#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_CAF	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_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
ATP11C	286410	genome.wustl.edu	37	X	138886758	138886758	+	Splice_Site	SNP	C	C	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chrX:138886758C>A	ENST00000327569.3	-	6	534	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F	ATP11C_ENST00000361648.2_Splice_Site_p.V146F|ATP11C_ENST00000370557.1_Splice_Site_p.V143F|ATP11C_ENST00000370543.1_Splice_Site_p.V146F|ATP11C_ENST00000359686.2_Splice_Site_p.V146F	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	146					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACATCACCAACCTGGAATTGA	0.348																																							0											0													105.0	94.0	98.0					X																	138886758		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.436-1G>T	X.37:g.138886758C>A			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V146F	ENST00000327569.3	37	c.436	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060514	0.76074	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.7	4.7	0.59300	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99110	1.0846	10	0.87932	D	0	.	15.7628	0.78101	0.0:1.0:0.0:0.0	.	146;146	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	F	143;146;146;146;146	ENSP00000359588:V143F;ENSP00000355165:V146F;ENSP00000332756:V146F;ENSP00000359574:V146F;ENSP00000352715:V146F	ENSP00000332756:V146F	V	-	1	0	ATP11C	138714424	1.000000	0.71417	0.999000	0.59377	0.691000	0.40173	7.601000	0.82783	2.172000	0.68678	0.422000	0.28245	GTT	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.348	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	protein_coding	OTTHUMT00000354945.1	95	92	0	0.00	0	0	C	NM_173694	0	0	Missense_Mutation	138886758	-1	no_errors	ENST00000327569	ensembl	human	known	74_37	missense	169	106	9.63	7.83	18	9	SNP	1	A
MSH4	4438	genome.wustl.edu	37	1	76342640	76342640	+	Missense_Mutation	SNP	A	A	G			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr1:76342640A>G	ENST00000263187.3	+	10	1429	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	442					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGAACTGTAACACACCTTTA	0.284								Mismatch excision repair (MMR)																															0											0													63.0	67.0	66.0					1																	76342640		2203	4287	6490	SO:0001583	missense	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1325A>G	1.37:g.76342640A>G	ENSP00000263187:p.Asn442Ser		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.N442S	ENST00000263187.3	37	c.1325	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	A	1.895	-0.454604	0.04540	.	.	ENSG00000057468	ENST00000263187	D	0.90069	-2.61	5.86	-1.08	0.09936	DNA mismatch repair protein MutS, core (3);	0.715605	0.14110	N	0.340751	T	0.47358	0.1441	N	0.08118	0	0.21416	N	0.999694	B	0.02656	0.0	B	0.04013	0.001	T	0.53005	-0.8499	10	0.05721	T	0.95	-14.053	6.6477	0.22945	0.5764:0.1179:0.3057:0.0	.	442	O15457	MSH4_HUMAN	S	442	ENSP00000263187:N442S	ENSP00000263187:N442S	N	+	2	0	MSH4	76115228	0.730000	0.28100	0.931000	0.37212	0.901000	0.52897	1.252000	0.32874	-0.098000	0.12285	0.528000	0.53228	AAC	0	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.284	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	protein_coding	OTTHUMT00000026983.1	66	171	0	0.00	0	0	A	NM_002440	0	0		76342640	1	no_errors	ENST00000263187	ensembl	human	known	74_37	missense	75	154	25	23.00	25	46	SNP	0.627	G
PRG4	10216	genome.wustl.edu	37	1	186275527	186275527	+	Silent	SNP	T	T	C			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr1:186275527T>C	ENST00000445192.2	+	7	721	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	PRG4_ENST00000367484.3_Silent_p.L185L|PRG4_ENST00000367483.4_Silent_p.L185L|PRG4_ENST00000367485.4_Silent_p.L133L|PRG4_ENST00000367486.3_Silent_p.L183L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	226					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGGAAGTGGATTGGACAATGG	0.403																																							0											0													211.0	203.0	205.0					1																	186275527		2203	4300	6503	SO:0001819	synonymous_variant	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.676T>C	1.37:g.186275527T>C			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.L226	ENST00000445192.2	37	c.676	CCDS1369.1	1																																																																																			0	NULL		0.403	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	59	226	0	0.00	0	0	T	NM_005807	0	0		186275527	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	67	209	21.18	27.65	18	81	SNP	0.712	C
SEL1L3	23231	genome.wustl.edu	37	4	25780763	25780763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr4:25780763C>T	ENST00000399878.3	-	16	2642	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.W687*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.W805*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	840						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGAGAGAACACCACAAGGTCC	0.448																																							0											0													157.0	145.0	149.0					4																	25780763		1968	4143	6111	SO:0001587	stop_gained	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2520G>A	4.37:g.25780763C>T	ENSP00000382767:p.Trp840*		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.W840*	ENST00000399878.3	37	c.2520	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	41	9.069276	0.99055	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	.	.	.	5.22	5.22	0.72569	.	0.552403	0.20856	N	0.084422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.668	7.7727	0.29019	0.1629:0.7491:0.0:0.088	.	.	.	.	X	840;805;687;21	.	ENSP00000264868:W805X	W	-	3	0	SEL1L3	25389861	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.540000	0.36115	2.429000	0.82318	0.561000	0.74099	TGG	0	smart_Sel1-like		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	protein_coding	OTTHUMT00000360261.1	52	209	0	0.00	0	0	C	NM_015187	0	0		25780763	-1	no_errors	ENST00000399878	ensembl	human	known	74_37	nonsense	28	155	37.78	26.54	17	56	SNP	1	T
ADAMTS3	9508	genome.wustl.edu	37	4	73177944	73177944	+	Intron	SNP	C	C	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr4:73177944C>A	ENST00000286657.4	-	13	1958					NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGGTTCGTGCTGGCAAAGCT	0.463																																					NSCLC(168;1941 2048 2918 13048 43078)		0											0																																										SO:0001627	intron_variant	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1921+63G>T	4.37:g.73177944C>A			A1L3U9|Q9BXZ8	RNA	SNP	0	NULL	ENST00000286657.4	37	NULL	CCDS3553.1	4																																																																																			0	0		0.463	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	protein_coding	OTTHUMT00000252164.2	49	186	0	0.00	0	0	C		0	0		73177944	-1	no_errors	ENST00000511274	ensembl	human	known	74_37	rna	37	162	39.34	30.77	24	72	SNP	0	A
UBLCP1	134510	genome.wustl.edu	37	5	158697618	158697618	+	Missense_Mutation	SNP	C	C	G			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr5:158697618C>G	ENST00000296786.6	+	5	741	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	139	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGAAAAAGCTTTTGGTGCT	0.333																																							0											0													73.0	74.0	74.0					5																	158697618		2203	4299	6502	SO:0001583	missense	0			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.415C>G	5.37:g.158697618C>G	ENSP00000296786:p.Leu139Val		D3DQJ7|Q96DK5	Missense_Mutation	SNP	pfam_NIF,pfam_Ubiquitin_dom,superfamily_HAD-like_dom,smart_Ubiquitin_dom,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID	p.L139V	ENST00000296786.6	37	c.415	CCDS4345.1	5	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199501	0.58126	.	.	ENSG00000164332	ENST00000296786	T	0.18810	2.19	5.79	5.79	0.91817	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	M	0.71871	2.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	10	0.45353	T	0.12	-9.8414	14.2234	0.65843	0.0:0.9289:0.0:0.0711	.	139	Q8WVY7	UBCP1_HUMAN	V	139	ENSP00000296786:L139V	ENSP00000296786:L139V	L	+	1	0	UBLCP1	158630196	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.459000	0.60102	2.740000	0.93945	0.563000	0.77884	CTT	0	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID		0.333	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBLCP1	protein_coding	OTTHUMT00000252650.2	32	236	0	0.00	0	0	C	NM_145049	0	0		158697618	1	no_errors	ENST00000296786	ensembl	human	known	74_37	missense	64	190	15.79	32.86	12	93	SNP	1	G
ZSCAN12	9753	genome.wustl.edu	37	6	28358990	28358990	+	Silent	SNP	G	G	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr6:28358990G>A	ENST00000361028.1	-	4	1222	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	ZSCAN12_ENST00000396827.3_Silent_p.H359H			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	359					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						AGTCATTACAGTGATAGTGTT	0.433																																							0											0													101.0	85.0	90.0					6																	28358990		692	1591	2283	SO:0001819	synonymous_variant	0			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1077C>T	6.37:g.28358990G>A			O43724	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H359	ENST00000361028.1	37	c.1077		6																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	protein_coding	OTTHUMT00000040190.1	133	150	0	0.00	0	0	G	NM_014724	0	0		28358990	-1	no_errors	ENST00000361028	ensembl	human	known	74_37	silent	165	155	13.61	7.19	26	12	SNP	0.895	A
FIG4	9896	genome.wustl.edu	37	6	110062669	110062669	+	Silent	SNP	A	A	G			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr6:110062669A>G	ENST00000230124.3	+	8	922	c.798A>G	c.(796-798)ccA>ccG	p.P266P	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	266	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ATGGACGACCAGTGTATGTCA	0.378																																							0											0													181.0	186.0	184.0					6																	110062669		2203	4300	6503	SO:0001819	synonymous_variant	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.798A>G	6.37:g.110062669A>G			Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.P266	ENST00000230124.3	37	c.798	CCDS5078.1	6																																																																																			0	pfam_Syja_N,pfscan_Syja_N		0.378	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	protein_coding	OTTHUMT00000041768.1	48	223	0	0.00	0	0	A	NM_014845	0	0		110062669	1	no_errors	ENST00000230124	ensembl	human	known	74_37	silent	62	209	7.46	10.30	5	24	SNP	0.869	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	225	130	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	292	84	25.7	35.38	101	46	SNP	1	A
FSCN3	29999	genome.wustl.edu	37	7	127240363	127240363	+	Silent	SNP	C	C	G	rs200461532		TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr7:127240363C>G	ENST00000265825.5	+	6	1626	c.1407C>G	c.(1405-1407)gcC>gcG	p.A469A	FSCN3_ENST00000420086.2_Missense_Mutation_p.P334A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	469						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACTGGCCCCCAATGGCT	0.507																																							0											0													85.0	73.0	77.0					7																	127240363		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1407C>G	7.37:g.127240363C>G			A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.P334A	ENST00000265825.5	37	c.1000	CCDS34746.1	7	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584258	0.46110	.	.	ENSG00000106328	ENST00000420086	T	0.47528	0.84	5.74	-5.2	0.02823	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.21984	N	0.99944	D	0.76494	0.999	D	0.80764	0.994	T	0.54649	-0.8262	7	.	.	.	-10.7533	7.831	0.29342	0.2637:0.3066:0.4297:0.0	.	334	B4DU68	.	A	334	ENSP00000412243:P334A	.	P	+	1	0	FSCN3	127027599	0.036000	0.19791	0.970000	0.41538	0.928000	0.56348	-1.629000	0.02029	-0.785000	0.04522	-0.976000	0.02587	CCC	0	NULL		0.507	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	protein_coding	OTTHUMT00000059256.2	63	145	0	0.68	0	1	C	NM_020369	0	0		127240363	1	no_errors	ENST00000420086	ensembl	human	known	74_37	missense	55	122	19.12	28.24	13	48	SNP	0.96	G
CSMD1	64478	genome.wustl.edu	37	8	3855580	3855580	+	Silent	SNP	G	G	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr8:3855580G>A	ENST00000520002.1	-	5	1218	c.663C>T	c.(661-663)agC>agT	p.S221S	CSMD1_ENST00000537824.1_Silent_p.S221S|CSMD1_ENST00000539096.1_Silent_p.S221S|CSMD1_ENST00000602723.1_Silent_p.S221S|CSMD1_ENST00000400186.3_Silent_p.S221S|CSMD1_ENST00000542608.1_Silent_p.S221S|CSMD1_ENST00000602557.1_Silent_p.S221S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	221	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAAGTGCGGGCTGGAGATGG	0.572																																							0											0													41.0	44.0	43.0					8																	3855580		2103	4261	6364	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.663C>T	8.37:g.3855580G>A			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S221	ENST00000520002.1	37	c.663		8																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	60	153	0	0.00	0	0	G	NM_033225	0	0		3855580	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	silent	47	96	24.19	31.43	15	44	SNP	1	A
NTRK2	4915	genome.wustl.edu	37	9	87285831	87285831	+	Silent	SNP	G	G	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr9:87285831G>A	ENST00000323115.4	+	1	521	c.168G>A	c.(166-168)ccG>ccA	p.P56P	NTRK2_ENST00000376208.1_Silent_p.P56P|NTRK2_ENST00000376213.1_Silent_p.P56P|NTRK2_ENST00000277120.3_Silent_p.P56P|NTRK2_ENST00000304053.6_Silent_p.P56P|NTRK2_ENST00000376214.1_Silent_p.P56P|NTRK2_ENST00000359847.3_Silent_p.P56P|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000395882.1_Silent_p.P56P			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	56	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGGCATTTCCGAGATTGGAGC	0.572										TSP Lung(25;0.17)																													0											0													103.0	85.0	91.0					9																	87285831		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.168G>A	9.37:g.87285831G>A			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.P56	ENST00000323115.4	37	c.168	CCDS35050.1	9																																																																																			0	pfam_LRR-contain_N,smart_LRR-contain_N		0.572	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	69	129	0	0.00	0	0	G		0	0		87285831	1	no_errors	ENST00000277120	ensembl	human	known	74_37	silent	57	79	29.63	30.70	24	35	SNP	0.613	A
COL17A1	1308	genome.wustl.edu	37	10	105796368	105796368	+	Silent	SNP	T	T	C			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr10:105796368T>C	ENST00000353479.5	-	48	3590	c.3300A>G	c.(3298-3300)ctA>ctG	p.L1100L	COL17A1_ENST00000369733.3_Silent_p.L1055L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1100	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTACTGACGTAGGTACTGAC	0.627																																							0											0													57.0	45.0	49.0					10																	105796368		2203	4300	6503	SO:0001819	synonymous_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3300A>G	10.37:g.105796368T>C			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L1100	ENST00000353479.5	37	c.3300	CCDS7554.1	10																																																																																			0	NULL		0.627	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	27	87	0	0.00	0	0	T	NM_130778, NM_000494	0	0		105796368	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	19	61	26.92	26.51	7	22	SNP	0.061	C
OTOGL	283310	genome.wustl.edu	37	12	80752501	80752501	+	Missense_Mutation	SNP	A	A	G			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr12:80752501A>G	ENST00000547103.1	+	50	6115	c.6109A>G	c.(6109-6111)Atg>Gtg	p.M2037V	OTOGL_ENST00000458043.2_Missense_Mutation_p.M2049V|OTOGL_ENST00000546620.1_Missense_Mutation_p.M68V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2037	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCAGAAGATATGAATCTTGT	0.308																																							0											0													89.0	88.0	88.0					12																	80752501		2203	4300	6503	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6109A>G	12.37:g.80752501A>G	ENSP00000447211:p.Met2037Val		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.M2049V	ENST00000547103.1	37	c.6145		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.943042|2.943042	0.53079|0.53079	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182	.|T;T;T;T	.|0.42131	.|2.45;2.45;2.33;0.98	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.116008	.|0.53938	.|D	.|0.000050	T|T	0.38931|0.38931	0.1059|0.1059	M|M	0.66939|0.66939	2.045|2.045	0.24889|0.24889	N|N	0.992172|0.992172	.|B	.|0.26081	.|0.141	.|B	.|0.27500	.|0.08	T|T	0.27365|0.27365	-1.0076|-1.0076	5|10	.|0.16896	.|T	.|0.51	.|.	9.9302|9.9302	0.41517|0.41517	0.9235:0.0:0.0765:0.0|0.9235:0.0:0.0765:0.0	.|.	.|414	.|Q3ZCN5	.|OTOGL_HUMAN	M|V	491|2037;2049;68;66	.|ENSP00000447211:M2037V;ENSP00000400895:M2049V;ENSP00000449094:M68V;ENSP00000449641:M66V	.|ENSP00000400895:M2049V	I|M	+|+	3|1	3|0	OTOGL|OTOGL	79276632|79276632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	3.141000|3.141000	0.50593|0.50593	2.124000|2.124000	0.65301|0.65301	0.482000|0.482000	0.46254|0.46254	ATA|ATG	0	NULL		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	45	224	0	0.00	0	0	A	NM_173591	0	0		80752501	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	48	203	36	25.91	27	71	SNP	1	G
LTBP2	4053	genome.wustl.edu	37	14	75052588	75052588	+	Missense_Mutation	SNP	A	A	C			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr14:75052588A>C	ENST00000261978.4	-	3	1185	c.799T>G	c.(799-801)Tcg>Gcg	p.S267A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.S267A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	267					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGCGGCGACTGTGGTGCT	0.662																																							0											0													45.0	56.0	52.0					14																	75052588		2203	4300	6503	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.799T>G	14.37:g.75052588A>C	ENSP00000261978:p.Ser267Ala		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S267A	ENST00000261978.4	37	c.799	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	A	2.989	-0.208533	0.06140	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77750	-1.11;-1.12	5.02	1.75	0.24633	.	2.239770	0.02540	N	0.094513	T	0.52677	0.1749	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51108	-0.8747	10	0.08599	T	0.76	.	3.741	0.08530	0.0997:0.121:0.5465:0.2328	.	267	Q14767	LTBP2_HUMAN	A	267	ENSP00000261978:S267A;ENSP00000451477:S267A	ENSP00000261978:S267A	S	-	1	0	LTBP2	74122341	0.970000	0.33590	0.369000	0.25952	0.004000	0.04260	0.822000	0.27352	0.477000	0.27464	-1.247000	0.01520	TCG	0	NULL		0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	protein_coding	OTTHUMT00000413595.1	72	155	0	0.64	0	1	A	NM_000428	0	0		75052588	-1	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	46	85	24.59	17.31	15	18	SNP	0.592	C
TSHZ1	10194	genome.wustl.edu	37	18	72999958	72999958	+	Missense_Mutation	SNP	G	G	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr18:72999958G>A	ENST00000580243.1	+	2	2944	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	TSHZ1_ENST00000322038.5_Missense_Mutation_p.D821N			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	866					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAGAAGTCCGATGCTGATGG	0.602																																							0											0													64.0	58.0	60.0					18																	72999958		2203	4300	6503	SO:0001583	missense	0			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2596G>A	18.37:g.72999958G>A	ENSP00000464391:p.Asp866Asn		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.D866N	ENST00000580243.1	37	c.2596		18	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483617	0.12581	.	.	ENSG00000179981	ENST00000322038	T	0.16196	2.36	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	L	0.57536	1.79	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	T	0.35674	-0.9779	10	0.87932	D	0	-32.8111	18.5761	0.91155	0.0:0.0:1.0:0.0	.	866	Q6ZSZ6	TSH1_HUMAN	N	821	ENSP00000323584:D821N	ENSP00000323584:D821N	D	+	1	0	TSHZ1	71128946	1.000000	0.71417	0.077000	0.20336	0.050000	0.14768	9.420000	0.97426	1.996000	0.58369	0.459000	0.35465	GAT	0	NULL		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	protein_coding	OTTHUMT00000444913.1	32	129	0	0.00	0	0	G	NM_005786	0	0		72999958	1	no_errors	ENST00000580243	ensembl	human	known	74_37	missense	20	95	25.93	21.49	7	26	SNP	1	A
CACNA1A	773	genome.wustl.edu	37	19	13340904	13340904	+	Silent	SNP	G	G	A			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr19:13340904G>A	ENST00000360228.5	-	36	5519	c.5520C>T	c.(5518-5520)ccC>ccT	p.P1840P	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.P1841P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1841					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAAGCTGCGGGGTCATACT	0.592																																							0											0													59.0	66.0	64.0					19																	13340904		2051	4220	6271	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5520C>T	19.37:g.13340904G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P1840	ENST00000360228.5	37	c.5520	CCDS45998.1	19																																																																																			0	NULL		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	32	159	3.03	0.62	1	1	G	NM_000068	0	0		13340904	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	32	136	30.43	26.34	14	49	SNP	0.997	A
KRT8P47	644743	genome.wustl.edu	37	1	44569967	44569968	+	lincRNA	INS	-	-	GCC	rs369247676		TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr1:44569967_44569968insGCC	ENST00000434244.1	+	0	1964_1965																											CGTCTCCAGCTTCAGCTTCTCC	0.54																																							0											0																																												0																															1.37:g.44569967_44569968insGCC				RNA	INS	0	NULL	ENST00000434244.1	37	NULL		1																																																																																			0	0		0.540	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	lincRNA	OTTHUMT00000022875.2	16	0	0	0.00	0	0	0		rs369247676	T->TGCC		44569968	1	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	21	0	22.22	0.00	6	0	INS	1.000:0.999	GCC
