#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADCY6	112	genome.wustl.edu	37	12	49169780	49169780	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:49169780G>A	ENST00000307885.4	-	8	2466	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.S591F|ADCY6_ENST00000357869.3_Missense_Mutation_p.S591F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	591					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTGGTCCGGGAGAAGGCACG	0.612																																																	0													49.0	42.0	44.0					12																	49169780		2203	4299	6502	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1772C>T	12.37:g.49169780G>A	ENSP00000311405:p.Ser591Phe		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S591F	ENST00000307885.4	37	c.1772	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427352	0.62733	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77750	-1.12;-1.12;-1.12	4.59	4.59	0.56863	.	0.070634	0.56097	D	0.000023	T	0.77025	0.4070	L	0.36672	1.1	0.58432	D	0.999995	P;P	0.49358	0.905;0.923	P;P	0.50860	0.521;0.652	T	0.77294	-0.2641	10	0.39692	T	0.17	.	16.5327	0.84365	0.0:0.0:1.0:0.0	.	591;591	O43306-2;O43306	.;ADCY6_HUMAN	F	591	ENSP00000350536:S591F;ENSP00000446730:S591F;ENSP00000311405:S591F	ENSP00000311405:S591F	S	-	2	0	ADCY6	47456047	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.319000	0.59197	2.266000	0.75297	0.462000	0.41574	TCC	ADCY6	-	pfam_Adenylate_cyclase-like		0.612	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	G	NM_020983		49169780	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	A
AKNA	80709	genome.wustl.edu	37	9	117107283	117107283	+	Intron	SNP	C	C	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:117107283C>G	ENST00000307564.4	-	18	3823				AKNA_ENST00000374088.3_Intron|AKNA_ENST00000374075.5_Intron|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374079.4_Intron	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACTATAATTACCTATTGGTTA	0.398																																																	0																																										SO:0001627	intron_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3661+859G>C	9.37:g.117107283C>G			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	RNA	SNP	-	NULL	ENST00000307564.4	37	NULL	CCDS6805.1	9																																																																																			AKNA	-	-		0.398	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117107283	-1	no_errors	ENST00000492875	ensembl	human	known	70_37	rna	SNP	0.006	G
ARID2	196528	genome.wustl.edu	37	12	46287285	46287285	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:46287285C>A	ENST00000334344.6	+	19	5402	c.5230C>A	c.(5230-5232)Ctg>Atg	p.L1744M	ARID2_ENST00000457135.1_Missense_Mutation_p.L352M|ARID2_ENST00000422737.1_Missense_Mutation_p.L1595M|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.L1354M	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1744					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTTATGGCTCTGAGGAGAGG	0.438			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													113.0	101.0	105.0					12																	46287285		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5230C>A	12.37:g.46287285C>A	ENSP00000335044:p.Leu1744Met		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1744M	ENST00000334344.6	37	c.5230	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096453	0.56075	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.35973	1.28	5.23	4.34	0.51931	.	0.073359	0.56097	D	0.000039	T	0.41373	0.1156	L	0.29908	0.895	0.43355	D	0.995427	D;D;D	0.89917	1.0;1.0;0.977	D;D;P	0.87578	0.998;0.998;0.831	T	0.19877	-1.0292	10	0.15952	T	0.53	-7.2572	8.6646	0.34112	0.0:0.7775:0.0:0.2225	.	1744;1354;1744	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	M	1744;861;861;1595;1354;352	ENSP00000335044:L1744M	ENSP00000335044:L1744M	L	+	1	2	ARID2	44573552	0.985000	0.35326	0.916000	0.36221	0.985000	0.73830	2.048000	0.41278	1.199000	0.43173	0.467000	0.42956	CTG	ARID2	-	NULL		0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46287285	+1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	0.811	A
ATP10D	57205	genome.wustl.edu	37	4	47584003	47584003	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:47584003C>T	ENST00000273859.3	+	21	3944	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1225					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I1225M(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATACTGACATCTTTGCATTTG	0.468																																																	1	Substitution - Missense(1)	lung(1)											235.0	210.0	219.0					4																	47584003		2203	4300	6503	SO:0001819	synonymous_variant	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3675C>T	4.37:g.47584003C>T			A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.I1225	ENST00000273859.3	37	c.3675	CCDS3476.1	4																																																																																			ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	C	NM_020453		47584003	+1	no_errors	ENST00000273859	ensembl	human	known	70_37	silent	SNP	0.999	T
ATP2B1	490	genome.wustl.edu	37	12	90003751	90003751	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:90003751C>A	ENST00000428670.3	-	15	2861	c.2405G>T	c.(2404-2406)gGc>gTc	p.G802V	ATP2B1_ENST00000359142.3_Missense_Mutation_p.G802V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G802V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G545V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G802V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	802					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAGTGCTGGGCCATCATTTGT	0.358																																																	0													132.0	120.0	124.0					12																	90003751		2203	4300	6503	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2405G>T	12.37:g.90003751C>A	ENSP00000392043:p.Gly802Val		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G802V	ENST00000428670.3	37	c.2405	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.093612	0.94149	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	M	0.62016	1.91	0.80722	D	1	P;D;D	0.58970	0.947;0.968;0.984	P;P;P	0.58077	0.634;0.832;0.755	D	0.96171	0.9123	10	0.87932	D	0	-8.1221	20.3431	0.98773	0.0:1.0:0.0:0.0	.	802;802;802	P20020-3;P20020-2;P20020-6	.;.;.	V	802;802;802;802;545	ENSP00000261173:G802V;ENSP00000343599:G802V;ENSP00000352054:G802V;ENSP00000392043:G802V;ENSP00000376869:G545V	ENSP00000261173:G802V	G	-	2	0	ATP2B1	88527882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.081000	0.71309	2.880000	0.98712	0.650000	0.86243	GGC	ATP2B1	-	pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	C	NM_001682		90003751	-1	no_errors	ENST00000261173	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP2B3	492	genome.wustl.edu	37	X	152815583	152815583	+	Silent	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:152815583G>A	ENST00000349466.2	+	11	1988	c.1662G>A	c.(1660-1662)ctG>ctA	p.L554L	ATP2B3_ENST00000393842.1_Silent_p.L540L|ATP2B3_ENST00000359149.3_Silent_p.L554L|ATP2B3_ENST00000263519.4_Silent_p.L554L|ATP2B3_ENST00000370186.1_Silent_p.L540L|ATP2B3_ENST00000370181.2_Silent_p.L540L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	554					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGACCTGAAGCGGGACT	0.597																																																	0													84.0	60.0	68.0					X																	152815583		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1662G>A	X.37:g.152815583G>A			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L554	ENST00000349466.2	37	c.1662	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152815583	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	1.000	A
BCKDHB	594	genome.wustl.edu	37	6	80881080	80881080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:80881080G>T	ENST00000320393.6	+	6	762	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E239*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	239					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TATATTTTTTGAACCTAAAAT	0.299																																																	0													26.0	32.0	30.0					6																	80881080		2202	4297	6499	SO:0001587	stop_gained	594			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.715G>T	6.37:g.80881080G>T	ENSP00000318351:p.Glu239*		Q5T2J3|Q9BQL0	Nonsense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.E239*	ENST00000320393.6	37	c.715	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.376514	0.97515	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4927	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	X	239;239;169	.	ENSP00000318351:E239X	E	+	1	0	BCKDHB	80937799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.938000	0.92943	2.690000	0.91761	0.655000	0.94253	GAA	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.299	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	G	NM_000056		80881080	+1	no_errors	ENST00000320393	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BHLHE40-AS1	100507582	genome.wustl.edu	37	3	4940570	4940570	+	RNA	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:4940570C>A	ENST00000420832.1	-	0	464				BHLHE40-AS1_ENST00000438479.1_RNA|BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA					BHLHE40 antisense RNA 1																		GTTGTCCTCCCAGTAAGACAG	0.408																																																	0																																												100507582			AK056892, AK311646		3p26.1	2012-11-01			ENSG00000235831	ENSG00000235831		"""Long non-coding RNAs"""	44471	non-coding RNA	RNA, long non-coding							Standard	NR_125916		Approved		uc010hce.2		OTTHUMG00000155242		3.37:g.4940570C>A				RNA	SNP	-	NULL	ENST00000420832.1	37	NULL		3																																																																																			BHLHE40-AS1	-	-		0.408	BHLHE40-AS1-001	KNOWN	basic	antisense	BHLHE40-AS1	HGNC	antisense	OTTHUMT00000338958.1	C			4940570	-1	no_errors	ENST00000438479	ensembl	human	known	70_37	rna	SNP	0.035	A
ZGRF1	55345	genome.wustl.edu	37	4	113508645	113508645	+	Missense_Mutation	SNP	C	C	A	rs559211971		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:113508645C>A	ENST00000505019.1	-	12	3693	c.3568G>T	c.(3568-3570)Gat>Tat	p.D1190Y		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1190						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGACAGCATCACTCTGTCTT	0.423																																																	0													231.0	238.0	236.0					4																	113508645		2203	4300	6503	SO:0001583	missense	55345																														ENST00000505019.1:c.3568G>T	4.37:g.113508645C>A	ENSP00000424737:p.Asp1190Tyr		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.D1190Y	ENST00000505019.1	37	c.3568		4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630346	0.46944	.	.	ENSG00000138658	ENST00000505019	D	0.83335	-1.71	5.18	3.43	0.39272	.	1.142180	0.06654	U	0.763257	T	0.78824	0.4344	N	0.14661	0.345	0.09310	N	0.999997	D	0.59767	0.986	P	0.51135	0.66	T	0.68424	-0.5412	10	0.56958	D	0.05	-1.4286	10.5823	0.45263	0.0:0.7753:0.0:0.2247	.	1190	G5EA02	.	Y	1190	ENSP00000424737:D1190Y	ENSP00000404365:D88Y	D	-	1	0	C4orf21	113728094	0.000000	0.05858	0.002000	0.10522	0.076000	0.17211	0.111000	0.15458	1.193000	0.43086	0.586000	0.80456	GAT	C4orf21	-	NULL		0.423	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113508645	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	missense	SNP	0.001	A
CACNA1B	774	genome.wustl.edu	37	9	140917674	140917674	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:140917674C>T	ENST00000371372.1	+	19	2624	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R827W|CACNA1B_ENST00000371367.5_5'Flank|CACNA1B_ENST00000545473.1_5'Flank|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R827W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R828W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R828W|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R19W	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	827					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGACGGCGCGCGGGGGCCCGT	0.751																																																	0													2.0	2.0	2.0					9																	140917674		1265	3011	4276	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2479C>T	9.37:g.140917674C>T	ENSP00000360423:p.Arg827Trp		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R828W	ENST00000371372.1	37	c.2482	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074826	0.36566	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97480	-4.08;-4.09;-4.4;-4.09;-4.07;-4.07	3.18	3.18	0.36537	.	66.989100	0.00166	N	0.000000	D	0.94889	0.8348	L	0.36672	1.1	0.36819	D	0.886278	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.08055	0.002;0.003;0.003	D	0.84774	0.0769	10	0.72032	D	0.01	.	8.8738	0.35332	0.0:0.8937:0.0:0.1063	.	827;828;827	B1AQK4;B1AQK7;B1AQK6	.;.;.	W	827;827;19;827;828;828	ENSP00000360423:R827W;ENSP00000277551:R827W;ENSP00000277549:R19W;ENSP00000360414:R827W;ENSP00000360408:R828W;ENSP00000360406:R828W	ENSP00000277549:R19W	R	+	1	2	CACNA1B	140037495	0.000000	0.05858	0.233000	0.24025	0.072000	0.16883	-0.058000	0.11750	1.777000	0.52277	0.455000	0.32223	CGG	CACNA1B	-	NULL		0.751	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140917674	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	0.855	T
CAMSAP2	23271	genome.wustl.edu	37	1	200730003	200730003	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:200730003C>A	ENST00000236925.4	+	2	225	c.176C>A	c.(175-177)aCa>aAa	p.T59K	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T59K|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T59K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	59					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCATTTTACACAGATCAGTAT	0.338																																																	0													149.0	152.0	151.0					1																	200730003		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.176C>A	1.37:g.200730003C>A	ENSP00000236925:p.Thr59Lys		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.T59K	ENST00000236925.4	37	c.176		1	.	.	.	.	.	.	.	.	.	.	C	9.325	1.059140	0.19987	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14391	2.51;2.52;2.52	5.5	4.59	0.56863	.	0.149463	0.64402	D	0.000014	T	0.10981	0.0268	L	0.37850	1.14	0.54753	D	0.999987	B;P;P	0.37731	0.379;0.473;0.607	B;B;B	0.38712	0.077;0.145;0.28	T	0.02320	-1.1177	10	0.02654	T	1	-12.7573	14.1802	0.65568	0.0:0.9289:0.0:0.0711	.	59;59;59	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	K	59	ENSP00000351684:T59K;ENSP00000416800:T59K;ENSP00000236925:T59K	ENSP00000236925:T59K	T	+	2	0	CAMSAP1L1	198996626	0.992000	0.36948	0.938000	0.37757	0.997000	0.91878	2.865000	0.48412	1.551000	0.49450	0.655000	0.94253	ACA	CAMSAP2	-	NULL		0.338	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200730003	+1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	0.994	A
CCDC59	29080	genome.wustl.edu	37	12	82750802	82750802	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:82750802A>T	ENST00000256151.7	-	2	812	c.401T>A	c.(400-402)tTa>tAa	p.L134*	CCDC59_ENST00000548126.1_5'UTR|METTL25_ENST00000248306.3_5'Flank	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATCTTCAAATAAAGGCTCGTC	0.393																																																	0													157.0	140.0	146.0					12																	82750802		2203	4300	6503	SO:0001587	stop_gained	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.401T>A	12.37:g.82750802A>T	ENSP00000256151:p.Leu134*		Q9H2V5|Q9NW62	Nonsense_Mutation	SNP	pfam_rRNA_processing,prints_BR22	p.L134*	ENST00000256151.7	37	c.401	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	A	9.911	1.209462	0.22289	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.05	-2.88	0.05682	.	1.646580	0.03231	N	0.178944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-40.4261	5.8869	0.18886	0.5314:0.2395:0.2291:0.0	.	.	.	.	X	134	.	ENSP00000256151:L134X	L	-	2	0	CCDC59	81274933	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.176000	0.16782	-0.928000	0.03761	-2.309000	0.00256	TTA	CCDC59	-	NULL		0.393	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	A	NM_014167		82750802	-1	no_errors	ENST00000256151	ensembl	human	known	70_37	nonsense	SNP	0.000	T
CCDC93	54520	genome.wustl.edu	37	2	118709186	118709186	+	Intron	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:118709186C>T	ENST00000376300.2	-	13	1206				CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Intron	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93											breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGGTAGGGACCTTGCAGCGA	0.458																																																	0																																										SO:0001627	intron_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1068+762G>A	2.37:g.118709186C>T			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	RNA	SNP	-	NULL	ENST00000376300.2	37	NULL	CCDS2121.2	2																																																																																			CCDC93	-	-		0.458	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	C	NM_019044		118709186	-1	no_errors	ENST00000460781	ensembl	human	known	70_37	rna	SNP	0.000	T
CECR2	27443	genome.wustl.edu	37	22	17907428	17907428	+	3'UTR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:17907428G>A	ENST00000497534.1	+	0	111				CECR2_ENST00000342247.5_Intron|CECR2_ENST00000400585.2_Intron			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		gtacagtggcgattttttTCT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000497534.1:c.*108G>A	22.37:g.17907428G>A			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	RNA	SNP	-	NULL	ENST00000497534.1	37	NULL		22																																																																																			CECR2	-	-		0.373	CECR2-003	PUTATIVE	basic	processed_transcript	CECR2	HGNC	protein_coding	OTTHUMT00000316227.1	G	NM_031413		17907428	+1	no_errors	ENST00000497534	ensembl	human	putative	70_37	rna	SNP	0.283	A
CEP250	11190	genome.wustl.edu	37	20	34096011	34096011	+	Missense_Mutation	SNP	T	T	A	rs535604273	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr20:34096011T>A	ENST00000397527.1	+	32	7618	c.6898T>A	c.(6898-6900)Ttg>Atg	p.L2300M	CEP250_ENST00000342580.4_Missense_Mutation_p.L2244M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2300					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCGGAGTACCTTGGAGCAGGT	0.567																																																	0													112.0	110.0	110.0					20																	34096011		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6898T>A	20.37:g.34096011T>A	ENSP00000380661:p.Leu2300Met		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.L2300M	ENST00000397527.1	37	c.6898	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	T	13.17	2.155922	0.38021	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.52295	1.85;1.69;0.67	4.37	-0.459	0.12179	.	0.000000	0.36854	N	0.002374	T	0.64294	0.2585	M	0.79475	2.455	0.26820	N	0.968801	D	0.89917	1.0	D	0.91635	0.999	T	0.59789	-0.7388	10	0.72032	D	0.01	.	10.9819	0.47499	0.0:0.6493:0.0:0.3507	.	2300	Q9BV73	CP250_HUMAN	M	2300;2244;788	ENSP00000380661:L2300M;ENSP00000341541:L2244M;ENSP00000395992:L788M	ENSP00000341541:L2244M	L	+	1	2	CEP250	33559425	0.455000	0.25736	0.992000	0.48379	0.064000	0.16182	0.212000	0.17497	-0.276000	0.09206	0.374000	0.22700	TTG	CEP250	-	NULL		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	T	NM_007186		34096011	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	0.974	A
CEP72	55722	genome.wustl.edu	37	5	644446	644446	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:644446G>C	ENST00000264935.5	+	10	1662	c.1572G>C	c.(1570-1572)ttG>ttC	p.L524F	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	524					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATAAATCTTTGGAAGAGAACA	0.368																																																	0													137.0	142.0	140.0					5																	644446		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1572G>C	5.37:g.644446G>C	ENSP00000264935:p.Leu524Phe		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L524F	ENST00000264935.5	37	c.1572	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180088	0.57800	.	.	ENSG00000112877	ENST00000264935	T	0.36878	1.23	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.58609	0.2134	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61926	-0.6962	10	0.56958	D	0.05	-12.5525	13.3437	0.60559	0.0:0.0:1.0:0.0	.	524	Q9P209	CEP72_HUMAN	F	524	ENSP00000264935:L524F	ENSP00000264935:L524F	L	+	3	2	CEP72	697446	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	2.532000	0.45659	2.277000	0.76020	0.561000	0.74099	TTG	CEP72	-	NULL		0.368	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		644446	+1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	1.000	C
CEPT1	10390	genome.wustl.edu	37	1	111721817	111721817	+	Intron	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:111721817G>T	ENST00000545121.1	+	6	922				CEPT1_ENST00000357172.4_Intron|RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ATCTGGTAAAGATACTGATAA	0.264																																																	0																																										SO:0001627	intron_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.715-2992G>T	1.37:g.111721817G>T			Q69YJ9|Q9P0Y8	RNA	SNP	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-		0.264	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	G	NM_006090		111721817	+1	no_errors	ENST00000467362	ensembl	human	known	70_37	rna	SNP	0.000	T
CHST13	166012	genome.wustl.edu	37	3	126261024	126261024	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:126261024C>T	ENST00000319340.2	+	3	679	c.629C>T	c.(628-630)cCg>cTg	p.P210L		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	210					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCCTgcggccgcgcgcgctc	0.736																																																	0													3.0	4.0	3.0					3																	126261024		1720	3421	5141	SO:0001583	missense	166012			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.629C>T	3.37:g.126261024C>T	ENSP00000317404:p.Pro210Leu		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	pfam_Sulfotransferase	p.P210L	ENST00000319340.2	37	c.629	CCDS3039.1	3	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369375	0.24771	.	.	ENSG00000180767	ENST00000319340	T	0.71222	-0.55	4.57	3.59	0.41128	.	2.004160	0.02257	U	0.067212	T	0.68869	0.3048	M	0.66378	2.025	0.09310	N	1	B	0.29552	0.248	B	0.23574	0.047	T	0.55970	-0.8056	10	0.52906	T	0.07	-31.5342	6.0243	0.19646	0.2689:0.5638:0.1673:0.0	.	210	Q8NET6	CHSTD_HUMAN	L	210	ENSP00000317404:P210L	ENSP00000317404:P210L	P	+	2	0	CHST13	127743714	0.001000	0.12720	0.455000	0.27031	0.017000	0.09413	0.299000	0.19138	2.082000	0.62665	0.313000	0.20887	CCG	CHST13	-	pfam_Sulfotransferase		0.736	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	C	NM_152889		126261024	+1	no_errors	ENST00000319340	ensembl	human	known	70_37	missense	SNP	0.000	T
CNGA1	1259	genome.wustl.edu	37	4	47973119	47973120	+	Splice_Site	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:47973119_47973120insA	ENST00000544810.1	-	2	141		c.e2-2		CNGA1_ENST00000402813.3_Splice_Site|CNGA1_ENST00000358519.4_Intron|CNGA1_ENST00000420489.2_Intron|CNGA1_ENST00000514170.1_Intron	NM_001142564.1	NP_001136036.1	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						agactccatctaaaaaaaaaaa	0.421																																																	0																																										SO:0001630	splice_region_variant	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000544810.1:c.207-2->T	4.37:g.47973130_47973130dupA			A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Splice_Site	INS	-	e1-2	ENST00000544810.1	37	c.1-3_4	CCDS43226.1	4																																																																																			CNGA1	-	-		0.421	CNGA1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding		-	NM_000087	Intron	47973120	-1	no_errors	ENST00000402813	ensembl	human	known	70_37	splice_site_ins	INS	0.002:0.019	A
CNOT8	9337	genome.wustl.edu	37	5	154238369	154238369	+	5'UTR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:154238369G>A	ENST00000403027.2	+	0	293				CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000520671.1_Intron|CNOT8_ENST00000517876.1_Intron|FAXDC2_ENST00000520968.1_Intron|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000521583.1_Intron|CNOT8_ENST00000285896.6_Intron|CNOT8_ENST00000524105.1_Intron	NM_004779.4	NP_004770.4	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCGTAAGATGAAAGAGTGTG	0.657																																					NSCLC(140;1804 1895 27149 29895 35312)												0																																										SO:0001623	5_prime_UTR_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000403027.2:c.-80G>A	5.37:g.154238369G>A			B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	RNA	SNP	-	NULL	ENST00000403027.2	37	NULL	CCDS4329.1	5																																																																																			CNOT8	-	-		0.657	CNOT8-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377455.1	G	NM_004779		154238369	+1	no_errors	ENST00000518782	ensembl	human	known	70_37	rna	SNP	0.001	A
CNTN1	1272	genome.wustl.edu	37	12	41419115	41419115	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:41419115T>C	ENST00000551295.2	+	21	2804	c.2687T>C	c.(2686-2688)aTt>aCt	p.I896T	CNTN1_ENST00000348761.2_Missense_Mutation_p.I885T|CNTN1_ENST00000347616.1_Missense_Mutation_p.I896T|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	896	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTGACATGATTGAGGCTTTC	0.453																																																	0													159.0	168.0	165.0					12																	41419115		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2687T>C	12.37:g.41419115T>C	ENSP00000447006:p.Ile896Thr		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I896T	ENST00000551295.2	37	c.2687	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	6.278	0.419430	0.11928	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.54866	0.55;0.55;0.55	5.15	3.99	0.46301	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.116680	0.56097	N	0.000021	T	0.44030	0.1274	L	0.48260	1.515	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.005	T	0.27262	-1.0079	10	0.25106	T	0.35	.	11.6324	0.51183	0.0:0.0713:0.0:0.9287	.	885;896	Q12860-2;Q12860	.;CNTN1_HUMAN	T	896;896;885	ENSP00000447006:I896T;ENSP00000325660:I896T;ENSP00000261160:I885T	ENSP00000325660:I896T	I	+	2	0	CNTN1	39705382	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	3.502000	0.53332	1.037000	0.40024	0.533000	0.62120	ATT	CNTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	T	NM_001843		41419115	+1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.998	C
CNTNAP2	26047	genome.wustl.edu	37	7	146818156	146818156	+	Silent	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:146818156C>A	ENST00000361727.3	+	6	1356	c.840C>A	c.(838-840)gtC>gtA	p.V280V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	280	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCTGTGGTCATTGAGCGCC	0.537										HNSCC(39;0.1)																																							0													154.0	124.0	134.0					7																	146818156		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.840C>A	7.37:g.146818156C>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V280	ENST00000361727.3	37	c.840	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146818156	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	silent	SNP	0.998	A
COL11A1	1301	genome.wustl.edu	37	1	103480147	103480147	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:103480147G>T	ENST00000370096.3	-	13	1804	c.1492C>A	c.(1492-1494)Cgt>Agt	p.R498S	COL11A1_ENST00000512756.1_Missense_Mutation_p.R382S|COL11A1_ENST00000358392.2_Missense_Mutation_p.R510S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R459S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	498	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R510C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACCATAACGGAACTTGGAA	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											75.0	67.0	70.0					1																	103480147		2203	4299	6502	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1492C>A	1.37:g.103480147G>T	ENSP00000359114:p.Arg498Ser		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R510S	ENST00000370096.3	37	c.1528	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160294	0.57368	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.87966	-2.32;-2.32;-2.3;-1.64;-1.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	M	0.70275	2.135	0.80722	D	1	P;P;P;P	0.51537	0.649;0.872;0.946;0.798	B;B;P;B	0.44477	0.103;0.357;0.451;0.195	D	0.83578	0.0116	10	0.27785	T	0.31	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	382;459;510;498	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	498;510;459;382;510	ENSP00000359114:R498S;ENSP00000351163:R510S;ENSP00000302551:R459S;ENSP00000426533:R382S;ENSP00000408640:R510S	ENSP00000302551:R459S	R	-	1	0	COL11A1	103252735	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.081000	0.57627	2.620000	0.88729	0.655000	0.94253	CGT	COL11A1	-	NULL		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103480147	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A4	1286	genome.wustl.edu	37	2	228004878	228004878	+	Splice_Site	SNP	C	C	A	rs371326070		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:228004878C>A	ENST00000396625.3	-	4	398	c.191G>T	c.(190-192)cGg>cTg	p.R64L	COL4A4_ENST00000329662.7_Splice_Site_p.R64L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	64	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCACTTACCCGAGACCCCTT	0.388																																																	0													116.0	112.0	113.0					2																	228004878		1887	4095	5982	SO:0001630	splice_region_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.192+1G>T	2.37:g.228004878C>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R64L	ENST00000396625.3	37	c.191	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796969	0.70567	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94046	-3.34;-3.24	5.91	4.13	0.48395	.	.	.	.	.	D	0.95683	0.8596	M	0.79693	2.465	0.41029	D	0.985142	D	0.62365	0.991	D	0.64595	0.927	D	0.94931	0.8082	9	0.62326	D	0.03	.	9.2613	0.37614	0.0:0.852:0.0:0.148	.	64	P53420	CO4A4_HUMAN	L	64	ENSP00000379866:R64L;ENSP00000328553:R64L	ENSP00000328553:R64L	R	-	2	0	COL4A4	227713122	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.361000	0.44160	0.845000	0.35118	0.655000	0.94253	CGG	COL4A4	-	pfam_Collagen		0.388	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	C	NM_000092	Missense_Mutation	228004878	-1	no_errors	ENST00000396625	ensembl	human	known	70_37	missense	SNP	1.000	A
COLEC12	81035	genome.wustl.edu	37	18	346550	346550	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:346550G>A	ENST00000400256.3	-	5	1279	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTCAGCGTCCGCAGGTGGTGG	0.468																																																	0													185.0	152.0	163.0					18																	346550		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1072C>T	18.37:g.346550G>A	ENSP00000383115:p.Arg358Trp		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R358W	ENST00000400256.3	37	c.1072	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098547	0.37048	.	.	ENSG00000158270	ENST00000400256	D	0.97161	-4.27	5.86	2.71	0.32032	.	0.051165	0.85682	D	0.000000	D	0.95121	0.8419	L	0.27053	0.805	0.46376	D	0.99901	D	0.71674	0.998	P	0.50791	0.65	D	0.94526	0.7731	10	0.72032	D	0.01	-26.3187	14.6467	0.68767	0.0:0.0:0.5163:0.4837	.	358	Q5KU26	COL12_HUMAN	W	358	ENSP00000383115:R358W	ENSP00000383115:R358W	R	-	1	2	COLEC12	336550	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.864000	0.39469	0.673000	0.31224	0.655000	0.94253	CGG	COLEC12	-	NULL		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	G			346550	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	A
CREBZF	58487	genome.wustl.edu	37	11	85371271	85371271	+	IGR	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:85371271C>T	ENST00000527447.1	-	0	4037				CREBZF_ENST00000531515.1_5'UTR|CREBZF_ENST00000398294.2_3'UTR	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor						negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGAATATGCTCTTGATTATGT	0.318																																					NSCLC(172;674 2044 9050 18334 41735)												0																																										SO:0001628	intergenic_variant	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648		11.37:g.85371271C>T			B2R8Q9|Q0P5U9|Q52LT3	RNA	SNP	-	NULL	ENST00000527447.1	37	NULL	CCDS41697.1	11																																																																																			CREBZF	-	-		0.318	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	C	NM_001039618		85371271	-1	no_errors	ENST00000531515	ensembl	human	known	70_37	rna	SNP	0.955	T
CRTC3	64784	genome.wustl.edu	37	15	91161147	91161147	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:91161147A>G	ENST00000268184.6	+	8	650	c.646A>G	c.(646-648)Aat>Gat	p.N216D	CRTC3_ENST00000420329.2_Missense_Mutation_p.N216D|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	216					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GAAAGAAGAGAATCTGTTAAA	0.473			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													96.0	87.0	90.0					15																	91161147		2198	4298	6496	SO:0001583	missense	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.646A>G	15.37:g.91161147A>G	ENSP00000268184:p.Asn216Asp		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	NULL	p.N216D	ENST00000268184.6	37	c.646	CCDS32331.1	15	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173378	0.57584	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.46063	0.88;0.88	5.12	5.12	0.69794	Transducer of regulated CREB activity, middle domain (1);	0.373373	0.29602	N	0.011697	T	0.43634	0.1256	M	0.62723	1.935	0.42433	D	0.992684	B;B	0.32893	0.389;0.337	B;B	0.38156	0.266;0.173	T	0.32561	-0.9902	10	0.23302	T	0.38	-6.4916	12.937	0.58320	1.0:0.0:0.0:0.0	.	216;216	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	180;216;216	ENSP00000268184:N216D;ENSP00000416573:N216D	ENSP00000268184:N216D	N	+	1	0	CRTC3	88962151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.092000	0.57707	2.150000	0.67090	0.383000	0.25322	AAT	CRTC3	-	NULL		0.473	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	A	NM_022769		91161147	+1	no_errors	ENST00000268184	ensembl	human	known	70_37	missense	SNP	1.000	G
HYPM	25763	genome.wustl.edu	37	X	37850383	37850383	+	Silent	SNP	C	C	T	rs374389406		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:37850383C>T	ENST00000341016.3	+	1	314	c.291C>T	c.(289-291)agC>agT	p.S97S	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		97								p.S97S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCCCCACAGCGCTGAGAGTG	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,3691		0,0,1560,571	101.0	106.0	104.0		291	-6.3	0.0	X		104	1,6606		0,1,2393,1819	no	coding-synonymous	CXorf27	NM_012274.1		0,1,3953,2390	TT,TC,CC,C		0.0151,0.0,0.0097		97/118	37850383	1,10297	2131	4213	6344	SO:0001819	synonymous_variant	25763																														ENST00000341016.3:c.291C>T	X.37:g.37850383C>T			A1A4D3	Silent	SNP	superfamily_Histone-fold	p.S97	ENST00000341016.3	37	c.291	CCDS43929.1	X																																																																																			CXorf27	-	superfamily_Histone-fold		0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf27	HGNC	protein_coding	OTTHUMT00000080888.1	C			37850383	+1	no_errors	ENST00000341016	ensembl	human	known	70_37	silent	SNP	0.000	T
DCTN5	84516	genome.wustl.edu	37	16	23678902	23678902	+	3'UTR	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:23678902C>T	ENST00000300087.2	+	0	1137				CTD-2196E14.9_ENST00000566996.1_lincRNA	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGGTAATGCCCAGCTTTTCT	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	84516				CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.*437C>T	16.37:g.23678902C>T			A8K9X8|H3BN51|H3BQA4	RNA	SNP	-	NULL	ENST00000300087.2	37	NULL	CCDS10615.1	16																																																																																			DCTN5	-	-		0.532	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN5	HGNC	protein_coding	OTTHUMT00000254497.1	C	NM_032486		23678902	+1	no_errors	ENST00000563614	ensembl	human	known	70_37	rna	SNP	0.000	T
DDX27	55661	genome.wustl.edu	37	20	47839534	47839534	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr20:47839534G>A	ENST00000371764.4	+	3	383	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	125	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGAAAGTTCGAAAGAAAAGG	0.408																																																	0													82.0	81.0	81.0					20																	47839534		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.374G>A	20.37:g.47839534G>A	ENSP00000360828:p.Arg125Gln		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R125Q	ENST00000371764.4	37	c.374	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.119838	0.94385	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01474	4.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.08046	-1.0741	10	0.48119	T	0.1	-7.9613	16.0731	0.80948	0.0:0.0:1.0:0.0	.	125	Q96GQ7	DDX27_HUMAN	Q	125	ENSP00000360828:R125Q	ENSP00000360828:R125Q	R	+	2	0	DDX27	47272941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.067000	0.89488	2.941000	0.99782	0.655000	0.94253	CGA	DDX27	-	NULL		0.408	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	G			47839534	+1	no_errors	ENST00000371764	ensembl	human	known	70_37	missense	SNP	1.000	A
DNER	92737	genome.wustl.edu	37	2	230282895	230282895	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:230282895G>A	ENST00000341772.4	-	9	1672	c.1538C>T	c.(1537-1539)cCa>cTa	p.P513L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	513	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTCAGGCATGGAGCGGAGAG	0.537																																																	0													119.0	106.0	111.0					2																	230282895		2203	4300	6503	SO:0001583	missense	92737			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1538C>T	2.37:g.230282895G>A	ENSP00000345229:p.Pro513Leu		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P513L	ENST00000341772.4	37	c.1538	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702188	0.88924	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.99741	-6.6	5.63	5.63	0.86233	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97496	1.0057	10	0.87932	D	0	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	513	Q8NFT8	DNER_HUMAN	L	513;231	ENSP00000345229:P513L	ENSP00000345229:P513L	P	-	2	0	DNER	229991139	1.000000	0.71417	0.204000	0.23530	0.812000	0.45895	9.269000	0.95684	2.835000	0.97688	0.650000	0.86243	CCA	DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.537	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	G	NM_139072		230282895	-1	no_errors	ENST00000341772	ensembl	human	known	70_37	missense	SNP	0.999	A
DPEP2	64174	genome.wustl.edu	37	16	68024864	68024864	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:68024864C>T	ENST00000572888.1	-	6	1419	c.769G>A	c.(769-771)Gta>Ata	p.V257I	DPEP2_ENST00000412757.2_Missense_Mutation_p.V257I|DPEP2_ENST00000393847.1_Missense_Mutation_p.V257I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	257					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GATAAGTCTACCATCATGCCC	0.542																																																	0													113.0	110.0	111.0					16																	68024864		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.769G>A	16.37:g.68024864C>T	ENSP00000458977:p.Val257Ile		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.V257I	ENST00000572888.1	37	c.769	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636189	0.29068	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.19394	2.15;2.15	4.9	2.9	0.33743	.	0.289561	0.33110	N	0.005270	T	0.14485	0.0350	L	0.27053	0.805	0.80722	D	1	B;B	0.26635	0.155;0.128	B;B	0.37508	0.252;0.163	T	0.11275	-1.0594	10	0.17832	T	0.49	-4.6227	4.8156	0.13365	0.1696:0.6503:0.0:0.1801	.	257;170	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	I	257;257;170	ENSP00000377430:V257I;ENSP00000412549:V257I	ENSP00000314702:V170I	V	-	1	0	DPEP2	66582365	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	0.130000	0.15850	0.753000	0.32945	0.650000	0.86243	GTA	DPEP2	-	pfam_Peptidase_M19		0.542	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	C	NM_022355		68024864	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	1.000	T
EHD1	10938	genome.wustl.edu	37	11	64622129	64622129	+	Silent	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:64622129G>A	ENST00000320631.3	-	5	1535	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	EHD1_ENST00000359393.2_Silent_p.G427G|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	427					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGGCCCCCTCGCCGTAGCCGT	0.662																																																	0													108.0	97.0	101.0					11																	64622129		2201	4296	6497	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1281C>T	11.37:g.64622129G>A			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.G427	ENST00000320631.3	37	c.1281	CCDS8084.1	11																																																																																			EHD1	-	NULL		0.662	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64622129	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	0.443	A
EML6	400954	genome.wustl.edu	37	2	55054744	55054744	+	Silent	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:55054744G>T	ENST00000356458.6	+	5	1087	c.567G>T	c.(565-567)ggG>ggT	p.G189G		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	189						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CAAAAAGAGGGATATTTGGCA	0.413																																																	0													150.0	126.0	133.0					2																	55054744		692	1591	2283	SO:0001819	synonymous_variant	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.567G>T	2.37:g.55054744G>T			A8MUB5|B6ZDG7	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G189	ENST00000356458.6	37	c.567	CCDS46286.1	2																																																																																			EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	G	XM_001725002		55054744	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	silent	SNP	0.528	T
POM121L7	728418	genome.wustl.edu	37	22	21477651	21477651	+	Intron	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:21477651C>A	ENST00000419447.1	-	2	1516				KB-1592A4.15_ENST00000420508.1_lincRNA|BCRP2_ENST00000461808.1_RNA					POM121 transmembrane nucleoporin-like 7																		TGGTGGAGACCACGCCAAGGG	0.692																																																	0																																										SO:0001627	intron_variant	0					22q11.21	2013-03-28	2012-03-13		ENSG00000239511	ENSG00000239511			35444	other	unknown			"""POM121 membrane glycoprotein-like 7"""				Standard	NG_009026		Approved		uc010gsw.2		OTTHUMG00000150783	ENST00000419447.1:c.1387-429G>T	22.37:g.21477651C>A				RNA	SNP	-	NULL	ENST00000419447.1	37	NULL		22																																																																																			KB-1592A4.15	-	-		0.692	POM121L7-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000197210	Clone_based_vega_gene	protein_coding		C	NG_009026		21477651	-1	no_errors	ENST00000420508	ensembl	human	known	70_37	rna	SNP	0.006	A
DPP6	1804	genome.wustl.edu	37	7	153755823	153755823	+	Intron	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:153755823G>A	ENST00000377770.3	+	1	384				AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000406326.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			tgggattACTGAGAGCCAGTC	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)												0																																										SO:0001627	intron_variant	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.243+5675G>A	7.37:g.153755823G>A				RNA	SNP	-	NULL	ENST00000377770.3	37	NULL		7																																																																																			AC006019.3	-	-		0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	ENSG00000203335	Clone_based_vega_gene	protein_coding	OTTHUMT00000322932.1	G	NM_130797		153755823	-1	no_errors	ENST00000366161	ensembl	human	known	70_37	rna	SNP	0.000	A
LOC102724849	102724849	genome.wustl.edu	37	2	216321685	216321685	+	lincRNA	SNP	A	A	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:216321685A>G	ENST00000447835.1	+	0	90																											gttggcaaacaccaaatctgt	0.318																																																	0																																												0																															2.37:g.216321685A>G				RNA	SNP	-	NULL	ENST00000447835.1	37	NULL		2																																																																																			AC012462.2	-	-		0.318	AC012462.2-001	KNOWN	basic	lincRNA	ENSG00000225166	Clone_based_vega_gene	lincRNA	OTTHUMT00000337320.2	A			216321685	+1	no_errors	ENST00000447835	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-367F23.1	0	genome.wustl.edu	37	9	93727554	93727554	+	lincRNA	SNP	A	A	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:93727554A>T	ENST00000427745.1	-	0	121																											ACCTGGATCCAGCGCTTCGTA	0.498																																																	0																																												0																															9.37:g.93727554A>T				RNA	SNP	-	NULL	ENST00000427745.1	37	NULL		9																																																																																			RP11-367F23.1	-	-		0.498	RP11-367F23.1-001	KNOWN	basic	lincRNA	ENSG00000228216	Clone_based_vega_gene	lincRNA	OTTHUMT00000053023.1	A			93727554	-1	no_errors	ENST00000427745	ensembl	human	known	70_37	rna	SNP	0.003	T
RP11-550P17.5	0	genome.wustl.edu	37	1	159316121	159316121	+	RNA	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:159316121G>T	ENST00000431862.1	-	0	897																											agagttttttgtttgtttata	0.259																																																	0																																												0																															1.37:g.159316121G>T				RNA	SNP	-	NULL	ENST00000431862.1	37	NULL		1																																																																																			RP11-550P17.5	-	-		0.259	RP11-550P17.5-001	KNOWN	basic	antisense	ENSG00000228560	Clone_based_vega_gene	antisense	OTTHUMT00000090626.1	G			159316121	-1	no_errors	ENST00000431862	ensembl	human	known	70_37	rna	SNP	0.013	T
STAG2	10735	genome.wustl.edu	37	X	123093241	123093241	+	5'Flank	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:123093241C>T	ENST00000371160.1	+	0	0				STAG2_ENST00000218089.9_5'Flank|STAG2_ENST00000371157.3_5'Flank|STAG2_ENST00000354548.5_5'Flank|RP1-315G1.3_ENST00000426367.1_lincRNA|STAG2_ENST00000371144.3_5'Flank|STAG2_ENST00000371145.3_5'Flank	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTTGGCGGTCAAAGGTCCAA	0.478																																																	0																																										SO:0001631	upstream_gene_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725		X.37:g.123093241C>T	Exception_encountered		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	RNA	SNP	-	NULL	ENST00000371160.1	37	NULL	CCDS14607.1	X																																																																																			RP1-315G1.3	-	-		0.478	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000232412	Clone_based_vega_gene	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123093241	-1	no_errors	ENST00000426367	ensembl	human	known	70_37	rna	SNP	0.144	T
LOC101927914	101927914	genome.wustl.edu	37	7	157261102	157261102	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:157261102G>A	ENST00000444158.1	+	0	2178																											ACACCCCCTGGGTCCACACCT	0.657																																																	0																																												0																															7.37:g.157261102G>A				RNA	SNP	-	NULL	ENST00000444158.1	37	NULL		7																																																																																			AC006372.4	-	-		0.657	AC006372.4-001	KNOWN	basic	lincRNA	ENSG00000234210	Clone_based_vega_gene	lincRNA	OTTHUMT00000327102.1	G			157261102	+1	no_errors	ENST00000444158	ensembl	human	known	70_37	rna	SNP	0.002	A
MTHFD2P1	100287639	genome.wustl.edu	37	3	95382135	95382135	+	RNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:95382135G>A	ENST00000494840.1	-	0	1122					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		ccctcatgctgagagctgtag	0.473																																																	0																																												0					3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95382135G>A				RNA	SNP	-	NULL	ENST00000494840.1	37	NULL		3																																																																																			RP11-219E24.1	-	-		0.473	MTHFD2P1-002	KNOWN	basic	processed_transcript	ENSG00000244681	Clone_based_vega_gene	pseudogene	OTTHUMT00000352943.1	G			95382135	-1	no_errors	ENST00000494840	ensembl	human	known	70_37	rna	SNP	0.016	A
FGF10-AS1	101927075	genome.wustl.edu	37	5	44413408	44413409	+	RNA	INS	-	-	A	rs78578268|rs554624163|rs77111865		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:44413408_44413409insA	ENST00000502457.1	+	0	1211_1212																											TCCTTGAAGGCAAAAAAAAAAA	0.366																																																	0																																												0																															5.37:g.44413419_44413419dupA				RNA	INS	-	NULL	ENST00000502457.1	37	NULL		5																																																																																			RP11-473L15.2	-	-		0.366	RP11-473L15.2-001	KNOWN	basic	antisense	ENSG00000248464	Clone_based_vega_gene	antisense	OTTHUMT00000368031.1	-			44413409	+1	no_errors	ENST00000502457	ensembl	human	known	70_37	rna	INS	0.000:0.001	A
PDGFC	56034	genome.wustl.edu	37	4	157853151	157853151	+	Intron	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:157853151G>A	ENST00000502773.1	-	1	609				PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATATGATTTGAGGTAAAAAT	0.244																																																	0																																										SO:0001627	intron_variant	0			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.118+38786C>T	4.37:g.157853151G>A			B4DU34|B9EGR8|Q4W5M9|Q9UL22	RNA	SNP	-	NULL	ENST00000502773.1	37	NULL	CCDS3795.1	4																																																																																			RP11-612J15.2	-	-		0.244	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250235	Clone_based_vega_gene	protein_coding	OTTHUMT00000366123.1	G			157853151	+1	no_errors	ENST00000505116	ensembl	human	known	70_37	rna	SNP	0.001	A
GMDS-AS1	100508120	genome.wustl.edu	37	6	2283981	2283981	+	IGR	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:2283981C>T								GMDS (38055 upstream) : GMDS-AS1 (107798 downstream)																							agattagaggccaaataaaaa	0.423																																																	0																																										SO:0001628	intergenic_variant	0																															6.37:g.2283981C>T				RNA	SNP	-	NULL		37	NULL		6																																																																																			RP1-80B9.2	-	-	0	0.423					ENSG00000250903	Clone_based_vega_gene			C			2283981	+1	no_errors	ENST00000456943	ensembl	human	known	70_37	rna	SNP	0.141	T
RP11-685F15.1	0	genome.wustl.edu	37	4	58462540	58462540	+	lincRNA	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:58462540C>T	ENST00000509641.2	-	0	300																											attctactttcacaaactGAG	0.393																																																	0																																												0																															4.37:g.58462540C>T				RNA	SNP	-	NULL	ENST00000509641.2	37	NULL		4																																																																																			RP11-685F15.1	-	-		0.393	RP11-685F15.1-001	KNOWN	basic	lincRNA	ENSG00000251049	Clone_based_vega_gene	lincRNA	OTTHUMT00000367709.2	C			58462540	-1	no_errors	ENST00000509641	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-414H23.3	0	genome.wustl.edu	37	5	90522623	90522623	+	lincRNA	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:90522623G>T	ENST00000510153.1	-	0	265				RP11-414H23.2_ENST00000514239.1_lincRNA																							agttctgtgtgtcaagacatt	0.368																																																	0																																												0																															5.37:g.90522623G>T				RNA	SNP	-	NULL	ENST00000510153.1	37	NULL		5																																																																																			RP11-414H23.3	-	-		0.368	RP11-414H23.3-001	KNOWN	basic	lincRNA	ENSG00000251093	Clone_based_vega_gene	lincRNA	OTTHUMT00000370461.1	G			90522623	-1	no_errors	ENST00000510153	ensembl	human	known	70_37	rna	SNP	0.001	T
CTB-12O2.1	101927115	genome.wustl.edu	37	5	151648399	151648399	+	lincRNA	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:151648399G>C	ENST00000524295.1	+	0	1981																											agggttcatggttctatgaga	0.443																																																	0																																												0																															5.37:g.151648399G>C				RNA	SNP	-	NULL	ENST00000524295.1	37	NULL		5																																																																																			CTB-12O2.1	-	-		0.443	CTB-12O2.1-001	KNOWN	basic	lincRNA	ENSG00000254226	Clone_based_vega_gene	lincRNA	OTTHUMT00000373979.1	G			151648399	+1	no_errors	ENST00000524295	ensembl	human	known	70_37	rna	SNP	0.021	C
CTB-12O2.1	101927115	genome.wustl.edu	37	5	151648402	151648403	+	lincRNA	INS	-	-	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:151648402_151648403insT	ENST00000524295.1	+	0	1984_1985																											gttcatggttctatgagaatct	0.441																																																	0																																												0																															5.37:g.151648403_151648403dupT				RNA	INS	-	NULL	ENST00000524295.1	37	NULL		5																																																																																			CTB-12O2.1	-	-		0.441	CTB-12O2.1-001	KNOWN	basic	lincRNA	ENSG00000254226	Clone_based_vega_gene	lincRNA	OTTHUMT00000373979.1	-			151648403	+1	no_errors	ENST00000524295	ensembl	human	known	70_37	rna	INS	0.019:0.020	T
LOC101927708	101927708	genome.wustl.edu	37	11	3529520	3529520	+	RNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:3529520G>A	ENST00000527970.1	-	0	391				RP13-726E6.1_ENST00000534291.1_lincRNA																							AAATGGCAATGAACTTTTTGC	0.433																																																	0																																												0																															11.37:g.3529520G>A				RNA	SNP	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			RP13-726E6.2	-	-		0.433	RP13-726E6.2-002	KNOWN	basic	processed_transcript	ENSG00000255367	Clone_based_vega_gene	processed_transcript	OTTHUMT00000392273.1	G			3529520	-1	no_errors	ENST00000527970	ensembl	human	known	70_37	rna	SNP	0.008	A
DNM1P47	100216544	genome.wustl.edu	37	15	102312095	102312095	+	RNA	SNP	G	G	T	rs199873857	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:102312095G>T	ENST00000561463.1	+	0	13463				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		GTGGGGATCCGAGTGCAGTGA	0.607													.|||	734	0.146565	0.2685	0.0879	5008	,	,		13168	0.0585		0.0746	False		,,,				2504	0.1881																0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312095G>T				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.607	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102312095	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.014	T
LOC101927650	101927650	genome.wustl.edu	37	16	65175954	65175954	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:65175954G>A	ENST00000563754.1	-	0	454																											AAGAATCATTGAATCATTTAC	0.408																																																	0																																												0																															16.37:g.65175954G>A				RNA	SNP	-	NULL	ENST00000563754.1	37	NULL		16																																																																																			RP11-95H3.1	-	-		0.408	RP11-95H3.1-001	KNOWN	basic	lincRNA	ENSG00000259847	Clone_based_vega_gene	lincRNA	OTTHUMT00000420596.2	G			65175954	-1	no_errors	ENST00000563754	ensembl	human	known	70_37	rna	SNP	0.003	A
RP11-4O1.2	0	genome.wustl.edu	37	9	114798147	114798147	+	RNA	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:114798147C>A	ENST00000563434.1	-	0	1175																											ACAACATATACATATGAATGA	0.453																																																	0																																												0																															9.37:g.114798147C>A				RNA	SNP	-	NULL	ENST00000563434.1	37	NULL		9																																																																																			RP11-4O1.2	-	-		0.453	RP11-4O1.2-002	KNOWN	basic	sense_overlapping	ENSG00000259953	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000430548.1	C			114798147	-1	no_errors	ENST00000563249	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-744K17.1	0	genome.wustl.edu	37	17	21919380	21919380	+	lincRNA	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:21919380C>T	ENST00000562182.1	+	0	30																											CATCGACTCACGTACTGCATT	0.453																																																	0																																												0																															17.37:g.21919380C>T				RNA	SNP	-	NULL	ENST00000562182.1	37	NULL		17																																																																																			RP11-744K17.1	-	-		0.453	RP11-744K17.1-001	KNOWN	basic	lincRNA	ENSG00000261020	Clone_based_vega_gene	lincRNA	OTTHUMT00000431349.1	C			21919380	+1	no_errors	ENST00000562182	ensembl	human	known	70_37	rna	SNP	0.001	T
CTC-471C19.1	0	genome.wustl.edu	37	5	6019249	6019249	+	lincRNA	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:6019249G>T	ENST00000564741.1	-	0	3147																											AACAAGCGGGGACAACATCAC	0.294																																																	0																																												0																															5.37:g.6019249G>T				RNA	SNP	-	NULL	ENST00000564741.1	37	NULL		5																																																																																			CTC-471C19.1	-	-		0.294	CTC-471C19.1-001	KNOWN	basic	lincRNA	ENSG00000261037	Clone_based_vega_gene	lincRNA	OTTHUMT00000423121.1	G			6019249	-1	no_errors	ENST00000564741	ensembl	human	known	70_37	rna	SNP	0.000	T
DENND4A	10260	genome.wustl.edu	37	15	66058980	66058980	+	Intron	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:66058980G>T	ENST00000431932.2	-	2	115				RP11-16E23.3_ENST00000567396.1_RNA|DENND4A_ENST00000443035.3_Intron	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						tcctggaactggtccccagca	0.458																																																	0																																										SO:0001627	intron_variant	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.94-5204C>A	15.37:g.66058980G>T			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	RNA	SNP	-	NULL	ENST00000431932.2	37	NULL	CCDS45285.1	15																																																																																			RP11-16E23.3	-	-		0.458	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261544	Clone_based_vega_gene	protein_coding	OTTHUMT00000419611.1	G	NM_005848		66058980	-1	no_errors	ENST00000567396	ensembl	human	known	70_37	rna	SNP	0.007	T
LAT	27040	genome.wustl.edu	37	16	29000537	29000537	+	Intron	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:29000537G>A	ENST00000360872.5	+	8	658				LAT_ENST00000395456.2_Intron|RP11-264B17.5_ENST00000561471.1_RNA|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Intron|LAT_ENST00000395461.3_Intron|LAT_ENST00000564277.1_Intron|LAT_ENST00000454369.2_Intron|LAT_ENST00000354453.4_Intron			O43561	LAT_HUMAN	linker for activation of T cells						blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTACATCCCTGCTCCCCAGCC	0.652																																																	0																																										SO:0001627	intron_variant	0			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.581-311G>A	16.37:g.29000537G>A			B7WPI0|C7C5T6|G5E9K3|O43919	RNA	SNP	-	NULL	ENST00000360872.5	37	NULL	CCDS10647.1	16																																																																																			RP11-264B17.5	-	-		0.652	LAT-001	KNOWN	basic|CCDS	protein_coding	ENSG00000261552	Clone_based_vega_gene	protein_coding	OTTHUMT00000254688.2	G			29000537	-1	no_errors	ENST00000561471	ensembl	human	known	70_37	rna	SNP	0.003	A
CTD-2561B21.11	0	genome.wustl.edu	37	17	78991807	78991807	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:78991807G>A	ENST00000572036.1	-	0	830																											gaaagctacagaagcaacaaa	0.463																																																	0																																												0																															17.37:g.78991807G>A				RNA	SNP	-	NULL	ENST00000572036.1	37	NULL		17																																																																																			CTD-2561B21.11	-	-		0.463	CTD-2561B21.11-001	KNOWN	basic	lincRNA	ENSG00000262873	Clone_based_vega_gene	lincRNA	OTTHUMT00000438542.1	G			78991807	-1	no_errors	ENST00000572036	ensembl	human	known	70_37	rna	SNP	0.022	A
NF1	4763	genome.wustl.edu	37	17	29464558	29464558	+	Intron	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:29464558G>C	ENST00000358273.4	+	2	443				RP11-142O6.1_ENST00000584382.1_RNA|NF1_ENST00000356175.3_Intron|NF1_ENST00000431387.4_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		cattttccttgaggatttcct	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)																																								SO:0001627	intron_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.61-18443G>C	17.37:g.29464558G>C			O00662|Q14284|Q14930|Q14931|Q9UMK3	RNA	SNP	-	NULL	ENST00000358273.4	37	NULL	CCDS42292.1	17																																																																																			RP11-142O6.1	-	-		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000266371	Clone_based_vega_gene	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29464558	+1	no_errors	ENST00000584382	ensembl	human	known	70_37	rna	SNP	0.238	C
OGFOD3	79701	genome.wustl.edu	37	17	80358595	80358595	+	Intron	SNP	T	T	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:80358595T>C	ENST00000313056.5	-	8	851				OGFOD3_ENST00000329197.5_Intron|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TTTTGATGCATGATTTATTCA	0.313																																																	0																																										SO:0001627	intron_variant	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.700-2400A>G	17.37:g.80358595T>C			C9JDC8|Q8IZ37|Q9H6J2	RNA	SNP	-	NULL	ENST00000313056.5	37	NULL	CCDS11811.1	17																																																																																			RP13-20L14.4	-	-		0.313	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264812	Clone_based_vega_gene	protein_coding	OTTHUMT00000442895.1	T	NM_175902		80358595	-1	no_errors	ENST00000579188	ensembl	human	known	70_37	rna	SNP	0.003	C
ZNF544	27300	genome.wustl.edu	37	19	58769924	58769924	+	Intron	SNP	G	G	C	rs71190014|rs113662427		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr19:58769924G>C	ENST00000596652.1	+	6	478				ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_Intron|ZNF544_ENST00000599227.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000269829.4_Intron|ZNF544_ENST00000599953.1_Intron|ZNF544_ENST00000600044.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000594384.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGGGCACCAGGTGTGAGGGT	0.662																																																	0																																										SO:0001627	intron_variant	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.245-2293G>C	19.37:g.58769924G>C			A8K6J1|Q9UEX4	RNA	SNP	-	NULL	ENST00000596652.1	37	NULL	CCDS12973.1	19																																																																																			CTD-3138B18.5	-	-		0.662	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268516	Clone_based_vega_gene	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58769924	-1	no_errors	ENST00000597230	ensembl	human	known	70_37	rna	SNP	0.002	C
FADD	8772	genome.wustl.edu	37	11	70049620	70049620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:70049620G>T	ENST00000301838.4	+	1	352	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	19	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.E19K(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTCGAGCAGCGAGCTGACCGA	0.692																																																	1	Substitution - Missense(1)	urinary_tract(1)											13.0	13.0	13.0					11																	70049620		2185	4261	6446	SO:0001587	stop_gained	8772			U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.55G>T	11.37:g.70049620G>T	ENSP00000301838:p.Glu19*		Q14866|Q6IBR4	Nonsense_Mutation	SNP	pfam_Death,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Death,pirsf_FADD,pfscan_Death,pfscan_DED	p.E19*	ENST00000301838.4	37	c.55	CCDS8196.1	11	.	.	.	.	.	.	.	.	.	.	G	40	7.987141	0.98596	.	.	ENSG00000168040	ENST00000301838	.	.	.	4.39	4.39	0.52855	.	0.399782	0.27366	N	0.019700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7917	14.7887	0.69824	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000301838:E19X	E	+	1	0	FADD	69727268	0.999000	0.42202	0.077000	0.20336	0.983000	0.72400	3.731000	0.55013	2.158000	0.67659	0.491000	0.48974	GAG	FADD	-	pfam_DED,superfamily_DEATH-like,smart_DED,pirsf_FADD,pfscan_DED		0.692	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADD	HGNC	protein_coding	OTTHUMT00000393902.1	G	NM_003824		70049620	+1	no_errors	ENST00000301838	ensembl	human	known	70_37	nonsense	SNP	0.280	T
FER1L4	80307	genome.wustl.edu	37	20	34173150	34173150	+	RNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr20:34173150G>A	ENST00000430275.2	-	0	2688							A9Z1Z3	FR1L4_HUMAN	fer-1-like family member 4, pseudogene (functional)							integral component of membrane (GO:0016021)											GCCACACGGCGCTGCCCGCTG	0.647																																																	0																																												80307			AL121586		20q11.23	2014-09-11	2014-06-27		ENSG00000088340	ENSG00000088340		"""-"""	15801	pseudogene	pseudogene			"""fer-1-like 4 (C. elegans)"", ""fer-1-like 4 (C. elegans), pseudogene (functional)"""	C20orf124		24063685, 24961353	Standard	XR_425236		Approved	bA563A22B.1, dJ309K20.1	uc002xcx.3	A9Z1Z3	OTTHUMG00000032354		20.37:g.34173150G>A			Q9GZQ9|Q9H646|Q9H8L7	RNA	SNP	-	NULL	ENST00000430275.2	37	NULL		20																																																																																			FER1L4	-	-		0.647	FER1L4-016	KNOWN	basic	processed_transcript	FER1L4	HGNC	pseudogene	OTTHUMT00000443297.1	G	NR_024377		34173150	-1	no_errors	ENST00000430275	ensembl	human	known	70_37	rna	SNP	0.996	A
FGFR2	2263	genome.wustl.edu	37	10	123246890	123246890	+	Missense_Mutation	SNP	C	C	T	rs371596204		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr10:123246890C>T	ENST00000358487.5	-	15	2307	c.2035G>A	c.(2035-2037)Gta>Ata	p.V679I	FGFR2_ENST00000369061.4_Missense_Mutation_p.V567I|FGFR2_ENST00000478859.1_Missense_Mutation_p.V451I|FGFR2_ENST00000356226.4_Missense_Mutation_p.V562I|FGFR2_ENST00000357555.5_Missense_Mutation_p.V590I|FGFR2_ENST00000457416.2_Missense_Mutation_p.V680I|FGFR2_ENST00000369060.4_Missense_Mutation_p.V563I|FGFR2_ENST00000360144.3_Missense_Mutation_p.V591I|FGFR2_ENST00000351936.6_Missense_Mutation_p.V677I|FGFR2_ENST00000369059.1_Missense_Mutation_p.V565I|FGFR2_ENST00000369056.1_Missense_Mutation_p.V680I|FGFR2_ENST00000346997.2_Missense_Mutation_p.V677I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGAGTGTATACTCTATCAAAC	0.403		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	61.0	60.0		2035,2038,1699,1768,1690,1687,1684,1771,2038	4.3	0.9	10		60	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign	679/822,680/770,567/710,590/708,564/707,563/706,562/705,591/681,680/823	123246890	1,13005	2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2035G>A	10.37:g.123246890C>T	ENSP00000351276:p.Val679Ile		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V680I	ENST00000358487.5	37	c.2038	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809110	0.50421	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.2	4.27	0.50696	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	N	0.16016	0.355	0.80722	D	1	B;B;B;B;B;B;B;B	0.31655	0.334;0.013;0.011;0.129;0.027;0.008;0.003;0.046	B;B;B;B;B;B;B;B	0.36989	0.238;0.019;0.017;0.161;0.075;0.02;0.011;0.047	T	0.68307	-0.5443	10	0.21540	T	0.41	.	15.7391	0.77870	0.0:0.8628:0.1372:0.0	.	696;678;590;562;679;591;680;582	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	I	590;680;567;679;562;563;565;271;677;680;677;591;680;680;588	ENSP00000350166:V590I;ENSP00000358057:V567I;ENSP00000351276:V679I;ENSP00000348559:V562I;ENSP00000358056:V563I;ENSP00000358055:V565I;ENSP00000404219:V271I;ENSP00000263451:V677I;ENSP00000410294:V680I;ENSP00000309878:V677I;ENSP00000353262:V591I;ENSP00000358052:V680I;ENSP00000358054:V680I;ENSP00000337665:V588I	ENSP00000337665:V588I	V	-	1	0	FGFR2	123236880	1.000000	0.71417	0.913000	0.36048	0.944000	0.59088	5.842000	0.69417	1.261000	0.44149	0.655000	0.94253	GTA	FGFR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.403	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	C	NM_022976, NM_000141		123246890	-1	no_errors	ENST00000457416	ensembl	human	known	70_37	missense	SNP	1.000	T
FHL3	2275	genome.wustl.edu	37	1	38471151	38471151	+	5'UTR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:38471151G>A	ENST00000373016.3	-	0	26				FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3						actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCTGCCGGCGAGGCTGCCGA	0.821																																																	0																																										SO:0001623	5_prime_UTR_variant	2275			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.-143C>T	1.37:g.38471151G>A			D3DPT6|Q6I9T0|Q9BVA2	RNA	SNP	-	NULL	ENST00000373016.3	37	NULL	CCDS30678.1	1																																																																																			FHL3	-	-		0.821	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	G	NM_004468		38471151	-1	no_errors	ENST00000475084	ensembl	human	known	70_37	rna	SNP	0.003	A
FTCD	10841	genome.wustl.edu	37	21	47570313	47570313	+	Nonsense_Mutation	SNP	G	G	A	rs140217223		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr21:47570313G>A	ENST00000291670.5	-	6	806	c.763C>T	c.(763-765)Cga>Tga	p.R255*	FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000355384.2_Nonsense_Mutation_p.R255*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.R255*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.R255*|FTCD_ENST00000397748.1_Nonsense_Mutation_p.R255*|FTCD_ENST00000397743.1_Nonsense_Mutation_p.R255*	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	255	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TGTGCTTCTCGGCAGGTCTCC	0.647																																																	0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	56.0		763,763	0.9	1.0	21	dbSNP_134	56	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	FTCD	NM_006657.2,NM_206965.1	,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	,	255/542,255/542	47570313	2,13002	2203	4299	6502	SO:0001587	stop_gained	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.763C>T	21.37:g.47570313G>A	ENSP00000291670:p.Arg255*		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Nonsense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R255*	ENST00000291670.5	37	c.763	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437227	0.83885	2.27E-4	1.16E-4	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	.	.	.	4.83	0.896	0.19253	.	0.425256	0.26450	N	0.024310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9128	0.41417	0.1104:0.0:0.4836:0.406	.	.	.	.	X	255	.	ENSP00000291670:R255X	R	-	1	2	FTCD	46394741	1.000000	0.71417	0.982000	0.44146	0.287000	0.27160	1.712000	0.37940	-0.087000	0.12528	-1.051000	0.02340	CGA	FTCD	-	pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.647	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	G	NM_006657		47570313	-1	no_errors	ENST00000359679	ensembl	human	known	70_37	nonsense	SNP	0.999	A
GATA1	2623	genome.wustl.edu	37	X	48652558	48652558	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:48652558C>T	ENST00000376670.3	+	6	1340	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	GATA1_ENST00000376665.3_Silent_p.S296S	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	410					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GTGGTGGCTCCGCTCAGCTCA	0.632			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								C|||	1	0.000264901	0.0008	0.0	3775	,	,		12496	0.0		0.0	False		,,,				2504	0.0				Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													19.0	20.0	20.0					X																	48652558		2188	4281	6469	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1229C>T	X.37:g.48652558C>T	ENSP00000365858:p.Pro410Leu		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P410L	ENST00000376670.3	37	c.1229	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195477	0.38806	.	.	ENSG00000102145	ENST00000376670	D	0.97976	-4.64	3.33	3.33	0.38152	.	0.202112	0.24730	U	0.036070	D	0.93106	0.7805	N	0.14661	0.345	0.80722	D	1	D	0.61697	0.99	B	0.43508	0.422	D	0.92764	0.6226	10	0.72032	D	0.01	-9.3607	9.2917	0.37791	0.0:1.0:0.0:0.0	.	410	P15976	GATA1_HUMAN	L	410	ENSP00000365858:P410L	ENSP00000365858:P410L	P	+	2	0	GATA1	48537502	0.497000	0.26067	0.951000	0.38953	0.051000	0.14879	4.468000	0.60162	1.932000	0.55993	0.351000	0.21866	CCG	GATA1	-	NULL		0.632	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	C	NM_002049		48652558	+1	no_errors	ENST00000376670	ensembl	human	known	70_37	missense	SNP	0.975	T
GABRE	2564	genome.wustl.edu	37	X	151121844	151121844	+	3'UTR	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:151121844C>A	ENST00000370328.3	-	0	2903				GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATTCTGGGCCTTGCCACTGG	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.*1329G>T	X.37:g.151121844C>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	RNA	SNP	-	NULL	ENST00000370328.3	37	NULL	CCDS14703.1	X																																																																																			GABRE	-	-		0.527	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	C	NM_004961, NM_021990, NM_021984		151121844	-1	no_errors	ENST00000483564	ensembl	human	known	70_37	rna	SNP	0.000	A
GDI1	2664	genome.wustl.edu	37	X	153670141	153670141	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:153670141G>T	ENST00000447750.2	+	8	1326	c.991G>T	c.(991-993)Gac>Tac	p.D331Y	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	331					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGAAGTCAGGTAGGCCGGG	0.532																																																	0													105.0	92.0	97.0					X																	153670141		2203	4300	6503	SO:0001630	splice_region_variant	2664			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.991+1G>T	X.37:g.153670141G>T			P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.D331Y	ENST00000447750.2	37	c.991	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500679	0.85176	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.91351	-2.83	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97710	1.0190	10	0.87932	D	0	-14.3817	15.3157	0.74074	0.0:0.0:1.0:0.0	.	331	P31150	GDIA_HUMAN	Y	331;315	ENSP00000394071:D331Y	ENSP00000358756:D315Y	D	+	1	0	GDI1	153323335	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.760000	0.98935	2.207000	0.71202	0.436000	0.28706	GAC	GDI1	-	pfam_GDP_dissociation_inhibitor,prints_RabGDI		0.532	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	G	NM_001493	Missense_Mutation	153670141	+1	no_errors	ENST00000447750	ensembl	human	known	70_37	missense	SNP	1.000	T
GFRA3	2676	genome.wustl.edu	37	5	137599970	137599970	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:137599970A>G	ENST00000274721.3	-	2	605	c.359T>C	c.(358-360)gTt>gCt	p.V120A	GFRA3_ENST00000378362.3_Missense_Mutation_p.V120A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	120					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCACGGTGAACGGTCCAATA	0.552																																																	0													84.0	75.0	78.0					5																	137599970		2203	4300	6503	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.359T>C	5.37:g.137599970A>G	ENSP00000274721:p.Val120Ala		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.V120A	ENST00000274721.3	37	c.359	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655743	0.47467	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64085	-0.08;-0.08	5.28	4.14	0.48551	GDNF/GAS1 (2);	0.427443	0.21746	N	0.069748	T	0.56470	0.1987	M	0.61703	1.905	0.24518	N	0.994178	B;B	0.18968	0.026;0.032	B;B	0.22386	0.023;0.039	T	0.55179	-0.8181	10	0.72032	D	0.01	-0.9633	7.0398	0.25013	0.9013:0.0:0.0987:0.0	.	120;120	O60609-2;O60609	.;GFRA3_HUMAN	A	120	ENSP00000274721:V120A;ENSP00000367613:V120A	ENSP00000274721:V120A	V	-	2	0	GFRA3	137627869	0.931000	0.31567	0.865000	0.33974	0.673000	0.39480	3.429000	0.52800	2.003000	0.58678	0.459000	0.35465	GTT	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt		0.552	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	A	NM_001496		137599970	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	missense	SNP	0.825	G
GOLGA3	2802	genome.wustl.edu	37	12	133378543	133378543	+	Missense_Mutation	SNP	C	C	T	rs572488166		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:133378543C>T	ENST00000450791.2	-	7	1793	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R537Q|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R537Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R537Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R537Q			Q08378	GOGA3_HUMAN	golgin A3	537					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CATCTGCTGTCGCAGGTCGTG	0.667																																																	0													30.0	27.0	28.0					12																	133378543		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1610G>A	12.37:g.133378543C>T	ENSP00000410378:p.Arg537Gln		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R537Q	ENST00000450791.2	37	c.1610	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835656	0.91117	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.79463	-0.1793	10	0.28530	T	0.3	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	537;537;537	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Q	537	ENSP00000204726:R537Q;ENSP00000410378:R537Q;ENSP00000409303:R537Q;ENSP00000442143:R537Q;ENSP00000442603:R537Q	ENSP00000204726:R537Q	R	-	2	0	GOLGA3	131888616	1.000000	0.71417	0.445000	0.26908	0.482000	0.33219	6.045000	0.71020	2.755000	0.94549	0.655000	0.94253	CGA	GOLGA3	-	NULL		0.667	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	C	NM_005895		133378543	-1	no_errors	ENST00000204726	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685081	23685081	+	Silent	SNP	C	C	T	rs76853242		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:23685081C>T	ENST00000567107.1	-	8	2593	c.2541G>A	c.(2539-2541)ggG>ggA	p.G847G	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	606										breast(1)|endometrium(7)	8						ctcctcctggccccgcatctt	0.612																																																	0																																										SO:0001819	synonymous_variant	283685			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2541G>A	15.37:g.23685081C>T			A1L301	Silent	SNP	NULL	p.G847	ENST00000567107.1	37	c.2541		15																																																																																			GOLGA6L2	-	NULL		0.612	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	C	NM_182561		23685081	-1	no_errors	ENST00000567107	ensembl	human	putative	70_37	silent	SNP	0.000	T
GPX8	493869	genome.wustl.edu	37	5	54460615	54460615	+	3'UTR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:54460615G>A	ENST00000503787.1	+	0	1274				CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000296734.6_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)						response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TTGTGTACAGGATTTTGTTTT	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.*569G>A	5.37:g.54460615G>A				RNA	SNP	-	NULL	ENST00000503787.1	37	NULL	CCDS34156.1	5																																																																																			GPX8	-	-		0.249	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	G	NM_001008397		54460615	+1	no_errors	ENST00000506123	ensembl	human	known	70_37	rna	SNP	0.000	A
HEPN1	641654	genome.wustl.edu	37	11	124791168	124791168	+	IGR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:124791168G>A	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Missense_Mutation_p.R373W	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGTGTGTCCGGCCGGTGgct	0.776																																																	0													1.0	1.0	1.0					11																	124791168		524	1220	1744	SO:0001628	intergenic_variant	220296			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124791168G>A				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R373W	ENST00000408930.5	37	c.1117	CCDS41729.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994637	0.93167	.	.	ENSG00000165478	ENST00000298251	T	0.54071	0.59	5.22	4.31	0.51392	.	0.244952	0.32473	N	0.006047	T	0.40743	0.1129	L	0.29908	0.895	0.38687	D	0.952673	B	0.10296	0.003	B	0.01281	0.0	T	0.37753	-0.9692	10	0.66056	D	0.02	-11.947	11.4056	0.49896	0.0849:0.0:0.9151:0.0	.	373	Q14CZ8	HECAM_HUMAN	W	373	ENSP00000298251:R373W	ENSP00000298251:R373W	R	-	1	2	HEPACAM	124296378	0.966000	0.33281	0.991000	0.47740	0.995000	0.86356	1.022000	0.30052	1.174000	0.42811	0.655000	0.94253	CGG	HEPACAM	-	NULL		0.776	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM	HGNC	protein_coding	OTTHUMT00000387129.1	G	NM_001037558		124791168	-1	no_errors	ENST00000298251	ensembl	human	known	70_37	missense	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152186490	152186490	+	Missense_Mutation	SNP	C	C	T	rs201463788	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:152186490C>T	ENST00000368801.2	-	3	7690	c.7615G>A	c.(7615-7617)Ggc>Agc	p.G2539S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2539				G -> S (in Ref. 1; BAC57496). {ECO:0000305}.	establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACGCTGGCCGTGGCCTGGA	0.632													C|||	888	0.177316	0.1203	0.2147	5008	,	,		40970	0.2679		0.0934	False		,,,				2504	0.2209																0													1.0	1.0	1.0					1																	152186490		2	12	14	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7615G>A	1.37:g.152186490C>T	ENSP00000357791:p.Gly2539Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G2539S	ENST00000368801.2	37	c.7615	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	8.448	0.852355	0.17106	.	.	ENSG00000197915	ENST00000368801	T	0.05081	3.5	3.1	-1.4	0.08968	.	.	.	.	.	T	0.00967	0.0032	L	0.40543	1.245	0.80722	P	0.0	P	0.39181	0.663	B	0.20184	0.028	T	0.49818	-0.8899	8	0.11794	T	0.64	.	7.0816	0.25234	0.0:0.4912:0.0:0.5088	rs7514457;rs9661330	2539	Q86YZ3	HORN_HUMAN	S	2539	ENSP00000357791:G2539S	ENSP00000357791:G2539S	G	-	1	0	HRNR	150453114	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.984000	0.03755	-0.477000	0.06832	0.603000	0.83216	GGC	HRNR	-	NULL		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152186490	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
KIAA1522	57648	genome.wustl.edu	37	1	33236208	33236208	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:33236208C>T	ENST00000373480.1	+	6	1354	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Silent_p.L476L|KIAA1522_ENST00000373481.3_Silent_p.L428L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	417	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGACACACTCAGCATTCGGA	0.662																																																	0													31.0	36.0	34.0					1																	33236208		2049	4191	6240	SO:0001819	synonymous_variant	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1251C>T	1.37:g.33236208C>T			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	NULL	p.L476	ENST00000373480.1	37	c.1428	CCDS55588.1	1																																																																																			KIAA1522	-	NULL		0.662	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33236208	+1	no_errors	ENST00000401073	ensembl	human	known	70_37	silent	SNP	0.484	T
HRNR	388697	genome.wustl.edu	37	1	152188964	152188964	+	Missense_Mutation	SNP	C	C	T	rs78582525	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:152188964C>T	ENST00000368801.2	-	3	5216	c.5141G>A	c.(5140-5142)aGc>aAc	p.S1714N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1714					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGGCCGCGGCTAGGGGACTG	0.642																																																	0													7.0	3.0	4.0					1																	152188964		1115	2296	3411	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5141G>A	1.37:g.152188964C>T	ENSP00000357791:p.Ser1714Asn		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1714N	ENST00000368801.2	37	c.5141	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.643	0.303319	0.10678	.	.	ENSG00000197915	ENST00000368801	T	0.02085	4.46	2.47	1.44	0.22558	.	.	.	.	.	T	0.00695	0.0023	L	0.38175	1.15	0.09310	N	1	P	0.45531	0.86	B	0.43783	0.431	T	0.43278	-0.9401	9	0.16896	T	0.51	.	3.5335	0.07785	0.0:0.5652:0.2725:0.1623	.	1714	Q86YZ3	HORN_HUMAN	N	1714	ENSP00000357791:S1714N	ENSP00000357791:S1714N	S	-	2	0	HRNR	150455588	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.340000	0.19892	0.302000	0.22762	0.500000	0.49745	AGC	HRNR	-	NULL		0.642	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188964	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.006	T
KLHL18	23276	genome.wustl.edu	37	3	47364191	47364191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:47364191C>T	ENST00000232766.5	+	3	414	c.394C>T	c.(394-396)Cga>Tga	p.R132*	KLHL18_ENST00000455924.2_Nonsense_Mutation_p.R20*	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	132								p.R132*(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CACATTCCTTCGAGAACGGTG	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											71.0	63.0	66.0					3																	47364191		2203	4300	6503	SO:0001587	stop_gained	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.394C>T	3.37:g.47364191C>T	ENSP00000232766:p.Arg132*		A8K612|Q7Z3E8|Q8N125	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R132*	ENST00000232766.5	37	c.394	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910488	0.52439	.	.	ENSG00000114648	ENST00000232766;ENST00000437353;ENST00000455924	.	.	.	5.29	3.33	0.38152	.	0.212152	0.41712	D	0.000839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.3802	0.49752	0.512:0.488:0.0:0.0	.	.	.	.	X	132;132;20	.	ENSP00000232766:R132X	R	+	1	2	KLHL18	47339195	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	3.262000	0.51538	1.447000	0.47661	0.655000	0.94253	CGA	KLHL18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.512	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	C	NM_025010		47364191	+1	no_errors	ENST00000232766	ensembl	human	known	70_37	nonsense	SNP	0.999	T
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A
KRTAP10-6	386674	genome.wustl.edu	37	21	46011964	46011964	+	Silent	SNP	T	T	C	rs587611979	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr21:46011964T>C	ENST00000400368.1	-	1	422	c.402A>G	c.(400-402)tcA>tcG	p.S134S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	134	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCTGGCAGCATGAAGAATCCC	0.642													.|||	4	0.000798722	0.0	0.0	5008	,	,		21320	0.0		0.003	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.402A>G	21.37:g.46011964T>C				Silent	SNP	NULL	p.S134	ENST00000400368.1	37	c.402	CCDS42959.1	21																																																																																			KRTAP10-6	-	NULL		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	T	NM_198688		46011964	-1	no_errors	ENST00000400368	ensembl	human	known	70_37	silent	SNP	0.250	C
LCE2C	353140	genome.wustl.edu	37	1	152648817	152648817	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:152648817G>A	ENST00000368783.1	+	2	381	c.326G>A	c.(325-327)tGc>tAc	p.C109Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	109	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGGCTGCTGCTGACCT	0.602																																																	0													32.0	37.0	35.0					1																	152648817		2136	4221	6357	SO:0001583	missense	353140				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.326G>A	1.37:g.152648817G>A	ENSP00000357772:p.Cys109Tyr			Missense_Mutation	SNP	NULL	p.C109Y	ENST00000368783.1	37	c.326	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332394	0.41297	.	.	ENSG00000187180	ENST00000368783	T	0.04083	3.71	3.15	3.15	0.36227	.	.	.	.	.	T	0.08358	0.0208	M	0.71206	2.165	0.23802	N	0.996803	D	0.64830	0.994	P	0.61477	0.889	T	0.07046	-1.0793	9	0.87932	D	0	.	9.9175	0.41444	0.0:0.0:1.0:0.0	.	109	Q5TA81	LCE2C_HUMAN	Y	109	ENSP00000357772:C109Y	ENSP00000357772:C109Y	C	+	2	0	LCE2C	150915441	0.863000	0.29885	0.957000	0.39632	0.958000	0.62258	2.779000	0.47734	1.763000	0.52060	0.563000	0.77884	TGC	LCE2C	-	NULL		0.602	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	G	NM_178429		152648817	+1	no_errors	ENST00000368783	ensembl	human	known	70_37	missense	SNP	0.997	A
LEPREL1	55214	genome.wustl.edu	37	3	189705337	189705337	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:189705337C>T	ENST00000319332.5	-	5	1274	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	LEPREL1_ENST00000427335.2_Silent_p.P178P	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	359					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAATGGATGCCGGGTCAATGC	0.423																																																	0													95.0	83.0	87.0					3																	189705337		2203	4300	6503	SO:0001819	synonymous_variant	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1077G>A	3.37:g.189705337C>T			B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P359	ENST00000319332.5	37	c.1077	CCDS3294.1	3																																																																																			LEPREL1	-	NULL		0.423	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189705337	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	silent	SNP	0.038	T
LIN9	286826	genome.wustl.edu	37	1	226455783	226455783	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:226455783G>A	ENST00000328205.5	-	8	1284	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	LIN9_ENST00000366801.1_Missense_Mutation_p.R196C|LIN9_ENST00000481685.1_Missense_Mutation_p.R212C	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	231	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGAACACCACGTAATCGTGCT	0.363																																					Ovarian(197;1696 2974 11248 14117)												0													117.0	102.0	107.0					1																	226455783		2203	4300	6503	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.739C>T	1.37:g.226455783G>A	ENSP00000329102:p.Arg247Cys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.R247C	ENST00000328205.5	37	c.739	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628727	0.87560	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85561	0.5725	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.87578	0.994;0.998;0.817	D	0.85889	0.1427	9	0.66056	D	0.02	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	212;231;381	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	C	207;247;302;196;212;381	.	ENSP00000329102:R247C	R	-	1	0	LIN9	224522406	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.034000	0.64152	2.937000	0.99478	0.650000	0.86243	CGT	LIN9	-	pfam_DIRP		0.363	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	G	NM_173083		226455783	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC100133669	100133669	genome.wustl.edu	37	8	144090003	144090003	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr8:144090003G>A	ENST00000502167.2	-	0	947																											gggaggcagtgggcaggctgg	0.622																																																	0																																												100133669																															8.37:g.144090003G>A				RNA	SNP	-	NULL	ENST00000502167.2	37	NULL		8																																																																																			RP11-273G15.2	-	-		0.622	RP11-273G15.2-001	KNOWN	basic	lincRNA	LOC100133669	Clone_based_vega_gene	lincRNA	OTTHUMT00000380066.1	G			144090003	-1	no_errors	ENST00000502167	ensembl	human	known	70_37	rna	SNP	0.022	A
LOC100133669	100133669	genome.wustl.edu	37	8	144090068	144090068	+	lincRNA	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr8:144090068G>C	ENST00000502167.2	-	0	882																											ggcatggtctgccagtgcaga	0.682																																																	0																																												100133669																															8.37:g.144090068G>C				RNA	SNP	-	NULL	ENST00000502167.2	37	NULL		8																																																																																			RP11-273G15.2	-	-		0.682	RP11-273G15.2-001	KNOWN	basic	lincRNA	LOC100133669	Clone_based_vega_gene	lincRNA	OTTHUMT00000380066.1	G			144090068	-1	no_errors	ENST00000502167	ensembl	human	known	70_37	rna	SNP	0.023	C
GACAT2	100287082	genome.wustl.edu	37	18	8695864	8695864	+	RNA	SNP	A	A	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:8695864A>C	ENST00000579368.1	-	0	807																											TAATATTTAAAATGTTTATTT	0.318																																																	0																																												100287082																															18.37:g.8695864A>C				RNA	SNP	-	NULL	ENST00000579368.1	37	NULL		18																																																																																			RP11-674N23.1	-	-		0.318	RP11-674N23.1-001	KNOWN	basic	antisense	LOC100287082	Clone_based_vega_gene	antisense	OTTHUMT00000444099.1	A			8695864	-1	no_errors	ENST00000579368	ensembl	human	known	70_37	rna	SNP	0.002	C
LOC100287225	100287225	genome.wustl.edu	37	18	49088593	49088593	+	IGR	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:49088593C>T								snoU13 (15775 upstream) : RP11-25O3.1 (774137 downstream)																							AGTGTATACACGTATACACAA	0.368																																																	0																																										SO:0001628	intergenic_variant	100287225																															18.37:g.49088593C>T				RNA	SNP	-	NULL		37	NULL		18																																																																																			RP11-267C16.1	-	-	0	0.368					LOC100287225	Clone_based_vega_gene			C			49088593	+1	no_errors	ENST00000435144	ensembl	human	known	70_37	rna	SNP	0.001	T
LOC100506098	100506098	genome.wustl.edu	37	7	20261234	20261235	+	RNA	INS	-	-	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:20261234_20261235insC	ENST00000430859.1	+	0	659_660																											GAAAATTTCCAAGGCATAGTTT	0.322																																																	0																																												100506098																															7.37:g.20261234_20261235insC				RNA	INS	-	NULL	ENST00000430859.1	37	NULL		7																																																																																			AC005083.1	-	-		0.322	AC005083.1-002	KNOWN	basic	lincRNA	LOC100506098	Clone_based_vega_gene	processed_transcript	OTTHUMT00000326479.1	-			20261235	+1	no_errors	ENST00000430859	ensembl	human	known	70_37	rna	INS	0.884:0.855	C
LINC00933	100506874	genome.wustl.edu	37	15	85121556	85121557	+	RNA	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:85121556_85121557insA	ENST00000557887.1	+	0	756_757					NR_038273.1|NR_038274.1				long intergenic non-protein coding RNA 933																		TTTCTTGCCTTAAAAAAAAAAA	0.277																																																	0																																												100506874					15q25.2	2013-05-29			ENSG00000259728	ENSG00000259728		"""Long non-coding RNAs"""	48625	non-coding RNA	RNA, long non-coding							Standard	NR_038273		Approved				OTTHUMG00000172445		15.37:g.85121567_85121567dupA				RNA	INS	-	NULL	ENST00000557887.1	37	NULL		15																																																																																			RP11-182J1.9	-	-		0.277	LINC00933-001	KNOWN	basic	processed_transcript	LOC100506874	Clone_based_vega_gene	pseudogene	OTTHUMT00000418591.1	-			85121557	+1	no_errors	ENST00000557887	ensembl	human	known	70_37	rna	INS	0.005:0.004	A
LINC00969	440993	genome.wustl.edu	37	3	195393212	195393212	+	lincRNA	SNP	C	C	T	rs2688565		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:195393212C>T	ENST00000445430.1	+	0	796									long intergenic non-protein coding RNA 969																		GATATAACCACGTGAGGGTGA	0.453																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195393212C>T				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.453	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	C			195393212	+1	no_errors	ENST00000457233	ensembl	human	known	70_37	rna	SNP	0.000	T
IGF2R	3482	genome.wustl.edu	37	6	160516880	160516880	+	Intron	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:160516880G>A	ENST00000356956.1	+	45	6803				RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor						insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGCTATTGAAGATGTGTACAT	0.443																																																	0																																										SO:0001627	intron_variant	729603			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6656-591G>A	6.37:g.160516880G>A			Q7Z7G9|Q96PT5	RNA	SNP	-	NULL	ENST00000356956.1	37	NULL	CCDS5273.1	6																																																																																			RP11-288H12.3	-	-		0.443	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729603	Clone_based_vega_gene	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160516880	+1	no_errors	ENST00000569097	ensembl	human	known	70_37	rna	SNP	0.024	A
IGF2R	3482	genome.wustl.edu	37	6	160516957	160516957	+	Intron	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:160516957G>C	ENST00000356956.1	+	45	6803				RP11-288H12.3_ENST00000569097.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor						insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GAGAACAGGGGAGTAGCCAGG	0.378																																																	0																																										SO:0001627	intron_variant	729603			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6656-514G>C	6.37:g.160516957G>C			Q7Z7G9|Q96PT5	RNA	SNP	-	NULL	ENST00000356956.1	37	NULL	CCDS5273.1	6																																																																																			RP11-288H12.3	-	-		0.378	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729603	Clone_based_vega_gene	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160516957	+1	no_errors	ENST00000569097	ensembl	human	known	70_37	rna	SNP	0.002	C
LOXL1-AS1	100287616	genome.wustl.edu	37	15	74210676	74210676	+	RNA	SNP	T	T	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:74210676T>C	ENST00000567257.1	-	0	1618				LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000565689.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA	NR_040066.1				LOXL1 antisense RNA 1																		ctgagaaccattgcagagctt	0.463																																																	0																																												100287616			AK056885		15q24.1	2012-10-12	2012-08-15		ENSG00000261801	ENSG00000261801		"""Long non-coding RNAs"""	44169	non-coding RNA	RNA, long non-coding			"""LOXL1 antisense RNA 1 (non-protein coding)"""				Standard	NR_040066		Approved		uc002awa.2		OTTHUMG00000172711		15.37:g.74210676T>C				RNA	SNP	-	NULL	ENST00000567257.1	37	NULL		15																																																																																			LOXL1-AS1	-	-		0.463	LOXL1-AS1-001	KNOWN	basic	antisense	LOXL1-AS1	HGNC	antisense	OTTHUMT00000420129.1	T	NR_040066		74210676	-1	no_errors	ENST00000564194	ensembl	human	known	70_37	rna	SNP	0.000	C
LRIG1	26018	genome.wustl.edu	37	3	66431162	66431162	+	Missense_Mutation	SNP	G	G	T	rs144222680		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:66431162G>T	ENST00000273261.3	-	18	3418	c.2894C>A	c.(2893-2895)cCg>cAg	p.P965Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.P942Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	965					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACCCGGCTCCGGGCCATTTGG	0.627																																																	0													67.0	70.0	69.0					3																	66431162		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2894C>A	3.37:g.66431162G>T	ENSP00000273261:p.Pro965Gln		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P965Q	ENST00000273261.3	37	c.2894	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.681053	0.03353	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.61859	0.07;0.12	5.65	-11.3	0.00108	.	1.052280	0.07379	N	0.887124	T	0.11196	0.0273	N	0.00265	-1.74	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.07578	-1.0765	10	0.02654	T	1	.	2.8807	0.05646	0.2408:0.1766:0.425:0.1576	.	942;965;965	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	Q	965;942;868	ENSP00000273261:P965Q;ENSP00000373208:P942Q	ENSP00000273261:P965Q	P	-	2	0	LRIG1	66513852	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.957000	0.03861	-2.522000	0.00497	-1.737000	0.00689	CCG	LRIG1	-	NULL		0.627	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	G	NM_015541		66431162	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	0.003	T
MAGEB1	4112	genome.wustl.edu	37	X	30268663	30268663	+	Missense_Mutation	SNP	C	C	T	rs145867809		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chrX:30268663C>T	ENST00000378981.3	+	4	374	c.53C>T	c.(52-54)gCg>gTg	p.A18V	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A18V|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A18V	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	18										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGCCGCAAGGCGCGAGAGGAG	0.582																																																	0								C	VAL/ALA,VAL/ALA,VAL/ALA	2,3831		0,2,1629,571	42.0	33.0	36.0		53,53,53	1.0	0.0	X	dbSNP_134	36	0,6728		0,0,2428,1872	no	missense,missense,missense	MAGEB1	NM_002363.4,NM_177404.2,NM_177415.2	64,64,64	0,2,4057,2443	TT,TC,CC,C		0.0,0.0522,0.0189	possibly-damaging,possibly-damaging,possibly-damaging	18/348,18/348,18/348	30268663	2,10559	2202	4300	6502	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.53C>T	X.37:g.30268663C>T	ENSP00000368264:p.Ala18Val		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A18V	ENST00000378981.3	37	c.53	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882887	0.33255	5.22E-4	0.0	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.09723	2.95;2.95;2.95	3.99	1.03	0.20045	Melanoma associated antigen, MAGE, N-terminal (1);	0.912979	0.09201	N	0.834626	T	0.12220	0.0297	M	0.77820	2.39	0.09310	N	1	B	0.33807	0.426	B	0.31442	0.13	T	0.33675	-0.9859	10	0.48119	T	0.1	.	1.4961	0.02467	0.247:0.43:0.1958:0.1272	.	18	P43366	MAGB1_HUMAN	V	18	ENSP00000368264:A18V;ENSP00000380683:A18V;ENSP00000380681:A18V	ENSP00000368264:A18V	A	+	2	0	MAGEB1	30178584	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.086000	0.11233	0.073000	0.16731	-0.218000	0.12543	GCG	MAGEB1	-	pfam_Melanoma_ass_antigen_N		0.582	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	C	NM_002363		30268663	+1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.000	T
MBTPS1	8720	genome.wustl.edu	37	16	84101352	84101352	+	Silent	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:84101352G>A	ENST00000343411.3	-	16	2643	c.2148C>T	c.(2146-2148)aaC>aaT	p.N716N	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	716					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGAGAGGCCGTTGTCCACGT	0.478																																																	0													120.0	100.0	107.0					16																	84101352		2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2148C>T	16.37:g.84101352G>A			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.N716	ENST00000343411.3	37	c.2148	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.478	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	G	NM_003791		84101352	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.192	A
MEIS2	4212	genome.wustl.edu	37	15	37183275	37183275	+	3'UTR	SNP	T	T	C	rs79470888|rs397801962|rs34976538|rs200863215	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr15:37183275T>C	ENST00000561208.1	-	0	2951				MEIS2_ENST00000338564.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000382766.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2						eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ACTTAACACCTTTTTTTTTTT	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.*1099A>G	15.37:g.37183275T>C			A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	RNA	SNP	-	NULL	ENST00000561208.1	37	NULL	CCDS10044.1	15																																																																																			MEIS2	-	-		0.308	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	T	NM_170677		37183275	-1	no_errors	ENST00000560702	ensembl	human	known	70_37	rna	SNP	1.000	C
MIR146B	574447	genome.wustl.edu	37	10	104196339	104196339	+	RNA	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr10:104196339C>T	ENST00000365699.2	+	0	71					NR_030169.1				microRNA 146b																		TTCTGGTGCCCGGCAGTGCTA	0.577																																																	0													54.0	50.0	51.0					10																	104196339		1568	3581	5149			574447					10q24.32	2011-09-12		2008-12-18	ENSG00000202569	ENSG00000202569		"""ncRNAs / Micro RNAs"""	32079	non-coding RNA	RNA, micro		610567		MIRN146B			Standard	NR_030169		Approved	hsa-mir-146b	uc021pxj.1				10.37:g.104196339C>T				RNA	SNP	-	NULL	ENST00000365699.2	37	NULL		10																																																																																			MIR146B	-	-		0.577	MIR146B-201	KNOWN	basic	miRNA	MIR146B	HGNC	miRNA		C	NR_030169		104196339	+1	no_errors	ENST00000365699	ensembl	human	known	70_37	rna	SNP	0.997	T
MIR181A1	406995	genome.wustl.edu	37	1	198828217	198828218	+	RNA	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:198828217_198828218insA	ENST00000385026.1	-	0	64_65				MIR181B1_ENST00000385240.1_RNA	NR_029626.1				microRNA 181a-1																		AACGGTCGATGGTTTTGATTTT	0.426																																																	0																																												406995					1q32.1	2011-09-12	2006-05-16	2008-12-18	ENSG00000207759	ENSG00000207759		"""ncRNAs / Micro RNAs"""	31590	non-coding RNA	RNA, micro		612742	"""microRNA 213"""	MIRN213, MIRN181A1			Standard	NR_029626		Approved	hsa-mir-213	uc001guy.3				1.37:g.198828217_198828218insA				RNA	INS	-	NULL	ENST00000385026.1	37	NULL		1																																																																																			MIR181A1	-	-		0.426	MIR181A1-201	KNOWN	basic	miRNA	MIR181A1	HGNC	miRNA		-	NR_029626		198828218	-1	no_errors	ENST00000385026	ensembl	human	known	70_37	rna	INS	1.000:1.000	A
CKAP5	9793	genome.wustl.edu	37	11	46774719	46774720	+	Intron	INS	-	-	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:46774719_46774720insC	ENST00000529230.1	-	37	5104				MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Intron|CKAP5_ENST00000312055.5_Intron|CKAP5_ENST00000354558.3_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAACTGATGTAGCTATAACTT	0.351																																					Ovarian(4;85 273 2202 4844 13323)												0																																										SO:0001627	intron_variant	100847020				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5057+139->G	11.37:g.46774719_46774720insC			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	RNA	INS	-	NULL	ENST00000529230.1	37	NULL	CCDS31477.1	11																																																																																			MIR5582	-	-		0.351	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR5582	HGNC	protein_coding	OTTHUMT00000390679.1	-	NM_014756		46774720	-1	no_errors	ENST00000579697	ensembl	human	known	70_37	rna	INS	0.100:0.067	C
MURC	347273	genome.wustl.edu	37	9	103348259	103348259	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:103348259G>T	ENST00000307584.5	+	2	686	c.621G>T	c.(619-621)atG>atT	p.M207I		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	207					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAGAAAACATGCAGAAGACAC	0.433																																																	0													97.0	101.0	100.0					9																	103348259		2203	4300	6503	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.621G>T	9.37:g.103348259G>T	ENSP00000418668:p.Met207Ile		B1PRL3|B4DT88	Missense_Mutation	SNP	NULL	p.M207I	ENST00000307584.5	37	c.621	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488004	0.44249	.	.	ENSG00000170681	ENST00000307584	T	0.57907	0.37	5.09	5.09	0.68999	.	0.037722	0.85682	D	0.000000	T	0.47469	0.1447	L	0.46614	1.455	0.45087	D	0.998106	B	0.12013	0.005	B	0.12837	0.008	T	0.35871	-0.9771	10	0.30078	T	0.28	-38.3407	16.3216	0.82953	0.0:0.0:1.0:0.0	.	207	Q5BKX8	MURC_HUMAN	I	207	ENSP00000418668:M207I	ENSP00000418668:M207I	M	+	3	0	MURC	102388080	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.194000	0.42668	2.530000	0.85305	0.561000	0.74099	ATG	MURC	-	NULL		0.433	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	HGNC	protein_coding	OTTHUMT00000053419.2	G	NM_001018116		103348259	+1	no_errors	ENST00000307584	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128335752	128335752	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:128335752C>T	ENST00000409816.2	+	8	926	c.894C>T	c.(892-894)taC>taT	p.Y298Y	MYO7B_ENST00000389524.4_Silent_p.Y298Y|MYO7B_ENST00000428314.1_Silent_p.Y298Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	298	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAAGGACTACGCCCACATCC	0.627																																																	0													61.0	68.0	65.0					2																	128335752		2125	4222	6347	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.894C>T	2.37:g.128335752C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.Y298	ENST00000409816.2	37	c.894	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128335752	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.304	T
NBPF22P	285622	genome.wustl.edu	37	5	85589062	85589062	+	RNA	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:85589062C>T	ENST00000590707.1	+	0	1293					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		CCTCCCTTGTCCTGATACTGA	0.517																																																	0																																												285622			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85589062C>T				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-		0.517	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	C	XM_208333		85589062	+1	no_errors	ENST00000590707	ensembl	human	known	70_37	rna	SNP	0.003	T
NEDD4L	23327	genome.wustl.edu	37	18	55981815	55981815	+	Intron	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:55981815G>A	ENST00000400345.3	+	6	580				NEDD4L_ENST00000586263.1_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000456173.2_Intron|NEDD4L_ENST00000357895.5_Intron|NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Intron|NEDD4L_ENST00000431212.2_Intron|NEDD4L_ENST00000456986.1_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000435432.2_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCTGACTGCTGCTCTTGGTAA	0.488																																																	0																																										SO:0001627	intron_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.298-1399G>A	18.37:g.55981815G>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	RNA	SNP	-	NULL	ENST00000400345.3	37	NULL	CCDS45872.1	18																																																																																			NEDD4L	-	-		0.488	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	G			55981815	+1	no_errors	ENST00000592601	ensembl	human	known	70_37	rna	SNP	0.001	A
NFATC1	4772	genome.wustl.edu	37	18	77253552	77253552	+	Intron	SNP	G	G	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr18:77253552G>C	ENST00000427363.2	+	9	2782				NFATC1_ENST00000329101.4_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGAGCAGGTAGACGAGGCGGC	0.662																																					GBM(151;1210 2593 28719 45011)												0																																										SO:0001627	intron_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2782+6615G>C	18.37:g.77253552G>C			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	RNA	SNP	-	NULL	ENST00000427363.2	37	NULL		18																																																																																			NFATC1	-	-		0.662	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77253552	+1	no_errors	ENST00000590861	ensembl	human	putative	70_37	rna	SNP	0.988	C
NPL	80896	genome.wustl.edu	37	1	182791267	182791268	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:182791267_182791268insA	ENST00000367553.1	+	10	715_716	c.671_672insA	c.(670-675)ggaaaafs	p.GK224fs	NPL_ENST00000258317.2_Frame_Shift_Ins_p.GK224fs|NPL_ENST00000367552.2_Intron|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Frame_Shift_Ins_p.GK205fs|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	224					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTACCTGGGAAAAAAGACAA	0.396																																																	0																																										SO:0001589	frameshift_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.677dupA	1.37:g.182791273_182791273dupA	ENSP00000356524:p.Gly224fs		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Frame_Shift_Ins	INS	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.T227fs	ENST00000367553.1	37	c.671_672	CCDS1350.1	1																																																																																			NPL	-	pfam_Dihydrodipicolinate_synth-like		0.396	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	NM_030769		182791268	+1	no_errors	ENST00000258317	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	A
NPL	80896	genome.wustl.edu	37	1	182791267	182791268	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:182791267_182791268insA	ENST00000367553.1	+	10	715_716	c.671_672insA	c.(670-675)ggaaaafs	p.GK224fs	NPL_ENST00000258317.2_Frame_Shift_Ins_p.GK224fs|NPL_ENST00000367552.2_Intron|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Frame_Shift_Ins_p.GK205fs|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	224					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTACCTGGGAAAAAAGACAA	0.396																																																	0																																										SO:0001589	frameshift_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.677dupA	1.37:g.182791273_182791273dupA	ENSP00000356524:p.Gly224fs		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Frame_Shift_Ins	INS	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.T227fs	ENST00000367553.1	37	c.671_672	CCDS1350.1	1																																																																																			NPL	-	pfam_Dihydrodipicolinate_synth-like		0.396	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	NM_030769		182791268	+1	no_errors	ENST00000258317	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	A
OR5M3	219482	genome.wustl.edu	37	11	56237174	56237174	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:56237174T>C	ENST00000312240.2	-	1	840	c.800A>G	c.(799-801)gAg>gGg	p.E267G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTTCCCCTGCTCCACAGACTC	0.473																																																	0													16.0	17.0	17.0					11																	56237174		2175	4251	6426	SO:0001583	missense	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.800A>G	11.37:g.56237174T>C	ENSP00000312208:p.Glu267Gly		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E267G	ENST00000312240.2	37	c.800	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106145	0.37145	.	.	ENSG00000174937	ENST00000312240	T	0.00115	8.71	5.08	-0.309	0.12769	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000602	T	0.00210	0.0006	L	0.47016	1.485	0.09310	N	1	P	0.42973	0.796	P	0.52386	0.697	T	0.44128	-0.9348	10	0.51188	T	0.08	-12.8039	5.0497	0.14501	0.0:0.1667:0.291:0.5423	.	267	Q8NGP4	OR5M3_HUMAN	G	267	ENSP00000312208:E267G	ENSP00000312208:E267G	E	-	2	0	OR5M3	55993750	0.000000	0.05858	0.501000	0.27601	0.540000	0.34992	0.436000	0.21526	-0.019000	0.14055	-0.453000	0.05500	GAG	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	T	NM_001004742		56237174	-1	no_errors	ENST00000312240	ensembl	human	known	70_37	missense	SNP	0.017	C
OPCML	4978	genome.wustl.edu	37	11	132399032	132399032	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr11:132399032C>A	ENST00000331898.7	-	3	1027	c.449G>T	c.(448-450)gGa>gTa	p.G150V	OPCML_ENST00000541867.1_Missense_Mutation_p.G150V|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.G143V|OPCML_ENST00000374778.4_Missense_Mutation_p.G109V	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	150	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACACTGCTTCCCTCATTCAC	0.468																																																	0													127.0	96.0	106.0					11																	132399032		2201	4297	6498	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.449G>T	11.37:g.132399032C>A	ENSP00000330862:p.Gly150Val		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G150V	ENST00000331898.7	37	c.449	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739278	0.89573	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	H	0.99415	4.555	0.80722	D	1	P;P;P;P	0.52170	0.91;0.568;0.951;0.798	P;P;P;P	0.58454	0.615;0.71;0.839;0.615	D	0.96136	0.9096	10	0.87932	D	0	-15.1282	19.0661	0.93110	0.0:1.0:0.0:0.0	.	150;143;150;150	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	V	150;143;109;117;150	ENSP00000330862:G150V;ENSP00000434750:G143V;ENSP00000363910:G109V;ENSP00000445496:G150V	ENSP00000330862:G150V	G	-	2	0	OPCML	131904242	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.822000	0.75277	2.804000	0.96469	0.462000	0.41574	GGA	OPCML	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.468	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	C	NM_001012393		132399032	-1	no_errors	ENST00000541867	ensembl	human	known	70_37	missense	SNP	1.000	A
OR6N2	81442	genome.wustl.edu	37	1	158747044	158747044	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:158747044G>A	ENST00000339258.1	-	1	381	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGGAGGGGCCGACAAATGGCC	0.512																																																	0													90.0	92.0	91.0					1																	158747044		2203	4300	6503	SO:0001583	missense	81442			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.382C>T	1.37:g.158747044G>A	ENSP00000344101:p.Arg128Trp		Q6IFR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R128W	ENST00000339258.1	37	c.382	CCDS30906.1	1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859401	0.51376	.	.	ENSG00000188340	ENST00000339258	T	0.01347	4.99	5.17	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.232456	0.21694	N	0.070538	T	0.01092	0.0036	L	0.52126	1.63	0.20196	N	0.999922	D	0.67145	0.996	P	0.50791	0.65	T	0.52238	-0.8602	10	0.54805	T	0.06	-5.5658	9.2573	0.37590	0.0:0.1204:0.4793:0.4003	.	128	Q8NGY6	OR6N2_HUMAN	W	128	ENSP00000344101:R128W	ENSP00000344101:R128W	R	-	1	2	OR6N2	157013668	0.000000	0.05858	1.000000	0.80357	0.962000	0.63368	-0.750000	0.04808	0.689000	0.31550	0.650000	0.86243	CGG	OR6N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N2	HGNC	protein_coding	OTTHUMT00000059068.1	G			158747044	-1	no_errors	ENST00000339258	ensembl	human	known	70_37	missense	SNP	0.236	A
PAN3	255967	genome.wustl.edu	37	13	28710999	28711000	+	5'Flank	INS	-	-	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr13:28710999_28711000insA	ENST00000380958.3	+	0	0				PAN3-AS1_ENST00000563843.1_RNA|PAN3_ENST00000399613.1_5'Flank	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		gtaggcactttaatctgtttca	0.356																																																	0																																										SO:0001631	upstream_gene_variant	100288730			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645		13.37:g.28711001_28711001dupA	Exception_encountered			RNA	INS	-	NULL	ENST00000380958.3	37	NULL	CCDS9329.2	13																																																																																			PAN3-AS1	-	-		0.356	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3-AS1	HGNC	protein_coding	OTTHUMT00000044318.4	-	NM_175854		28711000	-1	no_errors	ENST00000563843	ensembl	human	known	70_37	rna	INS	0.005:0.039	A
PANX2	56666	genome.wustl.edu	37	22	50615969	50615969	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:50615969C>T	ENST00000395842.2	+	2	828	c.828C>T	c.(826-828)cgC>cgT	p.R276R	PANX2_ENST00000159647.5_Silent_p.R276R	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	276					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGCGGTGCGCGTGAGCTGCA	0.667																																																	0													44.0	34.0	37.0					22																	50615969		2190	4299	6489	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.828C>T	22.37:g.50615969C>T			B7Z684|Q96RD5|Q9UGX8	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.R276	ENST00000395842.2	37	c.828	CCDS14085.2	22																																																																																			PANX2	-	pfscan_Innexin		0.667	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	C	NM_052839		50615969	+1	no_errors	ENST00000395842	ensembl	human	known	70_37	silent	SNP	0.987	T
PCDH18	54510	genome.wustl.edu	37	4	138451499	138451499	+	Missense_Mutation	SNP	G	G	A	rs200901920	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:138451499G>A	ENST00000344876.4	-	1	2130	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582C|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362C|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTATTATTACGCAATGCAGGC	0.463													G|||	4	0.000798722	0.0	0.0	5008	,	,		22889	0.003		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	pancreas(1)											206.0	192.0	196.0					4																	138451499		2203	4300	6503	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1744C>T	4.37:g.138451499G>A	ENSP00000355082:p.Arg582Cys		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R582C	ENST00000344876.4	37	c.1744	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	8.234	0.805358	0.16467	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55930	0.58;0.59;0.49	5.93	4.15	0.48705	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.50446	0.1616	L	0.38175	1.15	0.80722	D	1	P;P;P	0.52463	0.926;0.953;0.941	B;P;B	0.47162	0.226;0.54;0.288	T	0.51687	-0.8674	10	0.56958	D	0.05	.	15.1749	0.72903	0.0:0.0:0.742:0.258	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	C	582;582;362	ENSP00000355082:R582C;ENSP00000390688:R582C;ENSP00000425903:R362C	ENSP00000355082:R582C	R	-	1	0	PCDH18	138670949	0.998000	0.40836	0.082000	0.20525	0.243000	0.25628	2.666000	0.46799	0.777000	0.33496	-0.309000	0.09137	CGT	PCDH18	-	superfamily_Cadherin-like,pfscan_Cadherin		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	G	NM_019035		138451499	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	missense	SNP	0.988	A
PCP4	5121	genome.wustl.edu	37	21	41255441	41255441	+	Intron	SNP	C	C	T	rs545017439		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr21:41255441C>T	ENST00000328619.5	+	2	194				PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4						central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ATCAGAGATCCAGGAAACTTC	0.388																																																	0																																										SO:0001627	intron_variant	5121			X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.10-14960C>T	21.37:g.41255441C>T			A6NDJ9|Q6ICS4|Q93059	RNA	SNP	-	NULL	ENST00000328619.5	37	NULL	CCDS33563.1	21																																																																																			PCP4	-	-		0.388	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCP4	HGNC	protein_coding	OTTHUMT00000195025.1	C	NM_006198		41255441	+1	no_errors	ENST00000468717	ensembl	human	known	70_37	rna	SNP	0.000	T
PDE3A	5139	genome.wustl.edu	37	12	20522788	20522788	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:20522788C>T	ENST00000359062.3	+	1	610	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	190					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACTCCCCGCCGCGGGGGTGG	0.697																																																	0													15.0	18.0	17.0					12																	20522788		2200	4292	6492	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.570C>T	12.37:g.20522788C>T			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A190	ENST00000359062.3	37	c.570	CCDS31754.1	12																																																																																			PDE3A	-	NULL		0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20522788	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	silent	SNP	1.000	T
PDE3A	5139	genome.wustl.edu	37	12	20522788	20522788	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:20522788C>T	ENST00000359062.3	+	1	610	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	190					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACTCCCCGCCGCGGGGGTGG	0.697																																																	0													15.0	18.0	17.0					12																	20522788		2200	4292	6492	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.570C>T	12.37:g.20522788C>T			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A190	ENST00000359062.3	37	c.570	CCDS31754.1	12																																																																																			PDE3A	-	NULL		0.697	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20522788	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	silent	SNP	1.000	T
PIP4K2C	79837	genome.wustl.edu	37	12	57985144	57985144	+	Silent	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:57985144C>T	ENST00000354947.5	+	1	88	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PIP4K2C_ENST00000550465.1_Silent_p.F24F|PIP4K2C_ENST00000540759.2_Silent_p.F24F|PIP4K2C_ENST00000422156.3_Silent_p.F24F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	24						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTTTCGGCTTCGCCTCCAAGA	0.652																																																	0													75.0	82.0	79.0					12																	57985144		2203	4300	6503	SO:0001819	synonymous_variant	79837			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.72C>T	12.37:g.57985144C>T			B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.F24	ENST00000354947.5	37	c.72	CCDS8946.1	12																																																																																			PIP4K2C	-	NULL		0.652	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2C	HGNC	protein_coding	OTTHUMT00000407644.1	C	NM_024779		57985144	+1	no_errors	ENST00000354947	ensembl	human	known	70_37	silent	SNP	1.000	T
PPP1R17	10842	genome.wustl.edu	37	7	31746967	31746967	+	3'UTR	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:31746967G>A	ENST00000342032.3	+	0	1166				PPP1R17_ENST00000409146.3_3'UTR|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17						central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AGAAAAAATAGACTTGTTTCT	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.*70G>A	7.37:g.31746967G>A			B4DE58|Q9UDQ0	RNA	SNP	-	NULL	ENST00000342032.3	37	NULL	CCDS5436.1	7																																																																																			PPP1R17	-	-		0.418	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	G	NM_006658		31746967	+1	no_errors	ENST00000498609	ensembl	human	known	70_37	rna	SNP	0.998	A
PRRT4	401399	genome.wustl.edu	37	7	127990931	127990931	+	Silent	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:127990931G>T	ENST00000446477.2	-	6	2992	c.2679C>A	c.(2677-2679)ggC>ggA	p.G893G	PRRT4_ENST00000435512.1_Silent_p.G687G|PRRT4_ENST00000535159.1_Silent_p.G893G|PRRT4_ENST00000489835.2_3'UTR	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	893						integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						TGGTGTCGCTGCCCACGCTCA	0.632																																																	0													9.0	10.0	10.0					7																	127990931		692	1587	2279	SO:0001819	synonymous_variant	401399			BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.2679C>A	7.37:g.127990931G>T			A4D0Z9|C9JVW7	Silent	SNP	NULL	p.G893	ENST00000446477.2	37	c.2679	CCDS55160.1	7																																																																																			PRRT4	-	NULL		0.632	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT4	HGNC	protein_coding		G	NM_001114726		127990931	-1	no_errors	ENST00000446477	ensembl	human	known	70_37	silent	SNP	1.000	T
RANBP10	57610	genome.wustl.edu	37	16	67763658	67763658	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:67763658A>T	ENST00000317506.3	-	9	1187	c.1072T>A	c.(1072-1074)Tcc>Acc	p.S358T	RANBP10_ENST00000602677.1_Missense_Mutation_p.S358T|RANBP10_ENST00000448631.2_Missense_Mutation_p.S302T|RANBP10_ENST00000411657.2_Missense_Mutation_p.S241T|RANBP10_ENST00000536251.1_Missense_Mutation_p.S129T	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	358	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTGTCCTGGGACTTGGGGCTT	0.607																																																	0													82.0	82.0	82.0					16																	67763658		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1072T>A	16.37:g.67763658A>T	ENSP00000316589:p.Ser358Thr		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S358T	ENST00000317506.3	37	c.1072	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584593	0.86748	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.58810	1.83	0.80722	D	1	D;D;D	0.63046	0.979;0.992;0.974	D;D;P	0.76071	0.982;0.987;0.88	T	0.77900	-0.2415	9	0.62326	D	0.03	-2.7014	15.6287	0.76885	1.0:0.0:0.0:0.0	.	241;302;358	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	T	358;302;129;241	.	ENSP00000316589:S358T	S	-	1	0	RANBP10	66321159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.181000	0.69327	0.460000	0.39030	TCC	RANBP10	-	NULL		0.607	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	A	NM_020850		67763658	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM26	64062	genome.wustl.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																																	0																																										SO:0001589	frameshift_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q727fs	ENST00000438737.2	37	c.2182_2181		13																																																																																			RBM26	-	NULL		0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	-	NM_022118		79918807	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
RBM6	10180	genome.wustl.edu	37	3	50006066	50006066	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:50006066G>T	ENST00000266022.4	+	3	1467	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.S271I|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	403					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATTACAGAAGCATGGAGTAC	0.517																																																	0													83.0	87.0	86.0					3																	50006066		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1208G>T	3.37:g.50006066G>T	ENSP00000266022:p.Ser403Ile		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.S403I	ENST00000266022.4	37	c.1208	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931216	0.34096	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32272	1.46;1.47	5.84	3.82	0.43975	.	0.171610	0.50627	D	0.000101	T	0.14356	0.0347	N	0.14661	0.345	0.80722	D	1	P	0.37955	0.612	B	0.30855	0.121	T	0.08911	-1.0699	9	.	.	.	-9.4014	9.5737	0.39445	0.2458:0.0:0.7542:0.0	.	403	P78332	RBM6_HUMAN	I	403;271	ENSP00000266022:S403I;ENSP00000396466:S271I	.	S	+	2	0	RBM6	49981070	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.023000	0.30065	1.483000	0.48342	0.484000	0.47621	AGC	RBM6	-	NULL		0.517	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50006066	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS6	6194	genome.wustl.edu	37	9	19376658	19376658	+	Intron	SNP	T	T	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr9:19376658T>G	ENST00000380394.4	-	5	555				RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Intron|RPS6_ENST00000315377.4_Intron	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6						activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		ACCTAAAAATTCAAAGGACTC	0.383																																																	0													46.0	49.0	48.0					9																	19376658		2203	4300	6503	SO:0001627	intron_variant	6194				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.497-9A>C	9.37:g.19376658T>G			P08227|P10660|Q4VBY7|Q8N6Z7	RNA	SNP	-	NULL	ENST00000380394.4	37	NULL	CCDS6492.1	9																																																																																			RPS6	-	-		0.383	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	HGNC	protein_coding	OTTHUMT00000051858.1	T	NM_001010		19376658	-1	no_errors	ENST00000498815	ensembl	human	known	70_37	rna	SNP	0.000	G
RYR2	6262	genome.wustl.edu	37	1	237957284	237957284	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:237957284G>A	ENST00000366574.2	+	95	14217	c.13900G>A	c.(13900-13902)Gta>Ata	p.V4634I	RYR2_ENST00000360064.6_Missense_Mutation_p.V4640I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4618I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4634					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4632I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATAGACTCGTAATCAACAC	0.363																																																	1	Substitution - Missense(1)	endometrium(1)											69.0	67.0	68.0					1																	237957284		1821	4081	5902	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13900G>A	1.37:g.237957284G>A	ENSP00000355533:p.Val4634Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V4640I	ENST00000366574.2	37	c.13918	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409099	0.83340	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.97924	-4.61;-4.59;-4.61	5.69	4.78	0.61160	.	0.100234	0.38164	U	0.001797	D	0.98043	0.9355	M	0.77103	2.36	0.53005	D	0.99996	D;B	0.54047	0.964;0.014	P;B	0.55345	0.774;0.003	D	0.98237	1.0486	10	0.56958	D	0.05	.	14.9449	0.71023	0.0685:0.0:0.9315:0.0	.	67;4634	F5H3C7;Q92736	.;RYR2_HUMAN	I	4634;4640;4618;67	ENSP00000355533:V4634I;ENSP00000353174:V4640I;ENSP00000443798:V4618I	ENSP00000353174:V4640I	V	+	1	0	RYR2	236023907	1.000000	0.71417	0.855000	0.33649	0.912000	0.54170	9.813000	0.99286	1.548000	0.49413	0.655000	0.94253	GTA	RYR2	-	NULL		0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237957284	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
SDHAP1	255812	genome.wustl.edu	37	3	195711042	195711042	+	RNA	SNP	C	C	G	rs56383352		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:195711042C>G	ENST00000427841.1	-	0	690					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGCAGCACCCATGGGCCTGC	0.557																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711042C>G				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.557	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	C			195711042	-1	no_errors	ENST00000413474	ensembl	human	known	70_37	rna	SNP	0.998	G
SFRP4	6424	genome.wustl.edu	37	7	37956057	37956057	+	Missense_Mutation	SNP	C	C	T	rs555863176		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:37956057C>T	ENST00000436072.2	-	1	460	c.83G>A	c.(82-84)cGc>cAc	p.R28H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	28	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CATAGGGATGCGCACCGCCTC	0.677																																																	0													90.0	74.0	79.0					7																	37956057		2203	4300	6503	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.83G>A	7.37:g.37956057C>T	ENSP00000410715:p.Arg28His		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.R28H	ENST00000436072.2	37	c.83	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.347043	0.95807	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.77877	-1.13	4.62	4.62	0.57501	Frizzled domain (5);	0.110378	0.64402	D	0.000005	D	0.85366	0.5680	M	0.64260	1.97	0.54753	D	0.999987	D	0.76494	0.999	D	0.64687	0.928	D	0.87130	0.2196	10	0.72032	D	0.01	.	16.3894	0.83528	0.0:1.0:0.0:0.0	.	28	Q6FHJ7	SFRP4_HUMAN	H	28;50	ENSP00000410715:R28H	ENSP00000410715:R28H	R	-	2	0	SFRP4	37922582	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.768000	0.55295	2.376000	0.81061	0.557000	0.71058	CGC	SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.677	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	C	NM_003014		37956057	-1	no_errors	ENST00000436072	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC8A1	6546	genome.wustl.edu	37	2	40405622	40405622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:40405622G>T	ENST00000403092.1	-	3	1853	c.1820C>A	c.(1819-1821)tCa>tAa	p.S607*	SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.S607*|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.S607*|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.S607*|SLC8A1_ENST00000406391.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	607	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCTTGACTGATATTGTTTT	0.433																																																	0													182.0	182.0	182.0					2																	40405622		2203	4300	6503	SO:0001587	stop_gained	6546				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1820C>A	2.37:g.40405622G>T	ENSP00000384763:p.Ser607*		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S607*	ENST00000403092.1	37	c.1820	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.182343	0.98118	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	.	.	.	5.48	5.48	0.80851	.	0.142200	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.8608	0.86018	0.0:0.0:1.0:0.0	.	.	.	.	X	607	.	ENSP00000332931:S607X	S	-	2	0	SLC8A1	40259126	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.712000	0.54875	2.563000	0.86464	0.591000	0.81541	TCA	SLC8A1	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	G	NM_021097		40405622	-1	no_errors	ENST00000332839	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC9C1	285335	genome.wustl.edu	37	3	111983170	111983170	+	Missense_Mutation	SNP	C	C	T	rs201401597		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:111983170C>T	ENST00000305815.5	-	9	1151	c.899G>A	c.(898-900)cGt>cAt	p.R300H	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	300					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAAGCAATACGTGATAGAAA	0.249																																																	0													35.0	36.0	36.0					3																	111983170		2174	4249	6423	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.899G>A	3.37:g.111983170C>T	ENSP00000306627:p.Arg300His		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R300H	ENST00000305815.5	37	c.899	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739541	0.49045	.	.	ENSG00000172139	ENST00000305815	T	0.06142	3.34	6.11	4.96	0.65561	Cation/H+ exchanger (1);	0.178127	0.40908	D	0.000991	T	0.04952	0.0133	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.48795	0.59	T	0.57124	-0.7865	10	0.20046	T	0.44	-9.969	10.423	0.44361	0.8322:0.1678:0.0:0.0	.	300	Q4G0N8	S9A10_HUMAN	H	300	ENSP00000306627:R300H	ENSP00000306627:R300H	R	-	2	0	SLC9A10	113465860	1.000000	0.71417	0.971000	0.41717	0.481000	0.33189	3.163000	0.50763	1.126000	0.42016	-0.347000	0.07816	CGT	SLC9C1	-	pfam_Cation/H_exchanger		0.249	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	C	NM_183061		111983170	-1	no_errors	ENST00000305815	ensembl	human	known	70_37	missense	SNP	0.972	T
SMAD5	4090	genome.wustl.edu	37	5	135515156	135515157	+	3'UTR	INS	-	-	AA	rs35464260|rs397711934|rs527330649|rs397759033	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr5:135515156_135515157insAA	ENST00000514641.2	+	0	3747_3748				SMAD5_ENST00000545279.1_3'UTR|SMAD5_ENST00000545620.1_3'UTR			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTGTGAAGAAAAAAAAAAG	0.322																																																	0																																										SO:0001624	3_prime_UTR_variant	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.*3745->AA	5.37:g.135515165_135515166dupAA			O14688|Q15798|Q9UQA1	RNA	INS	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			SMAD5	-	-		0.322	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5	HGNC	protein_coding	OTTHUMT00000372096.2	-	NM_005903		135515157	+1	no_errors	ENST00000514641	ensembl	human	known	70_37	rna	INS	0.001:0.000	AA
SPEN	23013	genome.wustl.edu	37	1	16255855	16255855	+	Silent	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:16255855G>A	ENST00000375759.3	+	11	3324	c.3120G>A	c.(3118-3120)gtG>gtA	p.V1040V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1040					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGCCTGTGAGGAAAGAAA	0.453																																																	0													45.0	51.0	49.0					1																	16255855		2202	4300	6502	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3120G>A	1.37:g.16255855G>A			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V1040	ENST00000375759.3	37	c.3120	CCDS164.1	1																																																																																			SPEN	-	NULL		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16255855	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.014	A
SRRM4	84530	genome.wustl.edu	37	12	119592176	119592176	+	Missense_Mutation	SNP	G	G	A	rs267603332		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr12:119592176G>A	ENST00000267260.4	+	12	1908	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	507	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGGAGGCCCGGAGGATAACC	0.652																																																	0													15.0	19.0	17.0					12																	119592176		1862	4082	5944	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1520G>A	12.37:g.119592176G>A	ENSP00000267260:p.Arg507Gln		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.R507Q	ENST00000267260.4	37	c.1520	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.349892	0.97494	.	.	ENSG00000139767	ENST00000267260	T	0.67865	-0.29	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.79902	0.4526	L	0.59436	1.845	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.78329	-0.2246	9	.	.	.	-12.374	19.0484	0.93032	0.0:0.0:1.0:0.0	.	507	A7MD48	SRRM4_HUMAN	Q	507	ENSP00000267260:R507Q	.	R	+	2	0	SRRM4	118076559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.222000	0.95196	2.505000	0.84491	0.655000	0.94253	CGG	SRRM4	-	NULL		0.652	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	G	NM_194286		119592176	+1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	1.000	A
SULT1E1	6783	genome.wustl.edu	37	4	70715163	70715163	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr4:70715163T>G	ENST00000226444.3	-	5	600	c.488A>C	c.(487-489)cAa>cCa	p.Q163P		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	163					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ACCCTGTCCTTGCATGAATTT	0.373																																																	0													66.0	71.0	69.0					4																	70715163		2203	4300	6503	SO:0001583	missense	6783			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.488A>C	4.37:g.70715163T>G	ENSP00000226444:p.Gln163Pro		Q8N6X5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.Q163P	ENST00000226444.3	37	c.488	CCDS3531.1	4	.	.	.	.	.	.	.	.	.	.	T	9.298	1.052449	0.19907	.	.	ENSG00000109193	ENST00000226444	T	0.01767	4.65	3.85	3.85	0.44370	Sulfotransferase domain (1);	1.101880	0.06937	N	0.812061	T	0.05135	0.0137	M	0.68952	2.095	0.31292	N	0.689304	B;B	0.22480	0.07;0.07	B;B	0.36378	0.223;0.223	T	0.12243	-1.0555	10	0.44086	T	0.13	.	11.287	0.49228	0.0:0.0:0.0:1.0	.	163;163	Q53X91;P49888	.;ST1E1_HUMAN	P	163	ENSP00000226444:Q163P	ENSP00000226444:Q163P	Q	-	2	0	SULT1E1	70749752	0.012000	0.17670	0.967000	0.41034	0.267000	0.26476	1.231000	0.32624	1.986000	0.57962	0.528000	0.53228	CAA	SULT1E1	-	pfam_Sulfotransferase_dom		0.373	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	T	NM_005420		70715163	-1	no_errors	ENST00000226444	ensembl	human	known	70_37	missense	SNP	0.978	G
SYNE1	23345	genome.wustl.edu	37	6	152716766	152716766	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr6:152716766C>T	ENST00000367255.5	-	51	8198	c.7597G>A	c.(7597-7599)Gaa>Aaa	p.E2533K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2572K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2533K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2540K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2540K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2533					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCATTTCATGGATCCAT	0.338										HNSCC(10;0.0054)																																							0													131.0	121.0	125.0					6																	152716766		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7597G>A	6.37:g.152716766C>T	ENSP00000356224:p.Glu2533Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2533K	ENST00000367255.5	37	c.7597	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734582	0.48939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.56	5.56	0.83823	.	0.094278	0.46145	D	0.000304	T	0.25680	0.0625	L	0.51422	1.61	0.80722	D	1	P;P;P;B	0.52463	0.953;0.594;0.594;0.452	B;B;B;B	0.43194	0.411;0.114;0.114;0.164	T	0.13361	-1.0512	10	0.07175	T	0.84	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2516;2533;2533;2540	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2533;2540;2533;2540;2572	ENSP00000356224:E2533K;ENSP00000396024:E2540K;ENSP00000265368:E2533K;ENSP00000390975:E2540K;ENSP00000341887:E2572K	ENSP00000265368:E2533K	E	-	1	0	SYNE1	152758459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.648000	0.46647	2.598000	0.87819	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152716766	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
THEM6	51337	genome.wustl.edu	37	8	143816856	143816856	+	Silent	SNP	G	G	A	rs144075334		TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr8:143816856G>A	ENST00000336138.3	+	2	770	c.626G>A	c.(625-627)tGa>tAa	p.*209*		NM_016647.2	NP_057731.1	Q8WUY1	THEM6_HUMAN	thioesterase superfamily member 6	0						extracellular region (GO:0005576)											AAGGACCAGTGACCGCCACCT	0.632																																																	0								G		1,4385		0,1,2192	55.0	39.0	44.0		626	2.1	1.0	8	dbSNP_134	44	0,8570		0,0,4285	no	coding-synonymous	C8orf55	NM_016647.2		0,1,6477	AA,AG,GG		0.0,0.0228,0.0077		209/209	143816856	1,12955	2193	4285	6478	SO:0001819	synonymous_variant	51337			BC001311	CCDS6386.1	8q24.3	2012-05-03	2012-04-13	2012-04-13	ENSG00000130193	ENSG00000130193			29656	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 55"""	C8orf55		12477932	Standard	XM_005250955		Approved	DSCD75	uc003yww.1	Q8WUY1	OTTHUMG00000164673	ENST00000336138.3:c.626G>A	8.37:g.143816856G>A			B2RDN6|Q8NBN2|Q9NYI2	Silent	SNP	NULL	p.*209	ENST00000336138.3	37	c.626	CCDS6386.1	8																																																																																			THEM6	-	NULL		0.632	THEM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM6	HGNC	protein_coding	OTTHUMT00000379706.1	G	NM_016647		143816856	+1	no_errors	ENST00000336138	ensembl	human	known	70_37	silent	SNP	0.992	A
TOM1	10043	genome.wustl.edu	37	22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:35726358C>G	ENST00000449058.2	+	8	909	c.784C>G	c.(784-786)Cga>Gga	p.R262G	TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G|TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000382034.5_Missense_Mutation_p.R195G	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	262	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537																																																	0													126.0	105.0	112.0					22																	35726358		2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.784C>G	22.37:g.35726358C>G	ENSP00000394466:p.Arg262Gly		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R262G	ENST00000449058.2	37	c.784	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	c	21.0	4.083250	0.76642	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.31	4.23	0.50019	GAT (2);	0.103239	0.64402	D	0.000007	T	0.68723	0.3032	M	0.82630	2.6	0.52099	D	0.999944	P;D;D;D;P	0.62365	0.946;0.966;0.991;0.958;0.941	P;P;D;P;P	0.68943	0.671;0.758;0.961;0.551;0.581	T	0.73773	-0.3877	10	0.87932	D	0	-2.2088	13.7111	0.62670	0.2254:0.7746:0.0:0.0	.	217;224;271;262;262	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	G	229;256;262;262;217;271;224;195	ENSP00000398876:R229G;ENSP00000393714:R256G;ENSP00000394466:R262G;ENSP00000413697:R262G;ENSP00000394924:R217G;ENSP00000402556:R224G;ENSP00000371465:R195G	ENSP00000371465:R195G	R	+	1	2	TOM1	34056358	0.998000	0.40836	0.998000	0.56505	0.999000	0.98932	1.951000	0.40333	2.644000	0.89710	0.645000	0.84053	CGA	TOM1	-	pfam_GAT,pirsf_TOM1,pfscan_GAT		0.537	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35726358	+1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.988	G
TP73-AS1	57212	genome.wustl.edu	37	1	3656076	3656076	+	RNA	SNP	T	T	C			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:3656076T>C	ENST00000452079.1	-	0	2829				TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000419973.1_RNA|TP73-AS1_ENST00000608600.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											ACCCAGCTGATGACCTCTATC	0.483																																																	0																																												57212					1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3656076T>C				RNA	SNP	-	NULL	ENST00000452079.1	37	NULL		1																																																																																			TP73-AS1	-	-		0.483	TP73-AS1-003	KNOWN	basic	antisense	TP73-AS1	HGNC	antisense	OTTHUMT00000009558.1	T	NR_033708		3656076	-1	no_errors	ENST00000452079	ensembl	human	known	70_37	rna	SNP	0.001	C
TPSG1	25823	genome.wustl.edu	37	16	1277336	1277336	+	5'Flank	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr16:1277336G>A	ENST00000234798.4	-	0	0				TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA	NM_012467.3	NP_036599	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1							integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				AACAGGAGCCGAGGGATGGGC	0.602																																																	0																																										SO:0001631	upstream_gene_variant	64499			AF175759	CCDS10430.1	16p13.3	2011-08-31			ENSG00000116176	ENSG00000116176		"""Serine peptidases / Serine peptidases"""	14134	protein-coding gene	gene with protein product	"""tryptase gamma II"", ""tryptase gamma I"""	609341				10521469	Standard	NM_012467		Approved	TMT, PRSS31	uc002ckw.2	Q9NRR2	OTTHUMG00000090466		16.37:g.1277336G>A	Exception_encountered		Q96RZ8|Q9C015|Q9NRQ8|Q9UBB2	RNA	SNP	-	NULL	ENST00000234798.4	37	NULL	CCDS10430.1	16																																																																																			TPSB2	-	-		0.602	TPSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSB2	HGNC	protein_coding	OTTHUMT00000206913.2	G			1277336	-1	no_errors	ENST00000339687	ensembl	human	known	70_37	rna	SNP	0.001	A
TRIM16	10626	genome.wustl.edu	37	17	15534963	15534963	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:15534963C>G	ENST00000578237.1	-	10	1936	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	TRIM16_ENST00000577886.1_Missense_Mutation_p.E145Q|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.E361Q|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.E231Q|TRIM16_ENST00000336708.7_Missense_Mutation_p.E361Q			O95361	TRI16_HUMAN	tripartite motif containing 16	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTGCTGGGCTCAGGTTTGGAA	0.478																																																	0													119.0	99.0	106.0					17																	15534963		2203	4300	6503	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1081G>C	17.37:g.15534963C>G	ENSP00000463188:p.Glu361Gln		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.E361Q	ENST00000578237.1	37	c.1081	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978128	0.34942	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69926	-0.17;-0.44	4.61	3.64	0.41730	B30.2/SPRY domain (1);	0.120515	0.53938	D	0.000045	T	0.72898	0.3518	M	0.62088	1.915	0.29257	N	0.871604	D;D;D	0.65815	0.965;0.995;0.987	P;P;P	0.56343	0.631;0.796;0.755	T	0.70468	-0.4863	10	0.72032	D	0.01	.	10.8474	0.46751	0.0:0.9059:0.0:0.0941	.	231;361;375	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	Q	361;231	ENSP00000338989:E361Q;ENSP00000399918:E231Q	ENSP00000338989:E361Q	E	-	1	0	TRIM16	15475688	0.957000	0.32711	0.908000	0.35775	0.948000	0.59901	2.638000	0.46562	1.063000	0.40649	0.555000	0.69702	GAG	TRIM16	-	pfscan_B30.2/SPRY		0.478	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	C	NM_006470		15534963	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.989	G
UPB1	51733	genome.wustl.edu	37	22	24923769	24923769	+	IGR	SNP	T	T	A	rs140340|rs543509716|rs543122017|rs555139671	byFrequency	TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr22:24923769T>A	ENST00000326010.5	+	0	2290				UPB1_ENST00000498140.1_3'UTR	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTTGCACCtttaaaaaaaaaa	0.443																																																	0																																										SO:0001628	intergenic_variant	51733			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749		22.37:g.24923769T>A			A3KMF8|Q9UIR3	RNA	SNP	-	NULL	ENST00000326010.5	37	NULL	CCDS13827.1	22																																																																																			UPB1	-	-		0.443	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPB1	HGNC	protein_coding	OTTHUMT00000319869.1	T			24923769	+1	no_errors	ENST00000498140	ensembl	human	known	70_37	rna	SNP	0.000	A
XIRP2	129446	genome.wustl.edu	37	2	168115174	168115174	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr2:168115174G>T	ENST00000409728.1	+	11	2306	c.2217G>T	c.(2215-2217)aaG>aaT	p.K739N	XIRP2_ENST00000409605.1_Missense_Mutation_p.K484N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.K739N|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K706N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K706N|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGAATAAGAATAATAATA	0.303																																																	0													27.0	27.0	27.0					2																	168115174		1804	4054	5858	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2217G>T	2.37:g.168115174G>T	ENSP00000386619:p.Lys739Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K739N	ENST00000409728.1	37	c.2217	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524969	0.27299	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78364	-1.16;-1.17;-1.16;-1.17;-1.16	5.61	2.73	0.32206	.	.	.	.	.	T	0.58424	0.2121	.	.	.	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.20184	0.028;0.028	T	0.37526	-0.9702	8	0.16420	T	0.52	.	3.5723	0.07922	0.0756:0.2482:0.3466:0.3296	.	706;739	A4UGR9-4;A4UGR9-6	.;.	N	706;739;706;739;484	ENSP00000386454:K706N;ENSP00000386619:K739N;ENSP00000386724:K706N;ENSP00000415541:K739N;ENSP00000386981:K484N	ENSP00000386454:K706N	K	+	3	2	XIRP2	167823420	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.794000	0.38774	0.276000	0.22118	0.511000	0.50034	AAG	XIRP2	-	NULL		0.303	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168115174	+1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.990	T
ZBTB4	57659	genome.wustl.edu	37	17	7365772	7365772	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr17:7365772C>A	ENST00000311403.4	-	4	2868	c.2529G>T	c.(2527-2529)gaG>gaT	p.E843D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E843D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	843					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GTGAGGCGGTCTCGGAAGCTT	0.617																																																	0													30.0	30.0	30.0					17																	7365772		2203	4300	6503	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2529G>T	17.37:g.7365772C>A	ENSP00000307858:p.Glu843Asp		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E843D	ENST00000311403.4	37	c.2529	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825798	0.32237	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.05319	3.46;3.46	5.56	-0.454	0.12197	.	0.259857	0.30969	N	0.008510	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.38643	T	0.18	-4.34	5.4965	0.16805	0.0:0.5043:0.2494:0.2463	.	843	Q9P1Z0	ZBTB4_HUMAN	D	843	ENSP00000307858:E843D;ENSP00000369973:E843D	ENSP00000307858:E843D	E	-	3	2	ZBTB4	7306496	0.000000	0.05858	0.002000	0.10522	0.965000	0.64279	0.003000	0.13083	-0.015000	0.14150	0.655000	0.94253	GAG	ZBTB4	-	NULL		0.617	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7365772	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.002	A
ZNF684	127396	genome.wustl.edu	37	1	41010164	41010164	+	Intron	SNP	C	C	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:41010164C>A	ENST00000372699.3	+	5	489				ZNF684_ENST00000493756.1_Intron|ZNF684_ENST00000372696.3_3'UTR|ZNF684_ENST00000372697.3_Missense_Mutation_p.Q112K	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			gctggaactacaggcgcccgc	0.542																																																	0																																										SO:0001627	intron_variant	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.239-2070C>A	1.37:g.41010164C>A			Q2NKY4	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.Q112K	ENST00000372699.3	37	c.334	CCDS454.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.113024	0.00353	.	.	ENSG00000117010	ENST00000372697	T	0.00711	5.8	0.149	0.149	0.14863	.	.	.	.	.	T	0.01092	0.0036	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49163	-0.8968	5	0.66056	D	0.02	.	.	.	.	.	.	.	.	K	112	ENSP00000361782:Q112K	ENSP00000361782:Q112K	Q	+	1	0	ZNF684	40782751	0.002000	0.14202	0.064000	0.19789	0.065000	0.16274	-0.635000	0.05471	0.192000	0.20272	0.195000	0.17529	CAG	ZNF684	-	NULL		0.542	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	C	NM_152373		41010164	+1	no_errors	ENST00000372697	ensembl	human	known	70_37	missense	SNP	0.073	A
ZNF717	100131827	genome.wustl.edu	37	3	75759465	75759465	+	5'UTR	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr3:75759465C>T	ENST00000491507.1	-	0	1669				RN7SL92P_ENST00000580591.1_RNA			Q9BY31	ZN717_HUMAN	zinc finger protein 717						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						catggcctgtcttcttctttt	0.333																																																	0																																										SO:0001623	5_prime_UTR_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000491507.1:c.-672G>A	3.37:g.75759465C>T				RNA	SNP	-	NULL	ENST00000491507.1	37	NULL		3																																																																																			ZNF717	-	-		0.333	ZNF717-004	KNOWN	basic	processed_transcript	ZNF717	HGNC	protein_coding	OTTHUMT00000352766.1	C	NM_001128223		75759465	-1	no_errors	ENST00000491507	ensembl	human	known	70_37	rna	SNP	0.051	T
ZNF775	285971	genome.wustl.edu	37	7	150095001	150095001	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr7:150095001G>A	ENST00000329630.5	+	3	1539	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGTGCCCCGAGTGCGGCCG	0.697																																																	0													10.0	14.0	13.0					7																	150095001		2169	4254	6423	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1432G>A	7.37:g.150095001G>A	ENSP00000330838:p.Glu478Lys		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E478K	ENST00000329630.5	37	c.1432	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982795	0.53827	.	.	ENSG00000196456	ENST00000329630	T	0.16597	2.33	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.17872	0.535	0.09310	N	1	D	0.58970	0.984	P	0.51999	0.687	T	0.08186	-1.0734	8	.	.	.	.	9.1656	0.37050	0.0:0.0:0.783:0.217	.	478	Q96BV0	ZN775_HUMAN	K	478	ENSP00000330838:E478K	.	E	+	1	0	ZNF775	149725934	0.002000	0.14202	0.953000	0.39169	0.997000	0.91878	1.060000	0.30530	2.116000	0.64780	0.563000	0.77884	GAG	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	G	NM_173680		150095001	+1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.002	A
ZSWIM5	57643	genome.wustl.edu	37	1	45484400	45484400	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R9-01A-11D-A18J-09	TCGA-EK-A2R9-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	81d5dd18-5488-4e1a-b8c8-3f1d08495ebd	8a08173e-ca6f-4dc1-8ee7-aee63ef61d7c	g.chr1:45484400C>T	ENST00000359600.5	-	14	3489	c.3284G>A	c.(3283-3285)cGa>cAa	p.R1095Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1095						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGCTTCGGCGGCCTGG	0.562											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119.0	111.0	114.0					1																	45484400		2061	4198	6259	SO:0001583	missense	57643			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3284G>A	1.37:g.45484400C>T	ENSP00000352614:p.Arg1095Gln	932	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.R1095Q	ENST00000359600.5	37	c.3284	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359484	0.82353	.	.	ENSG00000162415	ENST00000359600	T	0.48201	0.82	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.74258	2.255	0.80722	D	1	D	0.55605	0.972	P	0.46237	0.508	T	0.64706	-0.6344	10	0.56958	D	0.05	-15.3351	18.8379	0.92169	0.0:1.0:0.0:0.0	.	1095	Q9P217	ZSWM5_HUMAN	Q	1095	ENSP00000352614:R1095Q	ENSP00000352614:R1095Q	R	-	2	0	ZSWIM5	45256987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.705000	0.68355	2.610000	0.88304	0.561000	0.74099	CGA	ZSWIM5	-	NULL		0.562	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	C	XM_046581		45484400	-1	no_errors	ENST00000359600	ensembl	human	known	70_37	missense	SNP	1.000	T
