#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	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_Ens_Gene	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	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RAD50	10111	genome.wustl.edu	37	5	131927684	131927684	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr5:131927684C>T	ENST00000265335.6	+	11	2138	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	RAD50_ENST00000378823.3_Missense_Mutation_p.S445L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	584					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAGTAAATCAAAAGAAATT	0.338								Homologous recombination																																									0								ENSG00000113522						88.0	95.0	93.0					5																	131927684		2203	4299	6502	RAD50	SO:0001583	missense	0			-	HGNC	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1751C>T	5.37:g.131927684C>T	ENSP00000265335:p.Ser584Leu	Somatic	0	34	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	33	2.94	1	47	36.49	27	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.S584L	ENST00000265335.6	37	c.1751	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778434	0.49786	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07021	3.49;3.7;3.23	6.06	5.19	0.71726	.	0.250332	0.41001	D	0.000961	T	0.07279	0.0184	L	0.51422	1.61	0.46011	D	0.998813	B	0.13145	0.007	B	0.04013	0.001	T	0.32134	-0.9918	10	0.23302	T	0.38	-0.916	3.4209	0.07393	0.1272:0.4982:0.2358:0.1389	.	584	Q92878	RAD50_HUMAN	L	445;584;523	ENSP00000368100:S445L;ENSP00000265335:S584L;ENSP00000400049:S523L	ENSP00000265335:S584L	S	+	2	0	RAD50	131955583	0.967000	0.33354	1.000000	0.80357	0.998000	0.95712	2.278000	0.43426	1.584000	0.49913	0.655000	0.94253	TCA	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes		0.338	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	protein_coding	OTTHUMT00000132566.5	C	NM_005732	-		131927684	+1	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	SNP	0.853	T
HEPHL1	341208	genome.wustl.edu	37	11	93796822	93796822	+	Silent	SNP	G	G	A	rs375814141		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr11:93796822G>A	ENST00000315765.9	+	3	572	c.564G>A	c.(562-564)tcG>tcA	p.S188S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	188	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S189S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTACCATTCGCACATCGACG	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000181333	G		0,3958		0,0,1979	110.0	109.0	109.0		564	-10.8	0.7	11		109	1,8325		0,1,4162	no	coding-synonymous	HEPHL1	NM_001098672.1		0,1,6141	AA,AG,GG		0.012,0.0,0.0081		188/1160	93796822	1,12283	1979	4163	6142	HEPHL1	SO:0001819	synonymous_variant	0			-	HGNC	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.564G>A	11.37:g.93796822G>A		Somatic	0	64	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	Q3C1W7	Silent	SNP	35	0.00	0	22	37.14	13	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S188	ENST00000315765.9	37	c.564	CCDS44710.1	11																																																																																			-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	protein_coding	OTTHUMT00000396103.2	G	XM_291947	-		93796822	+1	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	SNP	0.081	A
CPA6	57094	genome.wustl.edu	37	8	68623953	68623957	+	Intron	DEL	CACAC	CACAC	-	rs7841850	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	CACAC	CACAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr8:68623953_68623957delCACAC	ENST00000297770.4	-	1	332				CPA6_ENST00000297769.4_Intron|AC022861.1_ENST00000408733.1_RNA|CPA6_ENST00000518549.1_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6							proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			cacacacacacacacaTCTGAAAGA	0.434																																																	0								ENSG00000221660																																			AC022861.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.116+34291GTGTG>-	8.37:g.68623953_68623957delCACAC		Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8NEX8|Q8TDE8|Q9NRI9	RNA	DEL	21	0.00	0	36	7.69	3	-	NULL	ENST00000297770.4	37	NULL	CCDS6200.1	8																																																																																			-	-		0.434	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221660	protein_coding	OTTHUMT00000379296.2	CACAC	NM_020361			68623957	+1	no_errors	ENST00000408733	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000	-
ORAI1	84876	genome.wustl.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	CCGCCA	CCGCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)						ENSG00000182500																																			ORAI1	SO:0001651	inframe_deletion	0				HGNC	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	9	50.00	9	23	39.47	15	pfam_CRAC_channel	p.PP46in_frame_del	ENST00000330079.7	37	c.127_132	CCDS41851.1	12																																																																																			-	NULL		0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	protein_coding	OTTHUMT00000402151.1	CCGCCA	NM_032790			122064779	+1	no_errors	ENST00000330079	ensembl	human	known	74_37	in_frame_del	DEL	0.716:0.710:0.709:0.897:0.997:0.999	-
SLC38A1	81539	genome.wustl.edu	37	12	46662636	46662658	+	5'UTR	DEL	CCTCGCACTTACATCGACATGCA	CCTCGCACTTACATCGACATGCA	-	rs138950838		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	CCTCGCACTTACATCGACATGCA	CCTCGCACTTACATCGACATGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr12:46662636_46662658delCCTCGCACTTACATCGACATGCA	ENST00000398637.5	-	0	137_159				SLC38A1_ENST00000549049.1_5'UTR|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_5'UTR|SLC38A1_ENST00000552197.1_5'Flank|SLC38A1_ENST00000546893.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGCTCGCCGGCCTCGCACTTACATCGACATGCACCGGCGCTGA	0.632																																																	0								ENSG00000111371																																			SLC38A1	SO:0001623	5_prime_UTR_variant	0				HGNC	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.-558TGCATGTCGATGTAAGTGCGAGG>-	12.37:g.46662636_46662658delCCTCGCACTTACATCGACATGCA		Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Splice_Site	DEL	23	0.00	0	41	12.77	6	-	e1-1	ENST00000398637.5	37	c.1+12_-10	CCDS41774.1	12																																																																																			-	-		0.632	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	protein_coding	OTTHUMT00000404218.2	CCTCGCACTTACATCGACATGCA				46662658	-1	no_errors	ENST00000546893	ensembl	human	known	74_37	splice_site_del	DEL	0.843:0.956:0.966:0.983:0.988:0.994:0.992:0.992:0.988:0.955:0.934:0.888:0.341:0.006:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
WASH6P	653440	genome.wustl.edu	37	X	155255222	155255222	+	RNA	SNP	C	C	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chrX:155255222C>T	ENST00000461007.1	+	0	4138				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCGGGGACTTCTGTCTGCCTG	0.602																																																	0								ENSG00000270726																																			AJ271736.10			0			-	Clone_based_vega_gene	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255222C>T		Somatic	0	59	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	45	22.41	A6NGF1|Q8N305	RNA	SNP	17	0.00	0	19	20.83	5	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			-	-		0.602	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	pseudogene	OTTHUMT00000058840.1	C	NG_008380	-		155255222	+1	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	SNP	0.002	T
CYB5R4	51167	genome.wustl.edu	37	6	84665137	84665137	+	Silent	SNP	C	C	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr6:84665137C>T	ENST00000369681.5	+	15	1607	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	489					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCAAAGTTCTCGTCTGCATTT	0.403																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)												0								ENSG00000065615						82.0	80.0	81.0					6																	84665137		2203	4300	6503	CYB5R4	SO:0001819	synonymous_variant	0			-	HGNC	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1467C>T	6.37:g.84665137C>T		Somatic	0	33	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	40	36.51	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	32	0.00	0	29	35.56	16	pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd	p.L489	ENST00000369681.5	37	c.1467	CCDS5000.2	6																																																																																			-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase		0.403	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	protein_coding	OTTHUMT00000041362.4	C	NM_016230	-		84665137	+1	no_errors	ENST00000369681	ensembl	human	known	74_37	silent	SNP	0.969	T
CAB39	51719	genome.wustl.edu	37	2	231683342	231683351	+	Frame_Shift_Del	DEL	GAGCAGTTTA	GAGCAGTTTA	-			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	GAGCAGTTTA	GAGCAGTTTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:231683342_231683351delGAGCAGTTTA	ENST00000258418.5	+	9	1378_1387	c.949_958delGAGCAGTTTA	c.(949-960)gagcagtttaacfs	p.EQFN317fs	CAB39_ENST00000410084.3_Frame_Shift_Del_p.EQFN317fs|CAB39_ENST00000409788.3_Frame_Shift_Del_p.EQFN317fs	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	317					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GACGGAGGATGAGCAGTTTAACGACGAGAA	0.429																																																	0								ENSG00000135932																																			CAB39	SO:0001589	frameshift_variant	0				HGNC	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.949_958delGAGCAGTTTA	2.37:g.231683342_231683351delGAGCAGTTTA	ENSP00000258418:p.Glu317fs	Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K8L7	Frame_Shift_Del	DEL	30	0.00	0	12	42.86	9	pfam_Mo25,superfamily_ARM-type_fold	p.E317fs	ENST00000258418.5	37	c.949_958	CCDS2478.1	2																																																																																			-	pfam_Mo25,superfamily_ARM-type_fold		0.429	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	GAGCAGTTTA	NM_016289			231683351	+1	no_errors	ENST00000258418	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000	-
CYSTM1	84418	genome.wustl.edu	37	5	139623048	139623048	+	3'UTR	SNP	G	G	A			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr5:139623048G>A	ENST00000261811.4	+	0	1010				PFDN1_ENST00000514611.1_5'Flank|CYSTM1_ENST00000509789.2_3'UTR	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACCTCTGACAGGTGTGCCTGC	0.552																																																	0								ENSG00000120306						29.0	28.0	28.0					5																	139623048		1327	2309	3636	CYSTM1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.*52G>A	5.37:g.139623048G>A		Somatic	0	33	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	Q8TBA5	RNA	SNP	24	0.00	0	42	26.32	15	-	NULL	ENST00000261811.4	37	NULL	CCDS4221.1	5																																																																																			-	-		0.552	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSTM1	protein_coding	OTTHUMT00000251342.2	G	NM_032412	-		139623048	+1	no_errors	ENST00000504227	ensembl	human	known	74_37	rna	SNP	0.000	A
LAMB1	3912	genome.wustl.edu	37	7	107575793	107575805	+	Intron	DEL	TTTTTTTTTTTTT	TTTTTTTTTTTTT	-	rs200599445|rs560552126|rs375320552|rs532164356|rs551910860|rs369537571|rs199891469|rs201843656|rs201373619|rs537372267|rs372331129|rs2701027	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	TTTTTTTTTTTTT	TTTTTTTTTTTTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr7:107575793_107575805delTTTTTTTTTTTTT	ENST00000222399.6	-	27	4419				LAMB1_ENST00000474380.1_Intron|LAMB1_ENST00000393561.1_Intron	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						tttttctttgttttttttttttttttttttttt	0.408																																																	0								ENSG00000091136																																			LAMB1	SO:0001627	intron_variant	0				HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4188+54AAAAAAAAAAAAA>-	7.37:g.107575793_107575805delTTTTTTTTTTTTT		Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q14D91	RNA	DEL	33	13.16	5	49	7.55	4	-	NULL	ENST00000222399.6	37	NULL	CCDS5750.1	7																																																																																			-	-		0.408	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	TTTTTTTTTTTTT	NM_002291			107575805	-1	no_errors	ENST00000491196	ensembl	human	putative	74_37	rna	DEL	0.022:0.021:0.019:0.017:0.014:0.011:0.008:0.004:0.003:0.001:0.001:0.000:0.000	-
MYO16	23026	genome.wustl.edu	37	13	109535494	109535494	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr13:109535494C>A	ENST00000357550.2	+	12	1488	c.1447C>A	c.(1447-1449)Cag>Aag	p.Q483K	MYO16_ENST00000251041.5_Missense_Mutation_p.Q483K|MYO16_ENST00000356711.2_Missense_Mutation_p.Q483K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCCTTTCACCAGCTCTTCCG	0.572																																																	0								ENSG00000041515						152.0	137.0	142.0					13																	109535494		2203	4300	6503	MYO16	SO:0001583	missense	0			-	HGNC		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1447C>A	13.37:g.109535494C>A	ENSP00000350160:p.Gln483Lys	Somatic	0	60	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	50	28.57		Missense_Mutation	SNP	35	0.00	0	28	22.22	8	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q483K	ENST00000357550.2	37	c.1447	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298435	0.05532	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.86865	-2.18;-2.18;-2.18	5.34	3.24	0.37175	Myosin head, motor domain (2);	2.761340	0.02679	U	0.109412	T	0.80363	0.4609	L	0.28115	0.83	0.80722	D	1	B;P	0.35527	0.307;0.507	B;B	0.30716	0.046;0.119	T	0.65010	-0.6272	9	.	.	.	.	9.9096	0.41397	0.4628:0.5371:0.0:0.0	.	483;483	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	483;483;483;483;271	ENSP00000349145:Q483K;ENSP00000350160:Q483K;ENSP00000251041:Q483K	.	Q	+	1	0	MYO16	108333495	1.000000	0.71417	0.932000	0.37286	0.459000	0.32528	3.226000	0.51254	1.333000	0.45449	0.650000	0.86243	CAG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.572	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	C	NM_015011	-		109535494	+1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	SNP	1.000	A
MT-ND1	4535	genome.wustl.edu	37	M	673	673	+	5'Flank	SNP	T	T	C			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chrM:673T>C	ENST00000361390.2	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTAGCCTTTCTATTAGCTCTT	0.443																																																	0								ENSG00000211459																																			MT-RNR1	SO:0001631	upstream_gene_variant	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.673T>C	Exception_encountered	Somatic	0	406	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	412	114	78.33	C0JKH6|Q37523	RNA	SNP	1789	0.00	0	619	80.59	2579	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			-	-		0.443	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	protein_coding		T	YP_003024026	-		673	+1	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	SNP	NULL	C
RLN1	6013	genome.wustl.edu	37	9	5335273	5335273	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr9:5335273C>G	ENST00000223862.1	-	2	662	c.536G>C	c.(535-537)aGg>aCg	p.R179T	RLN1_ENST00000487557.2_5'UTR|RLN1_ENST00000223858.4_3'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	179					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AGCAAGAGACCTTTTGGTACA	0.378																																																	0								ENSG00000107018						81.0	77.0	78.0					9																	5335273		2203	4300	6503	RLN1	SO:0001583	missense	0			-	HGNC		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.536G>C	9.37:g.5335273C>G	ENSP00000223862:p.Arg179Thr	Somatic	0	55	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	25.49	Q99936|Q9UQJ1	Missense_Mutation	SNP	38	0.00	0	33	35.29	18	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.R179T	ENST00000223862.1	37	c.536	CCDS6462.1	9	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720927	0.15372	.	.	ENSG00000107018	ENST00000223862	D	0.84660	-1.88	2.62	-1.08	0.09936	Insulin, conserved site (1);Insulin-like (4);	1.181470	0.06326	N	0.705301	D	0.83613	0.5292	L	0.45228	1.405	0.09310	N	1	P	0.41008	0.735	P	0.48704	0.587	T	0.72743	-0.4201	10	0.62326	D	0.03	.	6.2598	0.20893	0.0:0.6337:0.0:0.3663	.	179	P04808	REL1_HUMAN	T	179	ENSP00000223862:R179T	ENSP00000223862:R179T	R	-	2	0	RLN1	5325273	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.720000	0.04969	-0.183000	0.10585	0.388000	0.25769	AGG	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family		0.378	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	protein_coding	OTTHUMT00000051617.1	C		-		5335273	-1	no_errors	ENST00000223862	ensembl	human	known	74_37	missense	SNP	0.000	G
NDN	4692	genome.wustl.edu	37	15	23931460	23931460	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr15:23931460C>A	ENST00000331837.4	-	1	990	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	302					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGCAGAGCTCTGGCCTCCTC	0.562									Prader-Willi syndrome																																								0								ENSG00000182636						40.0	43.0	42.0					15																	23931460		2201	4297	6498	NDN	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	-	HGNC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.905G>T	15.37:g.23931460C>A	ENSP00000332643:p.Arg302Ile	Somatic	0	39	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B2R6Z5	Missense_Mutation	SNP	32	0.00	0	31	31.11	14	pfam_MAGE,pfscan_MAGE	p.R302I	ENST00000331837.4	37	c.905	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844334	0.71488	.	.	ENSG00000182636	ENST00000331837	T	0.02498	4.27	3.64	3.64	0.41730	.	0.765199	0.11447	N	0.563148	T	0.03178	0.0093	N	0.05124	-0.11	0.46396	D	0.999024	D	0.61697	0.99	P	0.51615	0.675	T	0.64643	-0.6359	10	0.45353	T	0.12	.	11.1184	0.48275	0.0:1.0:0.0:0.0	.	302	Q99608	NECD_HUMAN	I	302	ENSP00000332643:R302I	ENSP00000332643:R302I	R	-	2	0	NDN	21482553	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.606000	0.36826	2.328000	0.79073	0.655000	0.94253	AGA	-	NULL		0.562	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	protein_coding	OTTHUMT00000251226.2	C	NM_002487	-		23931460	-1	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	SNP	1.000	A
F11	2160	genome.wustl.edu	37	4	187195304	187195304	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr4:187195304G>T	ENST00000403665.2	+	5	712	c.360G>T	c.(358-360)atG>atT	p.M120I	F11_ENST00000492972.2_Missense_Mutation_p.M120I|F11_ENST00000264692.4_Intron	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	120	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACCTAGACATGAAGGGCATAA	0.448																																																	0								ENSG00000088926						172.0	146.0	155.0					4																	187195304		2203	4300	6503	F11	SO:0001583	missense	0			-	HGNC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.360G>T	4.37:g.187195304G>T	ENSP00000384957:p.Met120Ile	Somatic	0	21	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	32	0.00	0	55	0.00	0	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.M120I	ENST00000403665.2	37	c.360	CCDS3847.1	4	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496836	0.26861	.	.	ENSG00000088926	ENST00000403665;ENST00000492972	D;D	0.88509	-2.39;-1.54	5.87	5.04	0.67666	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	M	0.65320	2	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.84655	0.0703	10	0.62326	D	0.03	.	14.8897	0.70600	0.0693:0.0:0.9306:0.0	.	120	P03951	FA11_HUMAN	I	120	ENSP00000384957:M120I;ENSP00000424479:M120I	ENSP00000384957:M120I	M	+	3	0	F11	187432298	1.000000	0.71417	0.993000	0.49108	0.069000	0.16628	4.692000	0.61746	1.499000	0.48617	-0.137000	0.14449	ATG	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.448	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	protein_coding	OTTHUMT00000317519.4	G		-		187195304	+1	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	SNP	0.994	T
LINC00937	389634	genome.wustl.edu	37	12	8476956	8476956	+	lincRNA	SNP	G	G	A			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr12:8476956G>A	ENST00000544461.1	-	0	1081				RP11-113C12.4_ENST00000537764.1_RNA|AC092745.1_ENST00000408380.1_RNA|RP11-90D4.3_ENST00000535746.1_lincRNA					long intergenic non-protein coding RNA 937																		tttctcgctcgggcctccaAA	0.537																																																	0								ENSG00000221307																																			AC092745.1			0			-	Clone_based_ensembl_gene	BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8476956G>A		Somatic	0	42	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85		RNA	SNP	28	3.45	1	42	6.67	3	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			-	-		0.537	LINC00937-001	KNOWN	basic	lincRNA	ENSG00000221307	lincRNA	OTTHUMT00000400511.1	G		-		8476956	+1	no_errors	ENST00000408380	ensembl	human	novel	74_37	rna	SNP	0.279	A
TOPBP1	11073	genome.wustl.edu	37	3	133329919	133329919	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr3:133329919G>C	ENST00000260810.5	-	25	4233	c.4102C>G	c.(4102-4104)Cga>Gga	p.R1368G		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1368					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTAGTCTTCGTTGCTGTACA	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0								ENSG00000163781						212.0	204.0	207.0					3																	133329919		1895	4110	6005	TOPBP1	SO:0001583	missense	0			-	HGNC	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4102C>G	3.37:g.133329919G>C	ENSP00000260810:p.Arg1368Gly	Somatic	0	62	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	36	0.00	0	47	24.19	15	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.R1368G	ENST00000260810.5	37	c.4102	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180134	0.57800	.	.	ENSG00000163781	ENST00000260810	T	0.59083	0.29	5.27	3.25	0.37280	BRCT (1);	0.259797	0.41294	D	0.000903	T	0.48205	0.1487	L	0.47716	1.5	0.34333	D	0.687912	P	0.52316	0.952	B	0.41571	0.36	T	0.61700	-0.7009	10	0.34782	T	0.22	.	11.6316	0.51178	0.0:0.0:0.3888:0.6112	.	1368	Q92547	TOPB1_HUMAN	G	1368	ENSP00000260810:R1368G	ENSP00000260810:R1368G	R	-	1	2	TOPBP1	134812609	0.232000	0.23762	0.973000	0.42090	0.930000	0.56654	3.005000	0.49521	1.195000	0.43115	-0.293000	0.09583	CGA	-	superfamily_BRCT_dom		0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	protein_coding	OTTHUMT00000357254.1	G	NM_007027	-		133329919	-1	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	SNP	0.991	C
DMKN	93099	genome.wustl.edu	37	19	35991479	35991479	+	Missense_Mutation	SNP	C	C	G	rs2293696		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr19:35991479C>G	ENST00000339686.3	-	12	1419	c.1243G>C	c.(1243-1245)Gcg>Ccg	p.A415P	DMKN_ENST00000429837.1_Missense_Mutation_p.A374P|DMKN_ENST00000408915.2_Missense_Mutation_p.A29P|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000414866.2_Missense_Mutation_p.A128P|DMKN_ENST00000443640.1_Missense_Mutation_p.A178P|DMKN_ENST00000480502.1_Missense_Mutation_p.A109P|DMKN_ENST00000402589.2_Missense_Mutation_p.A128P|DMKN_ENST00000472252.2_Missense_Mutation_p.A62P|DMKN_ENST00000436012.1_Missense_Mutation_p.A111P|DMKN_ENST00000467637.1_Missense_Mutation_p.A140P|DMKN_ENST00000602781.1_Missense_Mutation_p.A128P|DMKN_ENST00000419602.1_Missense_Mutation_p.A404P|DMKN_ENST00000492341.2_Missense_Mutation_p.A62P	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	415			A -> S (in dbSNP:rs2293696).			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACGCGTCCGCACCCTGAAAG	0.617																																																	0								ENSG00000161249						71.0	48.0	56.0					19																	35991479		2203	4300	6503	DMKN	SO:0001583	missense	0			-	HGNC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1243G>C	19.37:g.35991479C>G	ENSP00000342012:p.Ala415Pro	Somatic	0	44	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	23	0.00	0	30	23.08	9	NULL	p.A415P	ENST00000339686.3	37	c.1243	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.375093|2.375093	0.42105|0.42105	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000434389	T;T;T;T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34|.	3.96|3.96	0.0367|0.0367	0.14193|0.14193	.|.	1.172480|.	0.06548|.	N|.	0.744470|.	T|T	0.22085|0.22085	0.0532|0.0532	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;P;P;P;D;D;D;B;B;B;B|.	0.64830|.	0.001;0.001;0.874;0.514;0.828;0.965;0.994;0.981;0.003;0.0;0.0;0.005|.	B;B;P;B;B;B;P;P;B;B;B;B|.	0.62491|.	0.002;0.001;0.466;0.124;0.282;0.367;0.903;0.788;0.005;0.001;0.001;0.006|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.62326|.	D|.	0.03|.	0.6512|0.6512	1.9497|1.9497	0.03364|0.03364	0.2811:0.4367:0.1699:0.1124|0.2811:0.4367:0.1699:0.1124	.|.	111;62;71;71;91;109;404;374;415;128;178;29|.	B4E3D1;B7ZB10;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.	.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.	P|S	29;128;415;111;128;374;404;178|125	ENSP00000386225:A29P;ENSP00000384509:A128P;ENSP00000342012:A415P;ENSP00000412075:A111P;ENSP00000392222:A128P;ENSP00000405503:A374P;ENSP00000391036:A404P;ENSP00000406864:A178P|.	ENSP00000342012:A415P|.	A|C	-|-	1|2	0|0	DMKN|DMKN	40683319|40683319	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	-0.331000|-0.331000	0.07914|0.07914	-0.019000|-0.019000	0.14055|0.14055	0.436000|0.436000	0.28706|0.28706	GCG|TGC	-	NULL		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	protein_coding	OTTHUMT00000109461.2	C	NM_033317	-		35991479	-1	no_errors	ENST00000339686	ensembl	human	known	74_37	missense	SNP	0.000	G
ADAMTS20	80070	genome.wustl.edu	37	12	43821142	43821142	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr12:43821142C>T	ENST00000389420.3	-	27	4075	c.4076G>A	c.(4075-4077)tGt>tAt	p.C1359Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1359Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C477Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1359	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACTGTGGACAAGGCCCTGG	0.438																																																	0								ENSG00000173157						109.0	88.0	96.0					12																	43821142		2203	4300	6503	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4076G>A	12.37:g.43821142C>T	ENSP00000374071:p.Cys1359Tyr	Somatic	0	65	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	A6NNC9|J3QT00	Missense_Mutation	SNP	31	0.00	0	28	30.00	12	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1359Y	ENST00000389420.3	37	c.4076	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209795	0.79240	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12	4.94	4.94	0.65067	.	0.000000	0.56097	D	0.000026	D	0.99542	0.9836	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.992	D	0.97804	1.0246	10	0.87932	D	0	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	1359;477	P59510;E9PBD5	ATS20_HUMAN;.	Y	1359;489;477;1359;1359	ENSP00000374071:C1359Y;ENSP00000447427:C489Y;ENSP00000378911:C477Y;ENSP00000448341:C1359Y	ENSP00000374068:C1359Y	C	-	2	0	ADAMTS20	42107409	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.409000	0.80053	2.670000	0.90874	0.650000	0.86243	TGT	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43821142	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	1.000	T
CEP131	22994	genome.wustl.edu	37	17	79193762	79193762	+	Missense_Mutation	SNP	C	C	T	rs530864094		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr17:79193762C>T	ENST00000269392.4	-	2	342	c.95G>A	c.(94-96)cGt>cAt	p.R32H	AZI1_ENST00000575907.1_Missense_Mutation_p.R32H|AZI1_ENST00000374782.3_Missense_Mutation_p.R32H|AZI1_ENST00000450824.2_Missense_Mutation_p.R32H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		32					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACTGCCAGGACGCCGGGACAC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17206	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000141577						100.0	89.0	93.0					17																	79193762		2203	4300	6503	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.95G>A	17.37:g.79193762C>T	ENSP00000269392:p.Arg32His	Somatic	0	90	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	67	33.00	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	31	0.00	0	23	37.84	14	superfamily_t-SNARE	p.R32H	ENST00000269392.4	37	c.95		17	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678689	0.68042	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.27402	1.67;1.67;1.67	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000001	T	0.52354	0.1729	M	0.66939	2.045	0.44816	D	0.997822	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.57596	-0.7784	10	0.87932	D	0	-14.9778	13.4173	0.60976	0.0:1.0:0.0:0.0	.	32;32;32;32	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	32	ENSP00000393583:R32H;ENSP00000363914:R32H;ENSP00000269392:R32H	ENSP00000269392:R32H	R	-	2	0	AZI1	76808357	0.997000	0.39634	0.913000	0.36048	0.457000	0.32468	4.719000	0.61937	1.948000	0.56530	0.462000	0.41574	CGT	-	NULL		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	C		-		79193762	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.998	T
CYP4F2	8529	genome.wustl.edu	37	19	16008347	16008347	+	Silent	SNP	G	G	A	rs142765310		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr19:16008347G>A	ENST00000221700.6	-	2	170	c.75C>T	c.(73-75)gtC>gtT	p.V25V	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAGGCCCCGACCAGCAGGA	0.657													.|||	1	0.000199681	0.0	0.0	5008	,	,		15873	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000186115	G		1,4405	2.1+/-5.4	0,1,2202	47.0	50.0	49.0		75	-4.8	0.0	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	CYP4F2	NM_001082.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		25/521	16008347	1,13005	2203	4300	6503	CYP4F2	SO:0001819	synonymous_variant	0			-	HGNC	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.75C>T	19.37:g.16008347G>A		Somatic	1	114	0.87		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	127	17.53		Silent	SNP	15	0.00	0	41	18.00	9	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.V25	ENST00000221700.6	37	c.75	CCDS12336.1	19																																																																																			-	NULL		0.657	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	G	NM_001082	rs142765310		16008347	-1	no_errors	ENST00000221700	ensembl	human	known	74_37	silent	SNP	0.003	A
SLC38A5	92745	genome.wustl.edu	37	X	48321358	48321358	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chrX:48321358A>T	ENST00000376876.3	-	8	1342	c.499T>A	c.(499-501)Ttc>Atc	p.F167I	SLC38A5_ENST00000317669.5_Missense_Mutation_p.F167I|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Missense_Mutation_p.F116I			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	167					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCCTTCAAGAACCAGTCCCTA	0.532																																																	0								ENSG00000017483						113.0	78.0	90.0					X																	48321358		2203	4299	6502	SLC38A5	SO:0001583	missense	0			-	HGNC	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.499T>A	X.37:g.48321358A>T	ENSP00000366073:p.Phe167Ile	Somatic	0	32	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	10	60.00	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	19	0.00	0	4	73.68	14	pfam_AA_transpt_TM	p.F167I	ENST00000376876.3	37	c.499	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	a	22.9	4.349753	0.82132	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711	T;T;T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38;4.38;4.38	5.02	3.81	0.43845	.	0.277931	0.41294	D	0.000910	T	0.04952	0.0133	M	0.70275	2.135	0.51767	D	0.999932	B	0.31290	0.318	B	0.37833	0.259	T	0.16335	-1.0406	10	0.87932	D	0	.	9.2098	0.37311	0.8192:0.1808:0.0:0.0	.	167	Q8WUX1	S38A5_HUMAN	I	167;116;167;167;167;167;167	ENSP00000366073:F167I;ENSP00000366071:F116I;ENSP00000313740:F167I;ENSP00000402988:F167I;ENSP00000407258:F167I;ENSP00000403976:F167I;ENSP00000389644:F167I	ENSP00000313740:F167I	F	-	1	0	SLC38A5	48206302	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	6.632000	0.74281	0.548000	0.28955	0.417000	0.27973	TTC	-	pfam_AA_transpt_TM		0.532	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	A	NM_033518	-		48321358	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	SNP	1.000	T
CAB39	51719	genome.wustl.edu	37	2	231683327	231683340	+	Frame_Shift_Del	DEL	GACAGGACGGAGGA	GACAGGACGGAGGA	-	rs146755738|rs146490647	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	GACAGGACGGAGGA	GACAGGACGGAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:231683327_231683340delGACAGGACGGAGGA	ENST00000258418.5	+	9	1363_1376	c.934_947delGACAGGACGGAGGA	c.(934-948)gacaggacggaggatfs	p.DRTED312fs	CAB39_ENST00000410084.3_Frame_Shift_Del_p.DRTED312fs|CAB39_ENST00000409788.3_Frame_Shift_Del_p.DRTED312fs	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	312					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GTTTCAGAACGACAGGACGGAGGATGAGCAGTTT	0.449																																																	0								ENSG00000135932																																			CAB39	SO:0001589	frameshift_variant	0				HGNC	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.934_947delGACAGGACGGAGGA	2.37:g.231683327_231683340delGACAGGACGGAGGA	ENSP00000258418:p.Asp312fs	Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K8L7	Frame_Shift_Del	DEL	34	0.00	0	18	33.33	9	pfam_Mo25,superfamily_ARM-type_fold	p.D312fs	ENST00000258418.5	37	c.934_947	CCDS2478.1	2																																																																																			-	pfam_Mo25,superfamily_ARM-type_fold		0.449	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	GACAGGACGGAGGA	NM_016289			231683340	+1	no_errors	ENST00000258418	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:1.000:1.000:1.000:1.000:1.000	-
ITGB3BP	23421	genome.wustl.edu	37	1	63906463	63906464	+	3'UTR	DEL	TT	TT	-	rs554213390		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr1:63906463_63906464delTT	ENST00000271002.10	-	0	927_928				ITGB3BP_ENST00000371092.3_3'UTR|ITGB3BP_ENST00000461681.1_5'Flank	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)						apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						ACATGCTTTATTAAGTCTACCC	0.356																																																	0								ENSG00000142856																																			ITGB3BP	SO:0001624	3_prime_UTR_variant	0				HGNC	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.*313AA>-	1.37:g.63906463_63906464delTT		Somatic	0	23	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	RNA	DEL	35	0.00	0	33	31.25	15	-	NULL	ENST00000271002.10	37	NULL	CCDS30736.1	1																																																																																			-	-		0.356	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB3BP	protein_coding	OTTHUMT00000037242.2	TT	NM_014288			63906464	-1	no_errors	ENST00000492655	ensembl	human	putative	74_37	rna	DEL	0.052:0.039	-
GSX2	170825	genome.wustl.edu	37	4	54969779	54969786	+	IGR	DEL	CACACACA	CACACACA	-	rs56366082|rs7691158|rs71200364|rs57728719|rs62297613|rs62297614|rs72250994		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	CACACACA	CACACACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr4:54969779_54969786delCACACACA	ENST00000326902.2	+	0	1812				FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2						forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCGCGCGCGcacacacacacacacaca	0.577																																																	0								ENSG00000221219																																			AC110298.1	SO:0001628	intergenic_variant	0				Clone_based_ensembl_gene		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696		4.37:g.54969787_54969794delCACACACA		Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	16	0.00	0	24	11.11	3	-	NULL	ENST00000326902.2	37	NULL	CCDS3494.1	4																																																																																			-	-		0.577	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221219	protein_coding	OTTHUMT00000250595.1	CACACACA	NM_133267			54969786	-1	no_errors	ENST00000408292	ensembl	human	novel	74_37	rna	DEL	0.001:0.000:0.001:0.000:0.000:0.000:0.002:0.001	-
KIR3DX1	90011	genome.wustl.edu	37	19	55046966	55046966	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr19:55046966G>C	ENST00000335056.3	+	4	549	c.511G>C	c.(511-513)Gct>Cct	p.A171P	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	171						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGGGATGGAGGCTGGGATCCA	0.532																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)												0								ENSG00000104970						72.0	75.0	74.0					19																	55046966		2095	4233	6328	KIR3DX1	SO:0001583	missense	0			-	HGNC	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.511G>C	19.37:g.55046966G>C	ENSP00000335388:p.Ala171Pro	Somatic	0	115	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	64	33.33	B7WNL0|Q8N0S4	Missense_Mutation	SNP	28	0.00	0	39	15.22	7	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.A171P	ENST00000335056.3	37	c.511		19	.	.	.	.	.	.	.	.	.	.	G	7.720	0.697037	0.15106	.	.	ENSG00000104970	ENST00000335056	T	0.13538	2.58	2.41	-4.83	0.03161	.	4.645640	0.01548	U	0.019541	T	0.09468	0.0233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10753	-1.0616	7	0.48119	T	0.1	.	0.8451	0.01159	0.2191:0.1351:0.1528:0.493	.	.	.	.	P	171	ENSP00000335388:A171P	ENSP00000221567:A171P	A	+	1	0	KIR3DX1	59738778	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.421000	0.02455	-2.234000	0.00715	-0.182000	0.12963	GCT	-	smart_Ig_sub		0.532	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	KIR3DX1	protein_coding	OTTHUMT00000140800.2	G	NR_026716	-		55046966	+1	no_errors	ENST00000335056	ensembl	human	known	74_37	missense	SNP	0.000	C
CCNYL2	414194	genome.wustl.edu	37	10	42924561	42924594	+	RNA	DEL	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	-	rs372503885|rs74262004|rs6143878	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr10:42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG	ENST00000483242.3	-	0	804_835					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)			p.?(4)		breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TAAAAAAGCTCACCTTTGCTTGATATGATAATATAGTGCCAAGGTCACACTGTG	0.355														1695	0.338458	0.289	0.2723	5008	,	,		18253	0.2411		0.3191	False		,,,				2504	0.5726																4	Unknown(4)	breast(4)						ENSG00000182632																																			CCNYL2			0				HGNC	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG		Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Splice_Site	DEL	26	13.33	4	27	41.30	19	-	NULL	ENST00000483242.3	37	c.NULL		10																																																																																			-	-		0.355	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	pseudogene	OTTHUMT00000047670.5	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	XM_936368			42924594	-1	no_errors	ENST00000483242	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:1.000:1.000:0.999:1.000:0.996:0.996:0.999	-
OR13A1	79290	genome.wustl.edu	37	10	45799842	45799842	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr10:45799842A>C	ENST00000553795.1	-	4	337	c.29T>G	c.(28-30)aTa>aGa	p.I10R	OR13A1_ENST00000536058.1_Missense_Mutation_p.I10R|OR13A1_ENST00000374401.2_Missense_Mutation_p.I10R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TTCTGGGACTATCAGGTGACT	0.527																																																	0								ENSG00000256574						69.0	76.0	73.0					10																	45799842		2187	4300	6487	OR13A1	SO:0001583	missense	0			-	HGNC	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.29T>G	10.37:g.45799842A>C	ENSP00000451950:p.Ile10Arg	Somatic	0	38	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	31	0.00	0	37	31.48	17	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I10R	ENST00000553795.1	37	c.29	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	a	9.158	1.018047	0.19355	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.11495	2.77;2.77;2.77	3.83	0.12	0.14691	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	9	0.62326	D	0.03	-0.1472	3.7867	0.08703	0.4823:0.1973:0.3203:0.0	.	10	Q8NGR1	O13A1_HUMAN	R	10	ENSP00000451950:I10R;ENSP00000438657:I10R;ENSP00000363522:I10R	ENSP00000311379:I10R	I	-	2	0	OR13A1	45119848	0.031000	0.19500	0.000000	0.03702	0.052000	0.14988	0.892000	0.28322	0.008000	0.14787	0.529000	0.55759	ATA	-	NULL		0.527	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	protein_coding	OTTHUMT00000047779.2	A	NM_001004297	-		45799842	-1	no_errors	ENST00000374401	ensembl	human	known	74_37	missense	SNP	0.000	C
TMPRSS11BNL	401136	genome.wustl.edu	37	4	69083697	69083697	+	5'UTR	SNP	C	C	G			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr4:69083697C>G	ENST00000432593.3	-	0	101				RP11-646E20.6_ENST00000510782.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						TTCTTTTGTCCTGATCAGTGC	0.333																																																	0								ENSG00000250026						135.0	118.0	123.0					4																	69083697		692	1591	2283	RP11-646E20.6	SO:0001623	5_prime_UTR_variant	0			-	Clone_based_vega_gene			4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.-66G>C	4.37:g.69083697C>G		Somatic	0	51	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	57	10.94		RNA	SNP	34	0.00	0	46	11.54	6	-	NULL	ENST00000432593.3	37	NULL	CCDS47066.1	4																																																																																			-	-		0.333	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250026	protein_coding		C	NM_001129907	-		69083697	-1	no_errors	ENST00000504453	ensembl	human	known	74_37	rna	SNP	0.505	G
CADPS	8618	genome.wustl.edu	37	3	62467517	62467517	+	Silent	SNP	C	C	T			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr3:62467517C>T	ENST00000383710.4	-	22	3403	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1018	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGGTAGGTTCACATTGGGTA	0.448																																																	0								ENSG00000163618						237.0	223.0	228.0					3																	62467517		1899	4125	6024	CADPS	SO:0001819	synonymous_variant	0			-	HGNC	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3054G>A	3.37:g.62467517C>T		Somatic	0	92	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	50	29.58	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	39	0.00	0	21	36.36	12	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V1018	ENST00000383710.4	37	c.3054	CCDS46858.1	3																																																																																			-	NULL		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394	-		62467517	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	SNP	1.000	T
CCDC30	728621	genome.wustl.edu	37	1	42948563	42948563	+	Intron	DEL	A	A	-	rs202122677	byFrequency	TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr1:42948563delA	ENST00000428554.2	+	4	746				CCDC30_ENST00000475614.2_3'UTR			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAACATGAGAAAAAAAAAAA	0.363													|||unknown(HR)	839	0.167532	0.1573	0.1556	5008	,	,		20659	0.1746		0.1998	False		,,,				2504	0.1493																0								ENSG00000186409																																			CCDC30	SO:0001627	intron_variant	0				HGNC	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000428554.2:c.-398+76A>-	1.37:g.42948563delA		Somatic	0	22	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	Q14F06|Q5VVM5	RNA	DEL	49	7.55	4	52	0.00	0	-	NULL	ENST00000428554.2	37	NULL	CCDS30690.1	1																																																																																			-	-		0.363	CCDC30-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	protein_coding		A	NM_025030			42948563	+1	no_errors	ENST00000475614	ensembl	human	known	74_37	rna	DEL	0.003	-
KIAA0040	9674	genome.wustl.edu	37	1	175129948	175129955	+	Frame_Shift_Del	DEL	TCTTCTTG	TCTTCTTG	-	rs3208835|rs542219168|rs71563271|rs202239690|rs386636937|rs57794404		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	TCTTCTTG	TCTTCTTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr1:175129948_175129955delTCTTCTTG	ENST00000423313.1	-	4	731_738	c.195_202delCAAGAAGA	c.(193-204)aacaagaagaagfs	p.NKK65fs	KIAA0040_ENST00000444639.1_Frame_Shift_Del_p.NKK65fs|KIAA0040_ENST00000545251.2_Frame_Shift_Del_p.NKK65fs|KIAA0040_ENST00000567124.1_5'Flank	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	ttcttcttcttcttcttgttcttctCTG	0.51																																																	0								ENSG00000235750																																			KIAA0040	SO:0001589	frameshift_variant	0				HGNC	D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.195_202delCAAGAAGA	1.37:g.175129948_175129955delTCTTCTTG	ENSP00000462172:p.Asn65fs	Somatic	NA	NA	NA		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K9H6|Q2NKQ0	Frame_Shift_Del	DEL	28	24.32	9	31	13.89	5	NULL	p.N65fs	ENST00000423313.1	37	c.202_195		1																																																																																			-	NULL		0.510	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	KIAA0040	protein_coding	OTTHUMT00000084420.3	TCTTCTTG	NM_014656			175129955	-1	no_errors	ENST00000423313	ensembl	human	known	74_37	frame_shift_del	DEL	0.979:0.335:0.011:0.006:0.005:0.014:0.019:0.212	-
REEP3	221035	genome.wustl.edu	37	10	65380613	65380613	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr10:65380613C>G	ENST00000373758.4	+	8	935	c.752C>G	c.(751-753)cCa>cGa	p.P251R	REEP3_ENST00000298249.4_Missense_Mutation_p.P236R	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	251					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGAAACGACCACAAGTGTAT	0.318																																																	0								ENSG00000165476						86.0	78.0	81.0					10																	65380613		1831	4078	5909	REEP3	SO:0001583	missense	0			-	HGNC	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.752C>G	10.37:g.65380613C>G	ENSP00000362863:p.Pro251Arg	Somatic	0	32	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	36	0.00	0	35	27.08	13	pfam_TB2_DP1_HVA22	p.P251R	ENST00000373758.4	37	c.752	CCDS44411.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457180	0.84317	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.85339	-1.97;-1.96	5.89	5.89	0.94794	.	0.052819	0.85682	D	0.000000	D	0.89674	0.6783	L	0.55481	1.735	0.58432	D	0.999997	D	0.71674	0.998	P	0.60682	0.878	D	0.90030	0.4134	10	0.72032	D	0.01	.	17.1793	0.86850	0.0:1.0:0.0:0.0	.	251	Q6NUK4	REEP3_HUMAN	R	251;236;253	ENSP00000362863:P251R;ENSP00000298249:P236R	ENSP00000298249:P236R	P	+	2	0	REEP3	65050619	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.198000	0.58419	2.782000	0.95742	0.557000	0.71058	CCA	-	NULL		0.318	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP3	protein_coding		C	NM_001001330	-		65380613	+1	no_errors	ENST00000373758	ensembl	human	known	74_37	missense	SNP	1.000	G
TTPA	7274	genome.wustl.edu	37	8	63978639	63978639	+	Missense_Mutation	SNP	C	C	T	rs138483857		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr8:63978639C>T	ENST00000260116.4	-	3	407	c.376G>A	c.(376-378)Gtt>Att	p.V126I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	126	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GCTGTAAAAACTTTGGGGTCC	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17750	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000137561	C	ILE/VAL	5,4401	6.2+/-15.9	0,5,2198	51.0	48.0	49.0		376	2.6	1.0	8	dbSNP_134	49	0,8600		0,0,4300	no	missense	TTPA	NM_000370.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	126/279	63978639	5,13001	2203	4300	6503	TTPA	SO:0001583	missense	0			-	HGNC	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.376G>A	8.37:g.63978639C>T	ENSP00000260116:p.Val126Ile	Somatic	0	119	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	87	29.27	Q71V64	Missense_Mutation	SNP	38	0.00	0	35	33.96	18	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.V126I	ENST00000260116.4	37	c.376	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883837	0.33255	0.001135	0.0	ENSG00000137561	ENST00000260116	T	0.75367	-0.93	5.54	2.6	0.31112	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.465045	0.23780	N	0.044623	T	0.49795	0.1578	N	0.16201	0.385	0.27447	N	0.953548	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.40728	T	0.16	.	1.7941	0.03058	0.2286:0.4464:0.1122:0.2128	.	126	P49638	TTPA_HUMAN	I	126	ENSP00000260116:V126I	ENSP00000260116:V126I	V	-	1	0	TTPA	64141193	0.792000	0.28813	1.000000	0.80357	0.998000	0.95712	0.557000	0.23454	1.326000	0.45319	0.655000	0.94253	GTT	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.353	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	protein_coding	OTTHUMT00000378460.1	C	NM_000370	rs138483857		63978639	-1	no_errors	ENST00000260116	ensembl	human	known	74_37	missense	SNP	0.989	T
ACADL	33	genome.wustl.edu	37	2	211069371	211069371	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:211069371C>G	ENST00000233710.3	-	7	1031	c.804G>C	c.(802-804)ttG>ttC	p.L268F	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	268					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CACTAGCTGGCAACCGTATAT	0.378																																																	0								ENSG00000115361						127.0	127.0	127.0					2																	211069371		2203	4300	6503	ACADL	SO:0001583	missense	0			-	HGNC	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.804G>C	2.37:g.211069371C>G	ENSP00000233710:p.Leu268Phe	Somatic	0	50	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	B2R8T3|Q8IUN8	Missense_Mutation	SNP	44	0.00	0	46	18.97	11	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L268F	ENST00000233710.3	37	c.804	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498131	0.64186	.	.	ENSG00000115361	ENST00000233710	D	0.99005	-5.32	5.22	3.42	0.39159	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (1);	0.133960	0.46145	D	0.000313	D	0.98614	0.9536	M	0.81341	2.54	0.49130	D	0.999757	D	0.55172	0.97	P	0.54270	0.747	D	0.97942	1.0326	10	0.87932	D	0	.	6.8631	0.24077	0.1403:0.7129:0.0:0.1468	.	268	P28330	ACADL_HUMAN	F	268	ENSP00000233710:L268F	ENSP00000233710:L268F	L	-	3	2	ACADL	210777616	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.962000	0.29280	0.596000	0.29794	0.579000	0.79373	TTG	-	superfamily_AcylCoA_DH/oxidase_NM_dom		0.378	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	protein_coding	OTTHUMT00000256561.2	C	NM_001608	-		211069371	-1	no_errors	ENST00000233710	ensembl	human	known	74_37	missense	SNP	1.000	G
MUC17	140453	genome.wustl.edu	37	7	100682064	100682064	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr7:100682064C>A	ENST00000306151.4	+	3	7431	c.7367C>A	c.(7366-7368)aCt>aAt	p.T2456N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2456	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAACCACTCCGTTAGCA	0.537																																																	0								ENSG00000169876						348.0	341.0	343.0					7																	100682064		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7367C>A	7.37:g.100682064C>A	ENSP00000302716:p.Thr2456Asn	Somatic	0	106	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	65	26.14	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	45	0.00	0	40	25.93	14	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T2456N	ENST00000306151.4	37	c.7367	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	3.047	-0.196243	0.06259	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.25	-2.5	0.06384	.	.	.	.	.	T	0.01661	0.0053	L	0.34521	1.04	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.38112	-0.9676	9	0.35671	T	0.21	.	4.5512	0.12114	0.2288:0.3161:0.4551:0.0	.	2456	Q685J3	MUC17_HUMAN	N	2456	ENSP00000302716:T2456N	ENSP00000302716:T2456N	T	+	2	0	MUC17	100468784	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.084000	0.30828	-1.780000	0.01279	-1.285000	0.01374	ACT	-	NULL		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100682064	+1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.000	A
PDXDC2P	283970	genome.wustl.edu	37	16	70048069	70048069	+	RNA	SNP	A	A	C			TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr16:70048069A>C	ENST00000531894.1	-	0	1310					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CTCATCTTCCACCTGGAAGAA	0.408																																																	0								ENSG00000196696																																			PDXDC2P			0			-	HGNC			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70048069A>C		Somatic	0	50	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8K9Z5	RNA	SNP	41	2.38	1	39	2.50	1	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			-	-		0.408	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	processed_transcript	OTTHUMT00000395258.1	A		-		70048069	-1	no_errors	ENST00000325845	ensembl	human	known	74_37	rna	SNP	1.000	C
PIK3CD	5293	genome.wustl.edu	37	1	9783348	9783348	+	Silent	SNP	G	G	A	rs201426574		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr1:9783348G>A	ENST00000377346.4	+	20	2787	c.2592G>A	c.(2590-2592)ccG>ccA	p.P864P	PIK3CD_ENST00000361110.2_Silent_p.P888P|PIK3CD_ENST00000536656.1_Silent_p.P888P	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	864	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCAAGAACCCGGGGTGGGTTT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17932	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000171608						60.0	69.0	66.0					1																	9783348		2203	4300	6503	PIK3CD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2592G>A	1.37:g.9783348G>A		Somatic	0	60	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	43	34.85	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	33	0.00	0	38	28.30	15	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P888	ENST00000377346.4	37	c.2664	CCDS104.1	1																																																																																			-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.592	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	protein_coding	OTTHUMT00000004235.1	G	NM_005026	rs201426574		9783348	+1	no_errors	ENST00000536656	ensembl	human	known	74_37	silent	SNP	0.206	A
UGT1A4	54657	genome.wustl.edu	37	2	234627744	234627744	+	Missense_Mutation	SNP	C	C	T	rs188914242		TCGA-DX-A3U5-01A-11D-A228-09	TCGA-DX-A3U5-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c963890-6e79-4b16-a4aa-bac04938b4d7	d88d98c1-20d6-4351-a37b-39915181ba3f	g.chr2:234627744C>T	ENST00000373409.3	+	1	321	c.278C>T	c.(277-279)aCg>aTg	p.T93M	UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	93					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GATCGCGTTACGCTGGGCTAC	0.433													T|||	1	0.000199681	0.0	0.0014	5008	,	,		24604	0.0		0.0	False		,,,				2504	0.0				Melanoma(99;1011 1962 13201 26492)												0								ENSG00000244474						94.0	95.0	94.0					2																	234627744		2203	4300	6503	UGT1A4	SO:0001583	missense	0			GMAF=0.0005	HGNC	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.278C>T	2.37:g.234627744C>T	ENSP00000362508:p.Thr93Met	Somatic	0	50	0.00		0.5742776260562531	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	23	48.89	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	29	0.00	0	19	36.67	11	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T93M	ENST00000373409.3	37	c.278	CCDS33405.1	2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	2.733	-0.263921	0.05754	.	.	ENSG00000244474	ENST00000373409	T	0.59502	0.26	3.84	2.66	0.31614	.	.	.	.	.	T	0.29652	0.0740	N	0.01624	-0.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.0;0.005	T	0.21449	-1.0245	9	0.34782	T	0.22	.	10.8412	0.46718	0.0:0.0869:0.0:0.9131	.	93;93	B8K288;P22310	.;UD14_HUMAN	M	93	ENSP00000362508:T93M	ENSP00000362508:T93M	T	+	2	0	UGT1A4	234292483	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.072000	0.14617	0.053000	0.16036	-1.853000	0.00566	ACG	-	pfam_UDP_glucos_trans		0.433	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	protein_coding	OTTHUMT00000130984.1	C	NM_007120	rs188914242		234627744	+1	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	SNP	0.000	T
