245069	0.000000	0.05858	0.959000	0.39883	0.117000	0.20001	-0.619000	0.05572	1.516000	0.48900	-0.182000	0.12963	CGA		0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1		NM_003434	
ZNF613	79898	hgsc.bcm.edu	37	19	52448101	52448101	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr19:52448101G>T	ENST00000293471.6	+	6	1644	c.965G>T	c.(964-966)gGg>gTg	p.G322V	ZNF613_ENST00000391794.4_Missense_Mutation_p.G286V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGCCTGTGTGGGAAGGCCTTC	0.468																																																	0													75.0	79.0	78.0					19																	52448101		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.965G>T	19.37:g.52448101G>T	ENSP00000293471:p.Gly322Val		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	9.698	1.153799	0.21371	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.07567	3.18;3.18	3.36	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.611610	0.04053	N	0.305051	T	0.36608	0.0973	H	0.96208	3.785	0.44155	D	0.996959	D	0.52996	0.957	P	0.58820	0.846	T	0.36040	-0.9764	10	0.87932	D	0	.	7.0939	0.25299	0.4161:0.0:0.5839:0.0	.	322	Q6PF04	ZN613_HUMAN	V	322;286	ENSP00000293471:G322V;ENSP00000375671:G286V	ENSP00000293471:G322V	G	+	2	0	ZNF613	57139913	0.189000	0.23263	0.144000	0.22314	0.861000	0.49209	0.089000	0.15002	0.077000	0.16863	-0.290000	0.09829	GGG		0.468	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2		NM_024840	
ZNF786	136051	hgsc.bcm.edu	37	7	148768360	148768360	+	Silent	SNP	G	G	T			TCGA-BP-4330-01A-01D-1366-10	TCGA-BP-4330-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	601fd47a-12f9-413d-8c06-cf1f23c406cb	8e83a5db-7371-4374-838d-9c4329dd73e1	g.chr7:148768360G>T	ENST00000491431.1	-	4	1568	c.1504C>A	c.(1504-1506)Cgg>Agg	p.R502R	ZNF786_ENST00000316286.9_Silent_p.R416R|ZNF786_ENST00000451334.3_Silent_p.R465R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACCGTGCCGGAGCCGGTGG	0.662																																																	0													31.0	36.0	35.0					7																	148768360		2111	4250	6361	SO:0001819	synonymous_variant	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1504C>A	7.37:g.148768360G>T			A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																				0.662	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411	
