#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
RGS6	9628	genome.wustl.edu	37	14	72943466	72943466	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr14:72943466C>A	ENST00000553530.1	+	11	917	c.710C>A	c.(709-711)aCt>aAt	p.T237N	RGS6_ENST00000404301.2_Missense_Mutation_p.T237N|RGS6_ENST00000402788.2_Missense_Mutation_p.T237N|RGS6_ENST00000343854.6_Missense_Mutation_p.T237N|RGS6_ENST00000355512.6_Missense_Mutation_p.T237N|RGS6_ENST00000554782.1_Missense_Mutation_p.T98N|RGS6_ENST00000407322.4_Missense_Mutation_p.T237N|RGS6_ENST00000555571.1_Missense_Mutation_p.T237N|RGS6_ENST00000553525.1_Missense_Mutation_p.T237N|RGS6_ENST00000556437.1_Missense_Mutation_p.T237N|RGS6_ENST00000406236.4_Missense_Mutation_p.T237N|RGS6_ENST00000434263.2_Missense_Mutation_p.T168N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	237					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TATGGCGTGACTGAAGAGTCC	0.512													ENSG00000182732																									Ovarian(143;1926 2468 21071 48641)												0													125.0	107.0	113.0					14																	72943466		2203	4300	6503	SO:0001583	missense	0			-	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.710C>A	14.37:g.72943466C>A	ENSP00000452331:p.Thr237Asn		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.T237N	ENST00000553530.1	37	c.710	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188271	0.21954	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.7;1.56;1.56;1.7;1.56;1.7;1.7;1.7;1.56;1.53;1.63;1.71	5.41	5.41	0.78517	.	0.247499	0.48767	D	0.000173	T	0.21468	0.0517	N	0.14661	0.345	0.39841	D	0.973114	B;B;B;B	0.29378	0.243;0.003;0.105;0.001	B;B;B;B	0.28465	0.09;0.005;0.028;0.002	T	0.07195	-1.0785	10	0.20046	T	0.44	-2.691	19.5424	0.95280	0.0:1.0:0.0:0.0	.	168;237;242;237	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	N	237;237;237;237;237;237;237;237;237;237;209;168;98;98	ENSP00000451030:T237N;ENSP00000450936:T237N;ENSP00000452331:T237N;ENSP00000451855:T237N;ENSP00000347699:T237N;ENSP00000385243:T237N;ENSP00000384218:T237N;ENSP00000384612:T237N;ENSP00000383953:T237N;ENSP00000341199:T237N;ENSP00000412144:T168N;ENSP00000451912:T98N	ENSP00000341199:T237N	T	+	2	0	RGS6	72013219	0.107000	0.21998	0.991000	0.47740	0.367000	0.29736	2.619000	0.46401	2.706000	0.92434	0.561000	0.74099	ACT	-	RGS6	-	NULL		0.512	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	0	0	0	42	42	82	0.00	0.00	C			72943466	+1	7	10	20	58	tier1	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	25.93	14.71	SNP	0.862	A	7	20
RNF213	57674	genome.wustl.edu	37	17	78338308	78338308	+	Silent	SNP	C	C	G	rs182733073	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr17:78338308C>G	ENST00000582970.1	+	42	11969	c.11826C>G	c.(11824-11826)ccC>ccG	p.P3942P	RNF213_ENST00000336301.6_Silent_p.P2015P|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.P3991P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3942					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCGCGTCCCCGAGTTACAGG	0.582													ENSG00000173821																																					0													74.0	69.0	71.0					17																	78338308		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11826C>G	17.37:g.78338308C>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P3942	ENST00000582970.1	37	c.11826	CCDS58606.1	17																																																																																			-	RNF213	-	NULL		0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	0	0	0	26	26	67	0.00	0.00	C	NM_020914		78338308	+1	6	11	15	31	tier1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	28.57	26.19	SNP	0.037	G	6	15
LRP2	4036	genome.wustl.edu	37	2	170028641	170028641	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:170028641T>A	ENST00000263816.3	-	58	11432	c.11147A>T	c.(11146-11148)gAg>gTg	p.E3716V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3716	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCATGTCCTCTCCTCTGCAAA	0.448													ENSG00000081479																																					0													98.0	89.0	92.0					2																	170028641		2203	4300	6503	SO:0001583	missense	0			-		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11147A>T	2.37:g.170028641T>A	ENSP00000263816:p.Glu3716Val		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3716V	ENST00000263816.3	37	c.11147	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364819	0.41902	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.90197	-2.63	5.82	-3.56	0.04626	.	0.471664	0.24635	N	0.036844	D	0.85613	0.5737	L	0.43152	1.355	0.31928	N	0.612559	B	0.32781	0.384	B	0.30646	0.118	T	0.71533	-0.4564	10	0.30078	T	0.28	.	20.8481	0.99727	0.0:0.0:0.7246:0.2754	.	3716	P98164	LRP2_HUMAN	V	3716;411	ENSP00000263816:E3716V	ENSP00000263816:E3716V	E	-	2	0	LRP2	169736887	0.978000	0.34361	0.003000	0.11579	0.901000	0.52897	1.865000	0.39479	-0.882000	0.03987	0.460000	0.39030	GAG	-	LRP2	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	0	0	0	41	41	76	0.00	0.00	T	NM_004525		170028641	-1	11	15	42	38	tier1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	20.75	28.30	SNP	0.097	A	11	42
EPHA7	2045	genome.wustl.edu	37	6	93953228	93953228	+	Silent	SNP	A	A	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:93953228A>G	ENST00000369303.4	-	17	3097	c.2913T>C	c.(2911-2913)gtT>gtC	p.V971V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	971	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGATGACCAACCAGTGTGA	0.373													ENSG00000135333																																					0													269.0	226.0	240.0					6																	93953228		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2913T>C	6.37:g.93953228A>G			A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V971	ENST00000369303.4	37	c.2913	CCDS5031.1	6																																																																																			-	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	0	0	0	45	45	97	0.00	0.00	A			93953228	-1	9	21	36	46	tier1	no_errors	ENST00000369303	ensembl	human	known	74_37	silent	20.00	31.34	SNP	1.000	G	9	36
CCDC51	79714	genome.wustl.edu	37	3	48475279	48475279	+	Silent	SNP	A	A	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:48475279A>G	ENST00000395694.2	-	3	400	c.315T>C	c.(313-315)gcT>gcC	p.A105A	CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000395696.1_Silent_p.A105A|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	105						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACACTTTCTCAGCCTGCAAAG	0.592													ENSG00000164051																																					0													72.0	78.0	76.0					3																	48475279		2037	4183	6220	SO:0001819	synonymous_variant	0			-	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.315T>C	3.37:g.48475279A>G			Q9HA01	Silent	SNP	NULL	p.A105	ENST00000395694.2	37	c.315	CCDS2766.2	3																																																																																			-	CCDC51	-	NULL		0.592	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	HGNC	protein_coding	OTTHUMT00000344599.2	0	0	0	32	32	84	0.00	0.00	A	NM_024661		48475279	-1	22	76	17	44	tier1	no_errors	ENST00000395694	ensembl	human	known	74_37	silent	56.41	63.33	SNP	0.764	G	22	17
ANK1	286	genome.wustl.edu	37	8	41580669	41580669	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr8:41580669C>T	ENST00000347528.4	-	9	966	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	ANK1_ENST00000379758.2_Missense_Mutation_p.G295R|ANK1_ENST00000289734.7_Missense_Mutation_p.G295R|ANK1_ENST00000396942.1_Missense_Mutation_p.G295R|ANK1_ENST00000352337.4_Missense_Mutation_p.G295R|ANK1_ENST00000396945.1_Missense_Mutation_p.G295R|ANK1_ENST00000265709.8_Missense_Mutation_p.G328R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	295	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G295W(1)|p.G328W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATTGGTGCCCCGTGGTCCAGC	0.502													ENSG00000029534																																					2	Substitution - Missense(2)	lung(2)											148.0	127.0	134.0					8																	41580669		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.883G>A	8.37:g.41580669C>T	ENSP00000339620:p.Gly295Arg		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G295R	ENST00000347528.4	37	c.883	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833777	0.91036	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.41	4.53	0.55603	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.992;1.0	D	0.92076	0.5668	10	0.66056	D	0.02	.	14.1065	0.65093	0.0:0.9272:0.0:0.0728	.	328;295;295;295;295	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	R	295;295;295;295;295;295;328;295	ENSP00000339620:G295R;ENSP00000289734:G295R;ENSP00000369082:G295R;ENSP00000380149:G295R;ENSP00000380147:G295R;ENSP00000309131:G295R;ENSP00000265709:G328R	ENSP00000265709:G328R	G	-	1	0	ANK1	41699826	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.070000	0.71220	1.287000	0.44583	0.655000	0.94253	GGG	-	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0	0	58	58	108	0.00	0.00	C	NM_020475		41580669	-1	37	99	53	47	tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	41.11	67.81	SNP	1.000	T	37	53
DPP6	1804	genome.wustl.edu	37	7	154002609	154002609	+	Intron	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:154002609G>A	ENST00000377770.3	+	2	384				DPP6_ENST00000406326.1_Intron|DPP6_ENST00000332007.3_Silent_p.S10S|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Silent_p.S10S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAAGCGCTTCGGGGAAATCCG	0.612													ENSG00000130226																									NSCLC(125;1384 1783 2490 7422 34254)												0													53.0	60.0	58.0					7																	154002609		1568	3579	5147	SO:0001627	intron_variant	0			-	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.244-140690G>A	7.37:g.154002609G>A				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S10	ENST00000377770.3	37	c.30		7																																																																																			-	DPP6	-	NULL		0.612	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	0	0	0	46	46	68	0.00	0.00	G	NM_130797		154002609	+1	8	6	33	36	tier1	no_errors	ENST00000332007	ensembl	human	known	74_37	silent	19.05	14.29	SNP	0.717	A	8	33
CA5B	11238	genome.wustl.edu	37	X	15790632	15790632	+	Silent	SNP	A	A	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:15790632A>G	ENST00000318636.3	+	4	490	c.354A>G	c.(352-354)ggA>ggG	p.G118G	CA5B_ENST00000454127.2_Silent_p.G118G	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	72				KHWVRIRPLRT -> SRRTARSPTS (in Ref. 3; BC021816). {ECO:0000305}.		mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGGGAGGACCCCTGGAAC	0.512													ENSG00000169239																																					0													148.0	130.0	136.0					X																	15790632		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.354A>G	X.37:g.15790632A>G			A6NEZ4	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.G118	ENST00000318636.3	37	c.354	CCDS14171.1	X																																																																																			-	CA5B	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.512	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	HGNC	protein_coding	OTTHUMT00000354933.1	0	0	0	73	73	99	0.00	0.00	A	NM_007220		15790632	+1	28	36	39	49	tier1	no_errors	ENST00000318636	ensembl	human	known	74_37	silent	41.79	42.35	SNP	0.993	G	28	39
TPMT	7172	genome.wustl.edu	37	6	18130957	18130957	+	Missense_Mutation	SNP	T	T	C	rs372305203		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:18130957T>C	ENST00000309983.4	-	9	765	c.680A>G	c.(679-681)cAt>cGt	p.H227R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	227			H -> Q (in TPMT deficiency; allele TPMT*7; reduced activity; dbSNP:rs72552736). {ECO:0000269|PubMed:16220112, ECO:0000269|PubMed:9711875}.		methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CCAACTTTTATGTCGTTCTTC	0.294													ENSG00000137364																									Colon(190;1381 2791 16728 32493)												0													99.0	99.0	99.0					6																	18130957		2203	4299	6502	SO:0001583	missense	0			-		CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.680A>G	6.37:g.18130957T>C	ENSP00000312304:p.His227Arg		O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.H227R	ENST00000309983.4	37	c.680	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560682	0.65538	.	.	ENSG00000137364	ENST00000309983	T	0.61859	0.07	5.92	4.71	0.59529	.	0.202657	0.52532	D	0.000078	T	0.58192	0.2105	L	0.59436	1.845	0.41890	D	0.990369	D	0.67145	0.996	D	0.64595	0.927	T	0.55897	-0.8068	10	0.25751	T	0.34	-16.8497	11.493	0.50391	0.1341:0.0:0.0:0.8659	.	227	P51580	TPMT_HUMAN	R	227	ENSP00000312304:H227R	ENSP00000312304:H227R	H	-	2	0	TPMT	18238936	0.986000	0.35501	0.402000	0.26371	0.965000	0.64279	3.227000	0.51262	2.270000	0.75569	0.477000	0.44152	CAT	-	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase		0.294	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1	0	0	0	48	48	40	0.00	0.00	T			18130957	-1	14	18	27	15	tier1	no_errors	ENST00000309983	ensembl	human	known	74_37	missense	34.15	54.55	SNP	0.713	C	14	27
SMCO3	440087	genome.wustl.edu	37	12	14959393	14959393	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:14959393C>T	ENST00000316048.2	-	2	294	c.222G>A	c.(220-222)atG>atA	p.M74I	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron|WBP11_ENST00000261167.2_5'Flank	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	74						integral component of membrane (GO:0016021)											TTTGGATTTTCATAATGGCTT	0.408													ENSG00000179256																																					0													174.0	160.0	164.0					12																	14959393		1874	4109	5983	SO:0001583	missense	0			-		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.222G>A	12.37:g.14959393C>T	ENSP00000381895:p.Met74Ile		Q8NAI5	Missense_Mutation	SNP	NULL	p.M74I	ENST00000316048.2	37	c.222	CCDS41759.1	12	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367523	0.11352	.	.	ENSG00000179256	ENST00000316048	T	0.14266	2.52	5.1	2.13	0.27403	.	0.929646	0.08796	U	0.892514	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.38457	-0.9660	10	0.48119	T	0.1	-3.889	7.1892	0.25816	0.0:0.7387:0.0:0.2613	.	74	A2RU48	CL069_HUMAN	I	74	ENSP00000381895:M74I	ENSP00000381895:M74I	M	-	3	0	C12orf69	14850660	0.000000	0.05858	0.000000	0.03702	0.403000	0.30841	-0.038000	0.12144	0.254000	0.21573	0.555000	0.69702	ATG	-	SMCO3	-	NULL		0.408	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCO3	HGNC	protein_coding	OTTHUMT00000394738.1	0	0	0	105	105	87	0.00	0.00	C	NM_001013698		14959393	-1	17	14	85	72	tier1	no_errors	ENST00000316048	ensembl	human	known	74_37	missense	16.67	16.28	SNP	0.000	T	17	85
FMN2	56776	genome.wustl.edu	37	1	240370168	240370168	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:240370168C>A	ENST00000319653.9	+	5	2286	c.2056C>A	c.(2056-2058)Ctg>Atg	p.L686M		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	686					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L829M(1)|p.L829V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATTGAGGATCTGAGAACCAA	0.507													ENSG00000155816																																					2	Substitution - Missense(2)	stomach(1)|lung(1)											64.0	66.0	65.0					1																	240370168		2203	4300	6503	SO:0001583	missense	0			-	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2056C>A	1.37:g.240370168C>A	ENSP00000318884:p.Leu686Met		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L686M	ENST00000319653.9	37	c.2056	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938632	0.34189	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80123	-1.34;0.79	5.64	3.77	0.43336	.	0.000000	0.49916	D	0.000121	D	0.87362	0.6158	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87557	0.2469	10	0.87932	D	0	.	8.8713	0.35318	0.0:0.7776:0.0:0.2224	.	686	Q9NZ56	FMN2_HUMAN	M	123;686	ENSP00000409308:L123M;ENSP00000318884:L686M	ENSP00000318884:L686M	L	+	1	2	FMN2	238436791	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.600000	0.46240	1.388000	0.46506	0.655000	0.94253	CTG	-	FMN2	-	NULL		0.507	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	0	0	1	44	44	104	0.00	0.95	C	XM_371352		240370168	+1	6	11	33	53	tier1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	15.38	17.19	SNP	1.000	A	6	33
PTAR1	375743	genome.wustl.edu	37	9	72338327	72338327	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr9:72338327G>C	ENST00000340434.4	-	6	865	c.862C>G	c.(862-864)Ctt>Gtt	p.L288V	PTAR1_ENST00000377200.5_Missense_Mutation_p.L209V	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	288					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGATGGGGAAGATTAATCCTT	0.418													ENSG00000188647																																					0													167.0	162.0	164.0					9																	72338327		1864	4102	5966	SO:0001583	missense	0			-	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.862C>G	9.37:g.72338327G>C	ENSP00000344299:p.Leu288Val		Q5T7V5|Q5T7V6	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.L288V	ENST00000340434.4	37	c.862	CCDS47978.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294568|2.294568	0.40594|0.40594	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000377200;ENST00000340434|ENST00000415701	T;T|.	0.46063|.	0.88;0.88|.	5.54|5.54	4.62|4.62	0.57501|0.57501	Protein prenyltransferase (1);|.	0.291823|.	0.34200|.	N|.	0.004176|.	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.17465|.	0.022|.	B|.	0.15052|.	0.012|.	T|T	0.50363|0.50363	-0.8837|-0.8837	10|5	0.15499|.	T|.	0.54|.	-17.5765|-17.5765	14.9001|14.9001	0.70672|0.70672	0.0:0.0:0.719:0.281|0.0:0.0:0.719:0.281	.|.	288|.	Q7Z6K3|.	PTAR1_HUMAN|.	V|C	209;288|54	ENSP00000366405:L209V;ENSP00000344299:L288V|.	ENSP00000344299:L288V|.	L|S	-|-	1|2	0|0	PTAR1|PTAR1	71528147|71528147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	1.513000|1.513000	0.35823|0.35823	1.392000|1.392000	0.46585|0.46585	0.655000|0.655000	0.94253|0.94253	CTT|TCT	-	PTAR1	-	NULL		0.418	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	0	0	0	81	81	95	0.00	0.00	G	NM_001099666		72338327	-1	9	17	61	87	tier1	no_errors	ENST00000340434	ensembl	human	known	74_37	missense	12.86	16.35	SNP	1.000	C	9	61
OR9G4	283189	genome.wustl.edu	37	11	56510497	56510497	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr11:56510497A>T	ENST00000302957.3	-	1	790	c.791T>A	c.(790-792)aTg>aAg	p.M264K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAGAAGAGCATGACTGAGAT	0.468													ENSG00000172457																																					0													180.0	141.0	154.0					11																	56510497		2201	4296	6497	SO:0001583	missense	0			-	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.791T>A	11.37:g.56510497A>T	ENSP00000307515:p.Met264Lys		Q6IF62|Q96RA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M264K	ENST00000302957.3	37	c.791	CCDS31537.1	11	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749534	0.30955	.	.	ENSG00000172457	ENST00000302957	T	0.38077	1.16	5.07	0.0264	0.14150	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.27663	0.0680	L	0.52011	1.625	0.09310	N	0.999996	P	0.38677	0.642	B	0.34652	0.187	T	0.17837	-1.0356	10	0.72032	D	0.01	-19.0574	9.3858	0.38342	0.5311:0.0:0.4689:0.0	.	264	Q8NGQ1	OR9G4_HUMAN	K	264	ENSP00000307515:M264K	ENSP00000307515:M264K	M	-	2	0	OR9G4	56267073	0.000000	0.05858	0.926000	0.36857	0.818000	0.46254	-0.410000	0.07151	0.075000	0.16796	-0.288000	0.09946	ATG	-	OR9G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G4	HGNC	protein_coding	OTTHUMT00000391945.1	0	0	0	45	45	60	0.00	0.00	A	NM_001005284		56510497	-1	11	6	33	31	tier1	no_errors	ENST00000302957	ensembl	human	known	74_37	missense	25.00	16.22	SNP	0.092	T	11	33
SLC4A8	9498	genome.wustl.edu	37	12	51864185	51864185	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:51864185G>C	ENST00000453097.2	+	13	1751	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	SLC4A8_ENST00000394856.1_Missense_Mutation_p.E459Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E459Q|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E459Q|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E539Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGTGCAATTGAATCCTTGTT	0.463													ENSG00000050438																																					0													205.0	182.0	189.0					12																	51864185		2203	4300	6503	SO:0001583	missense	0			-	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1534G>C	12.37:g.51864185G>C	ENSP00000405812:p.Glu512Gln			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E512Q	ENST00000453097.2	37	c.1534	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914989	0.92178	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.36	5.36	0.76844	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94345	0.8182	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.998;0.999;0.995;0.994;0.994	D	0.95290	0.8394	10	0.87932	D	0	.	18.2369	0.89952	0.0:0.0:1.0:0.0	.	459;539;459;512;512;512	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	Q	459;539;512;459;512;459;459	ENSP00000441520:E459Q;ENSP00000351483:E539Q;ENSP00000405812:E512Q;ENSP00000378325:E459Q;ENSP00000442561:E459Q	ENSP00000315789:E512Q	E	+	1	0	SLC4A8	50150452	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GAA	-	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	0	0	0	105	105	110	0.00	0.00	G	NM_004858		51864185	+1	287	320	1731	1909	tier1	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	14.22	14.32	SNP	1.000	C	287	1731
SCN8A	6334	genome.wustl.edu	37	12	52201083	52201083	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:52201083C>T	ENST00000354534.6	+	27	5991	c.5813C>T	c.(5812-5814)aCc>aTc	p.T1938I	AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.T1897I|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1938					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAAGAGAGCACCCCATCTACA	0.512													ENSG00000196876																																					0													56.0	62.0	60.0					12																	52201083		1941	4140	6081	SO:0001583	missense	0			-	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5813C>T	12.37:g.52201083C>T	ENSP00000346534:p.Thr1938Ile		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T1938I	ENST00000354534.6	37	c.5813	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911651	0.33721	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96587	-4.03;-4.06	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.97146	0.9828	10	0.62326	D	0.03	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	1938	Q9UQD0	SCN8A_HUMAN	I	1938;1897	ENSP00000346534:T1938I;ENSP00000440360:T1897I	ENSP00000346534:T1938I	T	+	2	0	SCN8A	50487350	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.762000	0.68809	2.840000	0.97914	0.655000	0.94253	ACC	-	SCN8A	-	NULL		0.512	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	0	0	0	20	20	123	0.00	0.00	C	NM_014191		52201083	+1	22	98	42	230	tier1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	34.38	29.79	SNP	1.000	T	22	42
RSBN1L	222194	genome.wustl.edu	37	7	77398005	77398005	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:77398005A>T	ENST00000334955.8	+	5	1537	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S234C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	504						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACGCTATCTAGTCTAAAATT	0.378													ENSG00000187257																																					0													105.0	96.0	99.0					7																	77398005		1918	4131	6049	SO:0001583	missense	0			-	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1510A>T	7.37:g.77398005A>T	ENSP00000334040:p.Ser504Cys		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.S504C	ENST00000334955.8	37	c.1510	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489931	0.84962	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.67898	-0.5551	9	0.48119	T	0.1	-14.6999	16.3604	0.83263	1.0:0.0:0.0:0.0	.	504	Q6PCB5	RSBNL_HUMAN	C	504;234;42;10	.	ENSP00000334040:S504C	S	+	1	0	RSBN1L	77235941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.194000	0.94962	2.260000	0.74910	0.528000	0.53228	AGT	-	RSBN1L	-	NULL		0.378	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	0	0	0	61	61	51	0.00	0.00	A	NM_198467		77398005	+1	5	6	27	41	tier1	no_errors	ENST00000334955	ensembl	human	known	74_37	missense	15.62	12.77	SNP	1.000	T	5	27
ARMCX4	100131755	genome.wustl.edu	37	X	100746799	100746799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:100746799G>T	ENST00000423738.3	+	2	3425	c.3223G>T	c.(3223-3225)Gag>Tag	p.E1075*		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	291						integral component of membrane (GO:0016021)				lung(1)	1						GCCCACTTCTGAGAGTGAGGG	0.542													ENSG00000196440																																					0																																										SO:0001587	stop_gained	0			-	AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.3223G>T	X.37:g.100746799G>T	ENSP00000404304:p.Glu1075*		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.E1075*	ENST00000423738.3	37	c.3223	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	40	8.311545	0.98754	.	.	ENSG00000196440	ENST00000423738	.	.	.	4.59	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9715	0.05924	0.2349:0.0:0.5468:0.2184	.	.	.	.	X	1179	.	.	E	+	1	0	ARMCX4	100633455	0.455000	0.25736	0.103000	0.21229	0.069000	0.16628	1.846000	0.39289	1.014000	0.39417	0.589000	0.80489	GAG	-	ARMCX4	-	NULL		0.542	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	0	0	0	57	57	56	0.00	0.00	G	NM_001256155		100746799	+1	20	9	37	26	tier1	no_errors	ENST00000423738	ensembl	human	putative	74_37	nonsense	35.09	25.71	SNP	0.025	T	20	37
LPHN2	23266	genome.wustl.edu	37	1	82416080	82416080	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:82416080G>A	ENST00000370728.1	+	9	2051	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	LPHN2_ENST00000370727.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.C407Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.C469Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.C469Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.C469Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.C469Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.C469Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.C469Y			O95490	LPHN2_HUMAN	latrophilin 2	469					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAGAGATTCTGTGAAGCATTA	0.438													ENSG00000117114																																					0													74.0	77.0	76.0					1																	82416080		2203	4300	6503	SO:0001583	missense	0			-	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1406G>A	1.37:g.82416080G>A	ENSP00000359763:p.Cys469Tyr		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.C469Y	ENST00000370728.1	37	c.1406		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720862|3.720862	0.68959|0.68959	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85639|0.85639	0.5743|0.5743	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.79784|.	0.993;0.982;0.986|.	D|D	0.87908|0.87908	0.2695|0.2695	10|5	0.87932|.	D|.	0|.	.|.	20.2422|20.2422	0.98381|0.98381	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	469;469;469|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|M	407;469;469;469;469;469;469;469;469;469;469;469;469;469|337	ENSP00000359756:C407Y;ENSP00000359763:C469Y;ENSP00000359765:C469Y;ENSP00000359762:C469Y;ENSP00000359760:C469Y;ENSP00000359758:C469Y;ENSP00000353006:C469Y;ENSP00000359750:C469Y;ENSP00000359748:C469Y;ENSP00000322270:C469Y;ENSP00000359752:C469Y;ENSP00000378344:C469Y;ENSP00000271029:C469Y;ENSP00000337306:C469Y|.	ENSP00000271029:C469Y|.	C|V	+|+	2|1	0|0	LPHN2|LPHN2	82188668|82188668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.230000|9.230000	0.95299|0.95299	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	TGT|GTG	-	LPHN2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	0	0	0	30	30	101	0.00	0.00	G	NM_012302		82416080	+1	9	43	18	57	tier1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	33.33	43.00	SNP	1.000	A	9	18
QARS	5859	genome.wustl.edu	37	3	49136973	49136973	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:49136973A>C	ENST00000306125.6	-	16	1833	c.1496T>G	c.(1495-1497)aTc>aGc	p.I499S	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.I488S			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	499					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAGCTGGAGGATCTTCCTCTT	0.517													ENSG00000172053																																					0													105.0	105.0	105.0					3																	49136973		2203	4300	6503	SO:0001583	missense	0			-	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1496T>G	3.37:g.49136973A>C	ENSP00000307567:p.Ile499Ser		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tR-synth_Ib_cat-dom,pfam_Gln-tR-synth_Ib_R-bd_N,pfam_Glu/Gln-tR-synth_Ib_codon-bd,pfam_Gln-tR-synth_Ib_R-bd_2,superfamily_Ribosomal_L25/Gln-tR_synth,prints_Glu/Gln-tR-synth,tigrfam_Gln-tR-synth	p.I499S	ENST00000306125.6	37	c.1496	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363803	0.82353	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.21543	2.0;2.0;2.0	5.86	5.86	0.93980	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75144	-0.3421	10	0.87932	D	0	-19.7403	16.255	0.82510	1.0:0.0:0.0:0.0	.	488;499	B4DWJ2;P47897	.;SYQ_HUMAN	S	19;499;488	ENSP00000396326:I19S;ENSP00000307567:I499S;ENSP00000390015:I488S	ENSP00000307567:I499S	I	-	2	0	QARS	49111977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	2.240000	0.73641	0.533000	0.62120	ATC	-	QARS	-	pfam_Glu/Gln-tR-synth_Ib_cat-dom,tigrfam_Gln-tR-synth		0.517	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	0	0	0	56	56	86	0.00	0.00	A	NM_005051		49136973	-1	13	29	59	58	tier1	no_errors	ENST00000306125	ensembl	human	known	74_37	missense	18.06	33.33	SNP	1.000	C	13	59
GRIPAP1	56850	genome.wustl.edu	37	X	48847665	48847665	+	Intron	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:48847665G>A	ENST00000376441.1	-	7	492				GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376425.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AAAGACGAAGGTTCAGCTCTA	0.493													ENSG00000068400																																					0																																										SO:0001627	intron_variant	0			-	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.458-143C>T	X.37:g.48847665G>A			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	R	SNP	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			-	GRIPAP1	-	-		0.493	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	0	0	0	15	15	97	0.00	0.00	G	NM_207672		48847665	-1	9	40	0	74	tier1	no_errors	ENST00000473581	ensembl	human	known	74_37	rna	100.00	35.09	SNP	0.002	A	9	0
UPF3A	65110	genome.wustl.edu	37	13	115048329	115048329	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr13:115048329A>T	ENST00000375299.3	+	3	388	c.332A>T	c.(331-333)tAc>tTc	p.Y111F	UPF3A_ENST00000351487.5_Missense_Mutation_p.Y111F	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	111	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CCTCATCTCTACTCAAGAGCA	0.338													ENSG00000169062																																					0													145.0	135.0	139.0					13																	115048329		2203	4298	6501	SO:0001583	missense	0			-	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.332A>T	13.37:g.115048329A>T	ENSP00000364448:p.Tyr111Phe		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.Y111F	ENST00000375299.3	37	c.332	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082716	0.36758	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.69175	-0.38;-0.38	4.63	4.63	0.57726	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.057634	0.64402	D	0.000002	T	0.36690	0.0976	N	0.02225	-0.63	0.43740	D	0.996239	B;P;B	0.37207	0.065;0.587;0.374	B;B;B	0.35859	0.071;0.178;0.212	T	0.31998	-0.9923	9	.	.	.	-10.6941	9.4687	0.38829	0.8421:0.0:0.0:0.1579	.	111;111;111	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	F	111	ENSP00000364448:Y111F;ENSP00000329592:Y111F	.	Y	+	2	0	UPF3A	114066431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.921000	0.63397	1.721000	0.51461	0.528000	0.53228	TAC	-	UPF3A	-	pfam_Nonsense_mediated_decay_UPF3		0.338	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	0	0	0	50	50	44	0.00	0.00	A			115048329	+1	14	18	22	14	tier1	no_errors	ENST00000375299	ensembl	human	known	74_37	missense	38.89	56.25	SNP	1.000	T	14	22
HSPA4L	22824	genome.wustl.edu	37	4	128726313	128726313	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr4:128726313C>G	ENST00000296464.4	+	9	1482	c.1071C>G	c.(1069-1071)ttC>ttG	p.F357L	HSPA4L_ENST00000439123.2_Missense_Mutation_p.F388L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.F357L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.F331L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	357					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCACTAAATTCTTTCTTAAAG	0.313													ENSG00000164070																																					0													54.0	54.0	54.0					4																	128726313		2203	4297	6500	SO:0001583	missense	0			-	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1071C>G	4.37:g.128726313C>G	ENSP00000296464:p.Phe357Leu		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.F388L	ENST00000296464.4	37	c.1164	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507772	0.44558	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.00892	5.57;5.57;5.57;5.57;5.57	4.71	2.98	0.34508	.	0.054132	0.85682	D	0.000000	T	0.02610	0.0079	L	0.41027	1.25	0.47374	D	0.999403	D;D;D	0.63046	0.99;0.992;0.992	D;D;D	0.76071	0.92;0.987;0.987	T	0.60403	-0.7270	10	0.56958	D	0.05	.	9.1766	0.37116	0.0:0.7407:0.0:0.2593	.	331;357;357	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	L	357;388;357;316;331	ENSP00000422482:F357L;ENSP00000393926:F388L;ENSP00000296464:F357L;ENSP00000427305:F316L;ENSP00000425645:F331L	ENSP00000296464:F357L	F	+	3	2	HSPA4L	128945763	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	0.184000	0.16939	0.709000	0.31976	0.655000	0.94253	TTC	-	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.313	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	0	0	0	38	38	116	0.00	0.00	C	NM_014278		128726313	+1	4	12	33	62	tier1	no_errors	ENST00000439123	ensembl	human	known	74_37	missense	10.81	16.22	SNP	1.000	G	4	33
POTEJ	653781	genome.wustl.edu	37	2	131414229	131414229	+	Missense_Mutation	SNP	C	C	A	rs559971878	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:131414229C>A	ENST00000409602.1	+	15	1948	c.1896C>A	c.(1894-1896)agC>agA	p.S632R		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	632					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						AACATCAGAGCCAGCTAAGAA	0.348													ENSG00000222038																																					0																																										SO:0001583	missense	0			-		CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.1896C>A	2.37:g.131414229C>A	ENSP00000387176:p.Ser632Arg			Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.S632R	ENST00000409602.1	37	c.1896	CCDS59432.1	2	.	.	.	.	.	.	.	.	.	.	.	8.781	0.928270	0.18131	.	.	ENSG00000222038	ENST00000409602	T	0.15256	2.44	0.842	0.842	0.18927	.	.	.	.	.	T	0.17109	0.0411	L	0.46157	1.445	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	7	0.87932	D	0	.	3.1618	0.06522	0.0:0.6907:0.0:0.3093	.	.	.	.	R	632	ENSP00000387176:S632R	ENSP00000387176:S632R	S	+	3	2	POTEJ	131130699	0.000000	0.05858	0.027000	0.17364	0.022000	0.10575	-0.134000	0.10436	0.743000	0.32719	0.184000	0.17185	AGC	-	POTEJ	-	NULL		0.348	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	0	0	0	294	294	55	0.00	0.00	C	XM_929706		131414229	+1	43	7	242	42	tier1	no_errors	ENST00000409602	ensembl	human	novel	74_37	missense	15.09	14.29	SNP	0.003	A	43	242
TRPM2	7226	genome.wustl.edu	37	21	45784082	45784082	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr21:45784082G>A	ENST00000397928.1	+	3	785	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TRPM2_ENST00000397932.2_Missense_Mutation_p.D114N|TRPM2_ENST00000300481.9_Missense_Mutation_p.D114N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D114N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	114					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACACAGTGGGACCCAAAGAA	0.557													ENSG00000142185																																					0													161.0	121.0	134.0					21																	45784082		2203	4300	6503	SO:0001583	missense	0			-	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.340G>A	21.37:g.45784082G>A	ENSP00000381023:p.Asp114Asn		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D114N	ENST00000397928.1	37	c.340	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	2.675	-0.276684	0.05679	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.61274	0.12;0.49;0.12;0.12;0.12	4.18	3.27	0.37495	.	0.194505	0.44483	D	0.000455	T	0.43787	0.1263	L	0.35542	1.07	0.46678	D	0.99915	P;P	0.38110	0.618;0.462	B;B	0.39419	0.299;0.138	T	0.21177	-1.0253	10	0.07644	T	0.81	-34.7255	12.9658	0.58483	0.0:0.0:0.8367:0.1633	.	114;114	E9PGK7;O94759	.;TRPM2_HUMAN	N	114	ENSP00000300482:D114N;ENSP00000393982:D114N;ENSP00000381023:D114N;ENSP00000300481:D114N;ENSP00000381026:D114N	ENSP00000300481:D114N	D	+	1	0	TRPM2	44608510	1.000000	0.71417	0.998000	0.56505	0.480000	0.33159	5.819000	0.69243	0.694000	0.31654	0.462000	0.41574	GAC	-	TRPM2	-	NULL		0.557	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	0	0	0	34	34	126	0.00	0.00	G	NM_003307		45784082	+1	11	19	28	37	tier1	no_errors	ENST00000300482	ensembl	human	known	74_37	missense	28.21	33.93	SNP	1.000	A	11	28
FAM185A	222234	genome.wustl.edu	37	7	102392177	102392177	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:102392177G>A	ENST00000413034.2	+	2	490	c.490G>A	c.(490-492)Gtt>Att	p.V164I	FAM185A_ENST00000409231.3_Intron|FAM185A_ENST00000481697.1_3'UTR	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	164										kidney(1)	1						CTGTGTAAAAGTTCAAAGTAT	0.328													ENSG00000222011																																					0													159.0	141.0	146.0					7																	102392177		692	1591	2283	SO:0001583	missense	0			-	BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.490G>A	7.37:g.102392177G>A	ENSP00000395340:p.Val164Ile		A8MUR7|B4DQD3|C9IZ91	Missense_Mutation	SNP	NULL	p.V164I	ENST00000413034.2	37	c.490	CCDS47676.1	7	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716289	0.30413	.	.	ENSG00000222011	ENST00000432852;ENST00000418198;ENST00000413034	T;T	0.53857	0.71;0.6	3.95	3.02	0.34903	.	.	.	.	.	T	0.38904	0.1058	L	0.42686	1.345	0.29214	N	0.874414	P	0.40144	0.704	B	0.38683	0.279	T	0.19712	-1.0297	9	0.17369	T	0.5	-11.2811	5.407	0.16326	0.1139:0.2097:0.6763:0.0	.	164	Q8N0U4	F185A_HUMAN	I	64;164;164	ENSP00000410034:V164I;ENSP00000395340:V164I	ENSP00000395340:V164I	V	+	1	0	FAM185A	102179413	0.965000	0.33210	0.998000	0.56505	0.987000	0.75469	0.467000	0.22035	0.948000	0.37687	0.543000	0.68304	GTT	-	FAM185A	-	NULL		0.328	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1	0	0	0	48	48	105	0.00	0.00	G	NM_001145268		102392177	+1	23	38	29	52	tier1	no_errors	ENST00000413034	ensembl	human	known	74_37	missense	43.40	42.22	SNP	0.998	A	23	29
RAD9A	5883	genome.wustl.edu	37	11	67165480	67165480	+	3'UTR	SNP	C	C	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr11:67165480C>G	ENST00000307980.2	+	0	1719				RAD9A_ENST00000535644.1_3'UTR|PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GTGGAGCTGACAAGTTTTCCT	0.572								Other conserved DNA damage response genes					ENSG00000172613																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.*450C>G	11.37:g.67165480C>G			B2RCZ8|Q6FI29|Q96C41	R	SNP	-	NULL	ENST00000307980.2	37	NULL	CCDS8159.1	11																																																																																			-	RAD9A	-	-		0.572	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD9A	HGNC	protein_coding	OTTHUMT00000395481.2	0	0	0	27	27	111	0.00	0.00	C	NM_004584		67165480	+1	6	28	17	52	tier1	no_errors	ENST00000535644	ensembl	human	known	74_37	rna	26.09	34.57	SNP	0.001	G	6	17
SLC44A4	80736	genome.wustl.edu	37	6	31831505	31831505	+	Missense_Mutation	SNP	T	T	A	rs539276753		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr6:31831505T>A	ENST00000229729.6	-	21	2052	c.2032A>T	c.(2032-2034)Aac>Tac	p.N678Y	SLC44A4_ENST00000544672.1_Missense_Mutation_p.N602Y|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N636Y	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	678					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGGGAGCCGTTGTTCCGCTCC	0.597													ENSG00000204385																																					0													45.0	47.0	46.0					6																	31831505		1509	2709	4218	SO:0001583	missense	0			-	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2032A>T	6.37:g.31831505T>A	ENSP00000229729:p.Asn678Tyr		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.N678Y	ENST00000229729.6	37	c.2032	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	T	31	5.065558	0.93898	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22945	1.93;1.93;1.93	5.43	4.57	0.56435	.	0.052705	0.64402	D	0.000001	T	0.27205	0.0667	L	0.42245	1.32	0.37336	D	0.9102	P	0.42409	0.779	P	0.56163	0.793	T	0.07328	-1.0778	10	0.87932	D	0	-4.2084	13.575	0.61868	0.0:0.9239:0.0:0.0761	.	678	Q53GD3	CTL4_HUMAN	Y	678;636;602	ENSP00000229729:N678Y;ENSP00000364712:N636Y;ENSP00000444109:N602Y	ENSP00000229729:N678Y	N	-	1	0	SLC44A4	31939484	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.525000	0.67110	1.528000	0.49103	-0.146000	0.13790	AAC	-	SLC44A4	-	pfam_Choline_transptr-like		0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	0	0	0	24	24	56	0.00	0.00	T			31831505	-1	6	27	15	22	tier1	no_errors	ENST00000229729	ensembl	human	known	74_37	missense	28.57	55.10	SNP	1.000	A	6	15
INPP5B	3633	genome.wustl.edu	37	1	38343971	38343971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr1:38343971C>T	ENST00000373026.1	-	15	1806	c.1806G>A	c.(1804-1806)tgG>tgA	p.W602*	INPP5B_ENST00000373023.2_Nonsense_Mutation_p.W602*|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Nonsense_Mutation_p.W358*|INPP5B_ENST00000373024.3_Nonsense_Mutation_p.W522*			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	602	5-phosphatase. {ECO:0000250}.			GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). {ECO:0000305}.	in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCGATCACACCAGGCAGGAG	0.557													ENSG00000204084																																					0													79.0	79.0	79.0					1																	38343971		2072	4214	6286	SO:0001587	stop_gained	0			-	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1806G>A	1.37:g.38343971C>T	ENSP00000362117:p.Trp602*		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.W602*	ENST00000373026.1	37	c.1806		1	.	.	.	.	.	.	.	.	.	.	C	38	6.711452	0.97780	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2506	0.93923	0.0:1.0:0.0:0.0	.	.	.	.	X	358;602;602;602;522	.	ENSP00000362114:W602X	W	-	3	0	INPP5B	38116558	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.400000	0.79949	2.571000	0.86741	0.563000	0.77884	TGG	-	INPP5B	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.557	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	0	0	0	61	61	65	0.00	0.00	C	NM_005540		38343971	-1	25	49	41	30	tier1	no_errors	ENST00000373023	ensembl	human	known	74_37	nonsense	37.88	62.03	SNP	1.000	T	25	41
SCAF4	57466	genome.wustl.edu	37	21	33073436	33073436	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr21:33073436G>A	ENST00000286835.7	-	7	1031	c.649C>T	c.(649-651)Cct>Tct	p.P217S	SCAF4_ENST00000399804.1_Missense_Mutation_p.P217S|SCAF4_ENST00000434667.3_Missense_Mutation_p.P202S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	217						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAAGGGCAGGAGACTGTGGT	0.428													ENSG00000156304																																					0													126.0	123.0	124.0					21																	33073436		2203	4300	6503	SO:0001583	missense	0			-	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.649C>T	21.37:g.33073436G>A	ENSP00000286835:p.Pro217Ser		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.P217S	ENST00000286835.7	37	c.649	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827848	0.71143	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.45668	0.93;0.89;0.89	6.07	6.07	0.98685	.	0.058610	0.64402	D	0.000001	T	0.61009	0.2313	M	0.63428	1.95	0.51482	D	0.999926	D;P;D;D	0.59767	0.976;0.954;0.986;0.976	P;P;P;P	0.58660	0.7;0.622;0.843;0.7	T	0.58434	-0.7637	10	0.56958	D	0.05	-9.3187	20.6593	0.99626	0.0:0.0:1.0:0.0	.	202;217;217;217	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	202;217;217	ENSP00000402377:P202S;ENSP00000286835:P217S;ENSP00000382703:P217S	ENSP00000286835:P217S	P	-	1	0	SCAF4	31995307	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.645000	0.91049	2.885000	0.99019	0.655000	0.94253	CCT	-	SCAF4	-	NULL		0.428	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	0	0	0	82	82	87	0.00	0.00	G	XM_047889		33073436	-1	41	32	26	28	tier1	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	61.19	52.46	SNP	1.000	A	41	26
DPP4	1803	genome.wustl.edu	37	2	162851506	162851506	+	Missense_Mutation	SNP	C	C	A	rs142600908		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:162851506C>A	ENST00000360534.3	-	25	2724	c.2164G>T	c.(2164-2166)Gcc>Tcc	p.A722S	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	722					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCGACCAGGGCTTTGGAGATC	0.478													ENSG00000197635																																					0													92.0	85.0	87.0					2																	162851506		2203	4300	6503	SO:0001583	missense	0			-	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2164G>T	2.37:g.162851506C>A	ENSP00000353731:p.Ala722Ser		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A722S	ENST00000360534.3	37	c.2164	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059818	0.76074	.	.	ENSG00000197635	ENST00000360534	T	0.34667	1.35	5.66	5.66	0.87406	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.52343	-0.8588	10	0.44086	T	0.13	-33.9891	19.7417	0.96234	0.0:1.0:0.0:0.0	.	722	P27487	DPP4_HUMAN	S	722	ENSP00000353731:A722S	ENSP00000353731:A722S	A	-	1	0	DPP4	162559752	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.270000	0.78493	2.661000	0.90470	0.655000	0.94253	GCC	-	DPP4	-	pfam_Peptidase_S9		0.478	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	0	0	0	39	39	95	0.00	0.00	C			162851506	-1	6	18	32	78	tier1	no_errors	ENST00000360534	ensembl	human	known	74_37	missense	15.79	18.75	SNP	1.000	A	6	32
CACNA1B	774	genome.wustl.edu	37	9	140852103	140852103	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr9:140852103G>C	ENST00000371372.1	+	10	1442	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E434Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E434Q|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E433Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E433Q	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	433					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACGCAGAGGAGGGAGAGGA	0.572													ENSG00000148408																																					0													89.0	110.0	103.0					9																	140852103		2135	4250	6385	SO:0001583	missense	0			-	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1297G>C	9.37:g.140852103G>C	ENSP00000360423:p.Glu433Gln		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.E434Q	ENST00000371372.1	37	c.1300	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	g	18.90	3.721824	0.68959	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96940	-4.17;-4.18;-4.17;-4.18;-4.18	4.93	4.93	0.64822	.	2.205680	0.04413	N	0.366308	D	0.98492	0.9497	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93521	0.6861	10	0.49607	T	0.09	.	18.2003	0.89836	0.0:0.0:1.0:0.0	.	433	B1AQK6	.	Q	433;433;433;434;434	ENSP00000360423:E433Q;ENSP00000277551:E433Q;ENSP00000360414:E433Q;ENSP00000360408:E434Q;ENSP00000360406:E434Q	ENSP00000277551:E433Q	E	+	1	0	CACNA1B	139971924	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	4.853000	0.62911	2.311000	0.77944	0.299000	0.19835	GAG	-	CAC1B	-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CAC1B	HGNC	protein_coding	OTTHUMT00000055380.1	0	0	0	37	37	45	0.00	0.00	G	NM_000718		140852103	+1	6	4	55	35	tier1	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	9.84	10.26	SNP	1.000	C	6	55
RNF128	79589	genome.wustl.edu	37	X	105970351	105970351	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chrX:105970351G>A	ENST00000255499.2	+	1	458	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAGGAGGGCGTGTACGGCCA	0.682													ENSG00000133135																																					0													18.0	14.0	15.0					X																	105970351		2187	4257	6444	SO:0001583	missense	0			-	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.208G>A	X.37:g.105970351G>A	ENSP00000255499:p.Val70Met		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V70M	ENST00000255499.2	37	c.208	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	g	18.65	3.669834	0.67814	.	.	ENSG00000133135	ENST00000255499	T	0.12569	2.67	4.7	4.7	0.59300	.	0.231325	0.35708	N	0.003024	T	0.18383	0.0441	L	0.39898	1.24	0.29738	N	0.837367	D	0.65815	0.995	P	0.52909	0.713	T	0.02560	-1.1141	10	0.40728	T	0.16	.	10.5584	0.45131	0.0:0.1912:0.8088:0.0	.	70	Q8TEB7	RN128_HUMAN	M	70	ENSP00000255499:V70M	ENSP00000255499:V70M	V	+	1	0	RNF128	105857007	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.716000	0.47219	2.082000	0.62665	0.509000	0.49947	GTG	-	RNF128	-	NULL		0.682	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	0	0	0	60	60	33	0.00	0.00	G	NM_024539		105970351	+1	34	17	15	11	tier1	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	69.39	60.71	SNP	1.000	A	34	15
ICA1	3382	genome.wustl.edu	37	7	8196730	8196730	+	Intron	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr7:8196730C>T	ENST00000402384.3	-	8	1071				ICA1_ENST00000396675.3_Intron|AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000407906.1_Missense_Mutation_p.G274R|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000265577.7_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCTAGTGGCCCCTCTAGCTTC	0.373													ENSG00000003147																																					0													69.0	72.0	71.0					7																	8196730		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.804+15G>A	7.37:g.8196730C>T			A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_AH_dom,pfscan_AH_dom	p.G274R	ENST00000402384.3	37	c.820	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048744	0.19827	.	.	ENSG00000003147	ENST00000407906	.	.	.	3.59	-0.397	0.12423	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20605	-1.0270	7	0.44086	T	0.13	.	2.7673	0.05324	0.3771:0.1227:0.0:0.5001	.	274	E7ENI6	.	R	274	.	ENSP00000386021:G274R	G	-	1	0	ICA1	8163255	0.001000	0.12720	0.000000	0.03702	0.174000	0.22865	-0.112000	0.10791	-0.056000	0.13221	-0.404000	0.06349	GGG	-	ICA1	-	NULL		0.373	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	0	0	0	88	88	114	0.00	0.00	C	NM_004968		8196730	-1	33	64	30	53	tier1	no_errors	ENST00000407906	ensembl	human	putative	74_37	missense	52.38	54.70	SNP	0.000	T	33	30
SKIL	6498	genome.wustl.edu	37	3	170108927	170108927	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:170108927G>C	ENST00000458537.3	+	5	2484	c.1775G>C	c.(1774-1776)aGa>aCa	p.R592T	SKIL_ENST00000413427.2_Missense_Mutation_p.R546T|SKIL_ENST00000259119.4_Missense_Mutation_p.R592T|SKIL_ENST00000426052.2_Missense_Mutation_p.R572T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	592					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CATGCTCAAAGAATGGAAGAA	0.318													ENSG00000136603																																					0													50.0	54.0	53.0					3																	170108927		2203	4300	6503	SO:0001583	missense	0			-	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1775G>C	3.37:g.170108927G>C	ENSP00000415243:p.Arg592Thr		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_D-bd_dom_put	p.R592T	ENST00000458537.3	37	c.1775	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969905	0.74246	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.92397	-3.01;-3.01;-3.03;-3.01	5.34	4.47	0.54385	.	0.172262	0.50627	D	0.000107	D	0.90861	0.7129	L	0.50333	1.59	0.33580	D	0.599798	P;P	0.51351	0.921;0.944	P;P	0.48704	0.462;0.587	D	0.93255	0.6638	10	0.66056	D	0.02	-16.0571	10.3304	0.43818	0.1502:0.0:0.8498:0.0	.	546;592	P12757-3;P12757	.;SKIL_HUMAN	T	592;572;546;592	ENSP00000259119:R592T;ENSP00000406520:R572T;ENSP00000400193:R546T;ENSP00000415243:R592T	ENSP00000259119:R592T	R	+	2	0	SKIL	171591621	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.063000	0.49978	1.283000	0.44513	0.650000	0.86243	AGA	-	SKIL	-	NULL		0.318	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	0	0	0	31	31	78	0.00	0.00	G	NM_005414		170108927	+1	7	8	18	32	tier1	no_errors	ENST00000259119	ensembl	human	known	74_37	missense	28.00	20.00	SNP	1.000	C	7	18
FAM135B	51059	genome.wustl.edu	37	8	139209759	139209759	+	Splice_Site	SNP	C	C	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr8:139209759C>A	ENST00000395297.1	-	8	993	c.823G>T	c.(823-825)Gag>Tag	p.E275*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	275										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCCCTTACCCAGCTCCGTG	0.602										HNSCC(54;0.14)			ENSG00000147724																																					0													43.0	49.0	47.0					8																	139209759		2112	4234	6346	SO:0001630	splice_region_variant	0			-	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.823+1G>T	8.37:g.139209759C>A			B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.E275*	ENST00000395297.1	37	c.823	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	36	5.622617	0.96660	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.5584	12.8257	0.57718	0.0:1.0:0.0:0.0	.	.	.	.	X	275	.	.	E	-	1	0	FAM135B	139278941	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	4.771000	0.62318	2.408000	0.81797	0.557000	0.71058	GAG	-	FAM135B	-	NULL		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	0	0	0	35	35	30	0.00	0.00	C	NM_015912	Nonsense_Mutation	139209759	-1	11	5	23	30	tier1	no_errors	ENST00000395297	ensembl	human	known	74_37	nonsense	32.35	14.29	SNP	1.000	A	11	23
ZNF100	163227	genome.wustl.edu	37	19	21909701	21909701	+	Missense_Mutation	SNP	T	T	G	rs150949595		TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21909701T>G	ENST00000358296.6	-	5	1611	c.1413A>C	c.(1411-1413)caA>caC	p.Q471H	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q407H	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCAGTTAGTTGTGAGGACC	0.403													ENSG00000197020																																					0													63.0	68.0	66.0					19																	21909701		2197	4297	6494	SO:0001583	missense	0			-	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1413A>C	19.37:g.21909701T>G	ENSP00000351042:p.Gln471His		Q7M4M0	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.Q471H	ENST00000358296.6	37	c.1413	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	2.105	-0.405193	0.04832	.	.	ENSG00000197020	ENST00000358296	T	0.03889	3.77	0.867	-0.398	0.12418	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.04724	-0.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.004;0.012	T	0.48559	-0.9025	9	0.21014	T	0.42	.	3.3856	0.07270	0.0:0.2456:0.479:0.2755	.	471;525	Q8IYN0;Q4G131	ZN100_HUMAN;.	H	471	ENSP00000351042:Q471H	ENSP00000351042:Q471H	Q	-	3	2	ZNF100	21701541	0.000000	0.05858	0.886000	0.34754	0.887000	0.51463	-4.640000	0.00204	0.244000	0.21351	0.241000	0.17934	CAA	-	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	0	0	0	47	47	10	0.00	0.00	T	NM_173531		21909701	-1	18	8	85	10	tier1	no_errors	ENST00000358296	ensembl	human	known	74_37	missense	17.48	44.44	SNP	0.001	G	18	85
NISCH	11188	genome.wustl.edu	37	3	52505830	52505831	+	Splice_Site	DEL	GA	GA	-			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	GA	GA	GA	-	GA	GA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:52505830_52505831delGA	ENST00000479054.1	+	6	482_483	c.410_411delGA	c.(409-411)gga>g	p.G137fs	NISCH_ENST00000488380.1_Splice_Site_p.G137fs|NISCH_ENST00000420808.2_Splice_Site_p.G137fs|NISCH_ENST00000345716.4_Splice_Site_p.G137fs			Q9Y2I1	NISCH_HUMAN	nischarin	137	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTCTTGCAGGAGAACAGCTCC	0.614													ENSG00000010322																																					0																																										SO:0001630	splice_region_variant	0				AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.410-1GA>-	3.37:g.52505832_52505833delGA			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Frame_Shift_Del	DEL	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.E138fs	ENST00000479054.1	37	c.410_411	CCDS33767.1	3																																																																																				NISCH	-	NULL		0.614	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	0	0	0	133	133	32	0.00	0.00	GA	NM_007184	Frame_Shift_Del	52505831	+1	38	17	68	12	tier1	no_errors	ENST00000345716	ensembl	human	known	74_37	frame_shift_del	35.85	58.62	DEL	1.000:0.933	-	38	68
CCDC74A	90557	genome.wustl.edu	37	2	132285768	132285768	+	Missense_Mutation	SNP	C	C	G	rs142090969	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:132285768C>G	ENST00000295171.6	+	1	363	c.225C>G	c.(223-225)atC>atG	p.I75M	CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Missense_Mutation_p.I75M|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	75										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAGGAGATCGAGCATCTGA	0.642													ENSG00000163040																																					0													27.0	27.0	27.0					2																	132285768		2203	4296	6499	SO:0001583	missense	0			-		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.225C>G	2.37:g.132285768C>G	ENSP00000295171:p.Ile75Met		Q6P4I5	Missense_Mutation	SNP	NULL	p.I75M	ENST00000295171.6	37	c.225	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	12.20	1.865988	0.32977	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.64260	-0.09;-0.09	2.79	0.538	0.17150	.	0.112323	0.29924	U	0.010857	T	0.69531	0.3121	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.986	D;D;D	0.85130	0.987;0.997;0.91	T	0.69087	-0.5238	10	0.87932	D	0	-4.5324	5.1885	0.15197	0.0:0.6067:0.2368:0.1564	.	75;75;75	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	M	75	ENSP00000295171:I75M;ENSP00000387009:I75M	ENSP00000295171:I75M	I	+	3	3	CCDC74A	132002238	0.997000	0.39634	1.000000	0.80357	0.330000	0.28571	0.188000	0.17018	1.123000	0.41961	0.134000	0.15878	ATC	-	CCDC74A	-	NULL		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	0	0	0	68	68	9	0.00	0.00	C	NM_138770		132285768	+1	14	6	45	5	tier1	no_errors	ENST00000295171	ensembl	human	known	74_37	missense	23.73	54.55	SNP	0.993	G	14	45
NEB	4703	genome.wustl.edu	37	2	152463201	152463201	+	Intron	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr2:152463201G>A	ENST00000172853.10	-	77	11749				NEB_ENST00000427231.2_Silent_p.D4222D|NEB_ENST00000603639.1_Silent_p.D4222D|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Silent_p.D4222D|NEB_ENST00000604864.1_Silent_p.D4222D			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGCTTGGCGTCATTCCAGT	0.383													ENSG00000183091																																					0													336.0	157.0	221.0					2																	152463201		686	1222	1908	SO:0001627	intron_variant	0			-	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11601+3121C>T	2.37:g.152463201G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D4222	ENST00000172853.10	37	c.12666		2																																																																																			-	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		0	0	0	148	148	26	0.00	0.00	G	NM_004543		152463201	-1	116	22	22	1	tier1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	84.06	95.65	SNP	0.886	A	116	22
PML	5371	genome.wustl.edu	37	15	74290386	74290386	+	Silent	SNP	C	C	T			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr15:74290386C>T	ENST00000268058.3	+	2	267	c.171C>T	c.(169-171)tgC>tgT	p.C57C	PML_ENST00000567543.1_Silent_p.C57C|PML_ENST00000563500.1_Silent_p.C57C|PML_ENST00000569965.1_Silent_p.C57C|PML_ENST00000565898.1_Silent_p.C57C|PML_ENST00000395132.2_Silent_p.C57C|PML_ENST00000354026.6_Silent_p.C57C|PML_ENST00000564428.1_Silent_p.C57C|PML_ENST00000569477.1_Silent_p.C57C|PML_ENST00000359928.4_Silent_p.C57C|PML_ENST00000435786.2_Silent_p.C57C|PML_ENST00000268059.6_Silent_p.C57C|PML_ENST00000395135.3_Silent_p.C57C|PML_ENST00000436891.3_Silent_p.C57C	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	57					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTCTGCGCTGCCAGCAATGCC	0.652			T	"""RARA, PAX5"""	"""APL, ALL"""								ENSG00000140464																												Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													37.0	39.0	38.0					15																	74290386		2198	4297	6495	SO:0001819	synonymous_variant	0			-	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.171C>T	15.37:g.74290386C>T			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.C57	ENST00000268058.3	37	c.171	CCDS10255.1	15																																																																																			-	PML	-	smart_Znf_RING,pfscan_Znf_RING		0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	0	0	0	67	67	17	0.00	0.00	C	NM_002675		74290386	+1	40	6	20	7	tier1	no_errors	ENST00000268058	ensembl	human	known	74_37	silent	66.67	46.15	SNP	0.980	T	40	20
SATB1	6304	genome.wustl.edu	37	3	18457620	18457620	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:18457620T>A	ENST00000338745.6	-	4	2128	c.394A>T	c.(394-396)Atc>Ttc	p.I132F	SATB1_ENST00000417717.2_Missense_Mutation_p.I132F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.I132F|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	132	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCAACCTGGATTAGCCCTATT	0.398													ENSG00000182568																																					0													81.0	74.0	76.0					3																	18457620		2203	4300	6503	SO:0001583	missense	0			-		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.394A>T	3.37:g.18457620T>A	ENSP00000341024:p.Ile132Phe		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.I132F	ENST00000338745.6	37	c.394	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027005	0.54683	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.49	5.49	0.81192	.	0.047453	0.85682	D	0.000000	D	0.88276	0.6393	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.89445	0.3726	10	0.87932	D	0	-3.3175	15.8845	0.79232	0.0:0.0:0.0:1.0	.	132;132	Q01826-2;Q01826	.;SATB1_HUMAN	F	132	ENSP00000341024:I132F;ENSP00000399708:I132F;ENSP00000399518:I132F;ENSP00000402982:I132F;ENSP00000406727:I132F;ENSP00000390529:I132F	ENSP00000341024:I132F	I	-	1	0	SATB1	18432624	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	6.099000	0.71466	2.202000	0.70862	0.482000	0.46254	ATC	-	SATB1	-	NULL		0.398	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	0	0	0	36	36	67	0.00	0.00	T	NM_001131010		18457620	-1	9	8	41	79	tier1	no_errors	ENST00000417717	ensembl	human	known	74_37	missense	18.00	9.20	SNP	0.999	A	9	41
CYP11A1	1583	genome.wustl.edu	37	15	74636134	74636134	+	Silent	SNP	A	A	G			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr15:74636134A>G	ENST00000268053.6	-	4	979	c.825T>C	c.(823-825)agT>agC	p.S275S	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Silent_p.S117S|CYP11A1_ENST00000358632.4_Silent_p.S117S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	275					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CCTCACCTTTACTGAAAATCA	0.592													ENSG00000140459																									Esophageal Squamous(87;818 1337 4093 9268 37314)												0													156.0	153.0	154.0					15																	74636134		2197	4296	6493	SO:0001819	synonymous_variant	0			-	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.825T>C	15.37:g.74636134A>G			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S275	ENST00000268053.6	37	c.825	CCDS32291.1	15																																																																																			-	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.592	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	0	0	0	29	29	69	0.00	0.00	A			74636134	-1	4	4	21	55	tier1	no_errors	ENST00000268053	ensembl	human	known	74_37	silent	16.00	6.78	SNP	0.031	G	4	21
RBM6	10180	genome.wustl.edu	37	3	50004794	50004794	+	Intron	DEL	A	A	-			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:50004794delA	ENST00000266022.4	+	3	303				RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6						RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAACTCTGCCAAAAAAAAAAT	0.363													ENSG00000004534																																					0																																										SO:0001627	intron_variant	0				AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.45-109A>-	3.37:g.50004794delA			O60549|O75524|Q86SS3	R	DEL	-	NULL	ENST00000266022.4	37	NULL	CCDS2809.1	3																																																																																				RBM6	-	-		0.363	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	0	0	0	21	21	47	0.00	0.00	A	NM_005777		50004794	+1	3	5	25	50	tier1	no_errors	ENST00000488807	ensembl	human	putative	74_37	rna	10.71	9.09	DEL	1.000	-	3	25
ACADVL	37	genome.wustl.edu	37	17	7123240	7123241	+	5'UTR	INS	-	-	GGGCGTGCAGGACGC	rs77051465|rs550196368|rs3835013|rs6145976|rs139223575|rs421019	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr17:7123240_7123241insGGGCGTGCAGGACGC	ENST00000356839.5	+	0	116_117				DLG4_ENST00000399506.2_5'Flank|DLG4_ENST00000485100.1_5'Flank|ACADVL_ENST00000543245.2_Intron|DLG4_ENST00000302955.6_5'Flank|ACADVL_ENST00000350303.5_5'UTR|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CGCCAGGACGTGGGCGTGCAGG	0.713													ENSG00000072778		2343	0.467851	0.2988	0.4769	5008	,	,		14818	0.4712		0.5736	False		,,,				2504	0.5777																0									,,	1193,2759		290,613,1073					,,	-1.0	0.0		dbSNP_130	8	4084,3646		1352,1380,1133	no	utr-5,utr-5,utr-5	ACADVL,DLG4	NM_001365.3,NM_001033859.1,NM_000018.2	,,	1642,1993,2206	A1A1,A1R,RR		47.1669,30.1872,45.1721	,,	,,		5277,6405				SO:0001623	5_prime_UTR_variant	0				BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.-63->GGGCGTGCAGGACGC	17.37:g.7123240_7123241insGGGCGTGCAGGACGC			B4DEB6|F5H2A9|O76056|Q8WUL0	R	INS	-	NULL	ENST00000356839.5	37	NULL	CCDS11090.1	17																																																																																				ACADVL	-	-		0.713	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	0	0	0	5	5	5	0.00	0.00	-	NM_000018		7123241	+1	0	0	3	3	tier1	no_errors	ENST00000577857	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.000:0.000	GGGCGTGCAGGACGC	0	3
ANKLE1	126549	genome.wustl.edu	37	19	17397486	17397501	+	3'UTR	DEL	TGTGTGTGTGTGTGTT	TGTGTGTGTGTGTGTT	-	rs534658778|rs576892988|rs371454519|rs563327402|rs1465582|rs56209027|rs71180380	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	TGTGTGTGTGTGTGTT	TGTGTGTGTGTGTGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:17397486_17397501delTGTGTGTGTGTGTGTT	ENST00000394458.3	+	0	2249_2264				ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.CVCVCL586fs|ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtgtgtgtgtgtgtttgtgtgtgtg	0.528													ENSG00000160117																																					0																																										SO:0001624	3_prime_UTR_variant	0				AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140TGTGTGTGTGTGTGTT>-	19.37:g.17397486_17397501delTGTGTGTGTGTGTGTT			A8VU82|Q8N8J8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.C590fs	ENST00000394458.3	37	c.1756_1771	CCDS12354.2	19																																																																																				ANKLE1	-	NULL		0.528	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	0	0	0	12	12	12	0.00	0.00	TGTGTGTGTGTGTGTT	NM_152363		17397501	+1	0	0	5	5	tier1	no_errors	ENST00000598347	ensembl	human	putative	74_37	frame_shift_del	0.00	0.00	DEL	0.820:0.697:0.344:0.098:0.082:0.071:0.072:0.077:0.073:0.072:0.083:0.085:0.079:0.064:0.026:0.004	-	0	5
XYLB	9942	genome.wustl.edu	37	3	38411731	38411732	+	Intron	INS	-	-	CACCCA	rs196387|rs71085317|rs150130857	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr3:38411731_38411732insCACCCA	ENST00000207870.3	+	9	855				XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCACTGTAGCGcacacacacac	0.5													ENSG00000093217																																					0																																										SO:0001627	intron_variant	0				AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.765+66->CACCCA	3.37:g.38411731_38411732insCACCCA			B2RAW4|B4DDT2|B9EH64	R	INS	-	NULL	ENST00000207870.3	37	NULL	CCDS2678.1	3																																																																																				XYLB	-	-		0.500	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	0	0	0	11	11	11	0.00	0.00	-	NM_005108		38411732	+1	0	0	7	7	tier1	no_errors	ENST00000487569	ensembl	human	putative	74_37	rna	0.00	0.00	INS	0.000:0.000	CACCCA	0	7
AC136188.1	0	genome.wustl.edu	37	12	74293692	74293701	+	RNA	DEL	ATACACATAC	ATACACATAC	-	rs146159159|rs199815745|rs11179832|rs375254855|rs61932864|rs61932865|rs199501745|rs370436341|rs142009105	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	ATACACATAC	ATACACATAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr12:74293692_74293701delATACACATAC	ENST00000606199.1	+	0	43_52																											atatatatatatacacatacacacacacac	0.281													ENSG00000272231																																					0																																												0																																12.37:g.74293692_74293701delATACACATAC				R	DEL	-	NULL	ENST00000606199.1	37	NULL		12																																																																																				AC136188.1	-	-		0.281	AC136188.1-201	NOVEL	basic	miRNA	ENSG00000272231	Clone_based_ensembl_gene	miRNA		0	0	0	0	0	0	0.00	0.00	ATACACATAC			74293701	+1	0	0	0	0	tier1	no_errors	ENST00000606199	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.002:0.002:0.002:0.002:0.004:0.007:0.009:0.010:0.011:0.011	-	0	0
ZNF100	163227	genome.wustl.edu	37	19	21910048	21910049	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21910048_21910049GG>CA	ENST00000358296.6	-	5	1263_1264	c.1065_1066CC>TG	c.(1063-1068)aaCCag>aaTGag	p.Q356E	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q292E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTGAGGACTGGTTAAAGGCTT	0.411													ENSG00000197020																																					0																																										SO:0001583	missense	0			-	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1065_1066delinsCA	19.37:g.21910048_21910049delinsCA	ENSP00000351042:p.Gln356Glu		Q7M4M0	Missense_Mutation|Silent	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.Q356E|p.N355	ENST00000358296.6	37	c.1066|c.1065	CCDS42538.1	19																																																																																			-	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.411	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	0	0	0	44	44	3	0.00	0.00	G	NM_173531		21910048|21910049	-1	25	0	57|64	4|5	tier1	no_errors	ENST00000358296	ensembl	human	known	74_37	missense|silent	28.41|28.09	0.00	SNP	0.003|0.000	C|A	25	57
ZNF100	163227	genome.wustl.edu	37	19	21910055	21910055	+	Silent	SNP	G	G	A			TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr19:21910055G>A	ENST00000358296.6	-	5	1257	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	ZNF100_ENST00000305570.6_Silent_p.A289A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGTTAAAGGCTTTGCCAC	0.408													ENSG00000197020																																					0													71.0	76.0	74.0					19																	21910055		2195	4292	6487	SO:0001819	synonymous_variant	0			-	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1059C>T	19.37:g.21910055G>A			Q7M4M0	Silent	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.A353	ENST00000358296.6	37	c.1059	CCDS42538.1	19																																																																																			-	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	0	0	0	44	44	3	0.00	0.00	G	NM_173531		21910055	-1	28	0	65	5	tier1	no_errors	ENST00000358296	ensembl	human	known	74_37	silent	30.11	0.00	SNP	0.001	A	28	65
ZNF839	55778	genome.wustl.edu	37	14	102808557	102808558	+	3'UTR	INS	-	-	A	rs71395658|rs57469946|rs552218156|rs16414|rs34220197	byFrequency	TCGA-DX-A23R-01A-11D-A26G-09	TCGA-DX-A23R-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	35c797fd-ca81-4cef-b6c4-7e3776f661b3	daf47fe1-0c16-4711-a274-db2c20165c2c	g.chr14:102808557_102808558insA	ENST00000558850.1	+	0	2827_2828				ZNF839_ENST00000442396.2_3'UTR|ZNF839_ENST00000262236.5_3'UTR|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839								metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCGTCACCGTGGAGCCAGAGCC	0.51													ENSG00000022976																																					0																																										SO:0001624	3_prime_UTR_variant	0				AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.*42->A	14.37:g.102808557_102808558insA			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	R	INS	-	NULL	ENST00000558850.1	37	NULL	CCDS58336.1	14																																																																																				ZNF839	-	-		0.510	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	0	0	0	27	27	30	0.00	0.00	-	NM_018335		102808558	+1	3	2	15	34	tier1	no_errors	ENST00000420933	ensembl	human	known	74_37	rna	16.67	5.56	INS	0.005:0.008	A	3	15
