#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_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_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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								8539	SO:0001628	intergenic_variant	4514																															Unknown.37:g.0T>C			8539		Missense_Mutation	SNP	HMMPfam_ATP-synt_8	p.I58T		37	c.173		MT																																																																																			-	NULL	0	0					MT-CO3			T			8539	+1	no_errors	ENST00000361851	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								12614	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0G>A			12614		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.A93T		37	c.277		MT																																																																																			-	HMMPfam_Oxidored_q1_N	0	0					MT-ND5			G			12614	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	A
MXRA5	25878	genome.wustl.edu	37	X	3235591	3235591	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chrX:3235591G>A	ENST00000217939.6	-	6	6285	c.6131C>T	c.(6130-6132)gCa>gTa	p.A2044V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2044						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGGCAGTGCCGCCACGTG	0.647																																																0			X											26.0	22.0	23.0					X																	3235591		2200	4298	6498	3245591	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6131C>T	X.37:g.3235591G>A	ENSP00000217939:p.Ala2044Val		3245591	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set	p.A2044V	ENST00000217939.6	37	c.6131	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	15.14	2.745735	0.49151	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.77750	-1.12	3.63	3.63	0.41609	Immunoglobulin-like fold (1);	0.000000	0.36628	U	0.002484	T	0.76884	0.4050	L	0.43152	1.355	0.09310	N	1	P	0.48503	0.911	P	0.49226	0.603	T	0.70949	-0.4733	10	0.52906	T	0.07	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2044	Q9NR99	MXRA5_HUMAN	V	2044	ENSP00000217939:A2044V	ENSP00000217939:A2044V	A	-	2	0	MXRA5	3245591	0.997000	0.39634	0.076000	0.20297	0.802000	0.45316	4.002000	0.57053	1.440000	0.47531	0.597000	0.82753	GCA	-	superfamily_Immunoglobulin		0.647	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3245591	-1	no_errors	NM_015419	genbank	human	validated	54_36p	missense	SNP	0.930	A
PPL	5493	genome.wustl.edu	37	16	4935526	4935526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:4935526C>A	ENST00000345988.2	-	22	3219	c.3130G>T	c.(3130-3132)Gag>Tag	p.E1044*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E1042*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1044					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGGCTCTTCTCTTCAGCCAGG	0.652																																																0			16											33.0	37.0	36.0					16																	4935526		2197	4299	6496	4875527	SO:0001587	stop_gained	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3130G>T	16.37:g.4935526C>A	ENSP00000340510:p.Glu1044*		4875527	O60314|O60454|Q14C98	Nonsense_Mutation	SNP	HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin	p.E1044*	ENST00000345988.2	37	c.3130	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.206787	0.97376	.	.	ENSG00000118898	ENST00000345988	.	.	.	4.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.415	0.55488	0.0:0.9138:0.0:0.0862	.	.	.	.	X	1044	.	ENSP00000340510:E1044X	E	-	1	0	PPL	4875527	1.000000	0.71417	0.744000	0.31058	0.041000	0.13682	6.037000	0.70956	1.010000	0.39314	-0.378000	0.06908	GAG	-	NULL		0.652	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4875527	-1	no_errors	NM_002705	genbank	human	reviewed	54_36p	nonsense	SNP	0.977	A
OR2AG1	144125	genome.wustl.edu	37	11	6806497	6806497	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:6806497G>A	ENST00000307401.4	+	1	250	c.229G>A	c.(229-231)Gtc>Atc	p.V77I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACATCTGTTGTCACTCCCAA	0.567																																																0			11											156.0	142.0	147.0					11																	6806497		2201	4294	6495	6763073	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.229G>A	11.37:g.6806497G>A	ENSP00000307447:p.Val77Ile		6763073	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.V77I	ENST00000307401.4	37	c.229	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	G	0.611	-0.824866	0.02755	.	.	ENSG00000170803	ENST00000307401	T	0.01406	4.93	4.03	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000487	T	0.00784	0.0026	N	0.04090	-0.28	0.09310	N	1	B	0.16802	0.019	B	0.17979	0.02	T	0.48906	-0.8993	10	0.09338	T	0.73	.	8.9137	0.35568	0.1149:0.0:0.8851:0.0	.	77	Q9H205	O2AG1_HUMAN	I	77	ENSP00000307447:V77I	ENSP00000307447:V77I	V	+	1	0	OR2AG1	6763073	0.000000	0.05858	0.991000	0.47740	0.964000	0.63967	0.759000	0.26461	1.028000	0.39785	0.591000	0.81541	GTC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.567	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	G	NM_001004489		6763073	+1	no_errors	NM_001004489	genbank	human	provisional	54_36p	missense	SNP	0.000	A
CHD3	1107	genome.wustl.edu	37	17	7796604	7796604	+	Splice_Site	SNP	G	G	T	rs367543897		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:7796604G>T	ENST00000330494.7	+	5	660	c.510G>T	c.(508-510)agG>agT	p.R170S	CHD3_ENST00000358181.4_Splice_Site_p.R170S|CHD3_ENST00000380358.4_Splice_Site_p.R229S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	170					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATATTTACAGGCCCCTAATTG	0.453																																																0			17											45.0	42.0	43.0					17																	7796604		2203	4300	6503	7737329	SO:0001630	splice_region_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.510-1G>T	17.37:g.7796604G>T			7737329	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.R215S	ENST00000330494.7	37	c.645	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.126074|3.126074	0.56721|0.56721	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;D;D	.|0.95272	.|2.3;-3.66;-3.66	4.65|4.65	4.65|4.65	0.58169|0.58169	.|High mobility group, HMG1/HMG2 (1);CHD, N-terminal (1);	.|0.000000	.|0.51477	.|D	.|0.000083	D|D	0.97269|0.97269	0.9107|0.9107	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.64830	.|0.989;0.991;0.994	.|D;D;D	.|0.76071	.|0.978;0.987;0.985	D|D	0.97489|0.97489	1.0052|1.0052	5|9	.|.	.|.	.|.	.|.	17.7258|17.7258	0.88365|0.88365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|170;170;229	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	S|S	45|229;170;170	.|ENSP00000369716:R229S;ENSP00000350907:R170S;ENSP00000332628:R170S	.|.	A|R	+|+	1|3	0|2	CHD3|CHD3	7737329|7737329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.439000|7.439000	0.80444|0.80444	2.411000|2.411000	0.81874|0.81874	0.561000|0.561000	0.74099|0.74099	GCC|AGG	-	HMMPfam_CHDNT		0.453	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	G	NM_001005273	Missense_Mutation	7737329	+1	no_errors	NM_001005271	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LRP6	4040	genome.wustl.edu	37	12	12303811	12303811	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:12303811G>C	ENST00000261349.4	-	13	3029	c.2953C>G	c.(2953-2955)Cga>Gga	p.R985G	LRP6_ENST00000543091.1_Missense_Mutation_p.R985G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	985	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATGTTTTGTCGTGAGTCAATC	0.478																																																0			12											244.0	218.0	227.0					12																	12303811		2203	4300	6503	12195078	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2953C>G	12.37:g.12303811G>C	ENSP00000261349:p.Arg985Gly		12195078	Q17RZ2	Missense_Mutation	SNP	superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1	p.R985G	ENST00000261349.4	37	c.2953	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778689	0.70107	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90620	-2.7;-2.7	5.73	3.86	0.44501	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	D	0.000105	T	0.79885	0.4523	N	0.12637	0.245	0.58432	D	0.999997	P;P	0.37731	0.465;0.607	B;B	0.35770	0.11;0.21	T	0.78450	-0.2199	10	0.38643	T	0.18	.	9.5614	0.39371	0.067:0.0:0.683:0.25	.	985;985	F5H7J9;O75581	.;LRP6_HUMAN	G	985	ENSP00000261349:R985G;ENSP00000442472:R985G	ENSP00000261349:R985G	R	-	1	2	LRP6	12195078	0.706000	0.27856	0.996000	0.52242	0.985000	0.73830	0.996000	0.29719	1.396000	0.46663	-0.302000	0.09304	CGA	-	superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b		0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	protein_coding	OTTHUMT00000400137.1	G			12195078	-1	no_errors	NM_002336	genbank	human	validated	54_36p	missense	SNP	0.998	C
NBEAP3	100418905	genome.wustl.edu	37	22	16123309	16123309	+	IGR	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr22:16123309C>T								LA16c-4G1.3 (60073 upstream) : AP000525.9 (24669 downstream)																							GGAACCCAGACGTCCTCGTGG	0.622																																																0			22																																								14503309	SO:0001628	intergenic_variant	729057																															22.37:g.16123309C>T			14503309		RNA	SNP	-	NULL		37	NULL		22																																																																																			-	-	0	0.622					LOC729057			C			14503309	+1	no_errors	XR_042044	genbank	human	model	54_36p	rna	SNP	0.995	T
LRRC48	83450	genome.wustl.edu	37	17	17891293	17891293	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:17891293G>A	ENST00000399187.1	+	5	543	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	LRRC48_ENST00000584166.1_Missense_Mutation_p.V109M|LRRC48_ENST00000411504.2_Missense_Mutation_p.V109M|LRRC48_ENST00000313838.8_Missense_Mutation_p.V109M|LRRC48_ENST00000399182.1_Missense_Mutation_p.V109M	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	109						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGACACACTGGTGAACCTGGA	0.577																																																0			17											82.0	83.0	83.0					17																	17891293		2020	4175	6195	17832018	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.325G>A	17.37:g.17891293G>A	ENSP00000382140:p.Val109Met		17832018	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1	p.V109M	ENST00000399187.1	37	c.325	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753677	0.69648	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.11	3.06	0.35304	.	0.549115	0.19416	N	0.114816	T	0.59238	0.2179	L	0.49513	1.565	0.80722	D	1	D;D	0.61697	0.99;0.99	D;P	0.65684	0.937;0.861	T	0.56968	-0.7891	10	0.45353	T	0.12	-40.2023	5.9031	0.18978	0.1608:0.0:0.6843:0.1549	.	109;109	Q9H069;Q9H069-2	LRC48_HUMAN;.	M	109	ENSP00000326870:V109M;ENSP00000394020:V109M;ENSP00000382140:V109M;ENSP00000382136:V109M	ENSP00000326870:V109M	V	+	1	0	LRRC48	17832018	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.531000	0.45650	1.119000	0.41883	0.655000	0.94253	GTG	-	superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365		0.577	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17832018	+1	no_errors	NM_031294	genbank	human	validated	54_36p	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21258548	21258548	+	Silent	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:21258548G>A	ENST00000233242.1	-	7	853	c.726C>T	c.(724-726)agC>agT	p.S242S	APOB_ENST00000399256.4_Silent_p.S242S	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	242	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGGACTGGCTGCTGCTGA	0.488																																																0			2											98.0	84.0	89.0					2																	21258548		2203	4300	6503	21112053	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.726C>T	2.37:g.21258548G>A			21112053	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081	p.S242	ENST00000233242.1	37	c.726	CCDS1703.1	2																																																																																			-	superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G			21112053	-1	no_errors	NM_000384	genbank	human	reviewed	54_36p	silent	SNP	0.998	A
LUZP1	7798	genome.wustl.edu	37	1	23419339	23419339	+	Silent	SNP	T	T	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:23419339T>G	ENST00000302291.4	-	4	2217	c.1416A>C	c.(1414-1416)tcA>tcC	p.S472S	LUZP1_ENST00000374623.3_Silent_p.S472S|LUZP1_ENST00000418342.1_Silent_p.S472S|LUZP1_ENST00000314174.5_Silent_p.S472S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	472					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GACTCAGCACTGAGGGCTGCT	0.577																																																0			1											126.0	131.0	130.0					1																	23419339		2203	4300	6503	23291926	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1416A>C	1.37:g.23419339T>G			23291926	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	HMMPfam_CortBP2	p.S472	ENST00000302291.4	37	c.1416	CCDS30628.1	1																																																																																			-	NULL		0.577	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	T	NM_033631		23291926	-1	no_errors	NM_033631	genbank	human	reviewed	54_36p	silent	SNP	0.283	G
DSG4	147409	genome.wustl.edu	37	18	28993448	28993448	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr18:28993448C>A	ENST00000308128.4	+	16	3148	c.3013C>A	c.(3013-3015)Caa>Aaa	p.Q1005K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.Q1024K	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1005					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAGTGATGCAAATGATGAG	0.478																																																0			18											112.0	112.0	112.0					18																	28993448		2203	4300	6503	27247446	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.3013C>A	18.37:g.28993448C>A	ENSP00000311859:p.Gln1005Lys		27247446	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1	p.Q1005K	ENST00000308128.4	37	c.3013	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	C	5.553	0.286852	0.10513	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59083	0.36;0.29	5.32	5.32	0.75619	.	.	.	.	.	T	0.50343	0.1610	L	0.54323	1.7	0.36887	D	0.889684	B;B	0.29988	0.264;0.049	B;B	0.27170	0.077;0.016	T	0.54523	-0.8281	9	0.02654	T	1	.	18.5974	0.91234	0.0:1.0:0.0:0.0	.	1024;1005	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	K	1005;1024	ENSP00000311859:Q1005K;ENSP00000352785:Q1024K	ENSP00000311859:Q1005K	Q	+	1	0	DSG4	27247446	0.982000	0.34865	0.871000	0.34182	0.081000	0.17604	3.134000	0.50538	2.487000	0.83934	0.591000	0.81541	CAA	-	NULL		0.478	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	protein_coding	OTTHUMT00000254941.1	C	NM_177986		27247446	+1	no_errors	NM_177986	genbank	human	validated	54_36p	missense	SNP	0.999	A
RP11-85G18.6	0	genome.wustl.edu	37	10	27534898	27534898	+	lincRNA	SNP	C	C	G	rs559379754		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:27534898C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTGCTTCCTCCGCCGGCTGCC	0.507																																																0			10																																								27574904			387646																															10.37:g.27534898C>G			27574904		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			-	-		0.507	RP11-85G18.6-001	KNOWN	basic	lincRNA	LOC387646	lincRNA	OTTHUMT00000436904.1	C			27574904	-1	pseudogene	NR_003525	genbank	human	provisional	54_36p	rna	SNP	0.000	G
EPB41	2035	genome.wustl.edu	37	1	29391646	29391646	+	Missense_Mutation	SNP	T	T	A	rs141501852		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:29391646T>A	ENST00000343067.4	+	16	2287	c.2160T>A	c.(2158-2160)aaT>aaA	p.N720K	EPB41_ENST00000373798.1_Missense_Mutation_p.N720K|EPB41_ENST00000373797.1_Missense_Mutation_p.N706K|EPB41_ENST00000373800.3_Missense_Mutation_p.N478K|EPB41_ENST00000398863.2_Missense_Mutation_p.N666K|EPB41_ENST00000356093.2_Missense_Mutation_p.N687K|EPB41_ENST00000347529.3_Missense_Mutation_p.N631K|EPB41_ENST00000349460.4_Missense_Mutation_p.N497K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	720	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTAACATCAATGGGCAAATCC	0.413																																																0			1											92.0	83.0	86.0					1																	29391646		2203	4300	6503	29264233	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2160T>A	1.37:g.29391646T>A	ENSP00000345259:p.Asn720Lys		29264233	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD	p.N631K	ENST00000343067.4	37	c.1893	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678853	0.68042	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;T;D;D	0.84589	-1.76;-1.76;-1.78;-1.74;-1.73;-1.47;-1.76;-1.87	5.99	2.43	0.29744	.	0.336904	0.32593	N	0.005886	D	0.87446	0.6179	L	0.54323	1.7	0.58432	D	0.999999	B;D;P;D;D;D;D;D;P	0.89917	0.112;0.977;0.892;0.999;1.0;0.996;1.0;0.997;0.93	B;P;P;D;D;P;D;D;P	0.91635	0.05;0.876;0.621;0.977;0.999;0.893;0.986;0.991;0.548	T	0.81924	-0.0710	10	0.16896	T	0.51	.	8.7332	0.34512	0.0:0.3123:0.0:0.6877	.	560;666;720;687;706;683;631;478;497	E9PEX0;E9PEW9;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	K	683;720;687;666;560;706;497;478;631;720;706	ENSP00000345259:N720K;ENSP00000348397:N687K;ENSP00000381839:N666K;ENSP00000317597:N497K;ENSP00000362906:N478K;ENSP00000290100:N631K;ENSP00000362904:N720K;ENSP00000362903:N706K	ENSP00000345259:N720K	N	+	3	2	EPB41	29264233	0.990000	0.36364	1.000000	0.80357	0.967000	0.64934	0.219000	0.17641	0.169000	0.19679	-0.290000	0.09829	AAT	-	NULL		0.413	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	protein_coding	OTTHUMT00000010312.1	T	NM_203342		29264233	+1	no_errors	NM_203343	genbank	human	validated	54_36p	missense	SNP	1.000	A
CHN2	1124	genome.wustl.edu	37	7	29546972	29546972	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr7:29546972G>C	ENST00000222792.6	+	11	1650	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	CHN2_ENST00000539389.1_Missense_Mutation_p.D230H|CHN2_ENST00000546235.1_Missense_Mutation_p.D359H|CHN2_ENST00000495789.2_Missense_Mutation_p.D387H|CHN2_ENST00000421775.2_Missense_Mutation_p.D180H|CHN2_ENST00000439711.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.D193H|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.D449H|CHN2_ENST00000409041.4_Missense_Mutation_p.D238H|CHN2_ENST00000410098.1_3'UTR	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	374	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAAATTTATAGATGCAGCAAG	0.318																																					Ovarian(1;44 48 13232 18918 31480)											0			7											82.0	76.0	78.0					7																	29546972		2202	4300	6502	29513497	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1120G>C	7.37:g.29546972G>C	ENSP00000222792:p.Asp374His		29513497	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.D374H	ENST00000222792.6	37	c.1120	CCDS5420.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.54|18.54	3.646331|3.646331	0.67358|0.67358	.|.	.|.	ENSG00000106069|ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000421775|ENST00000433720	T;T;T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.234704|.	0.50627|.	D|.	0.000107|.	T|.	0.62780|.	0.2456|.	L|L	0.41079|0.41079	1.255|1.255	0.36700|0.36700	D|D	0.880071|0.880071	B;B;B;P;P;B;P;B;P;B|.	0.42123|.	0.286;0.281;0.295;0.547;0.756;0.281;0.771;0.14;0.635;0.14|.	B;B;B;B;P;B;P;B;P;B|.	0.50049|.	0.315;0.315;0.283;0.346;0.629;0.264;0.512;0.21;0.629;0.21|.	T|.	0.62882|.	-0.6760|.	10|.	0.56958|.	D|.	0.05|.	.|.	19.1752|19.1752	0.93601|0.93601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;359;387;449;193;180;230;374;238;374|.	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757|.	.;.;.;.;.;.;.;.;.;CHIO_HUMAN|.	H|Y	449;374;387;230;359;238;193;180|52	ENSP00000444063:D449H;ENSP00000222792:D374H;ENSP00000438587:D387H;ENSP00000440526:D230H;ENSP00000442812:D359H;ENSP00000386849:D238H;ENSP00000406337:D193H;ENSP00000394284:D180H|.	ENSP00000222792:D374H|.	D|X	+|+	1|3	0|2	CHN2|CHN2	29513497|29513497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.222000|6.222000	0.72249|0.72249	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAT|TAG	-	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP		0.318	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	protein_coding	OTTHUMT00000214228.2	G	NM_004067		29513497	+1	no_errors	NM_004067	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MORC2	22880	genome.wustl.edu	37	22	31346425	31346425	+	Missense_Mutation	SNP	C	C	T	rs574524678	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr22:31346425C>T	ENST00000397641.3	-	4	572	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	MORC2_ENST00000215862.4_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	55						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAGGTCCTCTCGTCTTTCTGT	0.488													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17791	0.0		0.0	False		,,,				2504	0.001															0			22											72.0	63.0	66.0					22																	31346425		2203	4300	6503	29676425	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.164G>A	22.37:g.31346425C>T	ENSP00000380763:p.Arg55Gln		29676425	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_zf-CW	p.R55Q	ENST00000397641.3	37	c.164		22	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360756	0.61403	.	.	ENSG00000133422	ENST00000397641	D	0.94687	-3.49	5.65	4.62	0.57501	.	0.138649	0.46758	U	0.000271	D	0.95185	0.8439	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93857	0.7150	7	0.35671	T	0.21	.	14.6567	0.68838	0.0:0.928:0.0:0.072	.	.	.	.	Q	55	ENSP00000380763:R55Q	ENSP00000380763:R55Q	R	-	2	0	MORC2	29676425	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.022000	0.41030	2.670000	0.90874	0.650000	0.86243	CGA	-	superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c		0.488	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	C	NM_014941		29676425	-1	no_errors	ENST00000397641	ensembl	human	known	54_36p	missense	SNP	0.994	T
HECTD1	25831	genome.wustl.edu	37	14	31604773	31604773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr14:31604773G>A	ENST00000399332.1	-	21	3651	c.3163C>T	c.(3163-3165)Cga>Tga	p.R1055*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.R1055*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1055					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTAATTTTCGAACAAAAACA	0.323																																																0			14											86.0	81.0	83.0					14																	31604773		1825	4075	5900	30674524	SO:0001587	stop_gained	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3163C>T	14.37:g.31604773G>A	ENSP00000382269:p.Arg1055*		30674524	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Nonsense_Mutation	SNP	superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.R1055*	ENST00000399332.1	37	c.3163	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.817611	0.96982	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.	.	.	5.47	4.57	0.56435	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.3044	15.812	0.78571	0.0:0.0:0.8627:0.1373	.	.	.	.	X	1055;1057;1055;529	.	ENSP00000261312:R1057X	R	-	1	2	HECTD1	30674524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.029000	0.57253	1.408000	0.46895	0.655000	0.94253	CGA	-	NULL		0.323	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	G			30674524	-1	no_errors	NM_015382	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
LCLAT1	253558	genome.wustl.edu	37	2	30863473	30863473	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:30863473G>C	ENST00000309052.4	+	7	1442	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	LCLAT1_ENST00000379509.3_Missense_Mutation_p.K373N|LCLAT1_ENST00000540623.1_Missense_Mutation_p.K373N|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	411					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TAAATTCAAAGAAAAATGAGT	0.343																																																0			2											56.0	58.0	57.0					2																	30863473		2185	4294	6479	30716977	SO:0001583	missense	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1233G>C	2.37:g.30863473G>C	ENSP00000310551:p.Lys411Asn		30716977	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMPfam_Acyltransferase,HMMSmart_SM00563	p.K411N	ENST00000309052.4	37	c.1233	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234686	0.09969	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.34859	1.44;1.34;1.44	6.03	2.31	0.28768	.	0.559273	0.20629	N	0.088629	T	0.20901	0.0503	N	0.24115	0.695	0.29553	N	0.851244	B	0.32245	0.361	B	0.29942	0.109	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.5975	5.5046	0.16846	0.3402:0.0:0.5362:0.1236	.	411	Q6UWP7	LCLT1_HUMAN	N	373;411;373	ENSP00000368823:K373N;ENSP00000310551:K411N;ENSP00000442857:K373N	ENSP00000310551:K411N	K	+	3	2	LCLAT1	30716977	0.811000	0.29063	0.524000	0.27887	0.006000	0.05464	0.994000	0.29693	0.158000	0.19367	-0.262000	0.10625	AAG	-	NULL		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	protein_coding	OTTHUMT00000216780.1	G	NM_182551		30716977	+1	no_errors	NM_182551	genbank	human	validated	54_36p	missense	SNP	0.863	C
DCDC1	341019	genome.wustl.edu	37	11	31115606	31115606	+	Silent	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:31115606C>T	ENST00000597505.1	-	14	2108	c.2109G>A	c.(2107-2109)ctG>ctA	p.L703L	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTGGTGATCAGCCACACAC	0.547																																																0			11											119.0	123.0	122.0					11																	31115606		2164	4268	6432	31072182	SO:0001819	synonymous_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2109G>A	11.37:g.31115606C>T			31072182	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	superfamily_RicinB_like	p.L322	ENST00000597505.1	37	c.966		11																																																																																			-	superfamily_RicinB_like		0.547	DCDC1-010	PUTATIVE	basic	protein_coding	uc001msu.1	protein_coding	OTTHUMT00000463167.1	C	NM_181807		31072182	-1	no_errors	ENST00000342355	ensembl	human	known	54_36p	silent	SNP	1.000	T
RECK	8434	genome.wustl.edu	37	9	36112346	36112346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr9:36112346C>T	ENST00000377966.3	+	16	2499	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	645	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGTATGTGGGCAGAATGGGCG	0.493																																																0			9											144.0	113.0	124.0					9																	36112346		2203	4300	6503	36102346	SO:0001587	stop_gained	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1933C>T	9.37:g.36112346C>T	ENSP00000367202:p.Gln645*		36102346	B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL	p.Q645*	ENST00000377966.3	37	c.1933	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	C	43	10.016653	0.99318	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.71	5.71	0.89125	.	0.238825	0.37577	N	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-10.2614	17.3431	0.87303	0.0:1.0:0.0:0.0	.	.	.	.	X	645	.	ENSP00000367202:Q645X	Q	+	1	0	RECK	36102346	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.410000	0.44592	2.701000	0.92244	0.563000	0.77884	CAG	-	superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL		0.493	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	protein_coding	OTTHUMT00000052409.1	C			36102346	+1	no_errors	NM_021111	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
TRANK1	9881	genome.wustl.edu	37	3	36876382	36876382	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr3:36876382T>A	ENST00000429976.2	-	20	5649	c.5402A>T	c.(5401-5403)tAt>tTt	p.Y1801F	TRANK1_ENST00000428977.2_Missense_Mutation_p.Y1251F|TRANK1_ENST00000301807.6_Missense_Mutation_p.Y1251F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1801							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTATAGAAATAGGCAGCATC	0.358																																																0			3											72.0	69.0	70.0					3																	36876382		1844	4080	5924	36851386	SO:0001583	missense	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5402A>T	3.37:g.36876382T>A	ENSP00000416168:p.Tyr1801Phe		36851386	Q8N8K0	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y1251F	ENST00000429976.2	37	c.3752	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245525	0.39697	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32023	1.47;1.88;1.47	5.85	2.02	0.26589	Tetratricopeptide-like helical (1);	0.302208	0.24454	N	0.038397	T	0.16854	0.0405	N	0.19112	0.55	0.28194	N	0.927636	B	0.15930	0.015	B	0.12837	0.008	T	0.19128	-1.0315	10	0.24483	T	0.36	.	7.928	0.29887	0.351:0.0:0.1114:0.5376	.	1801	O15050	TRNK1_HUMAN	F	1251;1801;1251	ENSP00000416826:Y1251F;ENSP00000416168:Y1801F;ENSP00000301807:Y1251F	ENSP00000301807:Y1251F	Y	-	2	0	TRANK1	36851386	0.965000	0.33210	0.997000	0.53966	0.951000	0.60555	0.516000	0.22817	0.166000	0.19597	-0.333000	0.08304	TAT	-	NULL		0.358	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LBA1	protein_coding		T	NM_014831		36851386	-1	no_errors	NM_014831	genbank	human	validated	54_36p	missense	SNP	1.000	A
ADAM9	8754	genome.wustl.edu	37	8	38961128	38961128	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:38961128C>T	ENST00000487273.2	+	22	2447	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	790	Poly-Pro.			Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCTCGCAGGCCACCTCCACCA	0.423																																																0			8											138.0	133.0	135.0					8																	38961128		2203	4300	6503	39080285	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2369C>T	8.37:g.38961128C>T	ENSP00000419446:p.Pro790Leu		39080285	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2"	p.P790L	ENST00000487273.2	37	c.2369	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150034	0.78001	.	.	ENSG00000168615	ENST00000487273	T	0.03889	3.77	5.76	5.76	0.90799	.	0.118078	0.64402	D	0.000019	T	0.16514	0.0397	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00037	-1.2250	10	0.72032	D	0.01	.	15.4858	0.75564	0.0:1.0:0.0:0.0	.	790	Q13443	ADAM9_HUMAN	L	790	ENSP00000419446:P790L	ENSP00000419446:P790L	P	+	2	0	ADAM9	39080285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.781000	0.55394	2.706000	0.92434	0.655000	0.94253	CCA	-	NULL		0.423	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	protein_coding	OTTHUMT00000357291.2	C			39080285	+1	no_errors	NM_003816	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ITGA2B	3674	genome.wustl.edu	37	17	42454390	42454390	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:42454390G>T	ENST00000262407.5	-	22	2285	c.2254C>A	c.(2254-2256)Ctg>Atg	p.L752M	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L752M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	752			L -> V (in GT). {ECO:0000269|PubMed:12083483}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CGTATCTGCAGCTGGAAGGAC	0.612																																																0			17	GRCh37	CM021111	ITGA2B	M							77.0	58.0	64.0					17																	42454390		2202	4299	6501	39809916	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2254C>A	17.37:g.42454390G>T	ENSP00000262407:p.Leu752Met		39809916	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.L752M	ENST00000262407.5	37	c.2254	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890835	0.52014	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.57107	0.42;0.42	4.9	3.94	0.45596	Integrin alpha-2 (1);	0.000000	0.28583	N	0.014829	T	0.62539	0.2436	M	0.72894	2.215	0.80722	D	1	D;D	0.58970	0.983;0.984	P;P	0.62560	0.904;0.899	T	0.60747	-0.7202	10	0.31617	T	0.26	.	6.1601	0.20360	0.094:0.0:0.7219:0.1841	.	350;752	Q59FA8;P08514	.;ITA2B_HUMAN	M	752	ENSP00000262407:L752M;ENSP00000340536:L752M	ENSP00000262407:L752M	L	-	1	2	ITGA2B	39809916	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.790000	0.38734	1.299000	0.44798	0.561000	0.74099	CTG	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	protein_coding	OTTHUMT00000439823.1	G			39809916	-1	no_errors	NM_000419	genbank	human	reviewed	54_36p	missense	SNP	0.958	T
ZNF790	388536	genome.wustl.edu	37	19	37309643	37309643	+	Missense_Mutation	SNP	C	C	T	rs199662090		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr19:37309643C>T	ENST00000356725.4	-	5	1723	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	535					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATACGTAAGGTTCC	0.403																																																0			19						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	115.0	112.0	113.0		1603,1603,1603,1603	-1.6	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	535/637,535/637,535/637,535/637	37309643	1,13005	2203	4300	6503	42001483	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1603G>A	19.37:g.37309643C>T	ENSP00000349161:p.Val535Ile		42001483		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.V535I	ENST00000356725.4	37	c.1603	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296278	0.40594	0.0	1.16E-4	ENSG00000197863	ENST00000356725	T	0.18810	2.19	3.32	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13798	0.0334	L	0.42632	1.34	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34254	-0.9836	9	0.54805	T	0.06	.	1.154	0.01792	0.149:0.3085:0.1467:0.3957	.	535	Q6PG37	ZN790_HUMAN	I	535	ENSP00000349161:V535I	ENSP00000349161:V535I	V	-	1	0	ZNF790	42001483	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-4.050000	0.00305	-0.313000	0.08728	-0.332000	0.08345	GTA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355		0.403	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	C	NM_206894		42001483	-1	no_errors	NM_206894	genbank	human	validated	54_36p	missense	SNP	0.000	T
NCOA3	8202	genome.wustl.edu	37	20	46265284	46265284	+	Silent	SNP	C	C	T	rs371484815		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr20:46265284C>T	ENST00000371998.3	+	12	2345	c.2154C>T	c.(2152-2154)gaC>gaT	p.D718D	NCOA3_ENST00000371997.3_Silent_p.D728D|NCOA3_ENST00000341724.6_Silent_p.D728D|NCOA3_ENST00000372004.3_Silent_p.D718D			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	718					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTTGTGGGGACGGAAATGTTG	0.473																																																0			20						C	,,,	0,4406		0,0,2203	85.0	78.0	80.0		2154,2184,2154,2154	-10.1	0.0	20		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	718/1424,728/1416,718/1421,718/1425	46265284	1,13005	2203	4300	6503	45698691	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2154C>T	20.37:g.46265284C>T			45698691	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518	p.D718	ENST00000371998.3	37	c.2154	CCDS13407.1	20																																																																																			-	NULL		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	protein_coding	OTTHUMT00000080405.1	C	NM_006534		45698691	+1	no_errors	NM_181659	genbank	human	reviewed	54_36p	silent	SNP	0.254	T
C10orf71	118461	genome.wustl.edu	37	10	50531003	50531003	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:50531003A>G	ENST00000374144.3	+	3	701	c.413A>G	c.(412-414)aAg>aGg	p.K138R	C10orf71_ENST00000323868.4_Missense_Mutation_p.K138R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	138										endometrium(1)	1						AGCAGCAATAAGCCTGTCTCC	0.542																																																0			10											69.0	81.0	77.0					10																	50531003		1996	4168	6164	50201009	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.413A>G	10.37:g.50531003A>G	ENSP00000363259:p.Lys138Arg		50201009	A0AVL8	Missense_Mutation	SNP	NULL	p.K138R	ENST00000374144.3	37	c.413	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483000	0.44147	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.38077	1.16;2.26	5.12	5.12	0.69794	.	0.000000	0.52532	D	0.000075	T	0.57519	0.2059	M	0.66939	2.045	0.29397	N	0.862175	D	0.89917	1.0	D	0.83275	0.996	T	0.57207	-0.7851	10	0.38643	T	0.18	.	14.9189	0.70818	1.0:0.0:0.0:0.0	.	138	Q711Q0-3	.	R	138	ENSP00000318713:K138R;ENSP00000363259:K138R	ENSP00000318713:K138R	K	+	2	0	C10orf71	50201009	1.000000	0.71417	0.883000	0.34634	0.120000	0.20174	4.660000	0.61511	1.936000	0.56123	0.379000	0.24179	AAG	-	NULL		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	A	NM_199459		50201009	+1	no_errors	NM_199459	genbank	human	validated	54_36p	missense	SNP	0.768	G
ATP8B1	5205	genome.wustl.edu	37	18	55338804	55338804	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr18:55338804G>C	ENST00000283684.4	-	16	1827	c.1828C>G	c.(1828-1830)Cca>Gca	p.P610A	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.P610A|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	610					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTGCCTTCTGGGGTTCTTACT	0.373																																																0			18											140.0	123.0	129.0					18																	55338804		2203	4300	6503	53489802	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1828C>G	18.37:g.55338804G>C	ENSP00000283684:p.Pro610Ala		53489802	Q9BTP8	Missense_Mutation	SNP	superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660	p.P610A	ENST00000283684.4	37	c.1828	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150085	0.57151	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70282	-0.47;-0.47	6.02	6.02	0.97574	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.052054	0.85682	D	0.000000	T	0.74207	0.3686	M	0.83603	2.65	0.80722	D	1	B	0.21606	0.058	B	0.22152	0.038	T	0.72577	-0.4251	10	0.72032	D	0.01	.	14.6737	0.68964	0.0707:0.0:0.9293:0.0	.	610	O43520	AT8B1_HUMAN	A	610	ENSP00000283684:P610A;ENSP00000445359:P610A	ENSP00000283684:P610A	P	-	1	0	ATP8B1	53489802	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.136000	0.58004	2.865000	0.98341	0.655000	0.94253	CCA	-	superfamily_SSF81665,superfamily_SSF56784,superfamily_SSF81660		0.373	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	protein_coding	OTTHUMT00000256097.1	G	NM_005603		53489802	-1	no_errors	NM_005603	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
OR4S2	219431	genome.wustl.edu	37	11	55418514	55418514	+	Silent	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:55418514G>T	ENST00000312422.2	+	1	135	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCATCATGCTGACAGTTTGCC	0.413																																																0			11											207.0	166.0	181.0					11																	55418514		2181	4039	6220	55175090	SO:0001819	synonymous_variant	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.135G>T	11.37:g.55418514G>T			55175090	Q6IF72	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L45	ENST00000312422.2	37	c.135	CCDS31505.1	11																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.413	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	protein_coding	OTTHUMT00000391503.1	G	NM_001004059		55175090	+1	no_errors	NM_001004059	genbank	human	validated	54_36p	silent	SNP	0.000	T
DCTN2	10540	genome.wustl.edu	37	12	57928865	57928865	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:57928865G>T	ENST00000548249.1	-	5	604	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	DCTN2_ENST00000543672.1_Missense_Mutation_p.L118M|DCTN2_ENST00000537439.1_Missense_Mutation_p.L90M|DCTN2_ENST00000434715.3_Missense_Mutation_p.L118M|DCTN2_ENST00000551400.1_5'UTR	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCAGTTGTCAGCTCTTGGACC	0.478																																																0			12											147.0	143.0	144.0					12																	57928865		1958	4151	6109	56215132	SO:0001583	missense	10540			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.337C>A	12.37:g.57928865G>T	ENSP00000447824:p.Leu113Met		56215132	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	HMMPfam_Dynamitin	p.L118M	ENST00000548249.1	37	c.352	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038294	0.75617	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086;ENST00000550954;ENST00000546670;ENST00000550750	.	.	.	4.67	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.83545	0.0098	9	0.59425	D	0.04	-20.5367	14.0746	0.64882	0.0:0.0:0.8474:0.1526	.	113;118;113	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	M	113;118;118;90;113;26;78;127;113;90	.	ENSP00000346785:L113M	L	-	1	2	DCTN2	56215132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.973000	0.76116	1.562000	0.49601	0.655000	0.94253	CTG	-	HMMPfam_Dynamitin		0.478	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	protein_coding	OTTHUMT00000407393.2	G	NM_006400		56215132	-1	no_errors	NM_006400	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56323900	56323900	+	Missense_Mutation	SNP	C	C	T	rs375978950		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr6:56323900C>T	ENST00000361203.3	-	98	22296	c.22289G>A	c.(22288-22290)cGa>cAa	p.R7430Q	DST_ENST00000446842.2_Missense_Mutation_p.R7215Q|DST_ENST00000244364.6_Missense_Mutation_p.R5140Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.R7719Q|DST_ENST00000421834.2_Missense_Mutation_p.R5426Q|DST_ENST00000370769.4_Missense_Mutation_p.R7541Q|DST_ENST00000370788.2_Missense_Mutation_p.R5344Q			Q03001	DYST_HUMAN	dystonin	7539					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGAACCTGCTCGGGGTGTAGG	0.537																																																0			6						C	GLN/ARG	0,3906		0,0,1953	80.0	84.0	83.0		15419	5.8	1.0	6		83	1,8291		0,1,4145	no	missense	DST	NM_015548.4	43	0,1,6098	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	5140/5172	56323900	1,12197	1953	4146	6099	56431859	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22289G>A	6.37:g.56323900C>T	ENSP00000354508:p.Arg7430Gln		56431859	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.R5466Q	ENST00000361203.3	37	c.16397		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604748|4.604748	0.87157|0.87157	0.0|0.0	1.21E-4|1.21E-4	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65549	.|0.98;-0.15;-0.16;0.02;0.78;0.03;-0.07	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.41294	.|D	.|0.000911	T|T	0.64702|0.64702	0.2622|0.2622	L|L	0.40543|0.40543	1.245|1.245	.|.	.|.	.|.	.|P;B;D;D;D;D;D;D	.|0.89917	.|0.955;0.023;1.0;1.0;0.998;0.999;0.999;1.0	.|B;B;D;D;P;D;D;P	.|0.79108	.|0.207;0.002;0.99;0.992;0.883;0.984;0.99;0.905	T|T	0.55768|0.55768	-0.8089|-0.8089	4|9	.|0.15499	.|T	.|0.54	.|.	19.9991|19.9991	0.97403|0.97403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5426;7541;7719;7539;5140;227;227;5344	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	K|Q	228|5140;7719;7541;5426;7215;5344;7430	.|ENSP00000244364:R5140Q;ENSP00000359790:R7719Q;ENSP00000359805:R7541Q;ENSP00000400883:R5426Q;ENSP00000393645:R7215Q;ENSP00000359824:R5344Q;ENSP00000354508:R7430Q	.|ENSP00000244364:R5140Q	E|R	-|-	1|2	0|0	DST|DST	56431859|56431859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.089000|6.089000	0.71384|0.71384	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAG|CGA	-	NULL		0.537	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56431859	-1	no_errors	NM_183380	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GCNT3	9245	genome.wustl.edu	37	15	59910578	59910578	+	Silent	SNP	T	T	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:59910578T>C	ENST00000396065.1	+	3	589	c.141T>C	c.(139-141)tcT>tcC	p.S47S	GCNT3_ENST00000560585.1_Silent_p.S47S	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	47					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGGGAATCTCAAAGCCAGT	0.502																																																0			15											103.0	108.0	106.0					15																	59910578		2190	4290	6480	57697870	SO:0001819	synonymous_variant	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.141T>C	15.37:g.59910578T>C			57697870		Silent	SNP	HMMPfam_Branch	p.S47	ENST00000396065.1	37	c.141	CCDS10172.1	15																																																																																			-	NULL		0.502	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	protein_coding	OTTHUMT00000256068.1	T	NM_004751		57697870	+1	no_errors	NM_004751	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
ZFHX3	463	genome.wustl.edu	37	16	72828212	72828212	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:72828212T>A	ENST00000268489.5	-	9	9041	c.8369A>T	c.(8368-8370)aAa>aTa	p.K2790I	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2790					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCCATGGTTTTACTCACAGG	0.478																																																0			16											81.0	84.0	83.0					16																	72828212		2198	4300	6498	71385713	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8369A>T	16.37:g.72828212T>A	ENSP00000268489:p.Lys2790Ile		71385713	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.K2790I	ENST00000268489.5	37	c.8369	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802174	0.31869	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.77489	-1.1;-1.07	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000062	D	0.86314	0.5903	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87176	0.2224	10	0.66056	D	0.02	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	2790	Q15911	ZFHX3_HUMAN	I	2790;1876	ENSP00000268489:K2790I;ENSP00000438926:K1876I	ENSP00000268489:K2790I	K	-	2	0	ZFHX3	71385713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.242000	0.72376	2.277000	0.76020	0.528000	0.53228	AAA	-	NULL		0.478	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	T	NM_006885		71385713	-1	no_errors	NM_006885	genbank	human	validated	54_36p	missense	SNP	1.000	A
CNTNAP4	85445	genome.wustl.edu	37	16	76572045	76572045	+	Missense_Mutation	SNP	G	G	A	rs143077619|rs199555645	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr16:76572045G>A	ENST00000476707.1	+	18	3176	c.3037G>A	c.(3037-3039)Gtg>Atg	p.V1013M	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V1009M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V961M|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V937M|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1010					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGCTCATCCGTGATATACAA	0.289													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11728	0.0		0.0	False		,,,				2504	0.0															0			16						G	MET/VAL,MET/VAL	1,3565		0,1,1782	18.0	17.0	17.0		3027,2809	4.4	1.0	16	dbSNP_134	17	2,8110		0,2,4054	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	21,21	0,3,5836	AA,AG,GG		0.0247,0.028,0.0257	benign,benign	1010/1309,937/1236	76572045	3,11675	1783	4056	5839	75129546	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3037G>A	16.37:g.76572045G>A	ENSP00000417628:p.Val1013Met		75129546	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like	p.V937M	ENST00000476707.1	37	c.2809		16	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.70	2.314714	0.40996	2.8E-4	2.47E-4	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.35	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.204155	0.24074	N	0.041790	T	0.35219	0.0924	.	.	.	0.34742	D	0.730908	P;P;B	0.42827	0.791;0.468;0.088	B;B;B	0.32624	0.149;0.104;0.03	T	0.50250	-0.8850	9	0.32370	T	0.25	.	16.2718	0.82624	0.0:0.1325:0.8675:0.0	.	937;1013;1010	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	M	1009;961;937;1013	ENSP00000306893:V1009M;ENSP00000439733:V961M;ENSP00000418741:V937M;ENSP00000417628:V1013M	ENSP00000306893:V1009M	V	+	1	0	CNTNAP4	75129546	0.999000	0.42202	0.968000	0.41197	0.961000	0.63080	2.858000	0.48356	1.463000	0.47967	0.655000	0.94253	GTG	-	superfamily_Concanavalin A-like lectins/glucanases		0.289	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	G	NM_033401		75129546	+1	no_errors	NM_138994	genbank	human	validated	54_36p	missense	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76395516	76395516	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr13:76395516G>A	ENST00000321797.8	+	12	2433	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	LMO7_ENST00000465261.2_Missense_Mutation_p.R571H|LMO7_ENST00000357063.3_Missense_Mutation_p.R856H|LMO7_ENST00000377534.3_Missense_Mutation_p.R856H|LMO7_ENST00000341547.4_Missense_Mutation_p.R522H|LMO7_ENST00000526202.1_Missense_Mutation_p.R421H			Q8WWI1	LMO7_HUMAN	LIM domain 7	856					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGAGGACCGTGTAACAACT	0.438																																																0			13											106.0	102.0	103.0					13																	76395516		2203	4300	6503	75293517	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1712G>A	13.37:g.76395516G>A	ENSP00000317802:p.Arg571His		75293517	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMSmart_CH,HMMPfam_CH,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM	p.R522H	ENST00000321797.8	37	c.1565		13	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541153	0.13250	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.43294	1.54;1.53;1.53;0.96;0.96;0.96;0.95	5.91	-6.5	0.01884	.	2.474630	0.00822	N	0.001596	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.006;0.001;0.003;0.002	B;B;B;B;B	0.09377	0.0;0.001;0.001;0.0;0.004	T	0.08722	-1.0708	10	0.24483	T	0.36	4.9058	4.1616	0.10287	0.3727:0.3356:0.2171:0.0745	.	421;522;856;571;804	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	H	522;856;856;470;571;421;571	ENSP00000342112:R522H;ENSP00000349571:R856H;ENSP00000366757:R856H;ENSP00000366719:R470H;ENSP00000317802:R571H;ENSP00000431129:R421H;ENSP00000433352:R571H	ENSP00000317802:R571H	R	+	2	0	LMO7	75293517	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.337000	0.07852	-1.211000	0.02624	-0.806000	0.03193	CGT	-	NULL		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	G	NM_005358		75293517	+1	no_errors	NM_005358	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
WDR61	80349	genome.wustl.edu	37	15	78575864	78575864	+	Splice_Site	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:78575864C>T	ENST00000267973.2	-	11	1100		c.e11-1		RP11-762H8.4_ENST00000558192.1_RNA|WDR61_ENST00000558311.1_Splice_Site|WDR61_ENST00000558459.1_Splice_Site|WDR61_ENST00000559332.1_Splice_Site			Q9GZS3	WDR61_HUMAN	WD repeat domain 61						histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCCCAGACCTGTAAATTTA	0.294																																																0			15											101.0	100.0	100.0					15																	78575864		2195	4293	6488	76362919	SO:0001630	splice_region_variant	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.829-1G>A	15.37:g.78575864C>T			76362919	D3DW84|Q6IA22|Q7Z4X4	Splice_Site	SNP	-	e10-1	ENST00000267973.2	37	c.829-1	CCDS10300.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454953	0.84209	.	.	ENSG00000140395	ENST00000267973	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9964	0.92815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR61	76362919	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.656000	0.83736	2.808000	0.96608	0.655000	0.94253	.	-	-		0.294	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	protein_coding	OTTHUMT00000289803.3	C	NM_025234	Intron	76362919	-1	no_errors	NM_025234	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T
GDPD4	220032	genome.wustl.edu	37	11	76940193	76940193	+	Splice_Site	SNP	A	A	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:76940193A>C	ENST00000376217.2	-	14	1723		c.e14+1		GDPD4_ENST00000315938.4_Splice_Site			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						atatataCTTACCAGTGAAAA	0.303																																																0			11											25.0	24.0	24.0					11																	76940193		2199	4290	6489	76617841	SO:0001630	splice_region_variant	220032			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1472+1T>G	11.37:g.76940193A>C			76617841	Q7Z5B0	Splice_Site	SNP	-	e13+2	ENST00000376217.2	37	c.1472+2		11	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799387	0.70567	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5272	0.61601	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GDPD4	76617841	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.414000	0.66405	2.077000	0.62373	0.528000	0.53228	.	-	-		0.303	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	protein_coding	OTTHUMT00000382075.1	A	NM_182833	Intron	76617841	-1	no_errors	NM_182833	genbank	human	provisional	54_36p	splice_site	SNP	1.000	C
AQP11	282679	genome.wustl.edu	37	11	77301482	77301482	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:77301482A>G	ENST00000313578.3	+	1	803	c.445A>G	c.(445-447)Agc>Ggc	p.S149G	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	149					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTATCACGTCAGCGAGAGGAG	0.582																																																0			11											97.0	81.0	87.0					11																	77301482		2200	4292	6492	76979130	SO:0001583	missense	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.445A>G	11.37:g.77301482A>G	ENSP00000318770:p.Ser149Gly		76979130		Missense_Mutation	SNP	PatternScan_MIP,superfamily_MIP	p.S149G	ENST00000313578.3	37	c.445	CCDS8251.1	11	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750571	0.31046	.	.	ENSG00000178301	ENST00000313578	D	0.85258	-1.96	5.54	-3.22	0.05125	Aquaporin-like (2);	0.758346	0.13460	N	0.386211	T	0.69993	0.3173	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54417	-0.8297	10	0.17369	T	0.5	-13.1781	8.8181	0.35009	0.3218:0.1283:0.5499:0.0	.	149	Q8NBQ7	AQP11_HUMAN	G	149	ENSP00000318770:S149G	ENSP00000318770:S149G	S	+	1	0	AQP11	76979130	0.000000	0.05858	0.926000	0.36857	0.884000	0.51177	0.143000	0.16115	-0.137000	0.11455	0.402000	0.26972	AGC	-	superfamily_MIP		0.582	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP11	protein_coding	OTTHUMT00000382582.1	A	NM_173039		76979130	+1	no_errors	NM_173039	genbank	human	provisional	54_36p	missense	SNP	0.072	G
LRIT2	340745	genome.wustl.edu	37	10	85982179	85982179	+	Missense_Mutation	SNP	C	C	G	rs143048137	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:85982179C>G	ENST00000372113.4	-	3	1155	c.1150G>C	c.(1150-1152)Gca>Cca	p.A384P	LRIT2_ENST00000538192.1_Missense_Mutation_p.A394P	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	384	Fibronectin type-III.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCAGCCACTGCAAGCCACTCC	0.532																																																0			10											85.0	77.0	80.0					10																	85982179		2203	4300	6503	85972159	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1150G>C	10.37:g.85982179C>G	ENSP00000361185:p.Ala384Pro		85972159	B7ZME6	Missense_Mutation	SNP	HMMPfam_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2	p.A384P	ENST00000372113.4	37	c.1150	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169060	0.57584	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.63417	0.41;-0.04	4.93	0.717	0.18196	Fibronectin, type III (1);	0.336296	0.34156	N	0.004202	T	0.59224	0.2178	L	0.52759	1.655	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.55161	0.77;0.77	T	0.49331	-0.8951	10	0.31617	T	0.26	.	4.1855	0.10395	0.158:0.4925:0.0:0.3495	.	394;384	B7ZME6;A6NDA9	.;LRIT2_HUMAN	P	384;394	ENSP00000361185:A384P;ENSP00000438264:A394P	ENSP00000361185:A384P	A	-	1	0	LRIT2	85972159	0.007000	0.16637	0.008000	0.14137	0.827000	0.46813	0.866000	0.27954	0.160000	0.19432	0.557000	0.71058	GCA	-	NULL		0.532	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	protein_coding	OTTHUMT00000049110.4	C	XM_291697		85972159	-1	no_errors	NM_001017924	genbank	human	validated	54_36p	missense	SNP	0.030	G
PDLIM1	9124	genome.wustl.edu	37	10	97007035	97007035	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:97007035C>T	ENST00000329399.6	-	5	730	c.622G>A	c.(622-624)Gag>Aag	p.E208K	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	208					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTCGGGGGCTCATTCAACTCC	0.458																																																0			10											117.0	109.0	111.0					10																	97007035		2203	4300	6503	96997025	SO:0001583	missense	9124			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.622G>A	10.37:g.97007035C>T	ENSP00000360305:p.Glu208Lys		96997025	B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMSmart_ZM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM	p.E208K	ENST00000329399.6	37	c.622	CCDS7441.1	10	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806074	0.50421	.	.	ENSG00000107438	ENST00000329399	T	0.21031	2.03	5.63	5.63	0.86233	.	0.094339	0.64402	D	0.000001	T	0.46776	0.1410	M	0.77616	2.38	0.58432	D	0.999998	D	0.69078	0.997	P	0.61132	0.884	T	0.41592	-0.9500	10	0.52906	T	0.07	-26.267	18.6672	0.91495	0.0:1.0:0.0:0.0	.	208	O00151	PDLI1_HUMAN	K	208	ENSP00000360305:E208K	ENSP00000360305:E208K	E	-	1	0	PDLIM1	96997025	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	4.763000	0.62257	2.651000	0.90000	0.655000	0.94253	GAG	-	NULL		0.458	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	protein_coding	OTTHUMT00000049508.1	C			96997025	-1	no_errors	NM_020992	genbank	human	provisional	54_36p	missense	SNP	1.000	T
UBTFL6	643615	genome.wustl.edu	37	2	98253617	98253617	+	IGR	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:98253617G>T								ANKRD36B (47290 upstream) : COX5B (8885 downstream)																							GTTTTTGGAAGAGACCTCACT	0.408																																																0			2																																								97620049	SO:0001628	intergenic_variant	643615																															2.37:g.98253617G>T			97620049		Missense_Mutation	SNP	superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box	p.L220I		37	c.658		2																																																																																			-	superfamily_HMG-box	0	0.408					LOC643615			G			97620049	-1	no_errors	XM_001714896	genbank	human	model	54_36p	missense	SNP	0.087	T
CCDC53	51019	genome.wustl.edu	37	12	102433738	102433738	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:102433738A>G	ENST00000240079.6	-	5	504	c.343T>C	c.(343-345)Tct>Cct	p.S115P	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.S114P	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	115						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTAGTCCAGAGTCTTGTGTA	0.363																																																0			12											197.0	181.0	186.0					12																	102433738		1848	4111	5959	100957868	SO:0001583	missense	51019			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.343T>C	12.37:g.102433738A>G	ENSP00000240079:p.Ser115Pro		100957868	B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	HMMPfam_DUF2360	p.S115P	ENST00000240079.6	37	c.343	CCDS44959.1	12	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918420	0.17982	.	.	ENSG00000120860	ENST00000240079;ENST00000545679	.	.	.	5.82	0.624	0.17659	.	0.514279	0.22456	N	0.059839	T	0.11922	0.0290	N	0.04355	-0.22	0.24039	N	0.996088	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.12630	-1.0540	9	0.21014	T	0.42	-13.7664	1.0586	0.01596	0.4457:0.15:0.2595:0.1447	.	114;115	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	P	115;114	.	ENSP00000240079:S115P	S	-	1	0	CCDC53	100957868	0.141000	0.22595	1.000000	0.80357	0.996000	0.88848	-0.703000	0.05063	0.466000	0.27193	0.524000	0.50904	TCT	-	HMMPfam_DUF2360		0.363	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC53	protein_coding	OTTHUMT00000398685.1	A	NM_016053		100957868	-1	no_errors	ENST00000240079	ensembl	human	known	54_36p	missense	SNP	1.000	G
PKD2L1	9033	genome.wustl.edu	37	10	102056040	102056040	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr10:102056040C>A	ENST00000318222.3	-	7	1577	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	PKD2L1_ENST00000353274.3_Missense_Mutation_p.V399L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.V324L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	399					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCACAGCCACAATGGAGAGC	0.567																																																0			10											45.0	43.0	44.0					10																	102056040		2203	4300	6503	102046030	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1195G>T	10.37:g.102056040C>A	ENSP00000325296:p.Val399Leu		102046030	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels	p.V399L	ENST00000318222.3	37	c.1195	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275084	0.23307	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.70749	-0.51;-0.51;-0.51	5.8	-5.52	0.02560	Polycystin cation channel, PKD1/PKD2 (1);	0.245474	0.41396	D	0.000888	T	0.46737	0.1408	L	0.39085	1.19	0.26247	N	0.978783	B;B	0.31769	0.339;0.006	B;B	0.34824	0.19;0.021	T	0.52472	-0.8571	10	0.09843	T	0.71	-0.381	3.8195	0.08830	0.0936:0.4108:0.0916:0.404	.	352;399	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	L	324;399;399;397	ENSP00000345068:V324L;ENSP00000266049:V399L;ENSP00000325296:V399L	ENSP00000325296:V399L	V	-	1	0	PKD2L1	102046030	0.007000	0.16637	0.009000	0.14445	0.593000	0.36681	0.231000	0.17872	-1.124000	0.02936	-1.182000	0.01712	GTG	-	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels		0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102046030	-1	no_errors	NM_016112	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
TAL2	6887	genome.wustl.edu	37	9	108424983	108424983	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr9:108424983C>T	ENST00000334077.3	+	1	246	c.206C>T	c.(205-207)gCt>gTt	p.A69V		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	69					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										ACGGGAGTGGCTGCTCAGGGG	0.532			T	TRB@	T-ALL																																		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0			9											76.0	74.0	75.0					9																	108424983		2203	4300	6503	107464804	SO:0001583	missense	6887				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.206C>T	9.37:g.108424983C>T	ENSP00000334547:p.Ala69Val		107464804	A0AVI7	Missense_Mutation	SNP	HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH	p.A69V	ENST00000334077.3	37	c.206	CCDS6767.1	9	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021787	0.35701	.	.	ENSG00000186051	ENST00000334077	D	0.96427	-4.01	5.52	3.55	0.40652	Helix-loop-helix DNA-binding (1);	0.540131	0.21791	N	0.069080	D	0.93657	0.7974	L	0.56769	1.78	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	D	0.85280	0.1061	10	0.27082	T	0.32	0.0013	10.8787	0.46925	0.133:0.6095:0.2574:0.0	.	69	Q16559	TAL2_HUMAN	V	69	ENSP00000334547:A69V	ENSP00000334547:A69V	A	+	2	0	TAL2	107464804	0.001000	0.12720	0.004000	0.12327	0.625000	0.37756	0.212000	0.17497	1.444000	0.47605	0.655000	0.94253	GCT	-	superfamily_HLH_basic		0.532	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAL2	protein_coding	OTTHUMT00000053504.1	C	NM_005421		107464804	+1	no_errors	NM_005421	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
RANBP2	5903	genome.wustl.edu	37	2	109381770	109381770	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:109381770G>T	ENST00000283195.6	+	20	4901	c.4775G>T	c.(4774-4776)aGc>aTc	p.S1592I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1592					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGAGACAAGCAAGGCTCCA	0.448																																																0			2											135.0	138.0	137.0					2																	109381770		2203	4300	6503	108748202	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4775G>T	2.37:g.109381770G>T	ENSP00000283195:p.Ser1592Ile		108748202	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1	p.S1592I	ENST00000283195.6	37	c.4775	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	g	14.75	2.628054	0.46944	.	.	ENSG00000153201	ENST00000283195	T	0.29397	1.57	4.78	0.665	0.17896	.	.	.	.	.	T	0.20251	0.0487	L	0.29908	0.895	0.22305	N	0.999213	B	0.26318	0.146	B	0.24701	0.055	T	0.21621	-1.0240	9	0.35671	T	0.21	-4.842	7.7719	0.29012	0.1525:0.2488:0.5987:0.0	.	1592	P49792	RBP2_HUMAN	I	1592	ENSP00000283195:S1592I	ENSP00000283195:S1592I	S	+	2	0	RANBP2	108748202	0.000000	0.05858	0.994000	0.49952	0.816000	0.46133	-0.071000	0.11505	0.135000	0.18707	-0.150000	0.13652	AGC	-	NULL		0.448	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	protein_coding	OTTHUMT00000253594.1	G	NM_006267		108748202	+1	no_errors	NM_006267	genbank	human	reviewed	54_36p	missense	SNP	0.514	T
OAS3	4940	genome.wustl.edu	37	12	113385895	113385895	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr12:113385895G>C	ENST00000228928.7	+	5	1199	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	340	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGCAGTCTTGGAAGGGGCCGG	0.572																																																0			12											29.0	30.0	30.0					12																	113385895		1920	4117	6037	111870278	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1020G>C	12.37:g.113385895G>C	ENSP00000228928:p.Trp340Cys		111870278	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2	p.W340C	ENST00000228928.7	37	c.1020	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555269	0.27739	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.59364	0.27	4.05	4.05	0.47172	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.77157	0.4089	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81136	-0.1070	9	0.87932	D	0	.	11.9137	0.52753	0.0:0.0:1.0:0.0	.	340	Q9Y6K5	OAS3_HUMAN	C	340	ENSP00000228928:W340C	ENSP00000228928:W340C	W	+	3	0	OAS3	111870278	0.998000	0.40836	0.889000	0.34880	0.004000	0.04260	4.084000	0.57650	2.251000	0.74343	0.655000	0.94253	TGG	-	HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain		0.572	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	protein_coding	OTTHUMT00000405920.1	G			111870278	+1	no_errors	NM_006187	genbank	human	reviewed	54_36p	missense	SNP	0.857	C
NDST4	64579	genome.wustl.edu	37	4	115997231	115997231	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr4:115997231T>A	ENST00000264363.2	-	2	1640	c.962A>T	c.(961-963)aAt>aTt	p.N321I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	321	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCTTTGACATTCATCCTTGT	0.343																																																0			4											92.0	80.0	84.0					4																	115997231		2203	4300	6503	116216680	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.962A>T	4.37:g.115997231T>A	ENSP00000264363:p.Asn321Ile		116216680	Q2KHM8	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_Sulfotransfer_1	p.N321I	ENST00000264363.2	37	c.962	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167232	0.78339	.	.	ENSG00000138653	ENST00000264363	T	0.36520	1.25	5.79	5.79	0.91817	.	0.042656	0.85682	D	0.000000	T	0.42223	0.1193	L	0.56769	1.78	0.58432	D	0.999999	B	0.26120	0.142	B	0.33121	0.158	T	0.34329	-0.9833	10	0.62326	D	0.03	.	16.1304	0.81428	0.0:0.0:0.0:1.0	.	321	Q9H3R1	NDST4_HUMAN	I	321	ENSP00000264363:N321I	ENSP00000264363:N321I	N	-	2	0	NDST4	116216680	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.966000	0.87956	2.202000	0.70862	0.482000	0.46254	AAT	-	NULL		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	T	NM_022569		116216680	-1	no_errors	NM_022569	genbank	human	provisional	54_36p	missense	SNP	1.000	A
LRRC58	116064	genome.wustl.edu	37	3	120053755	120053755	+	Silent	SNP	A	A	C			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr3:120053755A>C	ENST00000295628.3	-	3	956	c.861T>G	c.(859-861)ctT>ctG	p.L287L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	287										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CCAAGTATCTAAGAAGATTTC	0.373																																																0			3											63.0	58.0	60.0					3																	120053755		1836	4085	5921	121536445	SO:0001819	synonymous_variant	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.861T>G	3.37:g.120053755A>C			121536445		Silent	SNP	superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP	p.L287	ENST00000295628.3	37	c.861	CCDS46892.1	3																																																																																			-	superfamily_SSF52058		0.373	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	protein_coding	OTTHUMT00000355142.1	A	XM_057296		121536445	-1	no_errors	NM_001099678	genbank	human	validated	54_36p	silent	SNP	0.998	C
CPA2	1358	genome.wustl.edu	37	7	129929507	129929507	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr7:129929507C>T	ENST00000222481.4	+	11	1235	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	394					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CTTGCCAGCCCGTCAGATCCT	0.547																																																0			7											113.0	104.0	107.0					7																	129929507		2203	4300	6503	129716743	SO:0001583	missense	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1180C>T	7.37:g.129929507C>T	ENSP00000222481:p.Arg394Cys		129716743	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	superfamily_Prot_inh_propept,HMMPfam_Propep_M14,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2	p.R392C	ENST00000222481.4	37	c.1174	CCDS5817.2	7	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557064	0.27827	.	.	ENSG00000158516	ENST00000222481	T	0.03441	3.93	5.13	-4.64	0.03349	Peptidase M14, carboxypeptidase A (2);	0.760740	0.12160	N	0.494058	T	0.05502	0.0145	L	0.58354	1.805	0.30299	N	0.789604	B	0.33919	0.432	P	0.44921	0.464	T	0.37430	-0.9706	10	0.87932	D	0	.	2.0174	0.03501	0.4263:0.2148:0.2574:0.1015	.	394	P48052	CBPA2_HUMAN	C	394	ENSP00000222481:R394C	ENSP00000222481:R394C	R	+	1	0	CPA2	129716743	0.880000	0.30214	0.116000	0.21606	0.244000	0.25665	2.155000	0.42301	-0.628000	0.05582	-0.410000	0.06199	CGT	-	superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14		0.547	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	protein_coding	OTTHUMT00000347124.2	C	NM_001869		129716743	+1	no_errors	NM_001869	genbank	human	reviewed	54_36p	missense	SNP	0.972	T
TG	7038	genome.wustl.edu	37	8	133899487	133899487	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:133899487G>A	ENST00000220616.4	+	9	1910	c.1870G>A	c.(1870-1872)Gga>Aga	p.G624R	TG_ENST00000377869.1_Missense_Mutation_p.G624R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	624	Thyroglobulin type-1 5. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACGACAGAAGGAAGCTATGA	0.512																																																0			8											156.0	131.0	140.0					8																	133899487		2203	4300	6503	133968669	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1870G>A	8.37:g.133899487G>A	ENSP00000220616:p.Gly624Arg		133968669	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2	p.G624R	ENST00000220616.4	37	c.1870	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211721	0.79240	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.94687	-3.49;-3.49	5.03	5.03	0.67393	Thyroglobulin type-1 (6);	0.091167	0.47852	D	0.000206	D	0.98226	0.9413	H	0.95850	3.73	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.87932	D	0	.	17.5379	0.87839	0.0:0.0:1.0:0.0	.	624	P01266	THYG_HUMAN	R	624	ENSP00000367100:G624R;ENSP00000220616:G624R	ENSP00000220616:G624R	G	+	1	0	TG	133968669	1.000000	0.71417	0.997000	0.53966	0.695000	0.40330	8.793000	0.91862	2.613000	0.88420	0.655000	0.94253	GGA	-	HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133968669	+1	no_errors	NM_003235	genbank	human	validated	54_36p	missense	SNP	1.000	A
RAB3GAP1	22930	genome.wustl.edu	37	2	135911447	135911447	+	Splice_Site	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:135911447G>T	ENST00000264158.8	+	19	2332		c.e19+1		ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_Splice_Site|RAB3GAP1_ENST00000442034.1_Splice_Site|RAB3GAP1_ENST00000539493.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGCAGAAAAGGTAATTGAGGT	0.413																																																0			2											71.0	70.0	70.0					2																	135911447		2203	4300	6503	135627917	SO:0001630	splice_region_variant	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2289+1G>T	2.37:g.135911447G>T			135627917	A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	-	e19+1	ENST00000264158.8	37	c.2289+1	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002245	0.93227	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135627917	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.817000	0.99352	2.618000	0.88619	0.655000	0.94253	.	-	-		0.413	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	protein_coding	OTTHUMT00000337514.2	G	NM_012233	Intron	135627917	+1	no_errors	NM_012233	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
PCDHB3	56132	genome.wustl.edu	37	5	140482274	140482274	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr5:140482274G>A	ENST00000231130.2	+	1	2041	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	681					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGCCCAGGCCCAGGCCGA	0.687																																																0			5											69.0	76.0	74.0					5																	140482274		2179	4237	6416	140462458	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2041G>A	5.37:g.140482274G>A	ENSP00000231130:p.Ala681Thr		140462458	B2R8P2	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.A681T	ENST00000231130.2	37	c.2041	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380027	0.42207	.	.	ENSG00000113205	ENST00000231130	T	0.50277	0.75	4.29	2.41	0.29592	.	.	.	.	.	T	0.43700	0.1259	M	0.70903	2.155	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.33033	-0.9884	9	0.30854	T	0.27	.	7.7842	0.29083	0.0979:0.1665:0.7357:0.0	.	681	Q9Y5E6	PCDB3_HUMAN	T	681	ENSP00000231130:A681T	ENSP00000231130:A681T	A	+	1	0	PCDHB3	140462458	0.000000	0.05858	0.018000	0.16275	0.841000	0.47740	0.696000	0.25541	0.891000	0.36235	0.485000	0.47835	GCC	-	NULL		0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	G	NM_018937		140462458	+1	no_errors	NM_018937	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
PCDHGA10	56106	genome.wustl.edu	37	5	140794530	140794530	+	Silent	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr5:140794530G>T	ENST00000398610.2	+	1	1788	c.1788G>T	c.(1786-1788)gtG>gtT	p.V596V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGTGGTGGCGGTGGACA	0.706																																																0			5											60.0	72.0	68.0					5																	140794530		2202	4295	6497	140774714	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1788G>T	5.37:g.140794530G>T			140774714	Q9Y5E0	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.V596	ENST00000398610.2	37	c.1788	CCDS47292.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.706	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140774714	+1	no_errors	NM_018913	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	1	160865915	160865915	+	IGR	SNP	C	C	A	rs576569785	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:160865915C>A								ITLN1 (10955 upstream) : RP11-312J18.6 (35613 downstream)																							GCCTTCCTGACCTCCATATGC	0.353													-|||	8	0.00159744	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0082															0			1																																								159132539	SO:0001628	intergenic_variant	646347																															1.37:g.160865915C>A			159132539		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.353					LOC646347			C			159132539	+1	pseudogene	XR_017680	genbank	human	model	54_36p	rna	SNP	0.097	A
IGFN1	91156	genome.wustl.edu	37	1	201182738	201182738	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:201182738A>G	ENST00000335211.4	+	12	8847	c.8717A>G	c.(8716-8718)aAg>aGg	p.K2906R	IGFN1_ENST00000451870.2_Missense_Mutation_p.K449R|IGFN1_ENST00000295591.8_Missense_Mutation_p.K66R	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	449						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTTTCTCCAAGGATGCCCAA	0.572																																																0			1											68.0	63.0	65.0					1																	201182738		2203	4300	6503	199449361	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8717A>G	1.37:g.201182738A>G	ENSP00000334714:p.Lys2906Arg		199449361	F8WAI1|Q9NT72	Missense_Mutation	SNP	HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2	p.K66R	ENST00000335211.4	37	c.197	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168546	0.38315	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.61742	0.67;0.08;0.74	3.01	-0.879	0.10613	.	1.201730	0.06830	U	0.793847	T	0.29620	0.0739	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.27500	0.08	T	0.15925	-1.0420	10	0.12103	T	0.63	.	0.5455	0.00653	0.3672:0.2965:0.1538:0.1824	.	2906	F8WAI1	.	R	2906;449;66	ENSP00000334714:K2906R;ENSP00000398386:K449R;ENSP00000295591:K66R	ENSP00000295591:K66R	K	+	2	0	IGFN1	199449361	0.024000	0.19004	0.001000	0.08648	0.212000	0.24457	0.069000	0.14552	-0.443000	0.07180	-0.669000	0.03829	AAG	-	NULL		0.572	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		A	NM_178275		199449361	+1	no_errors	NM_178275	genbank	human	validated	54_36p	missense	SNP	0.000	G
AGAP1	116987	genome.wustl.edu	37	2	236659022	236659022	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:236659022G>A	ENST00000304032.8	+	6	1143	c.563G>A	c.(562-564)aGg>aAg	p.R188K	AGAP1_ENST00000428334.2_Missense_Mutation_p.R27K|AGAP1_ENST00000409457.1_Missense_Mutation_p.R188K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R188K|AGAP1_ENST00000409538.1_Missense_Mutation_p.R453K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	188	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCTAACCCGAGGGTCATCGAT	0.522																																																0			2											255.0	209.0	225.0					2																	236659022		2203	4300	6503	236323761	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.563G>A	2.37:g.236659022G>A	ENSP00000307634:p.Arg188Lys		236323761	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Miro,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.R188K	ENST00000304032.8	37	c.563	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663470	0.88251	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.78924	1.37;1.37;1.37;1.37;-1.22	5.3	5.3	0.74995	.	0.066382	0.64402	D	0.000014	D	0.87892	0.6292	M	0.72576	2.205	0.80722	D	1	D;P	0.56968	0.978;0.855	D;P	0.72075	0.976;0.836	D	0.88689	0.3207	10	0.87932	D	0	.	19.3124	0.94195	0.0:0.0:1.0:0.0	.	188;188	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	K	188;188;188;453;27	ENSP00000387174:R188K;ENSP00000307634:R188K;ENSP00000338378:R188K;ENSP00000386897:R453K;ENSP00000411824:R27K	ENSP00000307634:R188K	R	+	2	0	AGAP1	236323761	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.548000	0.98103	2.650000	0.89964	0.655000	0.94253	AGG	-	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175		0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	G	NM_014914		236323761	+1	no_errors	NM_001037131	genbank	human	validated	54_36p	missense	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238274654	238274654	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:238274654C>A	ENST00000295550.4	-	12	5977	c.5525G>T	c.(5524-5526)gGg>gTg	p.G1842V	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1235V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1642V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1641V|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1636V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1636V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1842	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCATCAAACCCCAGAATCAC	0.502																																																0			2											56.0	57.0	57.0					2																	238274654		2202	4296	6498	237939393	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5525G>T	2.37:g.238274654C>A	ENSP00000295550:p.Gly1842Val		237939393	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.G1842V	ENST00000295550.4	37	c.5525	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821955	0.50739	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.000000	0.56097	D	0.000035	T	0.52041	0.1710	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.48019	-0.9071	10	0.02654	T	1	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	1235;1636;1842	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	1842;1641;1636;1235;1636;1642	ENSP00000295550:G1842V;ENSP00000315609:G1641V;ENSP00000315873:G1636V;ENSP00000418285:G1235V;ENSP00000386844:G1636V;ENSP00000295546:G1642V	ENSP00000295550:G1842V	G	-	2	0	COL6A3	237939393	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	7.265000	0.78442	2.723000	0.93209	0.655000	0.94253	GGG	-	superfamily_vWA-like,HMMSmart_SM00327		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369		237939393	-1	no_errors	NM_004369	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
RPS7P5	645884	genome.wustl.edu	37	1	240176173	240176173	+	IGR	SNP	G	G	T			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:240176173G>T								RP11-35L17.3 (95918 upstream) : FMN2 (79006 downstream)																							GAAAATCCAAGTCTGGCTAGT	0.418																																																0			1																																								238242796	SO:0001628	intergenic_variant	645884																															1.37:g.240176173G>T			238242796		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.418					LOC645884			G			238242796	+1	pseudogene	XR_017475	genbank	human	model	54_36p	rna	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578443	7578444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:7578443_7578444insG	ENST00000269305.4	-	5	675_676	c.486_487insC	c.(484-489)atctacfs	p.Y163fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y163fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Y163fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATGG	0.624		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	81	Substitution - Missense(49)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)	breast(16)|lung(12)|liver(8)|haematopoietic_and_lymphoid_tissue(7)|skin(6)|large_intestine(5)|ovary(5)|stomach(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	17																																								7519169	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487dupC	17.37:g.7578444_7578444dupG	ENSP00000269305:p.Tyr163fs		7519168	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.Y162fs	ENST00000269305.4	37	c.487_486	CCDS11118.1	17																																																																																			-	HMMPfam_P53,superfamily_p53-like transcription factors		0.624	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546		7519169	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:0.999	G
NF1	4763	genome.wustl.edu	37	17	29587362	29587390	+	Splice_Site	DEL	TTCTAATGACTTTGCATTTTTGAAGGTTT	TTCTAATGACTTTGCATTTTTGAAGGTTT	-	rs181462219|rs373847117		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TTCTAATGACTTTGCATTTTTGAAGGTTT	TTCTAATGACTTTGCATTTTTGAAGGTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr17:29587362_29587390delTTCTAATGACTTTGCATTTTTGAAGGTTT	ENST00000358273.4	+	34	4813_4817	c.4430_4434delTTCTAATGACTTTGCATTTTTGAAGGTTT	c.(4429-4434)attcta>a	p.IL1477fs	NF1_ENST00000356175.3_Splice_Site_p.IL1456fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1477					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.?(5)	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)		GTGTTGAAAATTCTAATGACTTTGCATTTTTGAAGGTTTTTCCTTGATA	0.341			"""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	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	17	GRCh37	CS000876|CS072255|CS086423	NF1	S																																				26611516	SO:0001630	splice_region_variant	4763	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.4431-1TTCTAATGACTTTGCATTTTTGAAGGTTT>-	17.37:g.29587362_29587390delTTCTAATGACTTTGCATTTTTGAAGGTTT			26611488	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	-	e34-1	ENST00000358273.4	37	c.4431-25_4431-1	CCDS42292.1	17																																																																																			(deletion:intron[26610274,26611512], cds_exon[26611513,26611659])	-		0.341	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	TTCTAATGACTTTGCATTTTTGAAGGTTT	NM_000267	Frame_Shift_Del	26611516	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.487:0.544:0.584:0.651:0.695:0.697:0.680:0.621:0.617:0.639:0.872:0.871:0.714:0.283:0.299:0.592:0.806:0.850:0.860:0.730:0.448:0.345:0.438:1.000:1.000:1.000:1.000:1.000:1.000	-
MS4A14	84689	genome.wustl.edu	37	11	60183825	60183832	+	Frame_Shift_Del	DEL	TCAGAAGT	TCAGAAGT	-	rs532540660		TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TCAGAAGT	TCAGAAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr11:60183825_60183832delTCAGAAGT	ENST00000300187.6	+	5	1661_1668	c.1384_1391delTCAGAAGT	c.(1384-1392)tcagaagttfs	p.SEV462fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.SEV445fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.SEV495fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.SEV350fs	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	462	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGATATTAGATCAGAAGTTATGGAAGAG	0.394																																																0			11																																								59940408	SO:0001589	frameshift_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1384_1391delTCAGAAGT	11.37:g.60183825_60183832delTCAGAAGT	ENSP00000300187:p.Ser462fs		59940401	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Frame_Shift_Del	DEL	HMMPfam_CD20	p.S462fs	ENST00000300187.6	37	c.1384_1391	CCDS31569.1	11																																																																																			(deletion:cds_exon[59939486,59941057])	NULL		0.394	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	protein_coding	OTTHUMT00000395383.2	TCAGAAGT			59940408	+1	no_errors	NM_032597	genbank	human	validated	54_36p	frame_shift_del	DEL	0.538:0.858:0.888:0.947:0.949:0.946:0.937:0.797	-
TLN2	83660	genome.wustl.edu	37	15	63014577	63014595	+	Frame_Shift_Del	DEL	CCAAAGCCGCAGTGCCCAC	CCAAAGCCGCAGTGCCCAC	-	rs199685886|rs368082410|rs113672570	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	CCAAAGCCGCAGTGCCCAC	CCAAAGCCGCAGTGCCCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:63014577_63014595delCCAAAGCCGCAGTGCCCAC	ENST00000561311.1	+	25	3247_3265	c.3017_3035delCCAAAGCCGCAGTGCCCAC	c.(3016-3036)gccaaagccgcagtgcccaccfs	p.AKAAVPT1006fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.AKAAVPT1006fs			Q9Y4G6	TLN2_HUMAN	talin 2	1006	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A1009T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGTCCTCTGCCAAAGCCGCAGTGCCCACCGTGAGTGAC	0.589																																																1	Substitution - Missense(1)	kidney(1)	15																																								60801887	SO:0001589	frameshift_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3017_3035delCCAAAGCCGCAGTGCCCAC	15.37:g.63014577_63014595delCCAAAGCCGCAGTGCCCAC	ENSP00000453508:p.Ala1006fs		60801869	A6NLB8	Frame_Shift_Del	DEL	PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ	p.K1007fs	ENST00000561311.1	37	c.3017_3035	CCDS32261.1	15																																																																																			(deletion:cds_exon[60801844,60801978])	superfamily_SSF109885		0.589	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	CCAAAGCCGCAGTGCCCAC			60801887	+1	no_errors	NM_015059	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:0.997:1.000:1.000:1.000:1.000:0.996:0.237:0.299:0.336:0.068:0.997:1.000:0.993:1.000:1.000:0.986:0.998:0.994	-
Unknown	0	genome.wustl.edu	37	15	90827881	90827882	+	IGR	INS	-	-	TTTG	rs367838898|rs36104690|rs111474345	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr15:90827881_90827882insTTTG								RP11-697E2.7 (7040 upstream) : RN7SL736P (9300 downstream)																							GCCTtttgttttttgtttgttt	0.48														1426	0.284744	0.2859	0.3343	5008	,	,		19560	0.1429		0.3946	False		,,,				2504	0.2812															0			15																																								88628886	SO:0001628	intergenic_variant	0																															15.37:g.90827886_90827889dupTTTG			88628885		Splice_Site	INS	-	NULL		37	c.NULL		15																																																																																			-	-	0	0.480					ENSG00000214434			-			88628886	-1	no_coding_region:pseudogene	ENST00000398317	ensembl	human	novel	54_36p	splice_site_ins	INS	0.022:0.017	TTTG
ZHX1	11244	genome.wustl.edu	37	8	124266869	124266902	+	Frame_Shift_Del	DEL	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	-	rs200803962|rs201550572|rs61744421|rs376788877	byFrequency	TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr8:124266869_124266902delTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	ENST00000522655.1	-	3	1825_1858	c.1285_1318delAGTCAGGTACCTGCTGCTCAGCCTACTGCAGAAA	c.(1285-1320)agtcaggtacctgctgctcagcctactgcagaaacafs	p.SQVPAAQPTAET429fs	ZHX1_ENST00000297857.2_Frame_Shift_Del_p.SQVPAAQPTAET429fs|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Frame_Shift_Del_p.SQVPAAQPTAET429fs|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	429	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTGGCTTTGTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACTTTTCTGTATA	0.449																																																0			8																																								124336083	SO:0001589	frameshift_variant	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1285_1318delAGTCAGGTACCTGCTGCTCAGCCTACTGCAGAAA	8.37:g.124266869_124266902delTTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT	ENSP00000428821:p.Ser429fs		124336050	Q8IWD8	Frame_Shift_Del	DEL	PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMSmart_HOX,superfamily_Homeodomain_like,HMMPfam_Homeobox	p.S429fs	ENST00000522655.1	37	c.1318_1285	CCDS6342.1	8																																																																																			(deletion:cds_exon[124334746,124337367])	NULL		0.449	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	protein_coding	OTTHUMT00000381759.1	TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT			124336083	-1	no_errors	NM_001017926	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.816:0.792:0.965:0.964:0.512:0.493:0.010:0.000:0.000:0.000:0.071:1.000:1.000:1.000:1.000:0.996:0.901:0.993:0.940:0.871:0.873:0.752:0.706:0.703:0.682:0.596:0.898:0.973:0.998:1.000:1.000:0.998:0.998:0.998	-
SF3B4	10262	genome.wustl.edu	37	1	149899095	149899096	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:149899095_149899096insGT	ENST00000271628.8	-	2	709_710	c.125_126insAC	c.(124-126)accfs	p.T42fs	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	42	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTGGCATGTGGGTGTTGACTAC	0.545																																																0			1																																								148165720	SO:0001589	frameshift_variant	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.124_125dupAC	1.37:g.149899098_149899099dupGT	ENSP00000271628:p.Thr42fs		148165719	Q5SZ63	Frame_Shift_Ins	INS	HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1	p.H43fs	ENST00000271628.8	37	c.126_125	CCDS941.1	1																																																																																			-	HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1		0.545	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	protein_coding	OTTHUMT00000033753.1	-	NM_005850		148165720	-1	no_errors	NM_005850	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.976:1.000	GT
RFWD2	64326	genome.wustl.edu	37	1	175958601	175958609	+	In_Frame_Del	DEL	AGTGGACAC	AGTGGACAC	-			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	AGTGGACAC	AGTGGACAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr1:175958601_175958609delAGTGGACAC	ENST00000367669.3	-	16	2250_2258	c.1736_1744delGTGTCCACT	c.(1735-1746)tgtgtccactac>tac	p.CVH579del	RFWD2_ENST00000308769.8_In_Frame_Del_p.CVH555del	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	579					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.V580V(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGATCATAGTAGTGGACACAGTGATCTAA	0.33																																					Ovarian(134;1413 1765 5706 35534 51541)											1	Substitution - coding silent(1)	lung(1)	1																																								174225232	SO:0001651	inframe_deletion	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1736_1744delGTGTCCACT	1.37:g.175958601_175958609delAGTGGACAC	ENSP00000356641:p.Cys579_His581del		174225224	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	In_Frame_Del	DEL	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.CVH579in_frame_del	ENST00000367669.3	37	c.1744_1736	CCDS30944.1	1																																																																																			(deletion:cds_exon[174225121,174225238])	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.330	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	protein_coding	OTTHUMT00000084672.2	AGTGGACAC	NM_022457		174225232	-1	no_errors	NM_022457	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
SP140	11262	genome.wustl.edu	37	2	231175852	231175869	+	Splice_Site	DEL	GCCTCTTTCTTTTGCAGA	GCCTCTTTCTTTTGCAGA	-			TCGA-61-1895-01A-01W-0639-09	TCGA-61-1895-11A-01W-0639-09	GCCTCTTTCTTTTGCAGA	GCCTCTTTCTTTTGCAGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13b583b0-b80c-4a77-9170-78ab603b1c00	284bcfd0-a8f3-49e1-a9d6-e442ce603bf2	g.chr2:231175852_231175869delGCCTCTTTCTTTTGCAGA	ENST00000392045.3	+	25	2397_2398	c.2283_2284delGCCTCTTTCTTTTGCAGA	c.(2281-2286)ttgcct>ttct	p.761_762LP>F	SP140_ENST00000350136.5_Splice_Site_p.630_631LP>F|SP140_ENST00000420434.3_Splice_Site_p.734_735LP>F|SP140_ENST00000486687.2_Splice_Site_p.685_686LP>F|SP140_ENST00000417495.3_Splice_Site_p.647_648LP>F|SP140_ENST00000343805.6_Splice_Site_p.701_702LP>F	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	761					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCATTTACGGCCTCTTTCTTTTGCAGAAATGTGAGTT	0.427																																																0			2																																								230884113	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2284-1GCCTCTTTCTTTTGCAGA>-	2.37:g.231175852_231175869delGCCTCTTTCTTTTGCAGA			230884096	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Splice_Site	DEL	-	e25-1	ENST00000392045.3	37	c.2284-17_2284-1	CCDS42831.1	2																																																																																			(deletion:intron[230883811,230884112], cds_exon[230884113,230884190])	-		0.427	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	protein_coding	OTTHUMT00000332015.1	GCCTCTTTCTTTTGCAGA	NM_007237	In_Frame_Del	230884113	+1	no_errors	NM_007237	genbank	human	validated	54_36p	splice_site_del	DEL	0.002:0.002:0.004:0.011:0.083:0.288:0.526:0.787:0.867:0.937:0.959:0.980:0.986:0.993:0.998:1.000:1.000:1.000	-
