#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
SLC27A3	11000	genome.wustl.edu	37	1	153750309	153750309	+	Missense_Mutation	SNP	C	C	T	rs151230291		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr1:153750309C>T	ENST00000368661.3	+	4	1315	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	SLC27A3_ENST00000271857.2_Missense_Mutation_p.T498M|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	417					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGGGTGACGGTGTTCCAG	0.607																																							0											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	82.0	67.0	72.0		1250	3.8	0.6	1	dbSNP_134	72	0,8600		0,0,4300	no	missense	SLC27A3	NM_024330.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	417/731	153750309	1,13005	2203	4300	6503	SO:0001583	missense	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1250C>T	1.37:g.153750309C>T	ENSP00000357650:p.Thr417Met		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T417M	ENST00000368661.3	37	c.1250	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.737055|3.737055	0.69304|0.69304	2.27E-4|2.27E-4	0.0|0.0	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661	.|T;T	.|0.19394	.|2.15;2.15	4.77|4.77	3.83|3.83	0.44106|0.44106	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53530|0.53530	0.1802|0.1802	H|H	0.98333|0.98333	4.205|4.205	0.35587|0.35587	D|D	0.80673|0.80673	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.73855|0.73855	-0.3851|-0.3851	5|10	.|0.87932	.|D	.|0	-9.9576|-9.9576	12.4991|12.4991	0.55946|0.55946	0.0:0.8302:0.1698:0.0|0.0:0.8302:0.1698:0.0	.|.	.|417	.|Q5K4L6	.|S27A3_HUMAN	W|M	122|498;417	.|ENSP00000271857:T498M;ENSP00000357650:T417M	.|ENSP00000271857:T498M	R|T	+|+	1|2	2|0	SLC27A3|SLC27A3	152016933|152016933	1.000000|1.000000	0.71417|0.71417	0.638000|0.638000	0.29380|0.29380	0.697000|0.697000	0.40408|0.40408	7.451000|7.451000	0.80668|0.80668	1.183000|1.183000	0.42943|0.42943	0.313000|0.313000	0.20887|0.20887	CGG|ACG	0	pfam_AMP-dep_Synth/Lig		0.607	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	protein_coding		45	93	0	0.00	0	0	C	NM_024330	rs151230291	C->T		153750309	1	no_errors	ENST00000368661	ensembl	human	known	74_37	missense	23	70	34.29	38.05	12	43	SNP	0.996	T
TPM3	7170	genome.wustl.edu	37	1	154143134	154143134	+	Missense_Mutation	SNP	T	T	G	rs1051209		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr1:154143134T>G	ENST00000368530.2	-	7	888	c.696A>C	c.(694-696)aaA>aaC	p.K232N	TPM3_ENST00000368533.3_Missense_Mutation_p.K195N|TPM3_ENST00000341485.5_Missense_Mutation_p.K179N|TPM3_ENST00000330188.9_Missense_Mutation_p.K195N|TPM3_ENST00000323144.7_Missense_Mutation_p.K195N|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.K232N|TPM3_ENST00000302206.5_Missense_Mutation_p.K105N|TPM3_ENST00000341372.3_Missense_Mutation_p.K170N|TPM3_ENST00000328159.4_Missense_Mutation_p.K195N|TPM3_ENST00000368531.2_Missense_Mutation_p.K195N	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	232					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTCCTTGAGTTTATCAGTAA	0.343			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																		0		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													153.0	162.0	159.0					1																	154143134		2203	4300	6503	SO:0001583	missense	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.696A>C	1.37:g.154143134T>G	ENSP00000357516:p.Lys232Asn		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.K232N	ENST00000368530.2	37	c.696	CCDS41403.1	1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196704	0.58126	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53	5.13	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.85462	2.755	0.44221	D	0.997056	P;B;D;B;B;P;B;P	0.76494	0.829;0.164;0.999;0.049;0.078;0.533;0.167;0.659	P;P;D;B;P;P;P;B	0.97110	0.869;0.708;1.0;0.185;0.487;0.717;0.686;0.284	D	0.98175	1.0454	10	0.54805	T	0.06	-3.4579	7.993	0.30252	0.0:0.1559:0.0:0.8441	.	129;195;231;195;195;195;195;180	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66;Q5VU64	.;.;TPM3_HUMAN;.;.;.;.;.	N	195;179;195;171;195;232;105;195;195;232	ENSP00000357521:K195N;ENSP00000341653:K179N;ENSP00000339035:K195N;ENSP00000339378:K171N;ENSP00000357520:K195N;ENSP00000271850:K232N;ENSP00000307712:K105N;ENSP00000357517:K195N;ENSP00000357518:K195N;ENSP00000357516:K232N	ENSP00000271850:K232N	K	-	3	2	TPM3	152409758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	2.056000	0.61249	0.460000	0.39030	AAA	0	pfam_Tropomyosin,prints_Tropomyosin		0.343	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	protein_coding	OTTHUMT00000087271.2	122	268	0	0.00	0	0	T	NM_152263	0	0		154143134	-1	no_errors	ENST00000368530	ensembl	human	known	74_37	missense	53	158	36.9	41.26	31	111	SNP	1	G
CCDC148	130940	genome.wustl.edu	37	2	159312934	159312934	+	Silent	SNP	A	A	C			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr2:159312934A>C	ENST00000283233.5	-	1	331	c.18T>G	c.(16-18)gcT>gcG	p.A6A	CCDC148_ENST00000409889.1_Silent_p.A6A|CCDC148_ENST00000491563.1_5'UTR|PKP4_ENST00000389759.3_5'Flank|CCDC148_ENST00000536771.1_5'UTR|PKP4_ENST00000389757.3_5'Flank	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	6								p.A6A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTGGAGAAGCAGAAGCTG	0.552																																							0											1	Substitution - coding silent(1)	kidney(1)											140.0	102.0	115.0					2																	159312934		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.18T>G	2.37:g.159312934A>C			F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	NULL	p.A6	ENST00000283233.5	37	c.18	CCDS33304.1	2																																																																																			0	NULL		0.552	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	protein_coding	OTTHUMT00000333270.1	42	116	0	0.00	0	0	A	NM_138803	0	0		159312934	-1	no_errors	ENST00000283233	ensembl	human	known	74_37	silent	19	97	26.92	34.90	7	52	SNP	0.196	C
TTN	7273	genome.wustl.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	rs372118864		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)	p.R9774W(1)		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)			TCATACTCCCGCTCCTCGTAT	0.358																																							0											1	Substitution - Missense(1)	lung(1)						G	,,,TRP/ARG	0,3780		0,0,1890	299.0	282.0	287.0		,,,29320	4.6	0.0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG		0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	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.32101C>T	2.37:g.179547466G>A	ENSP00000465570:p.Arg10701Trp		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_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_dom,pfscan_Ig-like_dom	p.R9774W	ENST00000591111.1	37	c.29320		2	.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG	0	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	69	210	0	0.00	0	0	G	NM_133378	rs372118864	G->A		179547466	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25	136	37.5	38.84	15	87	SNP	0.002	A
DPPA2	151871	genome.wustl.edu	37	3	109031471	109031471	+	Silent	SNP	G	G	A	rs572153453	byFrequency	TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr3:109031471G>A	ENST00000478945.1	-	3	348	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	34					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATATTTGCGTCATCTTTAA	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18068	0.0		0.0	False		,,,				2504	0.001						0.9996,0.0003994											0													182.0	166.0	171.0					3																	109031471		2203	4300	6503	SO:0001819	synonymous_variant	0			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.102C>T	3.37:g.109031471G>A			Q8WVF0	Silent	SNP	pfscan_SAP_dom	p.D34	ENST00000478945.1	37	c.102	CCDS2956.1	3																																																																																			0	NULL		0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	protein_coding	OTTHUMT00000353938.1	120	271	0	0.00	0	0	G	NM_138815	rs572153453	G->A		109031471	-1	no_errors	ENST00000478945	ensembl	human	known	74_37	silent	53	129	47.52	58.33	48	182	SNP	0.001	A
SLC9C1	285335	genome.wustl.edu	37	3	111940004	111940004	+	Silent	SNP	T	T	C	rs199866303		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr3:111940004T>C	ENST00000305815.5	-	14	1893	c.1641A>G	c.(1639-1641)gcA>gcG	p.A547A	SLC9C1_ENST00000487372.1_Silent_p.A499A	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	547					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AACTTTCTGCTGCACCAACCA	0.388																																							0											0								T		0,4406		0,0,2203	124.0	125.0	125.0		1641	-0.3	1.0	3		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A10	NM_183061.1		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		547/1178	111940004	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1641A>G	3.37:g.111940004T>C			Q6ZRP4|Q7RTP2	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.A547	ENST00000305815.5	37	c.1641	CCDS33817.1	3																																																																																			0	NULL		0.388	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	protein_coding	OTTHUMT00000354066.1	77	224	0	0.00	0	0	T	NM_183061	rs199866303	T->C,G		111940004	-1	no_errors	ENST00000305815	ensembl	human	known	74_37	silent	31	137	61.25	54.18	49	162	SNP	0.996	C
CCDC37	348807	genome.wustl.edu	37	3	126133041	126133041	+	Intron	SNP	C	C	T	rs371091744	byFrequency	TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr3:126133041C>T	ENST00000352312.1	+	4	324				CCDC37_ENST00000510833.1_Missense_Mutation_p.R82C|CCDC37_ENST00000393425.1_Intron|CCDC37_ENST00000505024.1_Intron	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGGACAGACGCCAGCACCT	0.552													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19771	0.0		0.0	False		,,,				2504	0.001						0.9996,0.0003994											0								C		0,4406		0,0,2203	112.0	112.0	112.0			-4.2	0.0	3		112	2,8598	2.2+/-6.3	0,2,4298	no	intron	CCDC37	NM_182628.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154			126133041	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.225+19C>T	3.37:g.126133041C>T			D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	NULL	p.R82C	ENST00000352312.1	37	c.244	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	C	8.198	0.797610	0.16327	0.0	2.33E-4	ENSG00000163885	ENST00000510833	.	.	.	3.1	-4.15	0.03881	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	.	0.9545	0.01382	0.3471:0.3036:0.2014:0.148	.	.	.	.	C	82	.	.	R	+	1	0	CCDC37	127615731	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.368000	0.07543	-1.061000	0.03185	-1.468000	0.01013	CGC	0	NULL		0.552	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	protein_coding	OTTHUMT00000370099.4	48	122	0	0.00	0	0	C	NM_182628	rs371091744	C->T		126133041	1	no_errors	ENST00000510833	ensembl	human	putative	74_37	missense	13	60	55.17	58.62	16	85	SNP	0	T
LRRC1	55227	genome.wustl.edu	37	6	53767447	53767447	+	Missense_Mutation	SNP	A	A	G	rs199592597		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr6:53767447A>G	ENST00000370888.1	+	9	1085	c.808A>G	c.(808-810)Atc>Gtc	p.I270V		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	270						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAAACTGTCAATCTTGAAGGT	0.343																																							0											0								A	VAL/ILE	1,3665		0,1,1832	116.0	111.0	113.0		808	4.5	0.8	6		113	6,8170		0,6,4082	yes	missense	LRRC1	NM_018214.4	29	0,7,5914	GG,GA,AA		0.0734,0.0273,0.0591	probably-damaging	270/525	53767447	7,11835	1833	4088	5921	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.808A>G	6.37:g.53767447A>G	ENSP00000359925:p.Ile270Val		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I270V	ENST00000370888.1	37	c.808	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116097	0.77323	2.73E-4	7.34E-4	ENSG00000137269	ENST00000370888	T	0.56444	0.46	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	N	0.05078	-0.115	0.80722	D	1	D	0.53151	0.958	D	0.70716	0.97	T	0.21075	-1.0256	10	0.11794	T	0.64	.	10.6448	0.45613	0.9257:0.0:0.0743:0.0	.	270	Q9BTT6	LRRC1_HUMAN	V	270	ENSP00000359925:I270V	ENSP00000359925:I270V	I	+	1	0	LRRC1	53875406	1.000000	0.71417	0.776000	0.31678	0.996000	0.88848	9.157000	0.94714	0.972000	0.38314	0.528000	0.53228	ATC	0	smart_Leu-rich_rpt_typical-subtyp		0.343	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	protein_coding	OTTHUMT00000040970.2	166	191	0	0.00	0	0	A	NM_025168	rs199592597	A->G		53767447	1	no_errors	ENST00000370888	ensembl	human	known	74_37	missense	80	127	28.57	38.94	32	81	SNP	0.99	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	469	114	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	187	70	42.73	34.58	141	37	SNP	1	A
OBP2B	29989	genome.wustl.edu	37	9	136080728	136080728	+	3'UTR	SNP	G	G	A			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr9:136080728G>A	ENST00000372034.3	-	0	626				OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B						chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		ATGGCTGGAGGGTAGGTCCAG	0.637																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.*72C>T	9.37:g.136080728G>A			Q5VSP6|Q9NY51|Q9NY52	RNA	SNP	0	NULL	ENST00000372034.3	37	NULL	CCDS6961.1	9																																																																																			0	0		0.637	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	protein_coding	OTTHUMT00000054851.1	42	147	0	0.00	0	0	G	NM_014581	0	0		136080728	-1	no_errors	ENST00000461961	ensembl	human	known	74_37	rna	29	95	42	35.37	21	52	SNP	0.022	A
OBP2A	29991	genome.wustl.edu	37	9	138441753	138441753	+	3'UTR	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr9:138441753C>T	ENST00000539850.1	+	0	875				OBP2A_ENST00000340780.3_Missense_Mutation_p.P217L|OBP2A_ENST00000342114.4_3'UTR|OBP2A_ENST00000371776.1_3'UTR			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGGACCTACCCTCCAGCCAT	0.652																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.*336C>T	9.37:g.138441753C>T			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.P217L	ENST00000539850.1	37	c.650	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	c	0.096	-1.160099	0.01686	.	.	ENSG00000122136	ENST00000340780	T	0.34472	1.36	1.66	-0.296	0.12824	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26292	-1.0107	8	0.87932	D	0	-1.1334	4.2396	0.10642	0.0:0.6077:0.0:0.3923	.	217	Q5T8A5	.	L	217	ENSP00000342097:P217L	ENSP00000342097:P217L	P	+	2	0	OBP2A	137581574	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.459000	0.06728	-0.080000	0.12685	-0.703000	0.03666	CCC	0	NULL		0.652	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	protein_coding	OTTHUMT00000397904.1	87	243	0	0.00	0	0	C	NM_014582	0	0		138441753	1	no_errors	ENST00000340780	ensembl	human	known	74_37	missense	82	209	7.78	5.86	7	13	SNP	0	T
CATSPER1	117144	genome.wustl.edu	37	11	65792733	65792733	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr11:65792733C>T	ENST00000312106.5	-	1	1255	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	373					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGGTGACACGTGAGCGGAT	0.532																																							0											0													139.0	116.0	124.0					11																	65792733		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1118G>A	11.37:g.65792733C>T	ENSP00000309052:p.Arg373His		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.R373H	ENST00000312106.5	37	c.1118	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585331	0.03827	.	.	ENSG00000175294	ENST00000312106	D	0.97041	-4.22	2.02	-4.04	0.04010	.	.	.	.	.	D	0.89413	0.6708	N	0.17800	0.525	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.80054	-0.1543	9	0.06494	T	0.89	0.4589	5.4123	0.16354	0.0:0.4088:0.3642:0.227	.	373	Q8NEC5	CTSR1_HUMAN	H	373	ENSP00000309052:R373H	ENSP00000309052:R373H	R	-	2	0	CATSPER1	65549309	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.593000	0.00111	-1.848000	0.01172	-0.691000	0.03719	CGT	0	NULL		0.532	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	78	188	0	0.00	0	0	C	NM_053054	0	0		65792733	-1	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	22	122	45	36.13	18	69	SNP	0	T
FGD4	121512	genome.wustl.edu	37	12	32735171	32735171	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:32735171G>C	ENST00000427716.2	+	4	794	c.370G>C	c.(370-372)Gat>Cat	p.D124H	FGD4_ENST00000472289.1_Missense_Mutation_p.D124H|FGD4_ENST00000534526.2_Missense_Mutation_p.D261H|FGD4_ENST00000531134.1_Missense_Mutation_p.D209H|FGD4_ENST00000546442.1_Missense_Mutation_p.D31H|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.D236H	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	124	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCCTTGCTTGATACGCACAT	0.468																																							0											0													155.0	128.0	137.0					12																	32735171		2203	4300	6503	SO:0001583	missense	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.370G>C	12.37:g.32735171G>C	ENSP00000394487:p.Asp124His		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D124H	ENST00000427716.2	37	c.370	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202046	0.38905	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.71222	-0.52;-0.51;-0.54;-0.55;-0.52	4.91	2.97	0.34412	.	0.656368	0.13360	N	0.393753	T	0.63522	0.2518	N	0.19112	0.55	0.09310	N	1	P;B;B;D	0.59767	0.641;0.412;0.412;0.986	B;B;B;P	0.55999	0.188;0.143;0.143;0.789	T	0.53429	-0.8440	10	0.66056	D	0.02	-7.4516	4.4618	0.11669	0.1255:0.1381:0.5956:0.1409	.	236;209;124;124	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	H	261;209;124;124;31;236;105	ENSP00000449273:D261H;ENSP00000431323:D209H;ENSP00000394487:D124H;ENSP00000446695:D31H;ENSP00000433666:D236H	ENSP00000379089:D124H	D	+	1	0	FGD4	32626438	0.001000	0.12720	0.005000	0.12908	0.376000	0.30014	0.558000	0.23469	2.274000	0.75844	0.467000	0.42956	GAT	0	NULL		0.468	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	protein_coding	OTTHUMT00000268017.1	52	143	0	0.00	0	0	G	NM_139241	0	0		32735171	1	no_errors	ENST00000427716	ensembl	human	known	74_37	missense	33	138	15	12.10	6	19	SNP	0	C
HECTD4	283450	genome.wustl.edu	37	12	112752332	112752332	+	5'UTR	SNP	G	G	A			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:112752332G>A	ENST00000430131.2	-	0	677				HECTD4_ENST00000550722.1_Silent_p.F94F|HECTD4_ENST00000377560.5_Silent_p.F94F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGTGGACGAAAGTTTTCA	0.348																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-469C>T	12.37:g.112752332G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.F94	ENST00000430131.2	37	c.282		12																																																																																			0	NULL		0.348	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		61	308	1.61	0.00	1	0	G	NM_173813	0	0		112752332	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	24	191	25	39.56	8	125	SNP	1	A
HCAR2	338442	genome.wustl.edu	37	12	123187243	123187243	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:123187243C>G	ENST00000328880.5	-	1	647	c.588G>C	c.(586-588)gaG>gaC	p.E196D	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	196					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GCAGGAAGAACTCCAGGAGGA	0.537																																							0											0													89.0	85.0	86.0					12																	123187243		2203	4300	6503	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.588G>C	12.37:g.123187243C>G	ENSP00000375066:p.Glu196Asp		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E196D	ENST00000328880.5	37	c.588	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660405	0.47572	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.71934	-0.61	5.25	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.332317	0.25109	N	0.033076	T	0.81456	0.4826	M	0.84511	2.7	0.28716	N	0.903278	D	0.69078	0.997	D	0.73380	0.98	T	0.72766	-0.4194	10	0.54805	T	0.06	-30.0957	6.1434	0.20273	0.0:0.621:0.0:0.379	.	196	Q8TDS4	HCAR2_HUMAN	D	196	ENSP00000375066:E196D	ENSP00000375066:E196D	E	-	3	2	HCAR2	121753196	0.002000	0.14202	1.000000	0.80357	0.413000	0.31143	-0.284000	0.08422	0.886000	0.36113	0.655000	0.94253	GAG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	protein_coding	OTTHUMT00000370202.1	22	71	0	0.00	0	0	C	NM_177551	0	0		123187243	-1	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	6	46	45.45	38.67	5	29	SNP	1	G
NEDD4	4734	genome.wustl.edu	37	15	56134159	56134159	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr15:56134159T>C	ENST00000508342.1	-	15	3367	c.3068A>G	c.(3067-3069)tAt>tGt	p.Y1023C	NEDD4_ENST00000506154.1_Missense_Mutation_p.Y1007C|NEDD4_ENST00000338963.2_Missense_Mutation_p.Y951C|NEDD4_ENST00000435532.3_Missense_Mutation_p.Y604C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1023	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACCCATAATAAGGGTTAAA	0.398																																							0											0													98.0	96.0	97.0					15																	56134159		2193	4292	6485	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3068A>G	15.37:g.56134159T>C	ENSP00000424827:p.Tyr1023Cys		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.Y1023C	ENST00000508342.1	37	c.3068		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436397|4.436397	0.83885|0.83885	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	6.07|6.07	6.07|6.07	0.98685|0.98685	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80014|0.80014	0.4546|0.4546	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;1.0	D|D	0.85244|0.85244	0.1040|0.1040	5|10	.|0.87932	.|D	.|0	.|.	15.8218|15.8218	0.78654|0.78654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1007;604;1023;951	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|C	614|1023;604;951;1007	.|ENSP00000424827:Y1023C;ENSP00000410613:Y604C;ENSP00000345530:Y951C;ENSP00000422705:Y1007C	.|ENSP00000345530:Y951C	I|Y	-|-	1|2	0|0	NEDD4|NEDD4	53921451|53921451	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.997000|0.997000	0.91878|0.91878	7.980000|7.980000	0.88113|0.88113	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|TAT	0	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.398	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	protein_coding	OTTHUMT00000359817.1	86	267	0	0.00	0	0	T	NM_198400	0	0		56134159	-1	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	44	152	35.29	40.47	24	104	SNP	1	C
LIPC	3990	genome.wustl.edu	37	15	58834137	58834137	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr15:58834137G>A	ENST00000356113.6	+	5	1042	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LIPC_ENST00000299022.5_Missense_Mutation_p.E143K|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.E143K			P11150	LIPC_HUMAN	lipase, hepatic	143					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGTGGGCAAGGAGGTCGCGGC	0.622																																							0											0													53.0	40.0	45.0					15																	58834137		2191	4292	6483	SO:0001583	missense	0				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.427G>A	15.37:g.58834137G>A	ENSP00000348425:p.Glu143Lys		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.E143K	ENST00000356113.6	37	c.427	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.328232	0.95733	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.91237	-2.81;-2.81;-2.81	4.53	4.53	0.55603	Lipase, N-terminal (1);	0.111526	0.64402	D	0.000011	D	0.90882	0.7135	L	0.33710	1.025	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	D	0.92297	0.5846	10	0.72032	D	0.01	.	17.4373	0.87555	0.0:0.0:1.0:0.0	.	143	P11150	LIPC_HUMAN	K	143	ENSP00000348425:E143K;ENSP00000395569:E143K;ENSP00000299022:E143K	ENSP00000299022:E143K	E	+	1	0	LIPC	56621429	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.616000	0.98359	2.340000	0.79590	0.407000	0.27541	GAG	0	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.622	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	protein_coding	OTTHUMT00000416209.1	54	101	0	0.00	0	0	G		0	0		58834137	1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	35	65	36.36	36.89	20	38	SNP	1	A
ARMC5	79798	genome.wustl.edu	37	16	31473623	31473623	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr16:31473623C>G	ENST00000563544.1	+	4	1301	c.755C>G	c.(754-756)gCt>gGt	p.A252G	ARMC5_ENST00000268314.4_Missense_Mutation_p.A252G|ARMC5_ENST00000538189.1_Missense_Mutation_p.A284G|ARMC5_ENST00000457010.2_Missense_Mutation_p.A252G|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.A347G|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	252										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCCAGATGCTGCACTGACC	0.682																																							0											0													32.0	38.0	36.0					16																	31473623		2158	4261	6419	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.755C>G	16.37:g.31473623C>G	ENSP00000456877:p.Ala252Gly		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.A347G	ENST00000563544.1	37	c.1040	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	c	13.84	2.358419	0.41801	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.53	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.188214	0.47455	D	0.000229	T	0.13457	0.0326	N	0.12182	0.205	0.80722	D	1	B;B;B;P	0.42248	0.058;0.065;0.058;0.774	B;B;B;B	0.39419	0.051;0.069;0.051;0.299	T	0.04991	-1.0913	10	0.33141	T	0.24	-16.6344	9.5679	0.39409	0.0:0.8959:0.0:0.1041	.	284;347;252;252	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	G	347;284;252;252	ENSP00000386125:A347G;ENSP00000443995:A284G;ENSP00000268314:A252G;ENSP00000399561:A252G	ENSP00000268314:A252G	A	+	2	0	ARMC5	31381124	0.267000	0.24122	0.991000	0.47740	0.670000	0.39368	1.400000	0.34577	2.064000	0.61679	0.457000	0.33378	GCT	0	superfamily_ARM-type_fold,smart_Armadillo		0.682	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	protein_coding	OTTHUMT00000432847.1	10	47	0	0.00	0	0	C	NM_024742	0	0		31473623	1	no_errors	ENST00000408912	ensembl	human	known	74_37	missense	6	31	53.85	20.51	7	8	SNP	1	G
KLHDC4	54758	genome.wustl.edu	37	16	87743034	87743034	+	Silent	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr16:87743034C>T	ENST00000270583.5	-	10	1342	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	KLHDC4_ENST00000353170.5_Silent_p.G371G|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Silent_p.G397G	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	428										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTGGACACGGCCCAGGTGCGG	0.677																																							0											0													59.0	62.0	61.0					16																	87743034		2198	4299	6497	SO:0001819	synonymous_variant	0			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1284G>A	16.37:g.87743034C>T			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.G428	ENST00000270583.5	37	c.1284	CCDS10963.1	16																																																																																			0	NULL		0.677	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	protein_coding	OTTHUMT00000269109.2	69	54	0	0.00	0	0	C	NM_017566	0	0		87743034	-1	no_errors	ENST00000270583	ensembl	human	known	74_37	silent	29	42	45.28	31.15	24	19	SNP	1	T
MBTD1	54799	genome.wustl.edu	37	17	49302425	49302425	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr17:49302425G>C	ENST00000586178.1	-	3	441	c.98C>G	c.(97-99)cCg>cGg	p.P33R	MBTD1_ENST00000593259.1_5'Flank|MBTD1_ENST00000415868.1_Missense_Mutation_p.P33R|MBTD1_ENST00000376381.2_Missense_Mutation_p.P33R	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	33					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTTGATAATCGGGAGATTAGA	0.443																																							0											0													160.0	145.0	150.0					17																	49302425		692	1591	2283	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.98C>G	17.37:g.49302425G>C	ENSP00000468304:p.Pro33Arg		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.P33R	ENST00000586178.1	37	c.98	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910570	0.92107	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.24723	1.87;1.84	5.21	5.21	0.72293	.	0.052015	0.85682	D	0.000000	T	0.32010	0.0815	N	0.14661	0.345	0.80722	D	1	D;D	0.61080	0.966;0.989	P;P	0.60473	0.619;0.875	T	0.09662	-1.0664	10	0.31617	T	0.26	.	19.0934	0.93238	0.0:0.0:1.0:0.0	.	33;33	Q05BQ5;Q05BQ5-2	MBTD1_HUMAN;.	R	33	ENSP00000403946:P33R;ENSP00000365561:P33R	ENSP00000365561:P33R	P	-	2	0	MBTD1	46657424	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.772000	0.98984	2.586000	0.87340	0.591000	0.81541	CCG	0	NULL		0.443	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	protein_coding	OTTHUMT00000318124.1	52	301	0	0.00	0	0	G		0	0		49302425	-1	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	16	154	63.64	59.64	28	229	SNP	1	C
ZNF814	730051	genome.wustl.edu	37	19	58386226	58386226	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr19:58386226C>T	ENST00000435989.2	-	3	766	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	178					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GGCAAAAAGTCCTTCCCACTC	0.517																																							0											0													67.0	53.0	57.0					19																	58386226		692	1589	2281	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.532G>A	19.37:g.58386226C>T	ENSP00000410545:p.Asp178Asn		A6NF35	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.D178N	ENST00000435989.2	37	c.532	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342131	0.41498	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.10288	2.89	2.56	2.56	0.30785	.	.	.	.	.	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.57911	0.829	T	0.19549	-1.0302	9	0.21014	T	0.42	.	6.7285	0.23371	0.2805:0.7195:0.0:0.0	.	178	B7Z6K7	ZN814_HUMAN	N	178	ENSP00000410545:D178N	ENSP00000365378:D178N	D	-	1	0	ZNF814	63078038	0.000000	0.05858	0.008000	0.14137	0.042000	0.13812	0.096000	0.15147	1.744000	0.51775	0.305000	0.20034	GAC	0	NULL		0.517	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	protein_coding	OTTHUMT00000466976.1	82	147	0	0.00	0	0	C	XM_001725708	0	0		58386226	-1	no_errors	ENST00000435989	ensembl	human	known	74_37	missense	25	73	48.98	39.67	24	48	SNP	0.004	T
PREX1	57580	genome.wustl.edu	37	20	47261018	47261018	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr20:47261018C>T	ENST00000371941.3	-	27	3552	c.3530G>A	c.(3529-3531)cGa>cAa	p.R1177Q	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.R1177Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GACCGAGTCTCGATTGCTGTT	0.587																																							0											0													94.0	75.0	81.0					20																	47261018		2203	4300	6503	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3530G>A	20.37:g.47261018C>T	ENSP00000361009:p.Arg1177Gln		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R1177Q	ENST00000371941.3	37	c.3530	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.484109	0.96307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38722	1.12;1.12	5.14	5.14	0.70334	.	0.000000	0.49305	U	0.000154	T	0.63885	0.2549	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61816	-0.6985	10	0.36615	T	0.2	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1177;474	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1177	ENSP00000361009:R1177Q;ENSP00000379522:R1177Q	ENSP00000361009:R1177Q	R	-	2	0	PREX1	46694425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.398000	0.81561	0.655000	0.94253	CGA	0	NULL		0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	28	116	0	0.00	0	0	C	NM_020820	0	0		47261018	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	19	64	17.39	39.62	4	42	SNP	1	T
ANTXR2	118429	genome.wustl.edu	37	4	80993628	80993628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr4:80993628delC	ENST00000307333.7	-	1	89	c.87delG	c.(85-87)gggfs	p.G29fs	ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.G29fs|ANTXR2_ENST00000295465.4_Frame_Shift_Del_p.G29fs|ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.G29fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	29					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CGCGCAGCAGCCCCCCGGGAC	0.706									Juvenile Hyaline Fibromatosis																														0											0													21.0	24.0	23.0					4																	80993628		1903	4101	6004	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.87delG	4.37:g.80993628delC	ENSP00000306185:p.Gly29fs		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A	p.L30fs	ENST00000307333.7	37	c.87	CCDS47086.1	4																																																																																			0	pirsf_Anthrax_toxin_rcpt		0.706	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	protein_coding	OTTHUMT00000324663.1	32	23	0	0.00	0	0	C	NM_058172	0	0		80993628	-1	no_errors	ENST00000307333	ensembl	human	known	74_37	frame_shift_del	24	15	11.11	11.76	3	2	DEL	0.017	0
CYP2B6	1555	genome.wustl.edu	37	19	41510064	41510064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr19:41510064delA	ENST00000324071.4	+	2	337	c.330delA	c.(328-330)ggafs	p.G110fs	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Frame_Shift_Del_p.G70fs|CYP2B6_ENST00000593831.1_Frame_Shift_Del_p.G34fs	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	110					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCTTCCGGGGATATGGTGAGA	0.597																																							0											0													51.0	54.0	53.0					19																	41510064		2203	4300	6503	SO:0001589	frameshift_variant	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.330delA	19.37:g.41510064delA	ENSP00000324648:p.Gly110fs		B4DWP3|Q2V565|Q9UK46	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.Y111fs	ENST00000324071.4	37	c.330	CCDS12570.1	19																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.597	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	protein_coding	OTTHUMT00000463260.1	38	58	0	0.00	0	0	A	NM_000767	0	0		41510064	1	no_errors	ENST00000324071	ensembl	human	known	74_37	frame_shift_del	19	27	44.12	27.03	15	10	DEL	0	0
SMG1P1	641298	genome.wustl.edu	37	16	22470712	22470712	+	IGR	SNP	C	C	T			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr16:22470712C>T								RRN3P3 (21676 upstream) : SMG1P1 (15645 downstream)																							TCTCGACTGTCATATCTTCTT	0.368																																							0											0																																										SO:0001628	intergenic_variant	0																															16.37:g.22470712C>T				RNA	SNP	0	NULL		37	NULL		16																																																																																			0	0	0	0.368					SMG1P1			27	4	0	0.00	0	0	C		0	0		22470712	1	no_errors	ENST00000308347	ensembl	human	known	74_37	rna	13	2	18.75	0.00	3	0	SNP	1	T
WASH6P	653440	genome.wustl.edu	37	X	155251290	155251292	+	RNA	DEL	AGG	AGG	-			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chrX:155251290_155251292delAGG	ENST00000461007.1	+	0	298_300				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGTTAGAAGCAGGAGGTGTGCAG	0.645														576	0.115016	0.1293	0.1542	5008	,	,		20575	0.006		0.1839	False		,,,				2504	0.1094						0											0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155251293_155251295delAGG			A6NGF1|Q8N305	RNA	DEL	0	NULL	ENST00000461007.1	37	NULL		X																																																																																			0	0		0.645	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	pseudogene	OTTHUMT00000058840.1	9	0	0	0.00	0	0	AGG	NG_008380	0	0		155251292	1	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	6	0	33.33	0.00	3	0	DEL	0.512:0.578:0.601	0
CNOT6	57472	genome.wustl.edu	37	5	179921603	179921603	+	5'UTR	DEL	G	G	-			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr5:179921603delG	ENST00000393356.1	+	0	94				CNOT6_ENST00000261951.4_5'UTR			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GGCTCTCGGAGGGGGAACAAA	0.746																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.-331G>-	5.37:g.179921603delG			A7MD46|D3DWR0	RNA	DEL	0	NULL	ENST00000393356.1	37	NULL	CCDS4455.1	5																																																																																			0	0		0.746	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	protein_coding	OTTHUMT00000253532.1	11	11	0	0.00	0	0	G	NM_015455	0	0		179921603	1	no_errors	ENST00000507016	ensembl	human	putative	74_37	rna	3	10	40	0.00	2	0	DEL	0.997	0
