#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
APOBR	55911	genome.wustl.edu	37	16	28507415	28507417	+	Intron	DEL	GGA	GGA	-	rs148114931|rs365499		TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr16:28507415_28507417delGGA	ENST00000431282.1	+	2	1058				CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_In_Frame_Del_p.E353del|APOBR_ENST00000328423.5_Intron|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCTCAGGAGGGGAGGAGGCCGGG	0.704																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+5GGA>-	16.37:g.28507418_28507420delGGA			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	NULL	p.E353in_frame_del	ENST00000431282.1	37	c.1053_1055		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.704	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		17	0.00	0	GGA	NM_182804		28507415	28507417	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	in_frame_del	16	18.18	4	DEL	0.000:0.005:0.010	-
ARHGAP18	93663	genome.wustl.edu	37	6	129937374	129937374	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr6:129937374G>A	ENST00000368149.2	-	7	1115	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAGATCAAGGGTATTCGCATT	0.348																																						dbGAP											0													128.0	116.0	120.0					6																	129937374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1027C>T	6.37:g.129937374G>A	ENSP00000357131:p.Pro343Ser			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P343S	ENST00000368149.2	37	c.1027	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535030	0.85812	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	H	0.99454	4.575	0.80722	D	1	D;D	0.67145	0.992;0.996	P;D	0.77004	0.888;0.989	D	0.94594	0.7790	8	.	.	.	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	343;343	A9UK01;Q8N392	.;RHG18_HUMAN	S	298;343	.	.	P	-	1	0	ARHGAP18	129979067	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	8.742000	0.91588	2.793000	0.96121	0.591000	0.81541	CCC	ARHGAP18	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000146376		0.348	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	144	0.00	0	G	NM_033515		129937374	129937374	-1	no_errors	ENST00000275189	ensembl	human	known	69_37n	missense	307	19.42	74	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181726119	181726119	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr1:181726119C>T	ENST00000367573.2	+	30	4186	c.4186C>T	c.(4186-4188)Cgc>Tgc	p.R1396C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1377C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGCAGCAACCGCATGGAGAT	0.488																																						dbGAP											0													180.0	188.0	186.0					1																	181726119		1965	4166	6131	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4186C>T	1.37:g.181726119C>T	ENSP00000356545:p.Arg1396Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1396C	ENST00000367573.2	37	c.4186	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205134	0.79127	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.75	5.75	0.90469	Ion transport (1);	0.050918	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.997	D	0.99782	1.1028	10	0.87932	D	0	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1377;1396;1396	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1396;1377;1347;1328;1003;1377;1396	ENSP00000356542:R1396C;ENSP00000434814:R1377C;ENSP00000350183:R1347C;ENSP00000351101:R1328C;ENSP00000356539:R1003C;ENSP00000353222:R1377C;ENSP00000356545:R1396C	ENSP00000350183:R1347C	R	+	1	0	CACNA1E	179992742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.134000	0.50538	2.716000	0.92895	0.655000	0.94253	CGC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	261	0.00	0	C	NM_000721		181726119	181726119	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	510	18.40	115	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120156088	120156088	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr12:120156088G>A	ENST00000261833.7	-	31	4056	c.4004C>T	c.(4003-4005)cCg>cTg	p.P1335L	CIT_ENST00000392521.2_Missense_Mutation_p.P1377L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1335					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGGATGGCGGGGCCAGCAG	0.577																																						dbGAP											0													42.0	46.0	44.0					12																	120156088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4004C>T	12.37:g.120156088G>A	ENSP00000261833:p.Pro1335Leu		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1335L	ENST00000261833.7	37	c.4004	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.841250|4.841250	0.91197|0.91197	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.65916|.	-0.17;-0.18|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.062425|.	0.64402|.	D|.	0.000004|.	T|T	0.70046|0.70046	0.3179|0.3179	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;P|.	0.58970|.	0.984;0.957;0.938|.	B;B;B|.	0.42245|.	0.248;0.284;0.381|.	T|T	0.64791|0.64791	-0.6324|-0.6324	10|5	0.51188|.	T|.	0.08|.	.|.	19.9189|19.9189	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1377;1335;853|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	L|C	1377;1335|948	ENSP00000376306:P1377L;ENSP00000261833:P1335L|.	ENSP00000261833:P1335L|.	P|R	-|-	2|1	0|0	CIT|CIT	118640471|118640471	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	7.903000|7.903000	0.87398|0.87398	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	CCG|CGC	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.577	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	80	0.00	0	G	NM_007174		120156088	120156088	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	127	17.53	27	SNP	1.000	A
CTAG2	30848	genome.wustl.edu	37	X	153881613	153881613	+	Silent	SNP	G	G	A			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chrX:153881613G>A	ENST00000247306.4	-	1	240	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CTAG2_ENST00000369585.3_Silent_p.G59G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	59	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGGGGCGCCTCCTCTCG	0.756																																						dbGAP											0													12.0	14.0	13.0					X																	153881613		2137	4153	6290	-	-	-	SO:0001819	synonymous_variant	0			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.177C>T	X.37:g.153881613G>A			O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	pfam_EKC/KEOPS_Pcc1	p.G59	ENST00000247306.4	37	c.177	CCDS14759.1	X																																																																																			CTAG2	-	NULL	ENSG00000126890		0.756	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	HGNC	protein_coding	OTTHUMT00000061176.1	11	0.00	0	G	NM_020994		153881613	153881613	-1	no_errors	ENST00000369585	ensembl	human	known	69_37n	silent	70	28.57	28	SNP	0.000	A
CTGF	1490	genome.wustl.edu	37	6	132270681	132270681	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr6:132270681C>T	ENST00000367976.3	-	5	973	c.773G>A	c.(772-774)cGt>cAt	p.R258H	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	258	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTTGGGAGTACGGATGCACTT	0.458																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	dbGAP											0													228.0	237.0	234.0					6																	132270681		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.773G>A	6.37:g.132270681C>T	ENSP00000356954:p.Arg258His		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R258H	ENST00000367976.3	37	c.773	CCDS5151.1	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073700	0.76415	.	.	ENSG00000118523	ENST00000367976	D	0.91068	-2.78	5.64	4.78	0.61160	Cystine knot (1);Cystine knot, C-terminal (1);	0.053508	0.85682	N	0.000000	D	0.94019	0.8084	M	0.79011	2.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94982	0.8126	10	0.87932	D	0	.	14.6405	0.68720	0.0:0.9303:0.0:0.0697	.	258	P29279	CTGF_HUMAN	H	258	ENSP00000356954:R258H	ENSP00000356954:R258H	R	-	2	0	CTGF	132312374	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	1.526000	0.49068	0.650000	0.86243	CGT	CTGF	-	pfam_Cys_knot,pirsf_IGFBP_CNN,pfscan_Cys_knot_C	ENSG00000118523		0.458	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	110	0.00	0	C	NM_001901		132270681	132270681	-1	no_errors	ENST00000367976	ensembl	human	known	69_37n	missense	187	17.98	41	SNP	1.000	T
DDC	1644	genome.wustl.edu	37	7	50605566	50605566	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr7:50605566C>T	ENST00000444124.2	-	4	627	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Missense_Mutation_p.V143M|DDC_ENST00000357936.5_Missense_Mutation_p.V143M|DDC_ENST00000431062.1_Missense_Mutation_p.V143M|DDC_ENST00000426377.1_Intron|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	143	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ACCTGGATCACTCCTCCCCCT	0.542																																						dbGAP											0													118.0	109.0	112.0					7																	50605566		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.427G>A	7.37:g.50605566C>T	ENSP00000403644:p.Val143Met		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.V143M	ENST00000444124.2	37	c.427	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827386	0.71143	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.52295	0.67;0.88;0.67;0.67	5.72	4.84	0.62591	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81543	-0.0885	10	0.87932	D	0	-6.3334	14.6757	0.68978	0.0:0.9304:0.0:0.0696	.	143	P20711	DDC_HUMAN	M	143	ENSP00000350616:V143M;ENSP00000399184:V143M;ENSP00000403644:V143M;ENSP00000370371:V143M	ENSP00000350616:V143M	V	-	1	0	DDC	50573060	1.000000	0.71417	0.913000	0.36048	0.472000	0.32918	7.787000	0.85759	1.431000	0.47355	-0.136000	0.14681	GTG	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	ENSG00000132437		0.542	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	223	0.00	0	C			50605566	50605566	-1	no_errors	ENST00000357936	ensembl	human	known	69_37n	missense	402	18.75	93	SNP	1.000	T
HIPK2	28996	genome.wustl.edu	37	7	139257730	139257730	+	Silent	SNP	G	G	C			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr7:139257730G>C	ENST00000406875.3	-	15	3634	c.3540C>G	c.(3538-3540)acC>acG	p.T1180T	HIPK2_ENST00000428878.2_Silent_p.T1153T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1180	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CAGTGTAGACGGTGGAGGCTG	0.627																																						dbGAP											0													41.0	50.0	47.0					7																	139257730		2106	4201	6307	-	-	-	SO:0001819	synonymous_variant	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3540C>G	7.37:g.139257730G>C			Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T1180	ENST00000406875.3	37	c.3540		7																																																																																			HIPK2	-	NULL	ENSG00000064393		0.627	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	152	0.00	0	G	NM_022740		139257730	139257730	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	silent	199	22.57	58	SNP	1.000	C
NARS2	79731	genome.wustl.edu	37	11	78204212	78204212	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr11:78204212G>C	ENST00000281038.5	-	7	1094	c.719C>G	c.(718-720)cCg>cGg	p.P240R	NARS2_ENST00000528850.1_Missense_Mutation_p.P13R	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	240					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCGGAAGGTCGGACCAAAGGT	0.363																																						dbGAP											0													59.0	63.0	61.0					11																	78204212		2199	4292	6491	-	-	-	SO:0001583	missense	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.719C>G	11.37:g.78204212G>C	ENSP00000281038:p.Pro240Arg		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb	p.P240R	ENST00000281038.5	37	c.719	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638247	0.87760	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.84516	-1.86;-1.86	5.67	5.67	0.87782	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.95111	0.8238	10	0.87932	D	0	-10.4192	16.6757	0.85278	0.0:0.0:1.0:0.0	.	240	Q96I59	SYNM_HUMAN	R	240;13	ENSP00000281038:P240R;ENSP00000432635:P13R	ENSP00000281038:P240R	P	-	2	0	NARS2	77881860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.744000	0.91596	2.670000	0.90874	0.650000	0.86243	CCG	NARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb	ENSG00000137513		0.363	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	43	0.00	0	G	NM_024678		78204212	78204212	-1	no_errors	ENST00000281038	ensembl	human	known	69_37n	missense	189	13.96	31	SNP	1.000	C
OR4N4	283694	genome.wustl.edu	37	15	22382595	22382595	+	Silent	SNP	A	A	G			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr15:22382595A>G	ENST00000328795.4	+	1	214	c.123A>G	c.(121-123)ggA>ggG	p.G41G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTCCCTGGAAATTTTCTCA	0.438																																						dbGAP											0													199.0	198.0	199.0					15																	22382595		2193	4278	6471	-	-	-	SO:0001819	synonymous_variant	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.123A>G	15.37:g.22382595A>G			Q6IEY3|Q6IF56	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G41	ENST00000328795.4	37	c.123	CCDS32173.1	15																																																																																			OR4N4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183706		0.438	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	478	0.00	0	A			22382595	22382595	+1	no_errors	ENST00000328795	ensembl	human	known	69_37n	silent	1096	10.89	134	SNP	0.998	G
PIK3CA	5290	genome.wustl.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	A			178936095	178936095	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	140	23.08	42	SNP	1.000	G
RAD21	5885	genome.wustl.edu	37	8	117862955	117862955	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr8:117862955C>G	ENST00000297338.2	-	12	1809	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	RAD21_ENST00000518055.1_Missense_Mutation_p.E53Q|RAD21_ENST00000523986.1_Missense_Mutation_p.E12Q|RAD21_ENST00000517749.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	508	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTTGGAGGTTCTTCTGGGGGA	0.388																																						dbGAP											0													133.0	132.0	132.0					8																	117862955		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1522G>C	8.37:g.117862955C>G	ENSP00000297338:p.Glu508Gln		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.E508Q	ENST00000297338.2	37	c.1522	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610176	0.66558	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.78595	0.59;-1.19;-0.28	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.81750	-0.0790	10	0.30078	T	0.28	-10.2183	19.1023	0.93279	0.0:1.0:0.0:0.0	.	508	O60216	RAD21_HUMAN	Q	508;12;53	ENSP00000297338:E508Q;ENSP00000428513:E12Q;ENSP00000428003:E53Q	ENSP00000297338:E508Q	E	-	1	0	RAD21	117932136	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	6.250000	0.72435	2.481000	0.83766	0.467000	0.42956	GAA	RAD21	-	NULL	ENSG00000164754		0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	228	0.00	0	C	NM_006265		117862955	117862955	-1	no_errors	ENST00000297338	ensembl	human	known	69_37n	missense	487	20.55	126	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179467306	179467306	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr2:179467306G>T	ENST00000591111.1	-	233	50124	c.49900C>A	c.(49900-49902)Cca>Aca	p.P16634T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P18275T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15707T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9402T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9335T|TTN_ENST00000460472.2_Missense_Mutation_p.P9210T			Q8WZ42	TITIN_HUMAN	titin	16634	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAAGGTGGCCCCGGTGGA	0.393																																						dbGAP											0													44.0	38.0	39.0					2																	179467306		1817	4061	5878	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49900C>A	2.37:g.179467306G>T	ENSP00000465570:p.Pro16634Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P15707T	ENST00000591111.1	37	c.47119		2	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004289	0.19199	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.81	0.377	0.16198	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65249	0.2673	M	0.88512	2.96	0.27282	N	0.958081	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.24701	0.055;0.055;0.055;0.055	T	0.64685	-0.6349	9	0.87932	D	0	.	14.8057	0.69952	0.0655:0.6377:0.2968:0.0	.	9210;9335;9402;16634	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15707;9210;9402;9335;9210	ENSP00000343764:P15707T;ENSP00000434586:P9210T;ENSP00000340554:P9402T;ENSP00000352154:P9335T	ENSP00000340554:P9402T	P	-	1	0	TTN	179175551	0.953000	0.32496	0.997000	0.53966	0.985000	0.73830	0.996000	0.29719	0.056000	0.16144	0.655000	0.94253	CCA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	78	0.00	0	G	NM_133378		179467306	179467306	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	180	23.40	55	SNP	0.922	T
ZNF45	7596	genome.wustl.edu	37	19	44418767	44418767	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EW-01A-21D-A10Y-09	TCGA-A2-A0EW-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a045a04e-4f7b-4f9a-a733-47ad24475496	7ada2974-e227-405b-82c2-53909e722858	g.chr19:44418767T>C	ENST00000269973.5	-	10	1911	c.821A>G	c.(820-822)aAa>aGa	p.K274R	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.K274R	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	274					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTATAGGGTTTCTCTCCCGT	0.428																																						dbGAP											0													101.0	92.0	95.0					19																	44418767		2203	4300	6503	-	-	-	SO:0001583	missense	0			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.821A>G	19.37:g.44418767T>C	ENSP00000269973:p.Lys274Arg		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K274R	ENST00000269973.5	37	c.821	CCDS12632.1	19	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031000	0.54790	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.24908	1.83	3.51	2.48	0.30137	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34700	N	0.003753	T	0.16896	0.0406	L	0.35341	1.055	0.22754	N	0.998773	B	0.11235	0.004	B	0.09377	0.004	T	0.17018	-1.0383	10	0.54805	T	0.06	-10.4113	6.1353	0.20227	0.0:0.2261:0.0:0.7739	.	274	Q02386	ZNF45_HUMAN	R	274	ENSP00000269973:K274R	ENSP00000269973:K274R	K	-	2	0	ZNF45	49110607	0.002000	0.14202	0.722000	0.30670	0.577000	0.36160	0.213000	0.17521	0.570000	0.29347	0.379000	0.24179	AAA	ZNF45	-	pfscan_Znf_C2H2	ENSG00000124459		0.428	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	127	0.00	0	T	NM_003425		44418767	44418767	-1	no_errors	ENST00000269973	ensembl	human	known	69_37n	missense	222	20.14	56	SNP	1.000	C
