#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA8	10351	genome.wustl.edu	37	17	66887638	66887638	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr17:66887638C>A	ENST00000269080.2	-	22	3153	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1046Y|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1046Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1006					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTTATAATCATCGATGCTG	0.353																																																	0													106.0	94.0	98.0					17																	66887638		2203	4300	6503	SO:0001583	missense	10351			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3016G>T	17.37:g.66887638C>A	ENSP00000269080:p.Asp1006Tyr		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1046Y	ENST00000269080.2	37	c.3136	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859565	0.71834	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87729	-2.29;-2.29	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000057	D	0.94122	0.8115	M	0.86651	2.83	0.49798	D	0.999826	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.94819	0.7985	10	0.87932	D	0	.	16.0763	0.80971	0.0:1.0:0.0:0.0	.	985;1046;1046;1006	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	Y	1006;1046;985	ENSP00000269080:D1006Y;ENSP00000402814:D1046Y	ENSP00000269080:D1006Y	D	-	1	0	ABCA8	64399233	0.977000	0.34250	0.787000	0.31911	0.978000	0.69477	4.366000	0.59492	2.648000	0.89879	0.650000	0.86243	GAT	ABCA8	-	NULL		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	C	NM_007168		66887638	-1	no_errors	ENST00000430352	ensembl	human	known	70_37	missense	SNP	0.898	A
ATP1B4	23439	genome.wustl.edu	37	X	119509335	119509335	+	Missense_Mutation	SNP	G	G	A	rs376908557		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chrX:119509335G>A	ENST00000218008.3	+	5	728	c.671G>A	c.(670-672)cGc>cAc	p.R224H	ATP1B4_ENST00000361319.3_Missense_Mutation_p.R220H|ATP1B4_ENST00000539306.1_Missense_Mutation_p.R181H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAATTTAAGCGCTCCTTCCTA	0.483																																																	0								G	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	163.0	143.0	150.0		671,659	5.2	1.0	X		150	1,6727		0,1,2427,1872	no	missense,missense	ATP1B4	NM_001142447.2,NM_012069.4	29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	224/358,220/354	119509335	1,10562	2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.671G>A	X.37:g.119509335G>A	ENSP00000218008:p.Arg224His		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.R224H	ENST00000218008.3	37	c.671	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844665	0.71488	0.0	1.49E-4	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.33216	1.42;1.42;1.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.999;0.999	T	0.64478	-0.6398	10	0.14656	T	0.56	-12.0358	16.8493	0.85989	0.0:0.0:1.0:0.0	.	181;189;224;220	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	H	224;220;181	ENSP00000218008:R224H;ENSP00000355346:R220H;ENSP00000443334:R181H	ENSP00000218008:R224H	R	+	2	0	ATP1B4	119393363	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	9.394000	0.97261	2.183000	0.69458	0.600000	0.82982	CGC	ATP1B4	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	G	NM_001142447		119509335	+1	no_errors	ENST00000218008	ensembl	human	known	70_37	missense	SNP	1.000	A
BCAN	63827	genome.wustl.edu	37	1	156617459	156617459	+	Missense_Mutation	SNP	C	C	T	rs377328649		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:156617459C>T	ENST00000329117.5	+	4	962	c.626C>T	c.(625-627)tCg>tTg	p.S209L	BCAN_ENST00000361588.5_Missense_Mutation_p.S209L|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	209	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTGGCTGTCGGATCAGACC	0.647																																																	0													77.0	81.0	80.0					1																	156617459		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.626C>T	1.37:g.156617459C>T	ENSP00000331210:p.Ser209Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.S209L	ENST00000329117.5	37	c.626	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404420	0.83230	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.28	4.28	0.50868	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.229124	0.28187	N	0.016270	T	0.13670	0.0331	L	0.58510	1.815	0.50313	D	0.999863	P;D	0.57257	0.947;0.979	P;P	0.52598	0.453;0.703	T	0.01238	-1.1409	10	0.87932	D	0	-4.6703	15.4434	0.75208	0.0:1.0:0.0:0.0	.	209;209	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	209;209;107;209	ENSP00000331210:S209L;ENSP00000389898:S209L;ENSP00000401709:S107L;ENSP00000354925:S209L	ENSP00000331210:S209L	S	+	2	0	BCAN	154884083	0.366000	0.25014	0.981000	0.43875	0.976000	0.68499	4.729000	0.62008	2.196000	0.70406	0.455000	0.32223	TCG	BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	C	NM_021948		156617459	+1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.963	T
CACNA1E	777	genome.wustl.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:181745324G>A	ENST00000367573.2	+	38	5227	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1724K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1743	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607																																																	0													134.0	137.0	136.0					1																	181745324		1986	4168	6154	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5227G>A	1.37:g.181745324G>A	ENSP00000356545:p.Glu1743Lys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.E1743K	ENST00000367573.2	37	c.5227	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.255682	0.97417	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96716	-3.99;-3.99;-4.1;-3.99;-4.07;-4.09;-4.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.89715	3.055	0.80722	D	1	P;D;D	0.89917	0.937;0.989;1.0	P;D;D	0.79108	0.723;0.941;0.992	D	0.99129	1.0852	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1724;1743;1743	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	K	1743;1724;1694;1675;1350;1724;1743	ENSP00000356542:E1743K;ENSP00000434814:E1724K;ENSP00000350183:E1694K;ENSP00000351101:E1675K;ENSP00000356539:E1350K;ENSP00000353222:E1724K;ENSP00000356545:E1743K	ENSP00000350183:E1694K	E	+	1	0	CACNA1E	180011947	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	9.731000	0.98807	2.769000	0.95229	0.655000	0.94253	GAG	CACNA1E	-	pfscan_EF_HAND_2		0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181745324	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNG3	10368	genome.wustl.edu	37	16	24358139	24358139	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr16:24358139G>A	ENST00000005284.3	+	2	1497		c.e2+1			NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3						calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TATCTCCTGCGTAAGTTCCCC	0.552																																																	0													68.0	62.0	64.0					16																	24358139		2197	4300	6497	SO:0001630	splice_region_variant	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.295+1G>A	16.37:g.24358139G>A				Splice_Site	SNP	-	e2+1	ENST00000005284.3	37	c.295+1	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896411	0.91962	.	.	ENSG00000006116	ENST00000005284	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNG3	24265640	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.355000	0.97087	2.808000	0.96608	0.655000	0.94253	.	CACNG3	-	-		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	G	NM_006539	Intron	24358139	+1	no_errors	ENST00000005284	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CADPS	8618	genome.wustl.edu	37	3	62556598	62556598	+	Silent	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:62556598G>A	ENST00000383710.4	-	9	1942	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	CADPS_ENST00000283269.9_Silent_p.I531I|CADPS_ENST00000357948.3_Silent_p.I531I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	531	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATTCTTACCGATGGCCCATA	0.393																																																	0													143.0	145.0	145.0					3																	62556598		2203	4300	6503	SO:0001819	synonymous_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1593C>T	3.37:g.62556598G>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I531	ENST00000383710.4	37	c.1593	CCDS46858.1	3																																																																																			CADPS	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394		62556598	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	silent	SNP	1.000	A
CBS	875	genome.wustl.edu	37	21	44488638	44488638	+	Silent	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr21:44488638G>A	ENST00000398165.3	-	4	556	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Silent_p.F99F|CBS_ENST00000359624.3_Silent_p.F99F|CBS_ENST00000398158.1_Silent_p.F99F|CBS_ENST00000544202.1_Silent_p.F11F|CBS_ENST00000352178.5_Silent_p.F99F	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.547																																																	0													102.0	98.0	100.0					21																	44488638		2203	4300	6503	SO:0001819	synonymous_variant	875			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.297C>T	21.37:g.44488638G>A			B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.F99	ENST00000398165.3	37	c.297	CCDS13693.1	21																																																																																			CBS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth		0.547	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	G	NM_000071		44488638	-1	no_errors	ENST00000398168	ensembl	human	known	70_37	silent	SNP	0.047	A
DCHS1	8642	genome.wustl.edu	37	11	6651131	6651131	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr11:6651131C>T	ENST00000299441.3	-	11	5218	c.4807G>A	c.(4807-4809)Gtg>Atg	p.V1603M	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1603	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCGCACCACGGACAGCGCT	0.652																																																	0													39.0	39.0	39.0					11																	6651131		2200	4295	6495	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4807G>A	11.37:g.6651131C>T	ENSP00000299441:p.Val1603Met		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V1603M	ENST00000299441.3	37	c.4807	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165197	0.38217	.	.	ENSG00000166341	ENST00000299441	T	0.01787	4.64	4.95	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.161261	0.28983	N	0.013508	T	0.05914	0.0154	M	0.83384	2.64	0.37530	D	0.91786	D	0.60575	0.988	P	0.54100	0.742	T	0.10917	-1.0609	10	0.59425	D	0.04	.	6.1746	0.20437	0.0:0.6398:0.1495:0.2107	.	1603	Q96JQ0	PCD16_HUMAN	M	1603	ENSP00000299441:V1603M	ENSP00000299441:V1603M	V	-	1	0	DCHS1	6607707	0.211000	0.23529	0.996000	0.52242	0.031000	0.12232	0.721000	0.25911	1.295000	0.44724	0.563000	0.77884	GTG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.652	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6651131	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	0.658	T
DCLK1	9201	genome.wustl.edu	37	13	36396959	36396959	+	Silent	SNP	G	G	A	rs201558028		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr13:36396959G>A	ENST00000360631.3	-	11	1672	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	DCLK1_ENST00000379893.1_Silent_p.D180D|DCLK1_ENST00000255448.4_Silent_p.D487D			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCACTGGCGTCTCTCTCGG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		16405	0.0		0.001	False		,,,				2504	0.0																0								G	,,	0,4406		0,0,2203	211.0	181.0	191.0		540,540,1461	-4.9	0.9	13		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	180/423,180/434,487/730	36396959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1461C>T	13.37:g.36396959G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.D487	ENST00000360631.3	37	c.1461		13																																																																																			DCLK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.507	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	G	NM_004734		36396959	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	silent	SNP	0.961	A
DENND6B	414918	genome.wustl.edu	37	22	50757410	50757410	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr22:50757410C>T	ENST00000413817.3	-	2	271	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	67					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GTCTGTGAGCCGGAAGTCGTT	0.582																																																	0													28.0	32.0	30.0					22																	50757410		2129	4236	6365	SO:0001583	missense	414918			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.200G>A	22.37:g.50757410C>T	ENSP00000391524:p.Arg67Gln		A6X8I5	Missense_Mutation	SNP	pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9	p.R67Q	ENST00000413817.3	37	c.200	CCDS46732.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.78|10.78	1.448272|1.448272	0.26074|0.26074	.|.	.|.	ENSG00000205593|ENSG00000205593	ENST00000433760|ENST00000413817	.|T	.|0.39997	.|1.05	5.02|5.02	-1.05|-1.05	0.10036|0.10036	.|Afi1, N-terminal (1);	.|0.234784	.|0.40818	.|N	.|0.001004	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.24115|0.24115	0.695|0.695	0.31079|0.31079	N|N	0.712184|0.712184	.|B;B	.|0.11235	.|0.004;0.003	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.27502|0.27502	-1.0072|-1.0072	5|10	.|0.15066	.|T	.|0.55	-15.1259|-15.1259	8.8861|8.8861	0.35404|0.35404	0.0:0.4731:0.0:0.5269|0.0:0.4731:0.0:0.5269	.|.	.|67;67	.|Q8NEG7;C9JIV6	.|F116B_HUMAN;.	S|Q	39|67	.|ENSP00000391524:R67Q	.|ENSP00000391524:R67Q	G|R	-|-	1|2	0|0	FAM116B|FAM116B	49099982|49099982	0.983000|0.983000	0.35010|0.35010	0.981000|0.981000	0.43875|0.43875	0.570000|0.570000	0.35934|0.35934	0.500000|0.500000	0.22562|0.22562	-0.367000|-0.367000	0.08052|0.08052	-0.339000|-0.339000	0.08088|0.08088	GGC|CGG	DENND6B	-	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9		0.582	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3	C	NM_001001794		50757410	-1	no_errors	ENST00000413817	ensembl	human	known	70_37	missense	SNP	0.980	T
DGKB	1607	genome.wustl.edu	37	7	14758207	14758207	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:14758207C>T	ENST00000403951.2	-	6	845	c.426G>A	c.(424-426)ctG>ctA	p.L142L	DGKB_ENST00000407950.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L142L|DGKB_ENST00000444700.2_Silent_p.L135L|DGKB_ENST00000402815.1_Silent_p.L142L|DGKB_ENST00000258767.5_Silent_p.L142L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L142L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	142					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAAGCAGAGACAGGTAACAGA	0.448																																																	0													100.0	95.0	96.0					7																	14758207		1895	4122	6017	SO:0001819	synonymous_variant	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.426G>A	7.37:g.14758207C>T			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L142	ENST00000403951.2	37	c.426	CCDS47547.1	7																																																																																			DGKB	-	NULL		0.448	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080		14758207	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	silent	SNP	1.000	T
DLL1	28514	genome.wustl.edu	37	6	170594675	170594675	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr6:170594675C>G	ENST00000366756.3	-	6	1177	c.844G>C	c.(844-846)Ggc>Cgc	p.G282R		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	282	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGAAAAGGCCCCCCCAGCCT	0.602																																																	0													45.0	53.0	50.0					6																	170594675		2203	4300	6503	SO:0001583	missense	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.844G>C	6.37:g.170594675C>G	ENSP00000355718:p.Gly282Arg		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom	p.G282R	ENST00000366756.3	37	c.844	CCDS5313.1	6	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762139	0.89932	.	.	ENSG00000198719	ENST00000366756	T	0.14516	2.5	5.08	5.08	0.68730	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71968	-0.4432	10	0.87932	D	0	.	18.4705	0.90773	0.0:1.0:0.0:0.0	.	282	O00548	DLL1_HUMAN	R	282	ENSP00000355718:G282R	ENSP00000355718:G282R	G	-	1	0	DLL1	170436600	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.755000	0.85180	2.376000	0.81061	0.563000	0.77884	GGC	DLL1	-	smart_EG-like_dom		0.602	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	C			170594675	-1	no_errors	ENST00000366756	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH5	1767	genome.wustl.edu	37	5	13786454	13786454	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:13786454G>A	ENST00000265104.4	-	52	8758	c.8654C>T	c.(8653-8655)aCa>aTa	p.T2885I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2885					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTCAGATGTTTCACCTTT	0.353									Kartagener syndrome																																								0													68.0	69.0	69.0					5																	13786454		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8654C>T	5.37:g.13786454G>A	ENSP00000265104:p.Thr2885Ile		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2885I	ENST00000265104.4	37	c.8654	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714432	0.30413	.	.	ENSG00000039139	ENST00000265104	T	0.23552	1.9	4.72	3.78	0.43462	.	0.369343	0.29451	N	0.012112	T	0.24774	0.0601	L	0.46157	1.445	0.37139	D	0.901633	B	0.17465	0.022	B	0.23275	0.045	T	0.22277	-1.0221	10	0.66056	D	0.02	.	12.8763	0.57991	0.0:0.0:0.7209:0.2791	.	2885	Q8TE73	DYH5_HUMAN	I	2885	ENSP00000265104:T2885I	ENSP00000265104:T2885I	T	-	2	0	DNAH5	13839454	1.000000	0.71417	0.996000	0.52242	0.499000	0.33736	5.464000	0.66719	2.590000	0.87494	0.655000	0.94253	ACA	DNAH5	-	NULL		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13786454	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	0.995	A
AGO1	26523	genome.wustl.edu	37	1	36372633	36372633	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:36372633G>A	ENST00000373204.4	+	12	1708	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	AGO1_ENST00000373206.1_Missense_Mutation_p.V424M	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	499					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGCAGACAGCGTGGAGCCTAT	0.532																																																	0													132.0	107.0	115.0					1																	36372633		2203	4300	6503	SO:0001583	missense	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1495G>A	1.37:g.36372633G>A	ENSP00000362300:p.Val499Met		Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.V499M	ENST00000373204.4	37	c.1495	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184166	0.94885	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.12465	2.68;2.68	5.58	5.58	0.84498	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95004	3.61	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.65553	-0.6140	10	0.87932	D	0	-21.5125	19.5797	0.95461	0.0:0.0:1.0:0.0	.	499	Q9UL18	AGO1_HUMAN	M	424;499	ENSP00000362302:V424M;ENSP00000362300:V499M	ENSP00000362300:V499M	V	+	1	0	EIF2C1	36145220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.623000	0.88846	0.650000	0.86243	GTG	EIF2C1	-	superfamily_RNaseH-like_dom		0.532	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	G			36372633	+1	no_errors	ENST00000373204	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM186B	84070	genome.wustl.edu	37	12	49994424	49994424	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:49994424C>T	ENST00000257894.2	-	4	1160	c.999G>A	c.(997-999)gaG>gaA	p.E333E	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.E243E|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	333						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAACAGAAACCTCAGCCAGGT	0.537																																																	0													144.0	137.0	139.0					12																	49994424		2203	4300	6503	SO:0001819	synonymous_variant	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.999G>A	12.37:g.49994424C>T			B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	NULL	p.E333	ENST00000257894.2	37	c.999	CCDS8788.1	12																																																																																			FAM186B	-	NULL		0.537	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	HGNC	protein_coding	OTTHUMT00000394583.2	C	NM_032130		49994424	-1	no_errors	ENST00000257894	ensembl	human	known	70_37	silent	SNP	0.027	T
PLEKHA3	65977	genome.wustl.edu	37	2	179343117	179343117	+	5'Flank	SNP	A	A	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:179343117A>G	ENST00000234453.5	+	0	0				FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.I37T|FKBP7_ENST00000424785.2_Missense_Mutation_p.I37T	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAAAACTTCTATTTTCACTTC	0.418																																																	0													117.0	123.0	121.0					2																	179343117		2203	4300	6503	SO:0001631	upstream_gene_variant	51661			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343117A>G	Exception_encountered		Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.I37T	ENST00000234453.5	37	c.110	CCDS33336.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409615	0.83340	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.55588	0.51;0.51	5.83	5.83	0.93111	.	0.084247	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64630	1.985	0.80722	D	1	D;B;P	0.59767	0.986;0.383;0.511	P;B;B	0.50970	0.655;0.081;0.187	T	0.65772	-0.6087	10	0.62326	D	0.03	-43.1444	16.1879	0.81964	1.0:0.0:0.0:0.0	.	37;37;37	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	T	37	ENSP00000413152:I37T;ENSP00000415486:I37T	ENSP00000233092:I37T	I	-	2	0	FKBP7	179051363	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.506000	0.90518	2.216000	0.71823	0.459000	0.35465	ATA	FKBP7	-	NULL		0.418	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP7	HGNC	protein_coding	OTTHUMT00000335241.2	A	NM_019091		179343117	-1	no_errors	ENST00000424785	ensembl	human	known	70_37	missense	SNP	1.000	G
FXR1	8087	genome.wustl.edu	37	3	180666162	180666162	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:180666162G>C	ENST00000357559.4	+	5	682	c.298G>C	c.(298-300)Gac>Cac	p.D100H	FXR1_ENST00000468861.1_Missense_Mutation_p.D15H|FXR1_ENST00000491062.1_Missense_Mutation_p.D51H|FXR1_ENST00000480918.1_Missense_Mutation_p.D87H|FXR1_ENST00000305586.7_Missense_Mutation_p.D15H|FXR1_ENST00000445140.2_Missense_Mutation_p.D100H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	100	Agenet-like 2.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGCTGCTTGTGACGCTACTTA	0.299																																																	0													45.0	46.0	46.0					3																	180666162		2202	4300	6502	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.298G>C	3.37:g.180666162G>C	ENSP00000350170:p.Asp100His		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.D100H	ENST00000357559.4	37	c.298	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492897	0.84962	.	.	ENSG00000114416	ENST00000469882;ENST00000484790;ENST00000465551;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918;ENST00000484042	T;T;T;T;T;T;T;T;T;T;T	0.57107	0.46;0.42;0.46;1.33;1.1;0.7;0.62;0.64;0.45;1.1;0.46	5.83	5.83	0.93111	Agenet (1);	0.043727	0.85682	D	0.000000	T	0.74107	0.3673	M	0.75264	2.295	0.80722	D	1	P;D;D;D;D;P	0.69078	0.942;0.997;0.994;0.987;0.981;0.934	D;D;P;P;D;P	0.71414	0.937;0.973;0.875;0.794;0.945;0.85	T	0.75605	-0.3260	10	0.87932	D	0	-15.9108	20.1195	0.97955	0.0:0.0:1.0:0.0	.	87;51;15;15;100;100	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	H	15;15;15;100;15;51;15;100;15;87;104	ENSP00000419793:D15H;ENSP00000417125:D15H;ENSP00000418724:D15H;ENSP00000350170:D100H;ENSP00000307633:D15H;ENSP00000420643:D51H;ENSP00000420515:D15H;ENSP00000388828:D100H;ENSP00000419933:D15H;ENSP00000418097:D87H;ENSP00000417513:D104H	ENSP00000307633:D15H	D	+	1	0	FXR1	182148856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.971000	0.88012	2.759000	0.94783	0.650000	0.86243	GAC	FXR1	-	pfam_Agenet-like_dom		0.299	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180666162	+1	no_errors	ENST00000357559	ensembl	human	known	70_37	missense	SNP	1.000	C
GRM6	2916	genome.wustl.edu	37	5	178418890	178418890	+	Silent	SNP	G	G	A	rs367700792		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:178418890G>A	ENST00000517717.1	-	3	737	c.699C>T	c.(697-699)ttC>ttT	p.F233F	GRM6_ENST00000231188.5_Silent_p.F233F|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	233					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGATCTGAACGAAGGCCTCAA	0.622																																																	0								G		0,4406		0,0,2203	67.0	58.0	61.0		699	0.2	1.0	5		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRM6	NM_000843.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		233/878	178418890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.699C>T	5.37:g.178418890G>A				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.F233	ENST00000517717.1	37	c.699	CCDS4442.1	5																																																																																			GRM6	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.622	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	G			178418890	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	silent	SNP	1.000	A
GSX1	219409	genome.wustl.edu	37	13	28367727	28367727	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr13:28367727G>A	ENST00000302945.2	+	2	485	c.437G>A	c.(436-438)aGc>aAc	p.S146N		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	146					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGCTGCCCAGCAGCAAGAGG	0.597																																																	0													64.0	61.0	62.0					13																	28367727		2203	4300	6503	SO:0001583	missense	219409			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.437G>A	13.37:g.28367727G>A	ENSP00000304331:p.Ser146Asn		Q9UD62	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S146N	ENST00000302945.2	37	c.437	CCDS9326.1	13	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011838	0.35511	.	.	ENSG00000169840	ENST00000302945	D	0.95756	-3.8	4.86	4.86	0.63082	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	L	0.37897	1.145	0.80722	D	1	D	0.58268	0.982	P	0.51657	0.676	D	0.92546	0.6046	10	0.18710	T	0.47	.	17.5873	0.87986	0.0:0.0:1.0:0.0	.	146	Q9H4S2	GSX1_HUMAN	N	146	ENSP00000304331:S146N	ENSP00000304331:S146N	S	+	2	0	GSX1	27265727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.818000	0.62657	2.250000	0.74265	0.561000	0.74099	AGC	GSX1	-	superfamily_Homeodomain-like,pfscan_Homeodomain		0.597	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX1	HGNC	protein_coding	OTTHUMT00000044309.2	G	NM_145657		28367727	+1	no_errors	ENST00000302945	ensembl	human	known	70_37	missense	SNP	1.000	A
HMP19	51617	genome.wustl.edu	37	5	173491307	173491307	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:173491307G>A	ENST00000303177.3	+	3	464	c.202G>A	c.(202-204)Gct>Act	p.A68T	NSG2_ENST00000521585.1_Missense_Mutation_p.A68T|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		68					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCCGAAAATCGCTGAATTTAC	0.478																																																	0													74.0	71.0	72.0					5																	173491307		2203	4300	6503	SO:0001583	missense	51617																														ENST00000303177.3:c.202G>A	5.37:g.173491307G>A	ENSP00000307722:p.Ala68Thr		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.A68T	ENST00000303177.3	37	c.202	CCDS4391.1	5	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806303	0.90623	.	.	ENSG00000170091	ENST00000303177;ENST00000519867;ENST00000521585;ENST00000521278;ENST00000519717	.	.	.	5.69	5.69	0.88448	.	0.058522	0.64402	D	0.000001	T	0.77903	0.4200	L	0.59436	1.845	0.53005	D	0.999965	D	0.76494	0.999	D	0.77004	0.989	T	0.77493	-0.2567	9	0.62326	D	0.03	-14.1312	20.181	0.98201	0.0:0.0:1.0:0.0	.	68	Q9Y328	NSG2_HUMAN	T	68	.	ENSP00000307722:A68T	A	+	1	0	AC011333.1	173423913	1.000000	0.71417	0.958000	0.39756	0.899000	0.52679	7.105000	0.77031	2.840000	0.97914	0.655000	0.94253	GCT	NSG2	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact		0.478	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMP19	Uniprot_genename	protein_coding	OTTHUMT00000252966.2	G			173491307	+1	no_errors	ENST00000303177	ensembl	human	known	70_37	missense	SNP	1.000	A
IL1A	3552	genome.wustl.edu	37	2	113539283	113539283	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:113539283C>T	ENST00000263339.3	-	4	372	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	73					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GTTGCTACTACCACCATGCTC	0.483																																																	0													198.0	178.0	185.0					2																	113539283		2203	4300	6503	SO:0001583	missense	3552			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.217G>A	2.37:g.113539283C>T	ENSP00000263339:p.Val73Ile		Q53QF9|Q7RU02	Missense_Mutation	SNP	pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1	p.V73I	ENST00000263339.3	37	c.217	CCDS2101.1	2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795003	0.31777	.	.	ENSG00000115008	ENST00000263339	T	0.51071	0.72	5.78	-11.6	0.00059	Interleukin-1 propeptide (1);	1.805730	0.02836	N	0.127340	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.07635	-1.0762	10	0.08179	T	0.78	-24.7429	9.4992	0.39006	0.0:0.1638:0.4341:0.4021	.	73	P01583	IL1A_HUMAN	I	73	ENSP00000263339:V73I	ENSP00000263339:V73I	V	-	1	0	IL1A	113255754	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.223000	0.01214	-2.941000	0.00297	-1.799000	0.00621	GTA	IL1A	-	pfam_IL1_propep,prints_InterleukinIL1AB		0.483	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	C	NM_000575		113539283	-1	no_errors	ENST00000263339	ensembl	human	known	70_37	missense	SNP	0.000	T
ITPR1	3708	genome.wustl.edu	37	3	4712441	4712441	+	Missense_Mutation	SNP	G	G	T	rs545433196		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:4712441G>T	ENST00000443694.2	+	17	1990	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C	ITPR1_ENST00000456211.2_Missense_Mutation_p.G664C|ITPR1_ENST00000357086.4_Missense_Mutation_p.G679C|ITPR1_ENST00000354582.6_Missense_Mutation_p.G679C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.G664C|ITPR1_ENST00000423119.2_Missense_Mutation_p.G679C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	679					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAATTTGAAGGTGTCTCTTC	0.428																																																	0													75.0	65.0	68.0					3																	4712441		1872	4119	5991	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1990G>T	3.37:g.4712441G>T	ENSP00000401671:p.Gly664Cys		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G664C	ENST00000443694.2	37	c.1990	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435877	0.43224	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91686	-2.88;-2.89;-2.89;-2.89;-2.89;-2.88	5.1	5.1	0.69264	.	0.282242	0.39759	N	0.001263	D	0.88987	0.6587	N	0.08118	0	0.80722	D	1	P;P;D	0.54397	0.523;0.533;0.966	B;B;P	0.52424	0.401;0.285;0.698	D	0.91371	0.5119	10	0.56958	D	0.05	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	664;679;679	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	C	679;664;679;679;679;664;664	ENSP00000306253:G664C;ENSP00000346595:G679C;ENSP00000405934:G679C;ENSP00000349597:G679C;ENSP00000397885:G664C;ENSP00000401671:G664C	ENSP00000306253:G664C	G	+	1	0	ITPR1	4687441	1.000000	0.71417	0.994000	0.49952	0.157000	0.22087	3.849000	0.55910	2.368000	0.80403	0.655000	0.94253	GGT	ITPR1	-	NULL		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4712441	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	0.989	T
KIAA1958	158405	genome.wustl.edu	37	9	115336810	115336810	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr9:115336810G>T	ENST00000337530.6	+	2	746	c.450G>T	c.(448-450)gaG>gaT	p.E150D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E150D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E150D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	150										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGGTTTGTGAGTCTTCTGTTA	0.458																																																	0													165.0	162.0	163.0					9																	115336810		2203	4300	6503	SO:0001583	missense	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.450G>T	9.37:g.115336810G>T	ENSP00000336940:p.Glu150Asp		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.E150D	ENST00000337530.6	37	c.450	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156501	0.57259	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.44083	0.93;0.93;0.93	6.07	1.15	0.20763	.	0.000000	0.64402	D	0.000001	T	0.44891	0.1315	N	0.24115	0.695	0.43448	D	0.995632	D;D	0.69078	0.997;0.984	D;D	0.72625	0.978;0.956	T	0.28870	-1.0030	10	0.51188	T	0.08	-13.2038	10.2293	0.43245	0.3197:0.0:0.6803:0.0	.	150;150	B7ZKW6;Q8N8K9	.;K1958_HUMAN	D	150	ENSP00000336940:E150D;ENSP00000363362:E150D;ENSP00000440504:E150D	ENSP00000336940:E150D	E	+	3	2	KIAA1958	114376631	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.371000	0.34250	0.157000	0.19338	0.655000	0.94253	GAG	KIAA1958	-	NULL		0.458	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	G	NM_133465		115336810	+1	no_errors	ENST00000536272	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113379802	113379802	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:113379802C>T	ENST00000478658.1	-	5	744	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	KIAA2018_ENST00000316407.4_Missense_Mutation_p.E243K|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	243						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATTCGCTTTCAGAGGTGGGA	0.478																																																	0													56.0	55.0	55.0					3																	113379802		1928	4138	6066	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.727G>A	3.37:g.113379802C>T	ENSP00000420721:p.Glu243Lys		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E243K	ENST00000478658.1	37	c.727	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001182	0.54254	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17054	2.3;2.3	5.75	5.75	0.90469	.	0.159876	0.44902	D	0.000418	T	0.32376	0.0827	L	0.27053	0.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	T	0.02917	-1.1094	10	0.54805	T	0.06	-13.3464	19.9235	0.97095	0.0:1.0:0.0:0.0	.	243	Q68DE3	K2018_HUMAN	K	243	ENSP00000320794:E243K;ENSP00000420721:E243K	ENSP00000320794:E243K	E	-	1	0	KIAA2018	114862492	0.971000	0.33674	0.964000	0.40570	0.896000	0.52359	2.340000	0.43974	2.702000	0.92279	0.655000	0.94253	GAA	KIAA2018	-	NULL		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113379802	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	0.998	T
LEPRE1	64175	genome.wustl.edu	37	1	43223463	43223464	+	Frame_Shift_Ins	INS	-	-	C	rs202234531	byFrequency	TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:43223463_43223464insC	ENST00000296388.5	-	5	1121_1122	c.1070_1071insG	c.(1069-1071)ggcfs	p.G357fs	LEPRE1_ENST00000236040.4_Frame_Shift_Ins_p.G357fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.G357fs			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	357					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCACGGGGGCCGATGGATCT	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1071dupG	1.37:g.43223465_43223465dupC	ENSP00000296388:p.Gly357fs	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Ins	INS	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R359fs	ENST00000296388.5	37	c.1071_1070	CCDS472.2	1																																																																																			LEPRE1	-	NULL		0.535	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	NM_022356		43223464	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	frame_shift_ins	INS	0.023:0.020	C
LRRTM1	347730	genome.wustl.edu	37	2	80529638	80529638	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:80529638A>G	ENST00000295057.3	-	2	1963	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.I436T|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	436					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAAGGAGAAGATGAGGGCCAT	0.627										HNSCC(69;0.2)																																							0													100.0	88.0	92.0					2																	80529638		2203	4300	6503	SO:0001583	missense	347730			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1307T>C	2.37:g.80529638A>G	ENSP00000295057:p.Ile436Thr		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I436T	ENST00000295057.3	37	c.1307	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461730	0.63513	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44482	0.92;0.92	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	T	0.47395	0.1443	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	T	0.36720	-0.9736	9	.	.	.	.	15.031	0.71708	1.0:0.0:0.0:0.0	.	436	Q86UE6	LRRT1_HUMAN	T	436	ENSP00000295057:I436T;ENSP00000386646:I436T	.	I	-	2	0	LRRTM1	80383149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.930000	0.55929	0.459000	0.35465	ATC	LRRTM1	-	NULL		0.627	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	A	NM_178839		80529638	-1	no_errors	ENST00000295057	ensembl	human	known	70_37	missense	SNP	1.000	G
MARK2	2011	genome.wustl.edu	37	11	63670179	63670179	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr11:63670179C>T	ENST00000509502.2	+	13	1702	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	MARK2_ENST00000361128.5_Silent_p.A447A|MARK2_ENST00000513765.2_Silent_p.A414A|MARK2_ENST00000315032.8_Silent_p.A447A|MARK2_ENST00000402010.2_Silent_p.A447A|MARK2_ENST00000425897.2_Silent_p.A413A|MARK2_ENST00000377809.4_Silent_p.A447A|MARK2_ENST00000408948.3_Silent_p.A413A|MARK2_ENST00000502399.3_Silent_p.A446A|MARK2_ENST00000350490.7_Silent_p.A446A|MARK2_ENST00000377810.3_Silent_p.A413A|MARK2_ENST00000508192.1_Silent_p.A446A|MARK2_ENST00000413835.2_Silent_p.A447A	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCGGAAAGCCAGCAGCACAG	0.612																																																	0													46.0	48.0	47.0					11																	63670179		2201	4297	6498	SO:0001819	synonymous_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1239C>T	11.37:g.63670179C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A447	ENST00000509502.2	37	c.1341	CCDS41665.1	11																																																																																			MARK2	-	NULL		0.612	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	C	NM_017490		63670179	+1	no_errors	ENST00000402010	ensembl	human	known	70_37	silent	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9076980	9076980	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:9076980G>A	ENST00000397910.4	-	3	10669	c.10466C>T	c.(10465-10467)aCa>aTa	p.T3489I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3490	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGAGATGTGACAGATGA	0.502																																																	0													119.0	114.0	116.0					19																	9076980		2092	4212	6304	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10466C>T	19.37:g.9076980G>A	ENSP00000381008:p.Thr3489Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T3489I	ENST00000397910.4	37	c.10466	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.978	-0.007021	0.07773	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.13	-0.248	0.13015	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.17979	0.02	T	0.42766	-0.9432	8	0.87932	D	0	.	4.2896	0.10872	0.4112:0.0:0.5888:0.0	.	3489	B5ME49	.	I	3489	ENSP00000381008:T3489I	ENSP00000381008:T3489I	T	-	2	0	MUC16	8937980	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	0.254000	0.18314	-0.007000	0.14345	0.313000	0.20887	ACA	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9076980	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100675495	100675495	+	Silent	SNP	A	A	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:100675495A>G	ENST00000306151.4	+	3	862	c.798A>G	c.(796-798)tcA>tcG	p.S266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	266	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCCTGTCAAACTCAGCTC	0.498																																																	0													143.0	143.0	143.0					7																	100675495		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.798A>G	7.37:g.100675495A>G			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S266	ENST00000306151.4	37	c.798	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	A	NM_001040105		100675495	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.003	G
MYO7B	4648	genome.wustl.edu	37	2	128324316	128324316	+	Silent	SNP	C	C	T	rs370063306		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:128324316C>T	ENST00000409816.2	+	4	416	c.384C>T	c.(382-384)ggC>ggT	p.G128G	MYO7B_ENST00000389524.4_Silent_p.G128G|MYO7B_ENST00000428314.1_Silent_p.G128G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	128	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G128G(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCATATGGGCGAGCTGCCCC	0.587																																																	2	Substitution - coding silent(2)	lung(2)						C		0,4104		0,0,2052	39.0	44.0	42.0		384	-9.0	0.5	2		42	1,8401		0,1,4200	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6252	TT,TC,CC		0.0119,0.0,0.0080		128/2117	128324316	1,12505	2052	4201	6253	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.384C>T	2.37:g.128324316C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.G128	ENST00000409816.2	37	c.384	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128324316	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.039	T
NFS1	9054	genome.wustl.edu	37	20	34263075	34263075	+	Silent	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr20:34263075G>A	ENST00000374092.4	-	8	910	c.840C>T	c.(838-840)gcC>gcT	p.A280A	NFS1_ENST00000397425.1_Silent_p.A220A|NFS1_ENST00000540053.1_Silent_p.A78A|NFS1_ENST00000541387.1_Silent_p.A229A|NFS1_ENST00000374085.1_Silent_p.A220A|NFS1_ENST00000498084.1_5'Flank|RP1-309K20.6_ENST00000541176.2_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	280					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CACTCTGCAGGGCCTCCACAC	0.582																																																	0													25.0	26.0	26.0					20																	34263075		2203	4298	6501	SO:0001819	synonymous_variant	9054			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.840C>T	20.37:g.34263075G>A			B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase	p.A280	ENST00000374092.4	37	c.840	CCDS13262.1	20																																																																																			NFS1	-	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase		0.582	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFS1	HGNC	protein_coding	OTTHUMT00000078936.4	G	NM_021100		34263075	-1	no_errors	ENST00000374092	ensembl	human	known	70_37	silent	SNP	1.000	A
NGF	4803	genome.wustl.edu	37	1	115829246	115829246	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:115829246C>T	ENST00000369512.2	-	3	339	c.171G>A	c.(169-171)gcG>gcA	p.A57A	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	57					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CAGCTATCGCCGCTGCCGGGG	0.617																																																	0													53.0	51.0	52.0					1																	115829246		2203	4300	6503	SO:0001819	synonymous_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.171G>A	1.37:g.115829246C>T			A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.A57	ENST00000369512.2	37	c.171	CCDS882.1	1																																																																																			NGF	-	pirsf_Nerve_growth_factor-like		0.617	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	C	NM_002506		115829246	-1	no_errors	ENST00000369512	ensembl	human	known	70_37	silent	SNP	0.000	T
OSBPL8	114882	genome.wustl.edu	37	12	76778126	76778126	+	Missense_Mutation	SNP	G	G	A	rs549365342		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:76778126G>A	ENST00000261183.3	-	15	2017	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	OSBPL8_ENST00000393249.2_Missense_Mutation_p.S471F|OSBPL8_ENST00000393250.4_Missense_Mutation_p.S471F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	513					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGGATGATGGGACACCTATTA	0.289																																																	0													80.0	70.0	74.0					12																	76778126		2203	4300	6503	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1538C>T	12.37:g.76778126G>A	ENSP00000261183:p.Ser513Phe		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S513F	ENST00000261183.3	37	c.1538	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	30	5.052452	0.93793	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.81	5.81	0.92471	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90088	0.4175	10	0.87932	D	0	-7.8749	20.0833	0.97789	0.0:0.0:1.0:0.0	.	488;513	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	471;513;498;471;513;513;488	ENSP00000376939:S471F;ENSP00000261183:S513F;ENSP00000376940:S471F;ENSP00000450238:S513F;ENSP00000447893:S488F	ENSP00000261183:S513F	S	-	2	0	OSBPL8	75302257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	TCC	OSBPL8	-	pfam_Oxysterol-bd		0.289	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	G	NM_020841		76778126	-1	no_errors	ENST00000261183	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHB12	56124	genome.wustl.edu	37	5	140590433	140590433	+	Missense_Mutation	SNP	C	C	T	rs200444693	byFrequency	TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:140590433C>T	ENST00000239450.2	+	1	2143	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R315C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCCTCCGCGCTCGGCCAC	0.731																																																	0													13.0	16.0	15.0					5																	140590433		1999	3896	5895	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1954C>T	5.37:g.140590433C>T	ENSP00000239450:p.Arg652Cys		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R652C	ENST00000239450.2	37	c.1954	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205581	0.39003	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.55234	0.53;0.53	3.77	1.83	0.25207	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68054	0.2959	M	0.82630	2.6	0.39140	D	0.962019	D	0.76494	0.999	D	0.65140	0.932	T	0.70454	-0.4867	9	0.62326	D	0.03	.	8.3125	0.32080	0.1557:0.7529:0.0:0.0914	.	652	Q9Y5F1	PCDBC_HUMAN	C	315;652;272	ENSP00000440199:R315C;ENSP00000239450:R652C	ENSP00000239450:R652C	R	+	1	0	PCDHB12	140570617	0.001000	0.12720	0.775000	0.31657	0.820000	0.46376	1.384000	0.34396	0.677000	0.31305	0.479000	0.44913	CGC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.731	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140590433	+1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.879	T
PLIN4	729359	genome.wustl.edu	37	19	4511413	4511413	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:4511413C>T	ENST00000301286.3	-	3	2516	c.2517G>A	c.(2515-2517)acG>acA	p.T839T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	839	27 X 33 AA approximate tandem repeat.			GLKTTQNIA -> SVDTTKTVL (in Ref. 2; BAB67774). {ECO:0000305}.		cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TATTTTGGGTCGTTTTCAGCC	0.607																																																	0													74.0	88.0	83.0					19																	4511413		1925	4174	6099	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2517G>A	19.37:g.4511413C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T839	ENST00000301286.3	37	c.2517	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.607	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4511413	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.005	T
PML	5371	genome.wustl.edu	37	15	74315539	74315539	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr15:74315539C>T	ENST00000268058.3	+	3	1069	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	PML_ENST00000569477.1_Missense_Mutation_p.R325C|PML_ENST00000435786.2_Missense_Mutation_p.R325C|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.R325C|PML_ENST00000567543.1_Missense_Mutation_p.R325C|PML_ENST00000395132.2_Missense_Mutation_p.R325C|PML_ENST00000354026.6_Missense_Mutation_p.R325C|PML_ENST00000268059.6_Missense_Mutation_p.R325C|PML_ENST00000563500.1_Missense_Mutation_p.R325C|PML_ENST00000359928.4_Missense_Mutation_p.R325C|PML_ENST00000564428.1_Missense_Mutation_p.R325C|PML_ENST00000565898.1_Missense_Mutation_p.R325C|PML_ENST00000436891.3_Missense_Mutation_p.R325C|PML_ENST00000569965.1_Missense_Mutation_p.R325C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	325					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGTGCTGCAGCGCATCCGCAC	0.692			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													19.0	23.0	22.0					15																	74315539		2191	4283	6474	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.973C>T	15.37:g.74315539C>T	ENSP00000268058:p.Arg325Cys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R325C	ENST00000268058.3	37	c.973	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993699	0.74703	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.50001	0.76	5.06	4.08	0.47627	.	0.096407	0.41294	D	0.000919	T	0.63200	0.2491	M	0.68593	2.085	0.48395	D	0.999643	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;1.0;0.831;1.0;1.0;0.998;1.0;1.0;0.999;0.999	T	0.64812	-0.6319	10	0.59425	D	0.04	-43.4978	10.0394	0.42148	0.2873:0.7127:0.0:0.0	.	325;275;325;325;325;325;325;325;325;325;325;325;328	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	C	325	ENSP00000268058:R325C	ENSP00000268058:R325C	R	+	1	0	PML	72102592	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.044000	0.30329	2.350000	0.79820	0.462000	0.41574	CGC	PML	-	pfam_DUF3583		0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	C	NM_002675		74315539	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR2J4	84820	genome.wustl.edu	37	7	44009379	44009379	+	RNA	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:44009379C>T	ENST00000427076.1	-	0	1151				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GGCCCCTGGGCGCACTTCCAG	0.682																																																	0																																												84820					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44009379C>T				RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-		0.682	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	POLR2J4	HGNC	processed_transcript	OTTHUMT00000473169.1	C	NR_003655		44009379	-1	no_errors	ENST00000427076	ensembl	human	known	70_37	rna	SNP	0.299	T
RASGEF1A	221002	genome.wustl.edu	37	10	43692548	43692548	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr10:43692548C>T	ENST00000395809.1	-	11	3731		c.e11-1		RASGEF1A_ENST00000374459.1_Splice_Site|RASGEF1A_ENST00000395810.1_Splice_Site			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A						cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCAGAATTTCTGAAGGGAGC	0.498																																																	0													137.0	126.0	130.0					10																	43692548		2203	4300	6503	SO:0001630	splice_region_variant	221002			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1225-1G>A	10.37:g.43692548C>T			Q8TBF1	Splice_Site	SNP	-	e10-1	ENST00000395809.1	37	c.1225-1	CCDS7202.2	10	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201728	0.79015	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2083	0.89861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGEF1A	43012554	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.312000	0.78968	2.358000	0.79984	0.655000	0.94253	.	RASGEF1A	-	-		0.498	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	C	NM_145313	Intron	43692548	-1	no_errors	ENST00000395809	ensembl	human	known	70_37	splice_site	SNP	1.000	T
RNF123	63891	genome.wustl.edu	37	3	49758728	49758728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr3:49758728C>A	ENST00000327697.6	+	39	4079	c.3935C>A	c.(3934-3936)tCa>tAa	p.S1312*	RNF123_ENST00000433785.1_Nonsense_Mutation_p.S424*|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1312					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTACCTCCTCAGCTGCCTAG	0.547																																																	0													215.0	218.0	217.0					3																	49758728		2203	4300	6503	SO:0001587	stop_gained	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3935C>A	3.37:g.49758728C>A	ENSP00000328287:p.Ser1312*		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S1312*	ENST00000327697.6	37	c.3935	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.545425	0.99201	.	.	ENSG00000164068	ENST00000327697;ENST00000433785	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.33388	D	0.575756	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	16.3865	0.83505	0.0:1.0:0.0:0.0	.	.	.	.	X	1312;424	.	ENSP00000328287:S1312X	S	+	2	0	RNF123	49733732	0.877000	0.30153	0.996000	0.52242	0.531000	0.34715	1.564000	0.36375	2.489000	0.83994	0.655000	0.94253	TCA	RNF123	-	NULL		0.547	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	C	NM_022064		49758728	+1	no_errors	ENST00000327697	ensembl	human	known	70_37	nonsense	SNP	0.997	A
RRBP1	6238	genome.wustl.edu	37	20	17596583	17596583	+	Silent	SNP	G	G	A	rs146359410		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr20:17596583G>A	ENST00000377813.1	-	22	4242	c.3939C>T	c.(3937-3939)gcC>gcT	p.A1313A	RRBP1_ENST00000246043.4_Silent_p.A1313A|RRBP1_ENST00000455029.2_Silent_p.A654A|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Silent_p.A880A|RRBP1_ENST00000360807.4_Silent_p.A880A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1313					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCTCAAACTCGGCCGTGAGCT	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0																0								G	,	2,4404	4.2+/-10.8	0,2,2201	72.0	57.0	62.0		2640,2640	-10.3	0.0	20	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RRBP1	NM_001042576.1,NM_004587.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	880/978,880/978	17596583	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3939C>T	20.37:g.17596583G>A			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.A1313	ENST00000377813.1	37	c.3939		20																																																																																			RRBP1	-	NULL		0.637	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17596583	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	silent	SNP	0.000	A
RUSC2	9853	genome.wustl.edu	37	9	35560823	35560823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr9:35560823C>T	ENST00000455600.1	+	10	4755	c.4186C>T	c.(4186-4188)Cag>Tag	p.Q1396*	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1396						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGAAAAGCCCAGCGGGAGGC	0.642																																																	0													15.0	15.0	15.0					9																	35560823		2201	4292	6493	SO:0001587	stop_gained	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4186C>T	9.37:g.35560823C>T	ENSP00000393922:p.Gln1396*		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Nonsense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.Q1396*	ENST00000455600.1	37	c.4186	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.546544	0.98352	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	.	.	.	5.24	4.33	0.51752	.	0.330721	0.32970	N	0.005432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-5.0403	14.1906	0.65635	0.1508:0.8492:0.0:0.0	.	.	.	.	X	1396	.	ENSP00000355177:Q1396X	Q	+	1	0	RUSC2	35550823	0.977000	0.34250	0.973000	0.42090	0.631000	0.37964	3.116000	0.50399	1.182000	0.42928	0.655000	0.94253	CAG	RUSC2	-	NULL		0.642	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	C	XM_048462		35560823	+1	no_errors	ENST00000361226	ensembl	human	known	70_37	nonsense	SNP	0.068	T
SEMA6A	57556	genome.wustl.edu	37	5	115783191	115783192	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:115783191_115783192insT	ENST00000343348.6	-	19	2997_2998	c.2210_2211insA	c.(2209-2211)aacfs	p.N737fs	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.N164fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.N754fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.N214fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.N116fs|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.N737fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	737					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTTGGCCGTGTTGCCGGGAGT	0.614																																																	0																																										SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2211dupA	5.37:g.115783193_115783193dupT	ENSP00000345512:p.Asn737fs		Q9P2H9	Frame_Shift_Ins	INS	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.N754fs	ENST00000343348.6	37	c.2262_2261	CCDS47256.1	5																																																																																			SEMA6A	-	NULL		0.614	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	NM_020796		115783192	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	frame_shift_ins	INS	0.997:0.990	T
SLC10A7	84068	genome.wustl.edu	37	4	147247123	147247123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr4:147247123delA	ENST00000507030.1	-	6	460	c.461delT	c.(460-462)ctgfs	p.L156fs	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Frame_Shift_Del_p.L156fs|SLC10A7_ENST00000432059.2_Frame_Shift_Del_p.L143fs|SLC10A7_ENST00000335472.7_Frame_Shift_Del_p.L156fs			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	156					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAAGCAGCAGGAGCAGGGG	0.333																																																	0													48.0	49.0	49.0					4																	147247123		2203	4300	6503	SO:0001589	frameshift_variant	84068			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.461delT	4.37:g.147247123delA	ENSP00000421275:p.Leu156fs		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Frame_Shift_Del	DEL	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.L154fs	ENST00000507030.1	37	c.461	CCDS34073.1	4																																																																																			SLC10A7	-	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr		0.333	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	A	NM_032128		147247123	-1	no_errors	ENST00000394062	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SMARCAD1	56916	genome.wustl.edu	37	4	95155109	95155109	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr4:95155109G>A	ENST00000354268.4	+	4	446	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E125K			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	125					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTAGTTCTGAGCCATCTGA	0.343																																																	0													53.0	54.0	54.0					4																	95155109		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.373G>A	4.37:g.95155109G>A	ENSP00000346217:p.Glu125Lys		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E125K	ENST00000354268.4	37	c.373	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688040	0.68271	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15256	2.44;2.44;2.44	5.81	5.81	0.92471	.	0.000000	0.39210	N	0.001438	T	0.28267	0.0698	N	0.24115	0.695	0.80722	D	1	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.01464	-1.1348	10	0.62326	D	0.03	-17.9725	15.5785	0.76414	0.0:0.0:1.0:0.0	.	125;125	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	K	125	ENSP00000351947:E125K;ENSP00000415576:E125K;ENSP00000346217:E125K	ENSP00000346217:E125K	E	+	1	0	SMARCAD1	95374132	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.715000	0.61909	2.736000	0.93811	0.655000	0.94253	GAG	SMARCAD1	-	NULL		0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95155109	+1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	A
SMARCC2	6601	genome.wustl.edu	37	12	56575341	56575341	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr12:56575341C>A	ENST00000267064.4	-	10	967	c.881G>T	c.(880-882)gGa>gTa	p.G294V	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G294V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G294V|SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000394023.3_Missense_Mutation_p.G294V|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTTATAGTTTCCCCCCTTCTT	0.512																																																	0													102.0	98.0	100.0					12																	56575341		2203	4300	6503	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.881G>T	12.37:g.56575341C>A	ENSP00000267064:p.Gly294Val		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.G294V	ENST00000267064.4	37	c.881	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343317	0.41498	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.44881	0.91;0.92;0.91	4.19	4.19	0.49359	.	0.295374	0.31279	N	0.007939	T	0.29817	0.0745	N	0.12569	0.235	0.58432	D	0.999997	P;P;P;P;P	0.52061	0.845;0.95;0.917;0.917;0.904	B;P;B;B;P	0.46718	0.326;0.525;0.326;0.326;0.525	T	0.03840	-1.0999	10	0.38643	T	0.18	-16.6451	12.3096	0.54922	0.0:0.828:0.1719:0.0	.	183;294;299;294;294	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	294	ENSP00000449396:G294V;ENSP00000302919:G294V;ENSP00000267064:G294V	ENSP00000267064:G294V	G	-	2	0	SMARCC2	54861608	0.518000	0.26234	0.998000	0.56505	0.982000	0.71751	2.814000	0.48010	2.620000	0.88729	0.561000	0.74099	GGA	SMARCC2	-	superfamily_Chromodomain-like		0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	C			56575341	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	missense	SNP	1.000	A
SRCAP	10847	genome.wustl.edu	37	16	30748554	30748554	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr16:30748554G>A	ENST00000262518.4	+	34	7578	c.7193G>A	c.(7192-7194)cGt>cAt	p.R2398H	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2336H|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2240H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2398					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCAGTGAGCGTCTTCGTGGA	0.632																																																	0													63.0	64.0	63.0					16																	30748554		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7193G>A	16.37:g.30748554G>A	ENSP00000262518:p.Arg2398His		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R2398H	ENST00000262518.4	37	c.7193	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736318	0.49045	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94046	-3.19;-3.27;-3.34	4.54	4.54	0.55810	.	0.378703	0.18347	N	0.143987	D	0.92506	0.7620	N	0.08118	0	0.26732	N	0.970573	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.87674	0.2543	10	0.66056	D	0.02	-0.2577	16.2841	0.82710	0.0:0.0:1.0:0.0	.	2336;2398	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	H	2398;2336;2240	ENSP00000262518:R2398H;ENSP00000378499:R2336H;ENSP00000343042:R2240H	ENSP00000262518:R2398H	R	+	2	0	SRCAP	30656055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.319000	0.79040	2.363000	0.80096	0.558000	0.71614	CGT	SRCAP	-	NULL		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30748554	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	A
STX6	10228	genome.wustl.edu	37	1	180974431	180974431	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:180974431G>C	ENST00000258301.5	-	2	441	c.204C>G	c.(202-204)atC>atG	p.I68M	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	68					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						AAAGGATATTGATGGTTTCAT	0.423																																																	0													175.0	171.0	173.0					1																	180974431		2203	4300	6503	SO:0001630	splice_region_variant	10228			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.205+1C>G	1.37:g.180974431G>C			B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.I68M	ENST00000258301.5	37	c.204	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851236	0.71719	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.57	5.57	0.84162	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.049450	0.85682	D	0.000000	T	0.77837	0.4190	M	0.91249	3.19	0.44635	D	0.997617	D	0.76494	0.999	D	0.79108	0.992	D	0.85581	0.1240	8	0.87932	D	0	-3.97	7.6697	0.28451	0.1997:0.0:0.8003:0.0	.	68	O43752	STX6_HUMAN	M	68	.	ENSP00000258301:I68M	I	-	3	3	STX6	179241054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.659000	0.46741	2.613000	0.88420	0.650000	0.86243	ATC	STX6	-	pfam_Syntaxin-6_N,superfamily_t-SNARE		0.423	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	G	NM_005819	Missense_Mutation	180974431	-1	no_errors	ENST00000258301	ensembl	human	known	70_37	missense	SNP	1.000	C
SULT4A1	25830	genome.wustl.edu	37	22	44234843	44234843	+	Silent	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr22:44234843G>A	ENST00000330884.4	-	4	532	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SULT4A1_ENST00000249130.5_Silent_p.L138L|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	138					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GACACCACCAGATCCTTGGGG	0.557																																																	0													126.0	93.0	104.0					22																	44234843		2203	4300	6503	SO:0001819	synonymous_variant	25830			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.412C>T	22.37:g.44234843G>A			B2R7N3|O43728	Silent	SNP	pfam_Sulfotransferase_dom	p.L138	ENST00000330884.4	37	c.412	CCDS14051.1	22																																																																																			SULT4A1	-	pfam_Sulfotransferase_dom		0.557	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	G	NM_014351		44234843	-1	no_errors	ENST00000330884	ensembl	human	known	70_37	silent	SNP	1.000	A
SUSD4	55061	genome.wustl.edu	37	1	223396682	223396682	+	Silent	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr1:223396682C>T	ENST00000343846.3	-	7	1986	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	SUSD4_ENST00000484758.2_Silent_p.E382E|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.E451E|SUSD4_ENST00000454695.2_Silent_p.E291E|SUSD4_ENST00000366878.4_Silent_p.E451E			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	451						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGGGTGCTCTCTTGGCACC	0.582																																																	0													62.0	69.0	67.0					1																	223396682		2090	4220	6310	SO:0001819	synonymous_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1353G>A	1.37:g.223396682C>T			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E451	ENST00000343846.3	37	c.1353	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330810	0.01298	.	.	ENSG00000143502	ENST00000271787	.	.	.	5.16	0.342	0.15996	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28586	-1.0039	5	0.14252	T	0.57	-11.0703	4.0822	0.09931	0.1751:0.4513:0.0:0.3735	.	.	.	.	K	226	.	ENSP00000271787:R226K	R	-	2	0	SUSD4	221463305	0.000000	0.05858	0.179000	0.23059	0.014000	0.08584	-0.092000	0.11129	0.153000	0.19213	-0.136000	0.14681	AGA	SUSD4	-	NULL		0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223396682	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	silent	SNP	0.037	T
TENM2	57451	genome.wustl.edu	37	5	167645602	167645602	+	Missense_Mutation	SNP	C	C	T	rs534289475		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr5:167645602C>T	ENST00000518659.1	+	23	4745	c.4706C>T	c.(4705-4707)gCg>gTg	p.A1569V	TENM2_ENST00000403607.2_Missense_Mutation_p.A1393V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1330V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1568V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1448V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1569					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGGATCAGGGCGGTCAGCAAG	0.493													.|||	1	0.000199681	0.0	0.0	5008	,	,		21728	0.0		0.001	False		,,,				2504	0.0																0													162.0	157.0	159.0					5																	167645602		1969	4146	6115	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4706C>T	5.37:g.167645602C>T	ENSP00000429430:p.Ala1569Val		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1569V	ENST00000518659.1	37	c.4706		5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769971	0.90020	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.89196	-2.48;0.37;-2.48;-2.48;-2.48	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	M	0.77103	2.36	0.80722	D	1	D;D;D	0.62365	0.991;0.985;0.986	P;P;P	0.55545	0.778;0.604;0.63	D	0.92650	0.6132	10	0.49607	T	0.09	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1568;1569;1330	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1569;1568;1448;1330;1393	ENSP00000429430:A1569V;ENSP00000438635:A1568V;ENSP00000428964:A1448V;ENSP00000427874:A1330V;ENSP00000384905:A1393V	ENSP00000384905:A1393V	A	+	2	0	ODZ2	167578180	1.000000	0.71417	0.977000	0.42913	0.930000	0.56654	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG	TENM2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf		0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167645602	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	T
TG	7038	genome.wustl.edu	37	8	134108511	134108511	+	Missense_Mutation	SNP	G	G	A	rs143135039		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr8:134108511G>A	ENST00000220616.4	+	43	7506	c.7466G>A	c.(7465-7467)cGt>cAt	p.R2489H	SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000519543.1_Missense_Mutation_p.R622H|TG_ENST00000377869.1_Missense_Mutation_p.R2432H|SLA_ENST00000338087.5_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.R859H|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2489					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)		CACTTCCTCCGTGAGCCTCCA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19663	0.0		0.0	False		,,,				2504	0.0																0								G	,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	161.0	154.0	156.0		,,7466	-4.4	0.0	8	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,probably-damaging	,,2489/2769	134108511	2,13004	2203	4300	6503	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.7466G>A	8.37:g.134108511G>A	ENSP00000220616:p.Arg2489His		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R2489H	ENST00000220616.4	37	c.7466	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900869	0.33535	2.27E-4	1.16E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.46	-4.36	0.03645	Carboxylesterase, type B (1);	0.467714	0.20117	N	0.098900	T	0.63827	0.2544	M	0.64567	1.98	0.28088	N	0.931916	D;P;D	0.61080	0.989;0.571;0.989	P;B;P	0.56398	0.704;0.101;0.797	T	0.58651	-0.7599	10	0.72032	D	0.01	.	1.5317	0.02537	0.3788:0.2327:0.27:0.1185	.	622;859;2489	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2432;1295;2489;859;622	ENSP00000367100:R2432H;ENSP00000220616:R2489H;ENSP00000441693:R859H;ENSP00000430430:R622H	ENSP00000220616:R2489H	R	+	2	0	TG	134177693	0.000000	0.05858	0.004000	0.12327	0.056000	0.15407	-0.924000	0.03996	-0.538000	0.06281	-0.768000	0.03414	CGT	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134108511	+1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.001	A
TGOLN2	10618	genome.wustl.edu	37	2	85554084	85554084	+	Silent	SNP	A	A	C			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:85554084A>C	ENST00000409232.3	-	2	832	c.771T>G	c.(769-771)ccT>ccG	p.P257P	TGOLN2_ENST00000444342.2_Silent_p.P257P|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000409015.1_Silent_p.P257P|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Silent_p.P257P			O43493	TGON2_HUMAN	trans-golgi network protein 2	257						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTTCCGGGAAGGCTGCTCTG	0.572																																																	0													85.0	84.0	85.0					2																	85554084		1949	4140	6089	SO:0001819	synonymous_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.771T>G	2.37:g.85554084A>C			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.P257	ENST00000409232.3	37	c.771	CCDS56126.1	2																																																																																			TGOLN2	-	NULL		0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	A	NM_006464		85554084	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	silent	SNP	0.001	C
TICRR	90381	genome.wustl.edu	37	15	90162963	90162963	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr15:90162963G>A	ENST00000268138.7	+	18	3149	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	TICRR_ENST00000560985.1_Missense_Mutation_p.R1014Q|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1015					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1015Q(1)									CGAAGTCCTCGAATCAAGCAG	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	131.0	133.0					15																	90162963		1925	4140	6065	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3044G>A	15.37:g.90162963G>A	ENSP00000268138:p.Arg1015Gln		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.R1015Q	ENST00000268138.7	37	c.3044	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	34	5.371476	0.95923	.	.	ENSG00000140534	ENST00000268138	T	0.24538	1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51631	-0.8681	10	0.56958	D	0.05	-11.8653	19.1612	0.93533	0.0:0.0:1.0:0.0	.	1015	Q7Z2Z1	TICRR_HUMAN	Q	1015	ENSP00000268138:R1015Q	ENSP00000268138:R1015Q	R	+	2	0	C15orf42	87963967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.748000	0.94277	0.655000	0.94253	CGA	TICRR	-	NULL		0.433	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	G	NM_152259		90162963	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPV6	55503	genome.wustl.edu	37	7	142569581	142569581	+	Missense_Mutation	SNP	C	C	T	rs150837047		TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr7:142569581C>T	ENST00000359396.3	-	15	2302	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	686					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGAGGTACTTCGAGACACTGA	0.587																																																	0													69.0	70.0	69.0					7																	142569581		2203	4300	6503	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2057G>A	7.37:g.142569581C>T	ENSP00000352358:p.Arg686Gln		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.R686Q	ENST00000359396.3	37	c.2057	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567566	0.86439	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.49720	0.77	5.41	5.41	0.78517	.	0.800711	0.11053	N	0.604861	T	0.68869	0.3048	M	0.71206	2.165	0.36609	D	0.875124	D	0.89917	1.0	D	0.68943	0.961	T	0.69022	-0.5255	10	0.48119	T	0.1	-6.1798	16.3396	0.83078	0.0:1.0:0.0:0.0	.	686	Q9H1D0	TRPV6_HUMAN	Q	686;518	ENSP00000352358:R686Q	ENSP00000310825:R518Q	R	-	2	0	TRPV6	142279703	0.976000	0.34144	0.992000	0.48379	0.855000	0.48748	2.493000	0.45320	2.542000	0.85734	0.561000	0.74099	CGA	TRPV6	-	tigrfam_TRP_channel		0.587	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274		142569581	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	missense	SNP	0.995	T
TTN	7273	genome.wustl.edu	37	2	179483051	179483051	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr2:179483051C>T	ENST00000591111.1	-	202	42435	c.42211G>A	c.(42211-42213)Gag>Aag	p.E14071K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6839K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13144K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15712K|TTN_ENST00000359218.5_Missense_Mutation_p.E6772K|TTN_ENST00000460472.2_Missense_Mutation_p.E6647K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14071	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACAACTCTCTGCACGGTCT	0.463																																																	0													101.0	98.0	99.0					2																	179483051		1927	4132	6059	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42211G>A	2.37:g.179483051C>T	ENSP00000465570:p.Glu14071Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13144K	ENST00000591111.1	37	c.39430		2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231685	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39911	0.1096	N	0.05306	-0.075	0.46749	D	0.99918	B;B;B;B	0.28713	0.117;0.117;0.117;0.22	B;B;B;B	0.33121	0.044;0.044;0.082;0.158	T	0.44390	-0.9331	9	0.87932	D	0	.	19.982	0.97329	0.0:1.0:0.0:0.0	.	6647;6772;6839;14071	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13144;6647;6839;6772;6647	ENSP00000343764:E13144K;ENSP00000434586:E6647K;ENSP00000340554:E6839K;ENSP00000352154:E6772K	ENSP00000340554:E6839K	E	-	1	0	TTN	179191296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.798000	0.96311	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179483051	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTPA	7274	genome.wustl.edu	37	8	63976819	63976819	+	Silent	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr8:63976819G>A	ENST00000260116.4	-	4	640	c.609C>T	c.(607-609)ttC>ttT	p.F203F	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	203	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AGACAGCATGGAAAATTACTG	0.308																																																	0													79.0	79.0	79.0					8																	63976819		2203	4300	6503	SO:0001819	synonymous_variant	7274			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.609C>T	8.37:g.63976819G>A			Q71V64	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.F203	ENST00000260116.4	37	c.609	CCDS6178.1	8																																																																																			TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.308	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	G	NM_000370		63976819	-1	no_errors	ENST00000260116	ensembl	human	known	70_37	silent	SNP	1.000	A
ZIC3	7547	genome.wustl.edu	37	X	136649872	136649872	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chrX:136649872G>A	ENST00000287538.5	+	1	1572	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R341H	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	341	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTGCCCGTTCTGAGAAC	0.582																																																	0													59.0	63.0	62.0					X																	136649872		2200	4296	6496	SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1022G>A	X.37:g.136649872G>A	ENSP00000287538:p.Arg341His		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R341H	ENST00000287538.5	37	c.1022	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592411	0.86953	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.42131	0.98;0.98	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.31926	0.97	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.57619	-0.7780	10	0.72032	D	0.01	.	16.2665	0.82581	0.0:0.0:1.0:0.0	.	341	O60481	ZIC3_HUMAN	H	341	ENSP00000287538:R341H;ENSP00000359638:R341H	ENSP00000287538:R341H	R	+	2	0	ZIC3	136477538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.809000	0.86057	2.299000	0.77371	0.596000	0.82720	CGT	ZIC3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	G			136649872	+1	no_errors	ENST00000287538	ensembl	human	known	70_37	missense	SNP	1.000	A
ZSCAN5B	342933	genome.wustl.edu	37	19	56701805	56701805	+	Silent	SNP	C	C	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:56701805C>G	ENST00000586855.2	-	5	1192	c.879G>C	c.(877-879)ctG>ctC	p.L293L	ZSCAN5B_ENST00000358992.3_Silent_p.L293L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGGACTGCTCAGATTCAGAG	0.527																																																	0													171.0	166.0	168.0					19																	56701805		2203	4300	6503	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.879G>C	19.37:g.56701805C>G				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L293	ENST00000586855.2	37	c.879	CCDS46203.1	19																																																																																			ZSCAN5B	-	NULL		0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56701805	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	silent	SNP	0.003	G
ZSCAN5B	342933	genome.wustl.edu	37	19	56703294	56703294	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1M5-01A-11D-A13W-08	TCGA-C5-A1M5-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	90369746-5572-4f29-9852-1663cbc0179d	d260e788-4165-4610-a331-06e6cd6e0374	g.chr19:56703294C>G	ENST00000586855.2	-	3	826	c.513G>C	c.(511-513)caG>caC	p.Q171H	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q171H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	171					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCGGATGCATCTGGTTCACAG	0.612																																																	0													34.0	36.0	35.0					19																	56703294		2203	4300	6503	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.513G>C	19.37:g.56703294C>G	ENSP00000466072:p.Gln171His			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q171H	ENST00000586855.2	37	c.513	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	c	3.523	-0.097303	0.07010	.	.	ENSG00000197213	ENST00000358992	T	0.06068	3.35	1.9	-2.29	0.06805	.	.	.	.	.	T	0.06872	0.0175	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	9	0.49607	T	0.09	.	9.6653	0.39981	0.0:0.3451:0.6549:0.0	.	171	A6NJL1	ZSA5B_HUMAN	H	171	ENSP00000351883:Q171H	ENSP00000351883:Q171H	Q	-	3	2	ZSCAN5B	61395106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.558000	0.02164	-0.393000	0.07739	-2.279000	0.00272	CAG	ZSCAN5B	-	NULL		0.612	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	C	NM_001080456		56703294	-1	no_errors	ENST00000358992	ensembl	human	known	70_37	missense	SNP	0.000	G
