#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
KIAA2022	340533	genome.wustl.edu	37	X	73961372	73961372	+	Missense_Mutation	SNP	C	C	A			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chrX:73961372C>A	ENST00000055682.6	-	3	3631	c.3020G>T	c.(3019-3021)tGc>tTc	p.C1007F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1007					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTAAGGAGCAATAATTACT	0.473																																							0											0													69.0	61.0	64.0					X																	73961372		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3020G>T	X.37:g.73961372C>A	ENSP00000055682:p.Cys1007Phe		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.C1007F	ENST00000055682.6	37	c.3020	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139748	0.56936	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.58	5.58	0.84498	.	0.041372	0.85682	D	0.000000	T	0.30008	0.0751	N	0.22421	0.69	0.45427	D	0.998408	D	0.54964	0.969	P	0.47827	0.558	T	0.02115	-1.1211	10	0.29301	T	0.29	-6.6583	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1007	Q5QGS0	K2022_HUMAN	F	1007	ENSP00000362567:C1007F;ENSP00000055682:C1007F	ENSP00000055682:C1007F	C	-	2	0	KIAA2022	73878097	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.761000	0.68801	2.344000	0.79699	0.600000	0.82982	TGC	0	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	38	161	0	0.00	0	0	C	NM_001008537	0	0		73961372	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	49	224	9.26	11.42	5	29	SNP	1	A
EFCAB14	9813	genome.wustl.edu	37	1	47144022	47144022	+	3'UTR	SNP	T	T	C			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr1:47144022T>C	ENST00000371933.3	-	0	2575				EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14								calcium ion binding (GO:0005509)										GGTGGCAAAGTATCTGCTACA	0.318																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.*111A>G	1.37:g.47144022T>C			D3DQ23|Q5SXB8	RNA	SNP	0	NULL	ENST00000371933.3	37	NULL	CCDS30706.1	1																																																																																			0	0		0.318	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB14	protein_coding	OTTHUMT00000021931.1	68	208	0	0.00	0	0	T	NM_014774	0	0		47144022	-1	no_errors	ENST00000479745	ensembl	human	known	74_37	rna	86	305	17.31	19.21	18	73	SNP	0.993	C
OBSCN	84033	genome.wustl.edu	37	1	228473872	228473872	+	Missense_Mutation	SNP	A	A	G			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr1:228473872A>G	ENST00000422127.1	+	34	9142	c.9098A>G	c.(9097-9099)tAc>tGc	p.Y3033C	OBSCN_ENST00000359599.6_Missense_Mutation_p.Y1880C|OBSCN_ENST00000284548.11_Missense_Mutation_p.Y3033C|OBSCN_ENST00000366707.4_Missense_Mutation_p.Y152C|OBSCN_ENST00000366709.4_Missense_Mutation_p.Y152C|OBSCN_ENST00000570156.2_Missense_Mutation_p.Y3462C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3033	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGCCAACTACGAGCCTGTG	0.632																																							0											0													32.0	42.0	39.0					1																	228473872		2107	4212	6319	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9098A>G	1.37:g.228473872A>G	ENSP00000409493:p.Tyr3033Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Y3033C	ENST00000422127.1	37	c.9098	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329043	0.60743	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.67	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.349867	0.27891	N	0.017425	T	0.76870	0.4048	M	0.64997	1.995	0.34626	D	0.71911	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	T	0.81417	-0.0942	10	0.38643	T	0.18	.	10.968	0.47424	0.8603:0.0:0.0:0.1397	.	3033;3033	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3033;3033;152;152;1880	ENSP00000284548:Y3033C;ENSP00000409493:Y3033C;ENSP00000355668:Y152C;ENSP00000355670:Y152C;ENSP00000352613:Y1880C	ENSP00000284548:Y3033C	Y	+	2	0	OBSCN	226540495	0.970000	0.33590	0.827000	0.32855	0.313000	0.28021	2.498000	0.45363	2.155000	0.67459	0.459000	0.35465	TAC	0	smart_Ig_sub,smart_Ig_sub2		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		66	111	0	0.00	0	0	A	NM_052843	0	0		228473872	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	37	101	17.78	10.62	8	12	SNP	0.964	G
RAPGEF4	11069	genome.wustl.edu	37	2	173848262	173848262	+	Missense_Mutation	SNP	A	A	G	rs376593491		TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr2:173848262A>G	ENST00000397081.3	+	11	1186	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Y204C|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Y195C|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Y347C|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Y348C|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Y128C|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Y195C|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Y177C	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	348					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GAGATTATCTATGAGGAGCTT	0.393																																							0											0								A	CYS/TYR,CYS/TYR	0,3664		0,0,1832	206.0	191.0	196.0		611,1043	6.1	1.0	2		196	1,8193		0,1,4096	no	missense,missense	RAPGEF4	NM_001100397.1,NM_007023.3	194,194	0,1,5928	GG,GA,AA		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	204/868,348/1012	173848262	1,11857	1832	4097	5929	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1043A>G	2.37:g.173848262A>G	ENSP00000380271:p.Tyr348Cys		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.Y348C	ENST00000397081.3	37	c.1043	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026344	0.75390	0.0	1.22E-4	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.056547	0.64402	D	0.000001	D	0.91192	0.7225	M	0.76574	2.34	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.486;0.998	D;D;D;B;D	0.74023	0.982;0.921;0.979;0.126;0.928	D	0.91903	0.5533	10	0.87932	D	0	.	11.6956	0.51542	0.8681:0.0:0.0:0.1319	.	175;177;204;348;348	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	C	347;348;348;204;177;195;195;175;128	ENSP00000264111:Y347C;ENSP00000380271:Y348C;ENSP00000387104:Y348C;ENSP00000380276:Y204C;ENSP00000440135:Y177C;ENSP00000440250:Y195C;ENSP00000437384:Y195C;ENSP00000438011:Y128C	ENSP00000264111:Y347C	Y	+	2	0	RAPGEF4	173556508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.963000	0.76055	2.333000	0.79357	0.482000	0.46254	TAT	0	superfamily_cNMP-bd-like		0.393	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	protein_coding	OTTHUMT00000257864.2	26	116	0	0.00	0	0	A	NM_007023	rs376593491	A->G		173848262	1	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	41	158	12.5	16.41	6	32	SNP	1	G
NUP210P1	255330	genome.wustl.edu	37	3	126386168	126386168	+	RNA	SNP	G	G	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr3:126386168G>T	ENST00000357061.3	+	0	620					NR_034158.1				nucleoporin 210kDa pseudogene 1																		GGACATCCTGGATCTCCAAGG	0.607																																							0											0																																												0			BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386168G>T				RNA	SNP	0	NULL	ENST00000357061.3	37	NULL		3																																																																																			0	0		0.607	NUP210P1-002	KNOWN	basic	processed_transcript	NUP210P1	pseudogene	OTTHUMT00000356320.1	42	103	0	0.00	0	0	G	NR_034158	0	0		126386168	1	no_errors	ENST00000357061	ensembl	human	known	74_37	rna	36	149	18.18	10.78	8	18	SNP	0.988	T
COL6A6	131873	genome.wustl.edu	37	3	130290046	130290046	+	Missense_Mutation	SNP	T	T	C			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr3:130290046T>C	ENST00000358511.6	+	6	2817	c.2786T>C	c.(2785-2787)cTc>cCc	p.L929P	COL6A6_ENST00000453409.2_Missense_Mutation_p.L929P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	929	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTGATAAACTCAATGCCACG	0.567																																							0											0													65.0	65.0	65.0					3																	130290046		1964	4148	6112	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2786T>C	3.37:g.130290046T>C	ENSP00000351310:p.Leu929Pro		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L929P	ENST00000358511.6	37	c.2786	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051016	0.75960	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79352	-1.26;-1.26	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000097	D	0.85729	0.5764	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86486	0.1794	10	0.52906	T	0.07	.	14.3361	0.66592	0.0:0.0:0.0:1.0	.	929	A6NMZ7	CO6A6_HUMAN	P	929	ENSP00000351310:L929P;ENSP00000399236:L929P	ENSP00000351310:L929P	L	+	2	0	COL6A6	131772736	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	5.729000	0.68538	1.946000	0.56461	0.459000	0.35465	CTC	0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	37	126	0	0.00	0	0	T	NM_001102608	0	0		130290046	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	32	156	15.79	7.10	6	12	SNP	0.998	C
NDST4	64579	genome.wustl.edu	37	4	115760705	115760705	+	Splice_Site	SNP	C	C	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr4:115760705C>T	ENST00000264363.2	-	11	2794		c.e11-1			NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4						heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCGTTGGTGCTTTAACAAGA	0.378																																							0											0													106.0	107.0	107.0					4																	115760705		2203	4300	6503	SO:0001630	splice_region_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2116-1G>A	4.37:g.115760705C>T			Q2KHM8	Splice_Site	SNP	0	e10-1	ENST00000264363.2	37	c.2116-1	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974331	0.92919	.	.	ENSG00000138653	ENST00000264363	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDST4	115980154	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	.	0	0		0.378	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	47	201	0	0.00	0	0	C	NM_022569	0	0	Intron	115760705	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	splice_site	42	265	17.65	15.87	9	50	SNP	1	T
RNF8	9025	genome.wustl.edu	37	6	37339295	37339295	+	Missense_Mutation	SNP	A	A	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr6:37339295A>T	ENST00000373479.4	+	4	1176	c.983A>T	c.(982-984)gAg>gTg	p.E328V	RNF8_ENST00000469731.1_Missense_Mutation_p.E328V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	328	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CAGGGTTTGGAGATAGCCCAA	0.478																																							0											0													72.0	70.0	71.0					6																	37339295		2203	4300	6503	SO:0001583	missense	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.983A>T	6.37:g.37339295A>T	ENSP00000362578:p.Glu328Val		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.E328V	ENST00000373479.4	37	c.983	CCDS4834.1	6	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545147	0.45280	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.84223	-1.82;0.64	5.67	4.45	0.53987	.	0.342447	0.27609	N	0.018620	T	0.70902	0.3277	L	0.44542	1.39	0.80722	D	1	P	0.43094	0.799	B	0.38562	0.276	T	0.74910	-0.3503	10	0.44086	T	0.13	.	11.4673	0.50246	0.8497:0.1503:0.0:0.0	.	328	O76064	RNF8_HUMAN	V	328	ENSP00000362578:E328V;ENSP00000418879:E328V	ENSP00000362578:E328V	E	+	2	0	RNF8	37447273	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	4.197000	0.58413	2.164000	0.68074	0.533000	0.62120	GAG	0	pirsf_E3_Ub_ligase_RNF8		0.478	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	protein_coding	OTTHUMT00000040403.2	86	156	1.15	0.00	1	0	A		0	0		37339295	1	no_errors	ENST00000373479	ensembl	human	known	74_37	missense	72	197	7.69	15.09	6	35	SNP	0.985	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	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	288	98	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	275	129	16.67	14.00	55	21	SNP	1	A
SORCS1	114815	genome.wustl.edu	37	10	108339194	108339194	+	Missense_Mutation	SNP	C	C	A			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr10:108339194C>A	ENST00000263054.6	-	25	3311	c.3304G>T	c.(3304-3306)Gcc>Tcc	p.A1102S	SORCS1_ENST00000344440.6_Missense_Mutation_p.A1102S|SORCS1_ENST00000369698.1_Missense_Mutation_p.A637S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1102					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATCAGCATGGCAGATCCACTG	0.552																																							0											0													113.0	85.0	95.0					10																	108339194		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3304G>T	10.37:g.108339194C>A	ENSP00000263054:p.Ala1102Ser		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.A1102S	ENST00000263054.6	37	c.3304	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.162207	0.94727	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.32753	1.44;1.9;1.9	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.49778	1.585	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.32666	-0.9898	9	.	.	.	-20.9447	20.3167	0.98654	0.0:1.0:0.0:0.0	.	1102;1102;1102;1102;1102	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	S	637;1102;1102	ENSP00000358712:A637S;ENSP00000263054:A1102S;ENSP00000345964:A1102S	.	A	-	1	0	SORCS1	108329184	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.487000	0.81328	2.809000	0.96659	0.557000	0.71058	GCC	0	NULL		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	20	84	0	0.00	0	0	C	NM_052918	0	0		108339194	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	21	112	16	10.24	4	13	SNP	1	A
OR4A16	81327	genome.wustl.edu	37	11	55111501	55111501	+	Silent	SNP	T	T	C			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr11:55111501T>C	ENST00000314721.2	+	1	875	c.825T>C	c.(823-825)atT>atC	p.I275I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTATTCAATTATCACACTCA	0.323																																							0											0													96.0	91.0	93.0					11																	55111501		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.825T>C	11.37:g.55111501T>C			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I275	ENST00000314721.2	37	c.825	CCDS31499.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.323	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	protein_coding	OTTHUMT00000391160.1	38	143	0	0.00	0	0	T	NM_001005274	0	0		55111501	1	no_errors	ENST00000314721	ensembl	human	known	74_37	silent	54	235	26.03	12.92	19	35	SNP	0	C
LOC101929735	101929735	genome.wustl.edu	37	14	22887703	22887703	+	lincRNA	SNP	C	C	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr14:22887703C>T	ENST00000555460.1	+	0	910				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA																							AGGAAGCACTCGTGGCAGTTT	0.483																																							0											0																																												0																															14.37:g.22887703C>T				RNA	SNP	0	NULL	ENST00000555460.1	37	NULL		14																																																																																			0	0		0.483	AE000661.50-001	KNOWN	basic|exp_conf	lincRNA	LOC101929735	lincRNA	OTTHUMT00000410668.1	38	118	0	0.00	0	0	C		0	0		22887703	-1	no_errors	ENST00000535351	ensembl	human	known	74_37	rna	15	93	31.82	23.14	7	28	SNP	0	T
TDRD9	122402	genome.wustl.edu	37	14	104488496	104488496	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr14:104488496C>T	ENST00000409874.4	+	24	2483	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	TDRD9_ENST00000339063.5_Missense_Mutation_p.A812V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	812					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGGAACAGAGCCTTTGTGGAA	0.333																																							0											0													17.0	17.0	17.0					14																	104488496		2175	4229	6404	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2435C>T	14.37:g.104488496C>T	ENSP00000387303:p.Ala812Val		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A812V	ENST00000409874.4	37	c.2435	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671375	0.47781	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.61980	0.06;0.06	5.6	4.71	0.59529	.	0.000000	0.64402	D	0.000005	T	0.72946	0.3524	L	0.55834	1.745	0.80722	D	1	D;P	0.71674	0.998;0.512	D;B	0.74348	0.983;0.153	T	0.70114	-0.4961	10	0.26408	T	0.33	.	14.5837	0.68310	0.0:0.9295:0.0:0.0705	.	812;812	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	V	812	ENSP00000387303:A812V;ENSP00000343545:A812V	ENSP00000343545:A812V	A	+	2	0	TDRD9	103558249	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.760000	0.55235	1.368000	0.46115	0.650000	0.86243	GCC	0	NULL		0.333	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	protein_coding	OTTHUMT00000328325.3	71	154	0	0.00	0	0	C	NM_153046	0	0		104488496	1	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	64	219	17.95	11.69	14	29	SNP	1	T
LOC100420587	100420587	genome.wustl.edu	37	19	29213667	29213667	+	lincRNA	SNP	T	T	A			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr19:29213667T>A	ENST00000592347.1	-	0	451																											CCTTCAAGGCTGAAATGTCCA	0.443																																							0											0																																												0																															19.37:g.29213667T>A				RNA	SNP	0	NULL	ENST00000592347.1	37	NULL		19																																																																																			0	0		0.443	AC005307.3-001	KNOWN	basic	lincRNA	ENSG00000267243	lincRNA	OTTHUMT00000453069.1	15	99	0	0.00	0	0	T		0	0		29213667	-1	no_errors	ENST00000590072	ensembl	human	known	74_37	rna	25	151	30.56	9.58	11	16	SNP	0	A
ANKRD19P	138649	genome.wustl.edu	37	9	95599312	95599312	+	RNA	SNP	C	C	A			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr9:95599312C>A	ENST00000473204.1	+	0	1393							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											AGGCCTCCAGCTGGGCCATGT	0.582																																							0											0																																												0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599312C>A			A8K853|Q17RD3	RNA	SNP	0	NULL	ENST00000473204.1	37	NULL		9																																																																																			0	0		0.582	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	pseudogene	OTTHUMT00000053116.3	36	6	0	0.00	0	0	C	NR_026868	0	0		95599312	1	no_errors	ENST00000464387	ensembl	human	known	74_37	rna	21	6	16	0.00	4	0	SNP	1	A
RABL6	55684	genome.wustl.edu	37	9	139735102	139735102	+	3'UTR	SNP	G	G	T			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr9:139735102G>T	ENST00000311502.7	+	0	2554				RABL6_ENST00000357466.2_Missense_Mutation_p.E415D|RABL6_ENST00000371675.3_3'UTR|RABL6_ENST00000371663.4_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGCTGGAAGAGGCCGGGCATT	0.677																																							0											0													6.0	8.0	7.0					9																	139735102		680	1573	2253	SO:0001624	3_prime_UTR_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.*128G>T	9.37:g.139735102G>T			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.E415D	ENST00000311502.7	37	c.1245	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	5.198	0.222036	0.09863	.	.	ENSG00000196642	ENST00000371673;ENST00000357466	T	0.53206	0.63	0.976	0.976	0.19727	.	.	.	.	.	T	0.31765	0.0807	.	.	.	0.18873	N	0.999987	B	0.20261	0.043	B	0.12156	0.007	T	0.31166	-0.9953	8	0.87932	D	0	.	3.2603	0.06846	0.2914:0.0:0.7086:0.0	.	415	A8QVZ8	.	D	416;415	ENSP00000350056:E415D	ENSP00000350056:E415D	E	+	3	2	C9orf86	138854923	0.170000	0.23016	0.012000	0.15200	0.051000	0.14879	0.448000	0.21726	0.830000	0.34757	0.313000	0.20887	GAG	0	NULL		0.677	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	protein_coding	OTTHUMT00000055141.4	69	7	0	0.00	0	0	G	NM_024718	0	0		139735102	1	no_errors	ENST00000357466	ensembl	human	putative	74_37	missense	44	10	8.33	0.00	4	0	SNP	0.015	T
CACNA1A	773	genome.wustl.edu	37	19	13318678	13318678	+	Missense_Mutation	SNP	G	G	C	rs16054		TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr19:13318678G>C	ENST00000360228.5	-	47	6969	c.6970C>G	c.(6970-6972)Cag>Gag	p.Q2324E	CACNA1A_ENST00000573710.2_3'UTR	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	2323	Poly-Gln.				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)	ACCGCctgctgctgctgctgc	0.761																																							0											0													1.0	1.0	1.0					19																	13318678		305	799	1104	SO:0001583	missense	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.6970C>G	19.37:g.13318678G>C	ENSP00000353362:p.Gln2324Glu		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.Q2324E	ENST00000360228.5	37	c.6970	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	g	0.067	-1.210719	0.01555	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.95171	-3.63	.	.	.	.	0.000000	0.08080	U	1.000000	D	0.83801	0.5333	N	0.08118	0	0.25543	N	0.98717	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.71533	-0.4564	9	0.15499	T	0.54	.	4.4457	0.11597	1.0E-4:0.0:0.6279:0.3719	.	2330;2324;2313	E9PD31;Q9NS88;E7EVF2	.;.;.	E	2324;2330;2313	ENSP00000353362:Q2324E	ENSP00000349520:Q2313E	Q	-	1	0	CACNA1A	13179678	0.983000	0.35010	0.163000	0.22734	0.834000	0.47266	0.936000	0.28938	-0.000000	0.14550	0.000000	0.15137	CAG	0	NULL		0.761	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	21	5	0	0.00	0	0	G	NM_000068	0	0		13318678	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	9	0	18.18	0.00	2	0	SNP	0.497	C
