#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
PTPN21	11099	genome.wustl.edu	37	14	88963625	88963625	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:88963625G>T	ENST00000556564.1	-	9	1058	c.774C>A	c.(772-774)gaC>gaA	p.D258E	PTPN21_ENST00000328736.3_Missense_Mutation_p.D258E|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	258	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTGGCAATGTCATGCCACC	0.433																																																	0								ENSG00000070778						114.0	103.0	107.0					14																	88963625		2203	4300	6503	PTPN21	SO:0001583	missense	0			-	HGNC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.774C>A	14.37:g.88963625G>T	ENSP00000452414:p.Asp258Glu	Somatic	0	38	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.D258E	ENST00000556564.1	37	c.774	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381557	0.42207	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.81247	-1.47;-1.47	5.22	-3.81	0.04294	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.063071	0.64402	D	0.000006	T	0.67429	0.2892	L	0.31752	0.955	0.32801	D	0.500169	B	0.16802	0.019	B	0.18871	0.023	T	0.56511	-0.7967	10	0.45353	T	0.12	.	14.9713	0.71235	0.255:0.0:0.745:0.0	.	258	Q16825	PTN21_HUMAN	E	258	ENSP00000330276:D258E;ENSP00000452414:D258E	ENSP00000330276:D258E	D	-	3	2	PTPN21	88033378	0.029000	0.19370	0.984000	0.44739	0.893000	0.52053	-0.835000	0.04386	-0.535000	0.06307	-0.355000	0.07637	GAC	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.433	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	protein_coding	OTTHUMT00000410303.1	G		-		88963625	-1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	SNP	0.975	T
ADCY10	55811	genome.wustl.edu	37	1	167863154	167863154	+	Silent	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:167863154C>T	ENST00000367851.4	-	8	949	c.765G>A	c.(763-765)ctG>ctA	p.L255L	ADCY10_ENST00000545172.1_Silent_p.L102L|ADCY10_ENST00000367848.1_Silent_p.L163L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	255					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATCAGGCTTCAGCGTGCATG	0.488																																																	0								ENSG00000143199																																			ADCY10	SO:0001819	synonymous_variant	0			-	HGNC	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.765G>A	1.37:g.167863154C>T		Somatic	0	38	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L255	ENST00000367851.4	37	c.765	CCDS1265.1	1																																																																																			-	pirsf_Adenylate_cylcase_typ10		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	C	NM_018417	rs148864018		167863154	-1	no_errors	ENST00000367851	ensembl	human	known	74_37	silent	SNP	1.000	T
TP53TG5	27296	genome.wustl.edu	37	20	44002615	44002615	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr20:44002615T>C	ENST00000372726.3	-	5	961	c.805A>G	c.(805-807)Aga>Gga	p.R269G	TP53TG5_ENST00000537995.1_Missense_Mutation_p.R253G|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	269					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTCCACCCTCTGCTCGCACCT	0.562											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000124251						147.0	121.0	130.0					20																	44002615		2203	4300	6503	TP53TG5	SO:0001583	missense	0			-	HGNC	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.805A>G	20.37:g.44002615T>C	ENSP00000361811:p.Arg269Gly	Somatic	0	45	0.00	920	0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R269G	ENST00000372726.3	37	c.805	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951341	0.53186	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.10477	2.87;2.87	2.93	0.502	0.16932	.	0.336297	0.21488	N	0.073734	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	1	P	0.42518	0.782	B	0.40375	0.327	T	0.24584	-1.0156	10	0.87932	D	0	0.0168	3.5583	0.07873	0.2276:0.0:0.2358:0.5366	.	269	Q9Y2B4	T53G5_HUMAN	G	269;253	ENSP00000361811:R269G;ENSP00000438374:R253G	ENSP00000361811:R269G	R	-	1	2	TP53TG5	43436029	0.000000	0.05858	0.001000	0.08648	0.190000	0.23558	-1.255000	0.02872	0.068000	0.16574	0.460000	0.39030	AGA	-	NULL		0.562	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	protein_coding	OTTHUMT00000079460.1	T	NM_014477	-		44002615	-1	no_errors	ENST00000372726	ensembl	human	known	74_37	missense	SNP	0.001	C
SLIT3	6586	genome.wustl.edu	37	5	168244435	168244435	+	Silent	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:168244435G>A	ENST00000519560.1	-	8	1082	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLIT3_ENST00000332966.8_Silent_p.C221C|SLIT3_ENST00000404867.3_Silent_p.C221C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	221	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCAGGTGGCAGTCGCAGT	0.622																																					Ovarian(29;311 847 10864 17279 24903)												0								ENSG00000184347						59.0	55.0	56.0					5																	168244435		2203	4300	6503	SLIT3	SO:0001819	synonymous_variant	0			-	HGNC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.663C>T	5.37:g.168244435G>A		Somatic	0	23	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C221	ENST00000519560.1	37	c.663	CCDS4369.1	5																																																																																			-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C		0.622	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	protein_coding	OTTHUMT00000252792.4	G	NM_003062	-		168244435	-1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	SNP	1.000	A
FKBP15	23307	genome.wustl.edu	37	9	115932150	115932151	+	In_Frame_Ins	INS	-	-	TTC	rs370557763|rs113480096|rs62620695	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr9:115932150_115932151insTTC	ENST00000238256.3	-	26	2955_2956	c.2838_2839insGAA	c.(2836-2841)gaaaaa>gaaGAAaaa	p.946_947insE		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						tcttctgctttttcttcttctt	0.525																																																	0								ENSG00000119321																																			FKBP15	SO:0001652	inframe_insertion	0				HGNC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2836_2838dupGAA	9.37:g.115932157_115932159dupTTC	ENSP00000238256:p.Glu946_Glu946dup	Somatic	0	8	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.946in_frame_insE	ENST00000238256.3	37	c.2839_2838	CCDS48007.1	9																																																																																			-	NULL		0.525	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	protein_coding		-	NM_015258			115932151	-1	no_errors	ENST00000238256	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.005	TTC
MSLNL	401827	genome.wustl.edu	37	16	822908	822908	+	Silent	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:822908G>T	ENST00000442466.1	-	10	1223	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MSLNL_ENST00000293892.3_Silent_p.A759A|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	408					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTTCTCCAGGGCCACGTCGG	0.692																																																	0								ENSG00000162006						33.0	38.0	36.0					16																	822908		2014	4168	6182	MSLNL	SO:0001819	synonymous_variant	0			-	HGNC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1224C>A	16.37:g.822908G>T		Somatic	0	39	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mesothelin	p.A759	ENST00000442466.1	37	c.2277		16																																																																																			-	pfam_Mesothelin		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	protein_coding		G	NM_001025190	-		822908	-1	no_errors	ENST00000293892	ensembl	human	known	74_37	silent	SNP	0.952	T
CRACR2B	283229	genome.wustl.edu	37	11	831640	831642	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:831640_831642delCTG	ENST00000525077.1	+	9	1232_1234	c.1131_1133delCTG	c.(1129-1134)acctgc>acc	p.C383del	CD151_ENST00000322008.4_5'Flank|EFCAB4A_ENST00000528542.2_3'UTR|CD151_ENST00000397421.1_5'Flank|EFCAB4A_ENST00000450448.1_3'UTR|AP006621.8_ENST00000532946.1_RNA|CD151_ENST00000397420.3_5'Flank			Q8N4Y2	EFC4A_HUMAN		383	Cys-rich.				cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGCCCACCTGCTGCTGCTGC	0.695																																																	0								ENSG00000177685																																			EFCAB4A	SO:0001651	inframe_deletion	0				HGNC																												ENST00000525077.1:c.1131_1133delCTG	11.37:g.831649_831651delCTG	ENSP00000435299:p.Cys383del	Somatic	0	24	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	D5LPR2|Q8NBW8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfscan_EF_hand_dom	p.C381in_frame_del	ENST00000525077.1	37	c.1131_1133		11																																																																																			-	NULL		0.695	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	protein_coding	OTTHUMT00000383097.1	CTG				831642	+1	no_errors	ENST00000525077	ensembl	human	novel	74_37	in_frame_del	DEL	0.058:0.650:0.957	-
FAM89B	23625	genome.wustl.edu	37	11	65340914	65340914	+	Silent	SNP	G	G	T	rs375388891		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:65340914G>T	ENST00000530349.1	+	2	514	c.372G>T	c.(370-372)ctG>ctT	p.L124L	FAM89B_ENST00000316409.2_Silent_p.L111L|FAM89B_ENST00000449319.2_Missense_Mutation_p.V128L|EHBP1L1_ENST00000309295.4_5'Flank			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	124					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						ACAAACACCTGTGCCAAGACC	0.612																																																	0								ENSG00000176973						91.0	70.0	77.0					11																	65340914		2201	4297	6498	FAM89B	SO:0001819	synonymous_variant	0			-	HGNC	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.372G>T	11.37:g.65340914G>T		Somatic	0	38	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V128L	ENST00000530349.1	37	c.382	CCDS53662.1	11	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647612	0.47258	.	.	ENSG00000176973	ENST00000449319	.	.	.	4.42	3.51	0.40186	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.14172	-1.0482	6	.	.	.	-12.2827	8.4279	0.32739	0.1067:0.0:0.8933:0.0	.	128	E9PB01	.	L	128	.	.	V	+	1	0	FAM89B	65097490	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	0.699000	0.25586	1.084000	0.41184	-0.224000	0.12420	GTG	-	NULL		0.612	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM89B	protein_coding	OTTHUMT00000390095.1	G	NM_152832	-		65340914	+1	no_errors	ENST00000449319	ensembl	human	known	74_37	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11593347	11593347	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:11593347C>G	ENST00000262442.4	+	20	4276	c.4208C>G	c.(4207-4209)aCc>aGc	p.T1403S	DNAH9_ENST00000454412.2_Missense_Mutation_p.T1403S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1403	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACCAGGACACCACCCTAGCG	0.592																																																	0								ENSG00000007174						44.0	38.0	40.0					17																	11593347		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4208C>G	17.37:g.11593347C>G	ENSP00000262442:p.Thr1403Ser	Somatic	0	30	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	54	28.00	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1403S	ENST00000262442.4	37	c.4208	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822435	0.50739	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61274	0.12;0.12	6.08	4.05	0.47172	Dynein heavy chain, domain-2 (1);	0.127114	0.52532	D	0.000080	T	0.75657	0.3879	M	0.89658	3.05	0.80722	D	1	D	0.60575	0.988	D	0.65573	0.936	T	0.75841	-0.3175	10	0.18710	T	0.47	.	11.8999	0.52678	0.0:0.8113:0.1231:0.0656	.	1403	Q9NYC9	DYH9_HUMAN	S	1403	ENSP00000262442:T1403S;ENSP00000414874:T1403S	ENSP00000262442:T1403S	T	+	2	0	DNAH9	11534072	1.000000	0.71417	0.673000	0.29887	0.480000	0.33159	4.016000	0.57159	0.871000	0.35750	0.655000	0.94253	ACC	-	pfam_Dynein_heavy_dom-2		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11593347	+1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	G
CRMP1	1400	genome.wustl.edu	37	4	5827596	5827623	+	Intron	DEL	ACATCTACATACCCACATGCATACACAT	ACATCTACATACCCACATGCATACACAT	-	rs370030770|rs568160301|rs137989122|rs534022137|rs548705218|rs371199393|rs73206229|rs556501542	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	ACATCTACATACCCACATGCATACACAT	ACATCTACATACCCACATGCATACACAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr4:5827596_5827623delACATCTACATACCCACATGCATACACAT	ENST00000397890.2	-	13	1676				CRMP1_ENST00000512574.1_Intron|CRMP1_ENST00000324989.7_Intron|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_Intron	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		gcatacacacacatctacatacccacatgcatacacatacagacgcac	0.487														156	0.0311502	0.0613	0.036	5008	,	,		32701	0.0		0.0408	False		,,,				2504	0.0092																0								ENSG00000072832																																			CRMP1	SO:0001627	intron_variant	0				HGNC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1462-210ATGTGTATGCATGTGGGTATGTAGATGT>-	4.37:g.5827596_5827623delACATCTACATACCCACATGCATACACAT		Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A0EJG6|Q13024|Q4W5F1|Q96TC8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397890.2	37	NULL	CCDS43207.1	4																																																																																			-	-		0.487	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	protein_coding	OTTHUMT00000358871.1	ACATCTACATACCCACATGCATACACAT	NM_001313			5827623	-1	no_errors	ENST00000513911	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
PER2	8864	genome.wustl.edu	37	2	239155060	239155060	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:239155060C>T	ENST00000254657.3	-	23	4003	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1242	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GATCCATTTTCGTCTTCTTTG	0.498																																																	0								ENSG00000132326						117.0	97.0	104.0					2																	239155060		2203	4300	6503	PER2	SO:0001583	missense	0			-	HGNC	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3724G>A	2.37:g.239155060C>T	ENSP00000254657:p.Glu1242Lys	Somatic	0	56	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	18	56.10	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.E1242K	ENST00000254657.3	37	c.3724	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007411	0.19199	.	.	ENSG00000132326	ENST00000254657	T	0.10573	2.86	5.03	-0.0139	0.13982	.	1.242210	0.05386	N	0.538147	T	0.06234	0.0161	N	0.21097	0.63	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.39396	-0.9616	10	0.08837	T	0.75	-2.9459	4.3455	0.11131	0.0:0.4034:0.3605:0.2361	.	1242	O15055	PER2_HUMAN	K	1242	ENSP00000254657:E1242K	ENSP00000254657:E1242K	E	-	1	0	PER2	238819799	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.948000	0.29096	0.103000	0.17682	0.655000	0.94253	GAA	-	NULL		0.498	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	protein_coding	OTTHUMT00000257167.1	C	NM_022817	-		239155060	-1	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	SNP	0.000	T
DCP2	167227	genome.wustl.edu	37	5	112337295	112337295	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:112337295G>T	ENST00000389063.2	+	7	928	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	DCP2_ENST00000515408.1_Missense_Mutation_p.G244C|DCP2_ENST00000543319.1_Missense_Mutation_p.G33C	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	244					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TCGAAGATTTGGCGATTCCTC	0.408																																																	0								ENSG00000172795						195.0	208.0	203.0					5																	112337295		2202	4300	6502	DCP2	SO:0001583	missense	0			-	HGNC	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.730G>T	5.37:g.112337295G>T	ENSP00000373715:p.Gly244Cys	Somatic	0	40	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G244C	ENST00000389063.2	37	c.730	CCDS34210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.12|15.12	2.739392|2.739392	0.49045|0.49045	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.48836|.	0.85;0.8|.	5.79|5.79	4.92|4.92	0.64577|0.64577	.|.	0.195454|.	0.53938|.	D|.	0.000044|.	T|T	0.50718|0.50718	0.1632|0.1632	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.34724|.	0.457;0.465|.	B;B|.	0.35510|.	0.204;0.101|.	T|T	0.45848|0.45848	-0.9233|-0.9233	10|5	0.52906|.	T|.	0.07|.	-17.2893|-17.2893	10.5704|10.5704	0.45196|0.45196	0.0686:0.0:0.7987:0.1327|0.0686:0.0:0.7987:0.1327	.|.	244;244|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	C|L	244;244;33|225	ENSP00000425770:G244C;ENSP00000373715:G244C|.	ENSP00000373715:G244C|.	G|W	+|+	1|2	0|0	DCP2|DCP2	112365194|112365194	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.897000|0.897000	0.52465|0.52465	5.230000|5.230000	0.65321|0.65321	1.447000|1.447000	0.47661|0.47661	0.643000|0.643000	0.83706|0.83706	GGC|TGG	-	NULL		0.408	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	protein_coding	OTTHUMT00000370765.3	G	NM_152624	-		112337295	+1	no_errors	ENST00000389063	ensembl	human	known	74_37	missense	SNP	1.000	T
AKNA	80709	genome.wustl.edu	37	9	117107941	117107942	+	Intron	INS	-	-	TGAATGAATGAA	rs201959374|rs367631073	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr9:117107941_117107942insTGAATGAATGAA	ENST00000307564.4	-	18	3823				AKNA_ENST00000374079.4_Intron|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Intron|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374088.3_Intron	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AAAGTGTTTGCtgaatgaatga	0.436														300	0.0599042	0.2163	0.0187	5008	,	,		21515	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000106948																																			AKNA	SO:0001627	intron_variant	0				HGNC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3661+200->TTCATTCATTCA	9.37:g.117107941_117107942insTGAATGAATGAA		Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000307564.4	37	NULL	CCDS6805.1	9																																																																																			-	-		0.436	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	protein_coding	OTTHUMT00000053767.2	-	NM_030767			117107942	-1	no_errors	ENST00000492875	ensembl	human	known	74_37	rna	INS	0.001:0.007	TGAATGAATGAA
SLC6A10P	386757	genome.wustl.edu	37	16	32888946	32888946	+	RNA	SNP	C	C	T	rs542747986	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:32888946C>T	ENST00000330048.5	-	0	3689					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		TCAGCCGTCTCGGGACTGGAC	0.617													.|||	14	0.00279553	0.0053	0.0	5008	,	,		21042	0.0		0.004	False		,,,				2504	0.0031																0								ENSG00000214617																																			SLC6A10P			0			-	HGNC	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32888946C>T		Somatic	0	67	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	109	10.66		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			-	-		0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	pseudogene	OTTHUMT00000432081.2	C		-		32888946	-1	no_errors	ENST00000330048	ensembl	human	known	74_37	rna	SNP	0.000	T
OR2G6	391211	genome.wustl.edu	37	1	248685143	248685143	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:248685143C>T	ENST00000343414.4	+	1	228	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCAGCAACCTCTCGTGTGT	0.498																																																	0								ENSG00000188558						131.0	110.0	117.0					1																	248685143		2203	4300	6503	OR2G6	SO:0001583	missense	0			-	HGNC		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.196C>T	1.37:g.248685143C>T	ENSP00000341291:p.Leu66Phe	Somatic	0	49	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	12	64.71	B2RP33	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66F	ENST00000343414.4	37	c.196	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	-	14.93	2.683664	0.47991	.	.	ENSG00000188558	ENST00000343414	T	0.00512	6.89	3.68	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35378	U	0.003253	T	0.01627	0.0052	M	0.85099	2.735	0.24727	N	0.993111	D	0.89917	1.0	D	0.87578	0.998	T	0.20174	-1.0283	10	0.87932	D	0	.	8.6556	0.34062	0.0:0.7953:0.0:0.2047	.	66	Q5TZ20	OR2G6_HUMAN	F	66	ENSP00000341291:L66F	ENSP00000341291:L66F	L	+	1	0	OR2G6	246751766	0.003000	0.15002	0.185000	0.23176	0.831000	0.47069	-0.277000	0.08502	0.733000	0.32492	0.400000	0.26472	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.498	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	protein_coding	OTTHUMT00000097358.1	C	XM_372842	-		248685143	+1	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	SNP	0.697	T
KDM3A	55818	genome.wustl.edu	37	2	86705389	86705389	+	Splice_Site	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:86705389G>T	ENST00000409556.1	+	15	2553		c.e15+1		KDM3A_ENST00000312912.5_Splice_Site|KDM3A_ENST00000409064.1_Splice_Site|KDM3A_ENST00000542128.1_Splice_Site			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A						androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTGGAAAAGGTATTTCATGT	0.393																																					NSCLC(96;1150 1523 6936 46253 49736)												0								ENSG00000115548						112.0	112.0	112.0					2																	86705389		2203	4300	6503	KDM3A	SO:0001630	splice_region_variant	0			-	HGNC	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2188+1G>T	2.37:g.86705389G>T		Somatic	0	32	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e13+1	ENST00000409556.1	37	c.2188+1	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824422	0.90955	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6672	0.91495	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM3A	86558900	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.869000	0.99810	2.651000	0.90000	0.655000	0.94253	.	-	-		0.393	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	protein_coding	OTTHUMT00000252522.2	G	NM_018433	-	Intron	86705389	+1	no_errors	ENST00000312912	ensembl	human	known	74_37	splice_site	SNP	1.000	T
POM121	9883	genome.wustl.edu	37	7	72420467	72420467	+	3'UTR	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:72420467G>A	ENST00000395270.1	+	0	5499				NSUN5P2_ENST00000388955.4_RNA	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAGCCTGGCGGGGGTCCAGC	0.617																																																	0								ENSG00000106133						35.0	39.0	38.0					7																	72420467		2203	4300	6503	NSUN5P2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000395270.1:c.*1458G>A	7.37:g.72420467G>A		Somatic	0	39	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000395270.1	37	NULL	CCDS59059.1	7																																																																																			-	-		0.617	POM121-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5P2	protein_coding	OTTHUMT00000252020.1	G		-		72420467	-1	no_errors	ENST00000388955	ensembl	human	known	74_37	rna	SNP	0.264	A
COL17A1	1308	genome.wustl.edu	37	10	105836073	105836073	+	Missense_Mutation	SNP	C	C	T	rs529850690		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:105836073C>T	ENST00000353479.5	-	5	607	c.317G>A	c.(316-318)cGc>cAc	p.R106H	COL17A1_ENST00000369733.3_Missense_Mutation_p.R106H|COL17A1_ENST00000393211.3_Missense_Mutation_p.R106H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATACGCATGGCGGGTAACGTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000065618						201.0	201.0	201.0					10																	105836073		2203	4300	6503	COL17A1	SO:0001583	missense	0			-	HGNC	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.317G>A	10.37:g.105836073C>T	ENSP00000340937:p.Arg106His	Somatic	0	72	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	23	56.60	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen	p.R106H	ENST00000353479.5	37	c.317	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025665	0.54683	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55760	0.5;0.5;0.5	5.61	4.71	0.59529	.	0.000000	0.46758	D	0.000278	T	0.68375	0.2994	L	0.56769	1.78	0.41450	D	0.987977	B;D;B	0.89917	0.333;1.0;0.225	B;D;B	0.85130	0.042;0.997;0.028	T	0.71830	-0.4474	10	0.66056	D	0.02	-10.5982	14.1453	0.65347	0.0:0.9271:0.0:0.0729	.	106;106;106	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	H	106	ENSP00000340937:R106H;ENSP00000358748:R106H;ENSP00000376905:R106H	ENSP00000340937:R106H	R	-	2	0	COL17A1	105826063	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.395000	0.52558	1.376000	0.46267	0.561000	0.74099	CGC	-	NULL		0.512	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494	-		105836073	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF90	7643	genome.wustl.edu	37	19	20190747	20190747	+	Intron	DEL	T	T	-	rs201406331|rs113327735		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr19:20190747delT	ENST00000418063.2	+	1	115				ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GTAtttcctcttttttttttt	0.488																																																	0								ENSG00000213988																																			ZNF90	SO:0001627	intron_variant	0				HGNC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.3+1803T>-	19.37:g.20190747delT		Somatic	0	16	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B9EH87	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000418063.2	37	NULL	CCDS46028.1	19																																																																																			-	-		0.488	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	protein_coding	OTTHUMT00000350101.1	T	NM_007138			20190747	+1	no_errors	ENST00000492328	ensembl	human	known	74_37	rna	DEL	1.000	-
DYRK4	8798	genome.wustl.edu	37	12	4714197	4714197	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:4714197G>T	ENST00000540757.2	+	9	1059	c.899G>T	c.(898-900)gGc>gTc	p.G300V	DYRK4_ENST00000010132.5_Missense_Mutation_p.G300V|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Missense_Mutation_p.G300V|RP11-500M8.7_ENST00000536588.1_Missense_Mutation_p.A30S	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTGTACACGGGCTACCCCCTG	0.652											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000010219						66.0	59.0	62.0					12																	4714197		2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.899G>T	12.37:g.4714197G>T	ENSP00000441755:p.Gly300Val	Somatic	0	41	0.00	620	0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G300V	ENST00000540757.2	37	c.899	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401910	0.83120	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	H	0.97783	4.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85406	0.1134	10	0.87932	D	0	.	19.2186	0.93788	0.0:0.0:1.0:0.0	.	415;14;300;300	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20	.;.;.;DYRK4_HUMAN	V	415;300;300;300	ENSP00000437534:G415V;ENSP00000441755:G300V;ENSP00000010132:G300V;ENSP00000439697:G300V	ENSP00000010132:G300V	G	+	2	0	DYRK4	4584458	1.000000	0.71417	0.976000	0.42696	0.353000	0.29299	9.713000	0.98740	2.642000	0.89623	0.555000	0.69702	GGC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	G		-		4714197	+1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	1.000	T
SEMA6D	80031	genome.wustl.edu	37	15	48057148	48057148	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr15:48057148T>C	ENST00000316364.5	+	13	1761	c.1322T>C	c.(1321-1323)gTt>gCt	p.V441A	SEMA6D_ENST00000389433.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V441A|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V441A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V441A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V441A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V441A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V441A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V441A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	441	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTCATCTTTGTTGGCTCTGAA	0.498																																																	0								ENSG00000137872						117.0	101.0	106.0					15																	48057148		2198	4297	6495	SEMA6D	SO:0001583	missense	0			-	HGNC	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1322T>C	15.37:g.48057148T>C	ENSP00000324857:p.Val441Ala	Somatic	0	43	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.V441A	ENST00000316364.5	37	c.1322	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959679	0.74016	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.110387	0.64402	D	0.000010	T	0.18045	0.0433	L	0.42632	1.34	0.54753	D	0.999984	B;B;B;B;B	0.29270	0.03;0.24;0.03;0.003;0.03	B;B;B;B;B	0.36092	0.047;0.217;0.047;0.016;0.087	T	0.02581	-1.1138	10	0.87932	D	0	.	15.5806	0.76432	0.0:0.0:0.0:1.0	.	441;441;441;441;441	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	A	441	ENSP00000442040:V441A;ENSP00000446152:V441A;ENSP00000324857:V441A;ENSP00000374084:V441A;ENSP00000374083:V441A;ENSP00000346786:V441A;ENSP00000350770:V441A;ENSP00000374079:V441A;ENSP00000348276:V441A;ENSP00000374076:V441A	ENSP00000324857:V441A	V	+	2	0	SEMA6D	45844440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.078000	0.62432	0.533000	0.62120	GTT	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	T	NM_024966	-		48057148	+1	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	SNP	1.000	C
ATP1A2	477	genome.wustl.edu	37	1	160111084	160111084	+	Splice_Site	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:160111084G>T	ENST00000361216.3	+	23	3124	c.3035G>T	c.(3034-3036)gGc>gTc	p.G1012V	ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Splice_Site_p.G1001V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1012					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCTAACAGGCTGGGTGGAG	0.527																																																	0								ENSG00000018625						117.0	106.0	110.0					1																	160111084		2203	4300	6503	ATP1A2	SO:0001630	splice_region_variant	0			-	HGNC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3035-1G>T	1.37:g.160111084G>T		Somatic	0	24	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	37	33.93	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G1012V	ENST00000361216.3	37	c.3035	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162071|4.162071	0.78226|0.78226	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.94723	.|-3.45;-3.5	4.42|4.42	4.42|4.42	0.53409|0.53409	.|ATPase, P-type,  transmembrane domain (1);	.|.	.|.	.|.	.|.	D|D	0.98102|0.98102	0.9374|0.9374	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.98945|0.98945	1.0792|1.0792	5|8	.|.	.|.	.|.	.|.	14.929|14.929	0.70900|0.70900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|912;1012	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	S|V	706|1012;1001;715	.|ENSP00000354490:G1012V;ENSP00000376066:G1001V	.|.	A|G	+|+	1|2	0|0	ATP1A2|ATP1A2	158377708|158377708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.545000|8.545000	0.90657|0.90657	2.455000|2.455000	0.83008|0.83008	0.460000|0.460000	0.39030|0.39030	GCT|GGC	-	tigrfam_ATPase_P-typ_Na/K_IIC		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	G	NM_000702	-	Missense_Mutation	160111084	+1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	SNP	1.000	T
CGREF1	10669	genome.wustl.edu	37	2	27324340	27324340	+	Intron	SNP	G	G	A	rs11893427	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:27324340G>A	ENST00000260595.5	-	6	1028				CGREF1_ENST00000402394.1_Silent_p.P253P|CGREF1_ENST00000312734.4_Silent_p.P253P|CGREF1_ENST00000405600.1_Silent_p.P253P|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Silent_p.P375P|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGGGCCCGGGGGCATCTC	0.706																																																	0								ENSG00000138028						39.0	47.0	44.0					2																	27324340		1674	3351	5025	CGREF1	SO:0001627	intron_variant	0			-	HGNC	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.735+23C>T	2.37:g.27324340G>A		Somatic	0	14	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfscan_EF_hand_dom	p.P253	ENST00000260595.5	37	c.759		2																																																																																			-	NULL		0.706	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	protein_coding		G	NM_006569	rs11893427		27324340	-1	no_errors	ENST00000312734	ensembl	human	known	74_37	silent	SNP	0.000	A
MROH2B	133558	genome.wustl.edu	37	5	41038986	41038986	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:41038986A>T	ENST00000399564.4	-	21	2516	c.2066T>A	c.(2065-2067)cTt>cAt	p.L689H	MROH2B_ENST00000506092.2_Missense_Mutation_p.L244H	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	689																	CCCAGAAAAAAGGCTCTGAAG	0.443																																																	0								ENSG00000171495						61.0	56.0	58.0					5																	41038986		1825	4076	5901	MROH2B	SO:0001583	missense	0			-	HGNC		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2066T>A	5.37:g.41038986A>T	ENSP00000382476:p.Leu689His	Somatic	0	14	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.L689H	ENST00000399564.4	37	c.2066	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085584	0.55861	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.72725	4.79;-0.68	5.93	4.76	0.60689	Armadillo-type fold (1);	0.992316	0.08179	N	0.985701	T	0.57710	0.2072	N	0.08118	0	0.09310	N	0.999999	D	0.60575	0.988	P	0.49528	0.614	T	0.39313	-0.9620	10	0.14252	T	0.57	.	10.327	0.43798	0.835:0.165:0.0:0.0	.	689	Q7Z745	HTRB2_HUMAN	H	244;394;689	ENSP00000441504:L244H;ENSP00000382476:L689H	ENSP00000296803:L394H	L	-	2	0	HEATR7B2	41074743	0.460000	0.25776	0.363000	0.25875	0.727000	0.41649	3.008000	0.49544	1.052000	0.40392	0.533000	0.62120	CTT	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	protein_coding	OTTHUMT00000367558.2	A	NM_173489	-		41038986	-1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	SNP	0.212	T
SEL1L	6400	genome.wustl.edu	37	14	81970568	81970568	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:81970568G>T	ENST00000336735.4	-	5	707	c.591C>A	c.(589-591)agC>agA	p.S197R	SEL1L_ENST00000555824.1_Missense_Mutation_p.S197R	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	197	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTTCTTATTGCTTCCATTAA	0.398																																																	0								ENSG00000071537						271.0	226.0	241.0					14																	81970568		2203	4300	6503	SEL1L	SO:0001583	missense	0			-	HGNC		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.591C>A	14.37:g.81970568G>T	ENSP00000337053:p.Ser197Arg	Somatic	0	55	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.S197R	ENST00000336735.4	37	c.591	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603113	0.66445	.	.	ENSG00000071537	ENST00000336735;ENST00000555824	T;T	0.49720	1.61;0.77	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.040809	0.85682	D	0.000000	T	0.60907	0.2305	M	0.68952	2.095	0.52099	D	0.999946	P;D	0.63880	0.889;0.993	P;P	0.59889	0.498;0.865	T	0.54715	-0.8252	10	0.22706	T	0.39	-12.1084	14.2677	0.66129	0.0706:0.0:0.9294:0.0	.	197;197	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	R	197	ENSP00000337053:S197R;ENSP00000450709:S197R	ENSP00000337053:S197R	S	-	3	2	SEL1L	81040321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.119000	0.50422	2.767000	0.95098	0.655000	0.94253	AGC	-	pfam_Sel1-like,smart_Sel1-like		0.398	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	protein_coding	OTTHUMT00000413325.1	G	NM_005065	-		81970568	-1	no_errors	ENST00000336735	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF521	25925	genome.wustl.edu	37	18	22807082	22807082	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:22807082T>C	ENST00000361524.3	-	4	948	c.800A>G	c.(799-801)gAg>gGg	p.E267G	ZNF521_ENST00000538137.2_Missense_Mutation_p.E267G|ZNF521_ENST00000584787.1_Missense_Mutation_p.E47G|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	267					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGTGGCACTCTGCAATGTG	0.552			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						129.0	112.0	118.0					18																	22807082		2203	4300	6503	ZNF521	SO:0001583	missense	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.800A>G	18.37:g.22807082T>C	ENSP00000354794:p.Glu267Gly	Somatic	0	77	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	24	63.24	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E267G	ENST00000361524.3	37	c.800	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276255	0.23307	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.28069	2.96;1.63;2.97	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	N	0.14661	0.345	0.36834	D	0.887031	P	0.51933	0.949	P	0.58620	0.842	T	0.27536	-1.0071	10	0.21540	T	0.41	-36.9775	12.3984	0.55399	0.0:0.0:0.1401:0.8599	.	267	Q96K83	ZN521_HUMAN	G	267;301;267	ENSP00000354794:E267G;ENSP00000440768:E301G;ENSP00000382352:E267G	ENSP00000354794:E267G	E	-	2	0	ZNF521	21061080	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.881000	0.69706	2.311000	0.77944	0.533000	0.62120	GAG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	T	NM_015461	-		22807082	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	SNP	1.000	C
ABHD6	57406	genome.wustl.edu	37	3	58280112	58280112	+	3'UTR	SNP	A	A	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr3:58280112A>G	ENST00000478253.1	+	0	2135				ABHD6_ENST00000480457.1_3'UTR|ABHD6_ENST00000295962.4_3'UTR			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6						long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		AGGTTCATTCAGCACCCACCA	0.493																																																	0								ENSG00000163686																																			ABHD6	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.*620A>G	3.37:g.58280112A>G		Somatic	0	56	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B2R7Y9|Q6ZMF7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000478253.1	37	NULL	CCDS2887.1	3																																																																																			-	-		0.493	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	protein_coding	OTTHUMT00000353511.1	A	NM_020676	-		58280112	+1	no_errors	ENST00000480457	ensembl	human	putative	74_37	rna	SNP	0.000	G
KRT16P6	353194	genome.wustl.edu	37	17	16722271	16722271	+	RNA	SNP	T	T	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:16722271T>A	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							ATCCTCGCCCTCCAGCAGGCG	0.597																																																	0								ENSG00000226145																																			AC022596.6			0			-	Clone_based_vega_gene																													17.37:g.16722271T>A		Somatic	0	66	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	87	25.64		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000602730.1	37	NULL		17																																																																																			-	-		0.597	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226145	processed_transcript	OTTHUMT00000468034.1	T		-		16722271	-1	no_errors	ENST00000417510	ensembl	human	known	74_37	rna	SNP	1.000	A
PRSS55	203074	genome.wustl.edu	37	8	10383240	10383240	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr8:10383240C>A	ENST00000328655.3	+	1	185	c.145C>A	c.(145-147)Cca>Aca	p.P49T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.P49T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	49						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCCCCCAGCCCAGTCAGTGG	0.657																																																	0								ENSG00000184647						20.0	20.0	20.0					8																	10383240		2203	4300	6503	PRSS55	SO:0001583	missense	0			-	HGNC	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.145C>A	8.37:g.10383240C>A	ENSP00000333003:p.Pro49Thr	Somatic	0	31	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	E5RJX5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P49T	ENST00000328655.3	37	c.145	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	C	7.203	0.593883	0.13875	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.92647	-3.08;-3.08	3.62	1.7	0.24286	.	.	.	.	.	T	0.78585	0.4306	N	0.05199	-0.095	0.09310	N	1	B	0.25235	0.121	B	0.21546	0.035	T	0.65265	-0.6210	9	0.13108	T	0.6	.	6.1498	0.20306	0.2167:0.5733:0.21:0.0	.	49	Q6UWB4	PRS55_HUMAN	T	49	ENSP00000333003:P49T;ENSP00000430459:P49T	ENSP00000333003:P49T	P	+	1	0	PRSS55	10420650	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.096000	0.11059	0.459000	0.27016	0.460000	0.39030	CCA	-	NULL		0.657	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	protein_coding	OTTHUMT00000251493.3	C	NM_198464	-		10383240	+1	no_errors	ENST00000328655	ensembl	human	known	74_37	missense	SNP	0.001	A
TDRG1	732253	genome.wustl.edu	37	6	40347042	40347042	+	RNA	SNP	A	A	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr6:40347042A>T	ENST00000373170.2	+	0	583				TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448559.1_RNA|TDRG1_ENST00000448433.1_RNA	NR_024015.1		Q3Y452	TDRG1_HUMAN	testis development related 1 (non-protein coding)						multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GCGCAGGATCAAGCTACAATG	0.453																																																	0								ENSG00000204091																																			TDRG1			0			-	HGNC	DQ168992		6p21.2	2014-07-18	2011-12-13		ENSG00000204091	ENSG00000204091		"""-"""	43642	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 532"""	615676				19403381, 22123530, 24595048	Standard	NR_024015		Approved	LINC00532	uc003opg.2		OTTHUMG00000014660		6.37:g.40347042A>T		Somatic	0	48	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373170.2	37	NULL		6																																																																																			-	-		0.453	TDRG1-002	KNOWN	basic	antisense	TDRG1	antisense	OTTHUMT00000040484.1	A	NR_024015	-		40347042	+1	no_errors	ENST00000373170	ensembl	human	known	74_37	rna	SNP	0.000	T
HDAC9	9734	genome.wustl.edu	37	7	18630036	18630036	+	Silent	SNP	A	A	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:18630036A>G	ENST00000432645.2	+	3	333	c.333A>G	c.(331-333)caA>caG	p.Q111Q	HDAC9_ENST00000417496.2_Silent_p.Q153Q|HDAC9_ENST00000406072.1_Silent_p.Q142Q|HDAC9_ENST00000441542.2_Silent_p.Q114Q|HDAC9_ENST00000456174.2_Silent_p.Q83Q|HDAC9_ENST00000405010.3_Silent_p.Q111Q|HDAC9_ENST00000401921.1_Silent_p.Q114Q|HDAC9_ENST00000406451.4_Silent_p.Q111Q|HDAC9_ENST00000524023.1_Silent_p.Q80Q|HDAC9_ENST00000428307.2_Silent_p.Q111Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	111					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAGAGGCAAGAACAGGAAG	0.478																																																	0								ENSG00000048052						72.0	76.0	74.0					7																	18630036		2059	4214	6273	HDAC9	SO:0001819	synonymous_variant	0			-	HGNC	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.333A>G	7.37:g.18630036A>G		Somatic	0	50	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	37	38.33	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.Q114	ENST00000432645.2	37	c.342	CCDS47555.1	7																																																																																			-	pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk		0.478	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	protein_coding	OTTHUMT00000376176.1	A		-		18630036	+1	no_errors	ENST00000441542	ensembl	human	known	74_37	silent	SNP	1.000	G
ELN	2006	genome.wustl.edu	37	7	73442538	73442538	+	Silent	SNP	G	G	A	rs569660857		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:73442538G>A	ENST00000252034.7	+	1	420	c.21G>A	c.(19-21)gcG>gcA	p.A7A	ELN_ENST00000429192.1_Silent_p.A7A|ELN_ENST00000320399.6_Silent_p.A7A|ELN_ENST00000414324.1_Silent_p.A7A|ELN_ENST00000445912.1_Silent_p.A7A|ELN_ENST00000320492.7_Silent_p.A7A|ELN_ENST00000380553.4_Silent_p.A7A|ELN_ENST00000458204.1_Silent_p.A7A|ELN_ENST00000357036.5_Silent_p.A7A|ELN_ENST00000380584.4_Silent_p.A7A|ELN_ENST00000380575.4_Silent_p.A7A|ELN_ENST00000380562.4_Silent_p.A7A|ELN_ENST00000358929.4_Silent_p.A7A|ELN_ENST00000380576.5_Silent_p.A7A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	7					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGAcggcggcggccccgcggc	0.682			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0								ENSG00000049540						18.0	21.0	20.0					7																	73442538		2191	4288	6479	ELN	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.21G>A	7.37:g.73442538G>A		Somatic	0	80	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	28	62.16	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	NA	NA	NA	NA	NA	NA	prints_Tropoelastin	p.A7	ENST00000252034.7	37	c.21	CCDS5562.2	7																																																																																			-	NULL		0.682	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	-		73442538	+1	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	SNP	0.040	A
EIF1AX	1964	genome.wustl.edu	37	X	20156712	20156712	+	Silent	SNP	A	A	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:20156712A>G	ENST00000379607.5	-	2	248	c.45T>C	c.(43-45)ggT>ggC	p.G15G	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTCATTCTTACCCCTGCGTC	0.308																																																	0								ENSG00000173674						165.0	153.0	157.0					X																	20156712		2203	4300	6503	EIF1AX	SO:0001819	synonymous_variant	0			-	HGNC	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.45T>C	X.37:g.20156712A>G		Somatic	0	100	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	81	31.36	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A	p.G15	ENST00000379607.5	37	c.45	CCDS14196.1	X																																																																																			-	superfamily_NA-bd_OB-fold,tigrfam_TIF_eIF-1A		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AX	protein_coding	OTTHUMT00000058913.1	A		-		20156712	-1	no_errors	ENST00000379607	ensembl	human	known	74_37	silent	SNP	1.000	G
AC136188.1	0	genome.wustl.edu	37	12	74293700	74293707	+	RNA	DEL	ACACACAC	ACACACAC	-	rs146159159|rs61932867|rs375254855|rs61932865|rs61932866|rs199815745|rs142009105|rs71437008	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	ACACACAC	ACACACAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:74293700_74293707delACACACAC	ENST00000606199.1	+	0	51_58																											atatacacatacacacacacacacacac	0.298														1587	0.316893	0.4592	0.2622	5008	,	,		14557	0.1409		0.3579	False		,,,				2504	0.3027																0								ENSG00000272231																																			AC136188.1			0				Clone_based_ensembl_gene																													12.37:g.74293708_74293715delACACACAC		Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606199.1	37	NULL		12																																																																																			-	-		0.298	AC136188.1-201	NOVEL	basic	miRNA	ENSG00000272231	miRNA		ACACACAC				74293707	+1	no_errors	ENST00000606199	ensembl	human	novel	74_37	rna	DEL	0.011:0.011:0.017:0.021:0.026:0.029:0.033:0.036	-
MX1	4599	genome.wustl.edu	37	21	42807952	42807952	+	Silent	SNP	C	C	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr21:42807952C>G	ENST00000398600.2	+	8	1319	c.294C>G	c.(292-294)ggC>ggG	p.G98G	MX1_ENST00000398598.3_Silent_p.G98G|MX1_ENST00000288383.6_Intron|MX1_ENST00000455164.2_Silent_p.G98G	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	98	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTCCCAGAGGCAGCGGTAAGA	0.532																																																	0								ENSG00000157601						62.0	67.0	66.0					21																	42807952		2203	4300	6503	MX1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.294C>G	21.37:g.42807952C>G		Somatic	0	29	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.G98	ENST00000398600.2	37	c.294	CCDS13673.1	21																																																																																			-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF		0.532	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	protein_coding	OTTHUMT00000195161.2	C		-		42807952	+1	no_errors	ENST00000398598	ensembl	human	known	74_37	silent	SNP	1.000	G
SUGCT	79783	genome.wustl.edu	37	7	40356428	40356428	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:40356428G>T	ENST00000335693.4	+	9	834	c.811G>T	c.(811-813)Gct>Tct	p.A271S	C7orf10_ENST00000309930.5_Missense_Mutation_p.A271S|C7orf10_ENST00000401647.2_Missense_Mutation_p.A223S	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		271					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGGGGTACAGCTCATGGCAG	0.373																																																	0								ENSG00000175600						78.0	77.0	77.0					7																	40356428		1876	4128	6004	C7orf10	SO:0001583	missense	0			-	HGNC																												ENST00000335693.4:c.811G>T	7.37:g.40356428G>T	ENSP00000338475:p.Ala271Ser	Somatic	0	42	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.A271S	ENST00000335693.4	37	c.811	CCDS55105.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.312801|3.312801	0.60414|0.60414	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.54866|.	0.55;0.55;0.55|.	5.59|5.59	5.59|5.59	0.84812|0.84812	CoA-transferase family III domain (2);|.	0.047194|.	0.85682|.	D|.	0.000000|.	T|T	0.69214|0.69214	0.3086|0.3086	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	P;P;B|.	0.36438|.	0.553;0.553;0.365|.	B;B;B|.	0.42593|.	0.256;0.392;0.3|.	T|T	0.64841|0.64841	-0.6312|-0.6312	10|5	0.56958|.	D|.	0.05|.	-14.2319|-14.2319	17.1108|17.1108	0.86674|0.86674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	223;271;234|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	S|H	271;223;271|265	ENSP00000312054:A271S;ENSP00000385222:A223S;ENSP00000338475:A271S|.	ENSP00000312054:A271S|.	A|Q	+|+	1|3	0|2	C7orf10|C7orf10	40322953|40322953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	6.584000|6.584000	0.74057|0.74057	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	GCT|CAG	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	protein_coding	OTTHUMT00000338388.1	G		-		40356428	+1	no_errors	ENST00000309930	ensembl	human	known	74_37	missense	SNP	1.000	T
TMEM191C	645426	genome.wustl.edu	37	22	21822373	21822385	+	lincRNA	DEL	AGGATCCGGGGGT	AGGATCCGGGGGT	-	rs3016118		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	AGGATCCGGGGGT	AGGATCCGGGGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr22:21822373_21822385delAGGATCCGGGGGT	ENST00000449424.1	+	0	415_427							A6NGB0	T191C_HUMAN	transmembrane protein 191C							integral component of membrane (GO:0016021)											ggaagggggcaggatccgggggtggggtgaggt	0.704																																																	0								ENSG00000206140																																			TMEM191C			0				HGNC			22q11.21	2013-04-03			ENSG00000206140	ENSG00000206140			33601	other	unknown							Standard	NM_001207052		Approved		uc021wmg.1	A6NGB0	OTTHUMG00000150780		22.37:g.21822373_21822385delAGGATCCGGGGGT		Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000449424.1	37	NULL		22																																																																																			-	-		0.704	TMEM191C-004	KNOWN	basic|exp_conf	lincRNA	TMEM191C	lincRNA	OTTHUMT00000320053.1	AGGATCCGGGGGT	NM_001207052			21822385	+1	no_errors	ENST00000449424	ensembl	human	known	74_37	rna	DEL	0.003:0.005:0.001:0.001:0.002:0.003:0.000:0.000:0.000:0.057:0.077:0.000:0.000	-
INTS1	26173	genome.wustl.edu	37	7	1535871	1535871	+	Silent	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:1535871G>T	ENST00000404767.3	-	12	1717	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	INTS1_ENST00000389470.4_Silent_p.V672V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	544					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACACGGCCAGGACGTCGGTGA	0.642																																																	0								ENSG00000164880						78.0	89.0	85.0					7																	1535871		2103	4217	6320	INTS1	SO:0001819	synonymous_variant	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1632C>A	7.37:g.1535871G>T		Somatic	0	52	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3677,superfamily_ARM-type_fold	p.V672	ENST00000404767.3	37	c.2016	CCDS47526.1	7																																																																																			-	NULL		0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	G		-		1535871	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	SNP	0.985	T
SLC17A3	10786	genome.wustl.edu	37	6	25862063	25862063	+	Intron	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr6:25862063G>A	ENST00000360657.3	-	4	589				SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000397060.4_Silent_p.V166V			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAATGAGCAAGACTATTCCAA	0.423																																																	0								ENSG00000124564						57.0	58.0	58.0					6																	25862063		2183	4286	6469	SLC17A3	SO:0001627	intron_variant	0			-	HGNC	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.304-124C>T	6.37:g.25862063G>A		Somatic	0	41	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V166	ENST00000360657.3	37	c.498	CCDS4566.2	6																																																																																			-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.423	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	protein_coding	OTTHUMT00000040070.2	G		-		25862063	-1	no_errors	ENST00000397060	ensembl	human	known	74_37	silent	SNP	0.000	A
PFKFB2	5208	genome.wustl.edu	37	1	207243688	207243688	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:207243688G>T	ENST00000367080.3	+	12	1280	c.1156G>T	c.(1156-1158)Gtc>Ttc	p.V386F	PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V200F|PFKFB2_ENST00000367079.2_Missense_Mutation_p.V386F|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V353F|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V288F	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	386	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCAGGGCAATGTCCTCGTCAT	0.617																																																	0								ENSG00000123836						101.0	73.0	83.0					1																	207243688		2203	4300	6503	PFKFB2	SO:0001583	missense	0			-	HGNC		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1156G>T	1.37:g.207243688G>T	ENSP00000356047:p.Val386Phe	Somatic	0	28	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.V386F	ENST00000367080.3	37	c.1156	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366522	0.82463	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.65	4.73	0.59995	Histidine phosphatase superfamily, clade-1 (2);	0.112076	0.64402	D	0.000010	D	0.88640	0.6491	M	0.91972	3.26	0.58432	D	0.999998	D;D;D;D	0.76494	0.988;0.997;0.992;0.999	D;D;D;D	0.65874	0.911;0.925;0.939;0.925	D	0.89979	0.4099	10	0.87932	D	0	.	10.3505	0.43931	0.1512:0.0:0.8488:0.0	.	200;288;386;386	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	F	288;386;386;353;200	ENSP00000408717:V288F;ENSP00000356047:V386F;ENSP00000356046:V386F;ENSP00000439420:V353F;ENSP00000440878:V200F	ENSP00000356046:V386F	V	+	1	0	PFKFB2	205310311	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	5.727000	0.68523	1.352000	0.45808	0.655000	0.94253	GTC	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.617	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	protein_coding	OTTHUMT00000087838.1	G		-		207243688	+1	no_errors	ENST00000367080	ensembl	human	known	74_37	missense	SNP	0.996	T
OSBPL1A	114876	genome.wustl.edu	37	18	21892054	21892054	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:21892054A>G	ENST00000319481.3	-	13	1192	c.986T>C	c.(985-987)aTa>aCa	p.I329T	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	329	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGTTCTTCTATTGCTTCCAG	0.393																																																	0								ENSG00000141447						129.0	121.0	124.0					18																	21892054		2203	4300	6503	OSBPL1A	SO:0001583	missense	0			-	HGNC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.986T>C	18.37:g.21892054A>G	ENSP00000320291:p.Ile329Thr	Somatic	0	39	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	5	86.84	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.I329T	ENST00000319481.3	37	c.986	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052634	0.75960	.	.	ENSG00000141447	ENST00000319481	T	0.49432	0.78	5.21	5.21	0.72293	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.316385	0.33792	N	0.004558	T	0.44414	0.1292	L	0.46157	1.445	0.80722	D	1	P;B	0.43094	0.799;0.421	B;B	0.40228	0.323;0.156	T	0.48468	-0.9033	10	0.56958	D	0.05	-16.1887	15.3518	0.74396	1.0:0.0:0.0:0.0	.	329;329	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	329	ENSP00000320291:I329T	ENSP00000320291:I329T	I	-	2	0	OSBPL1A	20146052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.292000	0.89930	2.080000	0.62538	0.533000	0.62120	ATA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	protein_coding	OTTHUMT00000254902.1	A	NM_080597	-		21892054	-1	no_errors	ENST00000319481	ensembl	human	known	74_37	missense	SNP	1.000	G
DNHD1	144132	genome.wustl.edu	37	11	6578614	6578616	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:6578614_6578616delGAG	ENST00000527990.2	+	23	8089_8091	c.8089_8091delGAG	c.(8089-8091)gagdel	p.E2703del	DNHD1_ENST00000254579.6_In_Frame_Del_p.E2703del			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2703	Glu-rich.				microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGGAGAGTgaggaggaggagg	0.576																																																	0								ENSG00000179532																																			DNHD1	SO:0001651	inframe_deletion	0				HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8089_8091delGAG	11.37:g.6578623_6578625delGAG	ENSP00000436180:p.Glu2703del	Somatic	0	24	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.E2700in_frame_del	ENST00000527990.2	37	c.8089_8091	CCDS44532.1	11																																																																																			-	NULL		0.576	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	GAG	NM_144666			6578616	+1	no_errors	ENST00000254579	ensembl	human	known	74_37	in_frame_del	DEL	0.006:0.004:0.000	-
TTC17	55761	genome.wustl.edu	37	11	43464991	43464991	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:43464991G>C	ENST00000039989.4	+	17	2382	c.2368G>C	c.(2368-2370)Ggc>Cgc	p.G790R	TTC17_ENST00000299240.6_Missense_Mutation_p.G847R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	790					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCCTTTGGAAGGCTTTGGGGG	0.483																																																	0								ENSG00000052841						78.0	76.0	77.0					11																	43464991		2203	4300	6503	TTC17	SO:0001583	missense	0			-	HGNC	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2368G>C	11.37:g.43464991G>C	ENSP00000039989:p.Gly790Arg	Somatic	0	75	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	18	75.68	G3XAB3|Q8NEC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G790R	ENST00000039989.4	37	c.2368	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565747	0.65651	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.36520	1.25;1.33	5.7	4.78	0.61160	.	0.047074	0.85682	D	0.000000	T	0.24314	0.0589	N	0.08118	0	0.38202	D	0.940225	P;P;P	0.46706	0.814;0.877;0.883	B;B;P	0.44518	0.265;0.296;0.452	T	0.14448	-1.0472	10	0.32370	T	0.25	-12.1899	14.8693	0.70444	0.0691:0.0:0.9309:0.0	.	847;790;847	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	847;790	ENSP00000299240:G847R;ENSP00000039989:G790R	ENSP00000039989:G790R	G	+	1	0	TTC17	43421567	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	5.956000	0.70315	1.417000	0.47077	0.557000	0.71058	GGC	-	NULL		0.483	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	protein_coding	OTTHUMT00000389577.2	G	NM_018259	-		43464991	+1	no_errors	ENST00000039989	ensembl	human	known	74_37	missense	SNP	1.000	C
SNX8	29886	genome.wustl.edu	37	7	2289570	2289570	+	IGR	SNP	G	G	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:2289570G>C	ENST00000222990.3	-	0	4727				NUDT1_ENST00000397048.1_Missense_Mutation_p.E100D|NUDT1_ENST00000356714.1_Missense_Mutation_p.E77D|NUDT1_ENST00000339737.2_Missense_Mutation_p.E77D|NUDT1_ENST00000343985.4_Missense_Mutation_p.E100D|NUDT1_ENST00000397049.1_Missense_Mutation_p.E100D|NUDT1_ENST00000397046.1_Missense_Mutation_p.E77D|NUDT1_ENST00000487426.1_3'UTR	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCGTGGGCGAGCCTGAGCTCA	0.657																																																	0								ENSG00000106268						257.0	193.0	215.0					7																	2289570		2203	4300	6503	NUDT1	SO:0001628	intergenic_variant	0			-	HGNC	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2289570G>C		Somatic	0	21	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	7	76.67	A4D207|Q96I67	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase	p.E100D	ENST00000222990.3	37	c.300	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631353	0.03584	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29	5.28	-1.61	0.08399	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.251000	0.05044	N	0.476851	T	0.03348	0.0097	N	0.05330	-0.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43605	-0.9381	10	0.06625	T	0.88	-9.7342	10.8752	0.46906	0.0:0.4045:0.4702:0.1253	.	118	P36639	8ODP_HUMAN	D	77;100;77;100;100;77	ENSP00000349148:E77D;ENSP00000380242:E100D;ENSP00000380239:E77D;ENSP00000380241:E100D;ENSP00000339503:E100D;ENSP00000343439:E77D	ENSP00000343439:E77D	E	+	3	2	NUDT1	2256096	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.272000	0.08560	-0.361000	0.08125	0.462000	0.41574	GAG	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase		0.657	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT1	protein_coding	OTTHUMT00000322949.2	G		-		2289570	+1	no_errors	ENST00000343985	ensembl	human	known	74_37	missense	SNP	0.011	C
DCAF8L2	347442	genome.wustl.edu	37	X	27765205	27765205	+	Missense_Mutation	SNP	G	G	A	rs199614366		TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:27765205G>A	ENST00000451261.2	+	5	592	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	65								p.D65N(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTCCCCAACGATGCCAGCAC	0.522																																																	1	Substitution - Missense(1)	pancreas(1)						ENSG00000189186						75.0	59.0	64.0					X																	27765205		692	1591	2283	DCAF8L2	SO:0001583	missense	0			-	HGNC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.193G>A	X.37:g.27765205G>A	ENSP00000462745:p.Asp65Asn	Somatic	0	62	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08	B2RXH9|J3KT06	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D65N	ENST00000451261.2	37	c.193	CCDS59162.1	X																																																																																			-	NULL		0.522	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	protein_coding	OTTHUMT00000056143.4	G	XM_293354	-		27765205	+1	no_errors	ENST00000451261	ensembl	human	known	74_37	missense	SNP	0.000	A
FBN2	2201	genome.wustl.edu	37	5	127610308	127610308	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr5:127610308A>T	ENST00000508053.1	-	66	8636	c.7662T>A	c.(7660-7662)ttT>ttA	p.F2554L	FBN2_ENST00000262464.4_Missense_Mutation_p.F2554L			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTTACAGGTAAACCCCCCCA	0.418																																																	0								ENSG00000138829						100.0	96.0	97.0					5																	127610308		2203	4300	6503	FBN2	SO:0001583	missense	0			-	HGNC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7662T>A	5.37:g.127610308A>T	ENSP00000424571:p.Phe2554Leu	Somatic	0	43	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	45	38.36	B4DU01|Q59ES6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.F2554L	ENST00000508053.1	37	c.7662	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695635	0.88830	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95853	-3.83;-3.83	4.92	-1.37	0.09056	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000010	D	0.97198	0.9084	M	0.85859	2.78	0.43457	D	0.995654	D	0.57257	0.979	D	0.74023	0.982	D	0.96501	0.9371	10	0.72032	D	0.01	.	13.5375	0.61653	0.2001:0.0:0.7999:0.0	.	2554	P35556	FBN2_HUMAN	L	2554	ENSP00000262464:F2554L;ENSP00000424571:F2554L	ENSP00000262464:F2554L	F	-	3	2	FBN2	127638207	1.000000	0.71417	0.944000	0.38274	0.973000	0.67179	2.137000	0.42130	-0.104000	0.12154	0.477000	0.44152	TTT	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	A	NM_001999	-		127610308	-1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	SNP	1.000	T
CLVS2	134829	genome.wustl.edu	37	6	123376999	123376999	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr6:123376999C>G	ENST00000275162.5	+	5	2059	c.724C>G	c.(724-726)Cct>Gct	p.P242A	CLVS2_ENST00000368438.1_Missense_Mutation_p.P96A	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTAATTCATCCTGAGATCCT	0.443																																																	0								ENSG00000146352						185.0	158.0	167.0					6																	123376999		2203	4300	6503	CLVS2	SO:0001583	missense	0			-	HGNC	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.724C>G	6.37:g.123376999C>G	ENSP00000275162:p.Pro242Ala	Somatic	0	27	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.P242A	ENST00000275162.5	37	c.724	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190137	0.58017	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.75260	-0.92;-0.92	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.45137	1.4	0.80722	D	1	B	0.29232	0.238	B	0.30316	0.114	T	0.59742	-0.7397	10	0.37606	T	0.19	-12.8029	20.2983	0.98569	0.0:1.0:0.0:0.0	.	242	Q5SYC1	CLVS2_HUMAN	A	242;96	ENSP00000275162:P242A;ENSP00000357423:P96A	ENSP00000275162:P242A	P	+	1	0	CLVS2	123418698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	protein_coding	OTTHUMT00000042042.2	C	NM_001010852	-		123376999	+1	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	SNP	1.000	G
TTC26	79989	genome.wustl.edu	37	7	138865918	138865918	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr7:138865918C>A	ENST00000464848.1	+	16	1473	c.1393C>A	c.(1393-1395)Cag>Aag	p.Q465K	TTC26_ENST00000343187.4_Missense_Mutation_p.Q434K|TTC26_ENST00000478836.2_Missense_Mutation_p.Q358K|TTC26_ENST00000495038.1_Missense_Mutation_p.Q334K|TTC26_ENST00000430935.1_Missense_Mutation_p.Q465K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	465					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CAGTCTCTTACAGCTCATTGC	0.393																																																	0								ENSG00000105948						78.0	79.0	78.0					7																	138865918		2203	4300	6503	TTC26	SO:0001583	missense	0			-	HGNC	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1393C>A	7.37:g.138865918C>A	ENSP00000419279:p.Gln465Lys	Somatic	0	38	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat,pfscan_TPR-contain_dom	p.Q465K	ENST00000464848.1	37	c.1393	CCDS5852.1	7	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929349	0.73327	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.44482	0.92;1.2;1.2;1.2;1.2	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.128751	0.56097	D	0.000040	T	0.47820	0.1466	M	0.79475	2.455	0.80722	D	1	P;B;P;B	0.43094	0.79;0.187;0.799;0.118	B;B;B;B	0.38683	0.279;0.152;0.152;0.073	T	0.46952	-0.9154	10	0.27785	T	0.31	.	19.2296	0.93833	0.0:1.0:0.0:0.0	.	334;434;465;465	B7Z2T3;F8W724;C9J2N7;A0AVF1	.;.;.;TTC26_HUMAN	K	465;334;358;465;434	ENSP00000410655:Q465K;ENSP00000418788:Q334K;ENSP00000419178:Q358K;ENSP00000419279:Q465K;ENSP00000339135:Q434K	ENSP00000339135:Q434K	Q	+	1	0	TTC26	138516458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	2.835000	0.97688	0.650000	0.86243	CAG	-	smart_TPR_repeat		0.393	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC26	protein_coding	OTTHUMT00000348919.2	C	NM_024926	-		138865918	+1	no_errors	ENST00000464848	ensembl	human	known	74_37	missense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124409668	124409668	+	Silent	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:124409668G>A	ENST00000409039.3	+	67	11509	c.11484G>A	c.(11482-11484)caG>caA	p.Q3828Q	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3828					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCCTTTCCAGAAGTTGCTTA	0.473																																																	0								ENSG00000197653						215.0	210.0	211.0					12																	124409668		1968	4155	6123	DNAH10	SO:0001819	synonymous_variant	0			-	HGNC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11484G>A	12.37:g.124409668G>A		Somatic	0	107	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	81	35.71	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.Q3828	ENST00000409039.3	37	c.11484	CCDS9255.2	12																																																																																			-	pfam_Dynein_heavy_dom		0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	G		-		124409668	+1	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	SNP	1.000	A
SMG5	23381	genome.wustl.edu	37	1	156230411	156230411	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:156230411G>A	ENST00000361813.5	-	15	2258	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	705					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGGACACAAGGCCAGGCCTGG	0.537																																																	0								ENSG00000198952						60.0	49.0	53.0					1																	156230411		2203	4300	6503	SMG5	SO:0001583	missense	0			-	HGNC	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2114C>T	1.37:g.156230411G>A	ENSP00000355261:p.Ala705Val	Somatic	0	27	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EST1,smart_PIN_dom	p.A705V	ENST00000361813.5	37	c.2114	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504207	0.44558	.	.	ENSG00000198952	ENST00000361813	T	0.29142	1.58	5.36	1.11	0.20524	.	0.303260	0.37809	N	0.001938	T	0.05181	0.0138	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.14699	-1.0463	10	0.41790	T	0.15	-5.0791	5.732	0.18045	0.2713:0.1609:0.5678:0.0	.	705	Q9UPR3	SMG5_HUMAN	V	705	ENSP00000355261:A705V	ENSP00000355261:A705V	A	-	2	0	SMG5	154497035	0.913000	0.31002	0.962000	0.40283	0.968000	0.65278	1.026000	0.30103	0.389000	0.25086	0.561000	0.74099	GCC	-	NULL		0.537	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	protein_coding	OTTHUMT00000046308.1	G	NM_015327	-		156230411	-1	no_errors	ENST00000361813	ensembl	human	known	74_37	missense	SNP	0.963	A
NPLOC4	55666	genome.wustl.edu	37	17	79580153	79580154	+	Intron	INS	-	-	AAA	rs56233095|rs142821788|rs151110419|rs530668692	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:79580153_79580154insAAA	ENST00000331134.6	-	4	602				NPLOC4_ENST00000374747.5_Intron|NPLOC4_ENST00000574344.1_Intron|NPLOC4_ENST00000539314.1_Intron	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATAAAAAGCTAAAAAAAAAAA	0.322														1812	0.361821	0.3926	0.3588	5008	,	,		19111	0.4663		0.1948	False		,,,				2504	0.3865																0								ENSG00000182446																																			NPLOC4	SO:0001627	intron_variant	0				HGNC	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.386+189->TTT	17.37:g.79580160_79580162dupAAA		Somatic	0	9	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000331134.6	37	c.NULL	CCDS45812.1	17																																																																																			-	-		0.322	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	protein_coding	OTTHUMT00000440140.1	-				79580154	-1	no_errors	ENST00000571562	ensembl	human	known	74_37	splice_site_ins	INS	0.011:0.010	AAA
KLLN	100144748	genome.wustl.edu	37	10	89621940	89621940	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:89621940C>T	ENST00000445946.3	-	1	1254	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	PTEN_ENST00000371953.3_5'Flank	NM_001126049.1	NP_001119521.1	B2CW77	KILIN_HUMAN	killin, p53-regulated DNA replication inhibitor	102					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)	1						GTTGGGGTTCCGCTGCCTGCA	0.627																																																	0								ENSG00000227268						23.0	31.0	28.0					10																	89621940		692	1591	2283	KLLN	SO:0001583	missense	0			-	HGNC		CCDS44454.1	10q23	2011-02-18	2011-02-18		ENSG00000227268	ENSG00000227268			37212	protein-coding gene	gene with protein product		612105				18385383	Standard	NM_001126049		Approved	killin	uc009xti.3	B2CW77		ENST00000445946.3:c.305G>A	10.37:g.89621940C>T	ENSP00000392204:p.Arg102Gln	Somatic	0	51	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R102Q	ENST00000445946.3	37	c.305	CCDS44454.1	10	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068938	0.20147	.	.	ENSG00000227268	ENST00000445946	.	.	.	4.77	-9.53	0.00575	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.11348	-1.0591	7	.	.	.	.	1.8619	0.03190	0.1645:0.2535:0.1574:0.4246	.	102	B2CW77	KILIN_HUMAN	Q	102	.	.	R	-	2	0	KLLN	89611920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.136000	0.01305	-3.832000	0.00101	-1.814000	0.00607	CGG	-	NULL		0.627	KLLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLLN	protein_coding	OTTHUMT00000473179.1	C	NM_001126049	-		89621940	-1	no_errors	ENST00000445946	ensembl	human	known	74_37	missense	SNP	0.000	T
FOXD3	27022	genome.wustl.edu	37	1	63788984	63788995	+	In_Frame_Del	DEL	GGCCGGAGCCGG	GGCCGGAGCCGG	-	rs151026788	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	GGCCGGAGCCGG	GGCCGGAGCCGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:63788984_63788995delGGCCGGAGCCGG	ENST00000371116.2	+	1	255_266	c.255_266delGGCCGGAGCCGG	c.(253-267)gcggccggagccggg>gcg	p.AGAG86del	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	86					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAAGGAGGCGGCCGGAGCCGGGGCCGGACCG	0.797														71	0.0141773	0.0522	0.0029	5008	,	,		8704	0.0		0.0	False		,,,				2504	0.0				Pancreas(68;276 1750 11966 31252)												0								ENSG00000187140			79,1693		29,21,836						2.0	0.8		dbSNP_134	3	3,4037		1,1,2018	no	coding	FOXD3	NM_012183.2		30,22,2854	A1A1,A1R,RR		0.0743,4.4582,1.4109				82,5730				FOXD3	SO:0001651	inframe_deletion	0				HGNC	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.255_266delGGCCGGAGCCGG	1.37:g.63788984_63788995delGGCCGGAGCCGG	ENSP00000360157:p.Ala86_Gly89del	Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q9BYM2|Q9UDD1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.AGAG88in_frame_del	ENST00000371116.2	37	c.255_266	CCDS624.1	1																																																																																			-	NULL		0.797	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	protein_coding	OTTHUMT00000025331.1	GGCCGGAGCCGG				63788995	+1	no_errors	ENST00000371116	ensembl	human	known	74_37	in_frame_del	DEL	0.833:0.408:0.422:0.421:0.968:0.982:0.968:1.000:1.000:1.000:1.000:0.998	-
AACS	65985	genome.wustl.edu	37	12	125609312	125609312	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:125609312C>T	ENST00000316519.6	+	11	1389	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S	AACS_ENST00000261686.6_Missense_Mutation_p.P395S|AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	395					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGCCATGAAGCCGGGTGAGTG	0.522																																																	0								ENSG00000081760						116.0	100.0	105.0					12																	125609312		2203	4300	6503	AACS	SO:0001583	missense	0			-	HGNC	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1183C>T	12.37:g.125609312C>T	ENSP00000324842:p.Pro395Ser	Somatic	0	50	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	44	36.23	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.P395S	ENST00000316519.6	37	c.1183	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437028	0.83885	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000441247;ENST00000538851	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.47	4.47	0.54385	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.81741	-0.0794	10	0.72032	D	0.01	.	17.1511	0.86778	0.0:1.0:0.0:0.0	.	395;395	Q86V21-2;Q86V21	.;AACS_HUMAN	S	395;395;214;60	ENSP00000324842:P395S;ENSP00000261686:P395S;ENSP00000392967:P214S;ENSP00000441686:P60S	ENSP00000261686:P395S	P	+	1	0	AACS	124175265	1.000000	0.71417	0.991000	0.47740	0.751000	0.42716	6.807000	0.75201	2.025000	0.59659	0.462000	0.41574	CCG	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth		0.522	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	protein_coding	OTTHUMT00000400202.1	C	NM_023928	-		125609312	+1	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	SNP	1.000	T
ACLY	47	genome.wustl.edu	37	17	40025733	40025733	+	Silent	SNP	G	G	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:40025733G>C	ENST00000352035.2	-	26	3175	c.3045C>G	c.(3043-3045)acC>acG	p.T1015T	ACLY_ENST00000537919.1_Silent_p.T744T|ACLY_ENST00000590151.1_Silent_p.T1015T|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Silent_p.T1005T|ACLY_ENST00000353196.1_Silent_p.T1005T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1015					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTACCTTCGAGGTGGTAATCT	0.453																																					Colon(64;807 1396 15971 30971)												0								ENSG00000131473						167.0	149.0	155.0					17																	40025733		2203	4300	6503	ACLY	SO:0001819	synonymous_variant	0			-	HGNC	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3045C>G	17.37:g.40025733G>C		Somatic	0	40	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.T1015	ENST00000352035.2	37	c.3045	CCDS11412.1	17																																																																																			-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase		0.453	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	protein_coding	OTTHUMT00000257465.1	G	NM_001096	-		40025733	-1	no_errors	ENST00000352035	ensembl	human	known	74_37	silent	SNP	0.903	C
SNX6	58533	genome.wustl.edu	37	14	35074802	35074802	+	Splice_Site	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr14:35074802G>T	ENST00000362031.4	-	5	458	c.428C>A	c.(427-429)gCt>gAt	p.A143D	SNX6_ENST00000396534.3_Splice_Site_p.A15D|SNX6_ENST00000396526.3_Splice_Site_p.A15D|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		aaTCACTTACGCTTCCAGTTC	0.353																																																	0								ENSG00000129515						86.0	71.0	76.0					14																	35074802		2203	4300	6503	SNX6	SO:0001630	splice_region_variant	0			-	HGNC	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.428+1C>A	14.37:g.35074802G>T		Somatic	0	31	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	C0H5W9|Q9Y449	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.A143D	ENST00000362031.4	37	c.428	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.071174	0.93950	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000557265	T;T;T;T	0.40476	1.77;1.77;1.03;1.03	5.26	5.26	0.73747	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.66551	-0.5895	9	.	.	.	-13.0071	19.7471	0.96257	0.0:0.0:1.0:0.0	.	131	Q9UNH7	SNX6_HUMAN	D	15;15;143;106	ENSP00000379779:A15D;ENSP00000379785:A15D;ENSP00000355217:A143D;ENSP00000452577:A106D	.	A	-	2	0	SNX6	34144553	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.658000	0.98594	2.838000	0.97847	0.591000	0.81541	GCT	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox		0.353	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	protein_coding	OTTHUMT00000276642.3	G		-	Missense_Mutation	35074802	-1	no_errors	ENST00000362031	ensembl	human	known	74_37	missense	SNP	1.000	T
NWD1	284434	genome.wustl.edu	37	19	16861027	16861027	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr19:16861027C>T	ENST00000552788.1	+	4	1574	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V	NWD1_ENST00000524140.2_Missense_Mutation_p.A525V|NWD1_ENST00000549814.1_Missense_Mutation_p.A525V|NWD1_ENST00000523826.1_Missense_Mutation_p.A319V|NWD1_ENST00000339803.6_Missense_Mutation_p.A390V|NWD1_ENST00000379808.3_Missense_Mutation_p.A525V			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	525	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGCTCTGGGCCAGCCTCCCA	0.637																																																	0								ENSG00000188039						32.0	33.0	33.0					19																	16861027		2202	4298	6500	NWD1	SO:0001583	missense	0			-	HGNC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1574C>T	19.37:g.16861027C>T	ENSP00000447224:p.Ala525Val	Somatic	0	76	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	59	32.18	C9J021|Q68CT3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A525V	ENST00000552788.1	37	c.1574		19	.	.	.	.	.	.	.	.	.	.	c	16.29	3.080735	0.55753	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57595	0.4;0.46;0.4;0.39;0.46;0.45	5.04	1.39	0.22231	.	0.804025	0.11554	N	0.552455	T	0.53190	0.1781	L	0.42245	1.32	0.27592	N	0.949247	B;B;D	0.67145	0.142;0.113;0.996	B;B;P	0.60609	0.025;0.055;0.877	T	0.41142	-0.9525	10	0.31617	T	0.26	-20.4879	3.094	0.06303	0.1656:0.4323:0.305:0.0971	.	525;525;390	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	V	390;525;525;525;319;525;390	ENSP00000428579:A525V;ENSP00000447548:A525V;ENSP00000369136:A525V;ENSP00000428955:A319V;ENSP00000447224:A525V;ENSP00000340159:A390V	ENSP00000340159:A390V	A	+	2	0	NWD1	16722027	1.000000	0.71417	0.994000	0.49952	0.679000	0.39708	1.369000	0.34227	0.473000	0.27368	0.549000	0.68633	GCC	-	superfamily_P-loop_NTPase		0.637	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	protein_coding	OTTHUMT00000403569.1	C	NM_001007525	-		16861027	+1	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	SNP	1.000	T
MBP	4155	genome.wustl.edu	37	18	74701989	74701989	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr18:74701989G>C	ENST00000397869.3	-	2	251	c.205C>G	c.(205-207)Cac>Gac	p.H69D	MBP_ENST00000397866.4_Missense_Mutation_p.H69D|MBP_ENST00000526111.1_Missense_Mutation_p.H47D|MBP_ENST00000355994.2_Missense_Mutation_p.H202D|MBP_ENST00000359645.3_Missense_Mutation_p.H95D|MBP_ENST00000397875.3_Missense_Mutation_p.H69D|MBP_ENST00000527041.1_Missense_Mutation_p.H69D|MBP_ENST00000397865.5_Missense_Mutation_p.H69D|MBP_ENST00000580402.1_Missense_Mutation_p.H202D|MBP_ENST00000578193.1_Missense_Mutation_p.H69D|MBP_ENST00000382582.3_Missense_Mutation_p.H95D|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Missense_Mutation_p.H202D			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GAGCCGTAGTGAGCAGTTCTT	0.572																																					NSCLC(17;72 1131 19392)												0								ENSG00000197971						128.0	116.0	120.0					18																	74701989		2203	4300	6503	MBP	SO:0001583	missense	0			-	HGNC		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.205C>G	18.37:g.74701989G>C	ENSP00000380967:p.His69Asp	Somatic	0	35	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myelin_BP,prints_Myelin_BP	p.H202D	ENST00000397869.3	37	c.604		18	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908242	0.52333	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000527041;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114;ENST00000498683	.	.	.	4.6	4.6	0.57074	.	0.160845	0.42821	D	0.000650	T	0.69124	0.3076	L	0.61218	1.895	0.33079	D	0.536427	D;D;D;D;D	0.67145	0.996;0.987;0.994;0.995;0.995	D;D;D;D;D	0.87578	0.998;0.979;0.983;0.996;0.996	T	0.77981	-0.2383	9	0.72032	D	0.01	-9.1513	14.7605	0.69602	0.0:0.0:1.0:0.0	.	69;202;69;95;95	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	D	95;202;69;69;69;69;95;69;47;69;13;69	.	ENSP00000348273:H202D	H	-	1	0	MBP	72830977	1.000000	0.71417	0.142000	0.22268	0.145000	0.21501	4.945000	0.63568	2.396000	0.81511	0.563000	0.77884	CAC	-	pfam_Myelin_BP		0.572	MBP-024	NOVEL	basic|exp_conf	protein_coding	MBP	protein_coding	OTTHUMT00000267964.1	G	NM_001025081	-		74701989	-1	no_errors	ENST00000355994	ensembl	human	known	74_37	missense	SNP	0.310	C
COL18A1	80781	genome.wustl.edu	37	21	46924417	46924434	+	In_Frame_Del	DEL	GGCCCCCCCGGCCCCCCA	GGCCCCCCCGGCCCCCCA	-	rs543392161|rs149296338|rs201180574|rs78227997|rs531174886|rs28696990	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	GGCCCCCCCGGCCCCCCA	GGCCCCCCCGGCCCCCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr21:46924417_46924434delGGCCCCCCCGGCCCCCCA	ENST00000359759.4	+	33	4081_4098	c.4060_4077delGGCCCCCCCGGCCCCCCA	c.(4060-4077)ggcccccccggccccccadel	p.GPPGPP1354del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.GPPGPP939del|COL18A1_ENST00000355480.5_In_Frame_Del_p.GPPGPP1119del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1354	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGCCTgcccggcccccccggccccccaggccccccag	0.702														83	0.0165735	0.0469	0.0101	5008	,	,		12766	0.002		0.007	False		,,,				2504	0.0051																0								ENSG00000182871		,	94,2098		23,48,1025					,	-8.8	0.0		dbSNP_130	6	160,5110		21,118,2496	no	coding,coding	COL18A1	NM_130445.2,NM_030582.3	,	44,166,3521	A1A1,A1R,RR		3.0361,4.2883,3.4039	,	,		254,7208				COL18A1	SO:0001651	inframe_deletion	0				HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4060_4077delGGCCCCCCCGGCCCCCCA	21.37:g.46924417_46924434delGGCCCCCCCGGCCCCCCA	ENSP00000352798:p.Gly1354_Pro1359del	Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.GPPGPP1357in_frame_del	ENST00000359759.4	37	c.4060_4077		21																																																																																			-	NULL		0.702	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	GGCCCCCCCGGCCCCCCA				46924434	+1	no_errors	ENST00000359759	ensembl	human	known	74_37	in_frame_del	DEL	0.865:0.877:0.309:0.348:0.431:0.420:0.400:0.361:0.198:0.307:0.391:0.336:0.964:0.952:0.917:0.918:0.919:0.837	-
FIZ1	84922	genome.wustl.edu	37	19	56108990	56108990	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr19:56108990C>T	ENST00000221665.3	-	2	331	c.242G>A	c.(241-243)tGc>tAc	p.C81Y	FIZ1_ENST00000592585.1_Intron|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	81					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCAGGCAGAGCAGCGGTAGGG	0.682																																																	0								ENSG00000179943						37.0	35.0	36.0					19																	56108990		2203	4300	6503	FIZ1	SO:0001583	missense	0			-	HGNC	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.242G>A	19.37:g.56108990C>T	ENSP00000221665:p.Cys81Tyr	Somatic	0	45	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	19.57	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C81Y	ENST00000221665.3	37	c.242	CCDS12928.1	19	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146689	0.57151	.	.	ENSG00000179943	ENST00000221665	D	0.85088	-1.94	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92169	0.7517	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93463	0.6812	9	0.87932	D	0	-26.0308	14.463	0.67465	0.0:1.0:0.0:0.0	.	81	Q96SL8	FIZ1_HUMAN	Y	81	ENSP00000221665:C81Y	ENSP00000221665:C81Y	C	-	2	0	FIZ1	60800802	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.184000	0.77705	2.017000	0.59298	0.462000	0.41574	TGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	protein_coding	OTTHUMT00000453350.1	C	NM_032836	-		56108990	-1	no_errors	ENST00000221665	ensembl	human	known	74_37	missense	SNP	1.000	T
NCOR2	9612	genome.wustl.edu	37	12	124887058	124887059	+	In_Frame_Ins	INS	-	-	GCT	rs372331070|rs35831183|rs559681337	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr12:124887058_124887059insGCT	ENST00000405201.1	-	14	1531_1532	c.1531_1532insAGC	c.(1531-1533)ccc>cAGCcc	p.510_511insQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.510_511insQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.509_510insQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.509_510insQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.510_511insQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.80_81insQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	510	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCATGGgctgctgctgc	0.619														1535	0.30651	0.1906	0.3401	5008	,	,		20949	0.2401		0.4006	False		,,,				2504	0.411																0								ENSG00000196498																																			NCOR2	SO:0001652	inframe_insertion	0				HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1529_1531dupAGC	12.37:g.124887065_124887067dupGCT	ENSP00000384018:p.Gln510_Gln510dup	Somatic	0	19	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	18	33.33	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.511in_frame_insQ	ENST00000405201.1	37	c.1532_1531	CCDS41858.2	12																																																																																			-	NULL		0.619	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	-	NM_006312			124887059	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	in_frame_ins	INS	0.999:1.000	GCT
RPEL1	729020	genome.wustl.edu	37	10	105006438	105006438	+	Nonstop_Mutation	SNP	T	T	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:105006438T>A	ENST00000441178.2	+	1	795	c.685T>A	c.(685-687)Tga>Aga	p.*229R		NM_001143909.1	NP_001137381.1																					TCTTGATCGATGAAACCATAA	0.393																																																	0								ENSG00000235376						89.0	68.0	74.0					10																	105006438		692	1591	2283	RP11-332O19.5	SO:0001578	stop_lost	0			-	Clone_based_vega_gene																												ENST00000441178.2:c.685T>A	10.37:g.105006438T>A	ENSP00000476672:p.*229Argext*68	Somatic	0	56	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	20	50.00		Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel	p.*229R	ENST00000441178.2	37	c.685		10																																																																																			-	NULL		0.393	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	LOC729020	protein_coding	OTTHUMT00000050120.2	T		-		105006438	+1	no_errors	ENST00000441178	ensembl	human	putative	74_37	nonstop	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2115569	2115596	+	Frame_Shift_Del	DEL	TGGCCGCATACTCGGCCTCCTTGGAGGA	TGGCCGCATACTCGGCCTCCTTGGAGGA	-	rs373515515|rs137854159|rs45471596|rs149877669|rs202171361	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	TGGCCGCATACTCGGCCTCCTTGGAGGA	TGGCCGCATACTCGGCCTCCTTGGAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:2115569_2115596delTGGCCGCATACTCGGCCTCCTTGGAGGA	ENST00000219476.3	+	16	2279_2306	c.1649_1676delTGGCCGCATACTCGGCCTCCTTGGAGGA	c.(1648-1677)gtggccgcatactcggcctccttggaggatfs	p.VAAYSASLED550fs	TSC2_ENST00000439673.2_Frame_Shift_Del_p.VAAYSASLED513fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.VAAYSASLED561fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.VAAYSASLED550fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.VAAYSASLED550fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.VAAYSASLED501fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.VAAYSASLED550fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	550					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A552T(1)|p.Y553Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACA	0.623			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(1)|central_nervous_system(1)	GRCh37	CM992682	TSC2	M	rs45471596	ENSG00000103197																																			TSC2	SO:0001589	frameshift_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease		HGNC	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1649_1676delTGGCCGCATACTCGGCCTCCTTGGAGGA	16.37:g.2115569_2115596delTGGCCGCATACTCGGCCTCCTTGGAGGA	ENSP00000219476:p.Val550fs	Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.A551fs	ENST00000219476.3	37	c.1649_1676	CCDS10458.1	16																																																																																			-	superfamily_ARM-type_fold		0.623	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	TGGCCGCATACTCGGCCTCCTTGGAGGA	NM_000548			2115596	+1	no_errors	ENST00000219476	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.025:0.726:0.836:0.931:0.931:0.685:0.981:1.000:0.997:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.989	-
TRAF2	7186	genome.wustl.edu	37	9	139793212	139793212	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr9:139793212delC	ENST00000247668.2	+	2	72	c.20delC	c.(19-21)accfs	p.T7fs	TRAF2_ENST00000359662.3_Frame_Shift_Del_p.T7fs|TRAF2_ENST00000536468.1_Frame_Shift_Del_p.T7fs	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCTAGCGTGACCCCCCCTGGC	0.592																																																	0								ENSG00000127191						39.0	39.0	39.0					9																	139793212		2203	4299	6502	TRAF2	SO:0001589	frameshift_variant	0				HGNC	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.20delC	9.37:g.139793212delC	ENSP00000247668:p.Thr7fs	Somatic	0	37	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K107|B4DPJ7|Q7Z337|Q96NT2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.P9fs	ENST00000247668.2	37	c.20	CCDS7013.1	9																																																																																			-	pirsf_TNF_rcpt--assoc_TRAF		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	protein_coding	OTTHUMT00000055166.1	C	NM_021138			139793212	+1	no_errors	ENST00000359662	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
OR5J2	282775	genome.wustl.edu	37	11	55944513	55944513	+	Silent	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr11:55944513G>A	ENST00000312298.1	+	1	420	c.420G>A	c.(418-420)aaG>aaA	p.K140K		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K140N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGATAGAAAGTGTGTGGAGC	0.453																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000174957						163.0	150.0	155.0					11																	55944513		2201	4296	6497	OR5J2	SO:0001819	synonymous_variant	0			-	HGNC	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.420G>A	11.37:g.55944513G>A		Somatic	0	21	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	5	58.33	Q6IEU5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.K140	ENST00000312298.1	37	c.420	CCDS31522.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	protein_coding	OTTHUMT00000391544.1	G	NM_001005492	-		55944513	+1	no_errors	ENST00000312298	ensembl	human	known	74_37	silent	SNP	0.001	A
ATRX	546	genome.wustl.edu	37	X	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTCGTTTCTTTTTAGAAAT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						97.0	106.0	103.0					X																	76938331		2201	4293	6494	ATRX	SO:0001589	frameshift_variant	0				HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2417delA	X.37:g.76938331delT	ENSP00000362441:p.Lys807fs	Somatic	0	93	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	28	54.10	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K806fs	ENST00000373344.5	37	c.2417	CCDS14434.1	X																																																																																			-	NULL		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489			76938331	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
RALYL	138046	genome.wustl.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C|RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000521376.1_Missense_Mutation_p.R127C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423																																																	0								ENSG00000184672						55.0	53.0	54.0					8																	85785593		1909	4107	6016	RALYL	SO:0001583	missense	0			-	HGNC		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.646C>T	8.37:g.85785593C>T	ENSP00000430367:p.Arg216Cys	Somatic	0	57	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	10	67.74	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R216C	ENST00000521268.1	37	c.646	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040216	0.55003	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.21031	2.76;2.76;2.76;2.74;2.75;2.3;2.03	6.16	3.12	0.35913	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	M	0.77103	2.36	0.45097	D	0.998112	P;D;P;P;D	0.53885	0.768;0.963;0.743;0.851;0.963	B;B;B;B;B	0.43728	0.225;0.429;0.176;0.399;0.429	T	0.07385	-1.0775	10	0.87932	D	0	-3.0131	7.8421	0.29403	0.5307:0.3874:0.0:0.0819	.	205;216;143;229;216	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	216;216;216;205;229;143;127	ENSP00000430394:R216C;ENSP00000428667:R216C;ENSP00000430367:R216C;ENSP00000430065:R205C;ENSP00000430128:R229C;ENSP00000428807:R143C;ENSP00000428310:R127C	ENSP00000430128:R229C	R	+	1	0	RALYL	85948148	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.492000	0.45311	0.907000	0.36646	0.650000	0.86243	CGC	-	pirsf_hnRNP_C_Raly		0.423	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	protein_coding	OTTHUMT00000379448.1	C		-		85785593	+1	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	SNP	0.999	T
PREX1	57580	genome.wustl.edu	37	20	47271871	47271871	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr20:47271871C>A	ENST00000371941.3	-	19	2188	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q722H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	722					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCACGAATCTGGAAGCACA	0.557																																																	0								ENSG00000124126						135.0	95.0	109.0					20																	47271871		2203	4300	6503	PREX1	SO:0001583	missense	0			-	HGNC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2166G>T	20.37:g.47271871C>A	ENSP00000361009:p.Gln722His	Somatic	0	58	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	54	31.65	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q722H	ENST00000371941.3	37	c.2166	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191027	0.78789	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.46451	0.87;0.87	4.85	4.85	0.62838	PDZ/DHR/GLGF (2);	0.000000	0.52532	U	0.000074	T	0.60881	0.2303	L	0.59436	1.845	0.53005	D	0.999964	D;D	0.69078	0.994;0.997	P;D	0.65573	0.873;0.936	T	0.65459	-0.6163	10	0.87932	D	0	.	17.991	0.89169	0.0:1.0:0.0:0.0	.	722;19	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	722	ENSP00000361009:Q722H;ENSP00000379522:Q722H	ENSP00000361009:Q722H	Q	-	3	2	PREX1	46705278	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	4.259000	0.58828	2.228000	0.72767	0.655000	0.94253	CAG	-	superfamily_PDZ,smart_PDZ		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	C	NM_020820	-		47271871	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	SNP	1.000	A
FASN	2194	genome.wustl.edu	37	17	80042159	80042159	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:80042159T>A	ENST00000306749.2	-	28	5088	c.4870A>T	c.(4870-4872)Acc>Tcc	p.T1624S	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1624					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGGACAGAGGTGGCCAGGCCC	0.652																																					Colon(59;314 1043 11189 28578 32273)												0								ENSG00000169710						65.0	61.0	62.0					17																	80042159		2195	4292	6487	FASN	SO:0001583	missense	0			-	HGNC	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4870A>T	17.37:g.80042159T>A	ENSP00000304592:p.Thr1624Ser	Somatic	0	18	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.T1624S	ENST00000306749.2	37	c.4870	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872586	0.72180	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27720	1.65	4.66	4.66	0.58398	GroES-like (1);Polyketide synthase, enoylreductase (1);	0.052433	0.85682	D	0.000000	T	0.47154	0.1430	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44711	-0.9310	10	0.54805	T	0.06	-58.2553	14.0844	0.64947	0.0:0.0:0.0:1.0	.	1624	P49327	FAS_HUMAN	S	1624;589	ENSP00000304592:T1624S	ENSP00000304592:T1624S	T	-	1	0	FASN	77635448	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.846000	0.69444	1.730000	0.51580	0.402000	0.26972	ACC	-	superfamily_GroES-like,smart_PKS_ER		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	T	NM_004104	-		80042159	-1	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	SNP	1.000	A
NBEA	26960	genome.wustl.edu	37	13	36223860	36223860	+	Silent	SNP	G	G	A			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr13:36223860G>A	ENST00000400445.3	+	51	8310	c.7776G>A	c.(7774-7776)aaG>aaA	p.K2592K	NBEA_ENST00000537702.1_Silent_p.K385K|NBEA_ENST00000379939.2_Silent_p.K2589K|NBEA_ENST00000310336.4_Silent_p.K2592K|NBEA_ENST00000379922.3_Silent_p.K170K|NBEA_ENST00000540320.1_Silent_p.K2592K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2592					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGCTGAAGTTTCCTTCAA	0.483																																																	0								ENSG00000172915						201.0	198.0	199.0					13																	36223860		2020	4190	6210	NBEA	SO:0001819	synonymous_variant	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7776G>A	13.37:g.36223860G>A		Somatic	0	42	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K2592	ENST00000400445.3	37	c.7776	CCDS45026.1	13																																																																																			-	NULL		0.483	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		36223860	+1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	SNP	1.000	A
C10orf107	219621	genome.wustl.edu	37	10	63445876	63445876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr10:63445876A>T	ENST00000330194.2	+	3	453	c.148A>T	c.(148-150)Aag>Tag	p.K50*	RP11-63A2.2_ENST00000608672.1_RNA	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	50										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ACATTCGCAAAAGAGTGAGGA	0.333																																																	0								ENSG00000183346						95.0	95.0	95.0					10																	63445876		2203	4300	6503	C10orf107	SO:0001587	stop_gained	0			-	HGNC	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.148A>T	10.37:g.63445876A>T	ENSP00000328698:p.Lys50*	Somatic	0	127	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	76	36.67	Q5T1B8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.K50*	ENST00000330194.2	37	c.148	CCDS7262.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.03|10.03	1.238204|1.238204	0.22711|0.22711	.|.	.|.	ENSG00000183346|ENSG00000183346	ENST00000389639|ENST00000330194	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000014|0.000014	T|.	0.25568|.	0.0622|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30475|.	-0.9977|.	4|.	.|0.02654	.|T	.|1	-14.0709|-14.0709	10.0296|10.0296	0.42092|0.42092	0.914:0.0:0.086:0.0|0.914:0.0:0.086:0.0	.|.	.|.	.|.	.|.	N|X	38|50	.|.	.|ENSP00000328698:K50X	K|K	+|+	3|1	2|0	C10orf107|C10orf107	63115882|63115882	0.202000|0.202000	0.23423|0.23423	0.011000|0.011000	0.14972|0.14972	0.013000|0.013000	0.08279|0.08279	2.259000|2.259000	0.43259|0.43259	1.989000|1.989000	0.58080|0.58080	0.482000|0.482000	0.46254|0.46254	AAA|AAG	-	NULL		0.333	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf107	protein_coding	OTTHUMT00000048228.2	A	NM_173554	-		63445876	+1	no_errors	ENST00000330194	ensembl	human	known	74_37	nonsense	SNP	0.140	T
LOR	4014	genome.wustl.edu	37	1	153233488	153233489	+	In_Frame_Ins	INS	-	-	GGCGGT	rs150026164	byFrequency	TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr1:153233488_153233489insGGCGGT	ENST00000368742.3	+	2	120_121	c.63_64insGGCGGT	c.(64-66)ggc>GGCGGTggc	p.22_22G>GGG		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	22					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G22S(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACCTCTggcggcggtggcgg	0.673														971	0.19389	0.3812	0.1542	5008	,	,		8118	0.0685		0.2326	False		,,,				2504	0.0583																1	Substitution - Missense(1)	lung(1)						ENSG00000203782			1372,2418		364,644,887						1.9	0.9		dbSNP_130	14	1619,5813		315,989,2412	no	coding	LOR	NM_000427.2		679,1633,3299	A1A1,A1R,RR		21.7842,36.2005,26.653				2991,8231				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.70_75dupGGCGGT	1.37:g.153233489_153233494dupGGCGGT	ENSP00000357731:p.GlyGly28dup	Somatic	NA	NA	NA		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5T869|Q5XKF8	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.25in_frame_insGG	ENST00000368742.3	37	c.63_64	CCDS30870.1	1																																																																																			-	NULL		0.673	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233489	+1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.924:0.986	GGCGGT
GALNT14	79623	genome.wustl.edu	37	2	31167809	31167809	+	Splice_Site	SNP	C	C	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:31167809C>T	ENST00000349752.5	-	8	1382		c.e8-1		GALNT14_ENST00000324589.5_Splice_Site|GALNT14_ENST00000356174.3_Splice_Site|GALNT14_ENST00000486564.1_Splice_Site|GALNT14_ENST00000420311.2_Splice_Site|GALNT14_ENST00000406653.1_Splice_Site	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTCAAACCCTACAACACAG	0.577																																																	0								ENSG00000158089						54.0	57.0	56.0					2																	31167809		2203	4300	6503	GALNT14	SO:0001630	splice_region_variant	0			-	HGNC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.743-1G>A	2.37:g.31167809C>T		Somatic	0	29	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e8-1	ENST00000349752.5	37	c.743-1	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735864	0.69189	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3749	0.90432	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GALNT14	31021313	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	7.603000	0.82811	2.502000	0.84385	0.456000	0.33151	.	-	-		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	C	NM_024572	-	Intron	31167809	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	splice_site	SNP	1.000	T
CCDC43	124808	genome.wustl.edu	37	17	42759385	42759385	+	Silent	SNP	C	C	G			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr17:42759385C>G	ENST00000315286.8	-	3	422	c.414G>C	c.(412-414)gtG>gtC	p.V138V	CCDC43_ENST00000457422.2_Silent_p.V138V|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Silent_p.V138V	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	138										lung(2)	2		Prostate(33;0.0322)				CTTCATCTGTCACATCAGCAT	0.478																																																	0								ENSG00000180329						198.0	192.0	194.0					17																	42759385		1996	4165	6161	CCDC43	SO:0001819	synonymous_variant	0			-	HGNC	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.414G>C	17.37:g.42759385C>G		Somatic	0	43	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	48	28.36	C9JVK9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V138	ENST00000315286.8	37	c.414	CCDS45704.1	17																																																																																			-	NULL		0.478	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	protein_coding	OTTHUMT00000457812.1	C	NM_144609	-		42759385	-1	no_errors	ENST00000315286	ensembl	human	known	74_37	silent	SNP	1.000	G
MYRIP	25924	genome.wustl.edu	37	3	40192545	40192545	+	Silent	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr3:40192545G>T	ENST00000302541.6	+	4	681	c.339G>T	c.(337-339)ctG>ctT	p.L113L	MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000425621.1_Silent_p.L113L|MYRIP_ENST00000444716.1_Silent_p.L113L|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	113	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCAGGCTTCTGAGGGCCCAAT	0.443																																																	0								ENSG00000170011						35.0	36.0	36.0					3																	40192545		2203	4300	6503	MYRIP	SO:0001819	synonymous_variant	0			-	HGNC	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.339G>T	3.37:g.40192545G>T		Somatic	0	48	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.L113	ENST00000302541.6	37	c.339	CCDS2689.1	3																																																																																			-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ		0.443	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	protein_coding	OTTHUMT00000254181.2	G	NM_015460	-		40192545	+1	no_errors	ENST00000302541	ensembl	human	known	74_37	silent	SNP	0.995	T
FIBCD1	84929	genome.wustl.edu	37	9	133779388	133779388	+	3'UTR	SNP	A	A	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr9:133779388A>T	ENST00000372338.4	-	0	1691				FIBCD1_ENST00000372337.2_3'UTR|FIBCD1_ENST00000253018.4_Missense_Mutation_p.S182T|FIBCD1_ENST00000448616.1_3'UTR	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCACGAAAGAGTGAGGTGGG	0.657																																																	0								ENSG00000130720																																			FIBCD1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.*63T>A	9.37:g.133779388A>T		Somatic	0	105	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	76	40.31	A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S182T	ENST00000372338.4	37	c.544	CCDS6937.1	9	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282132	0.40394	.	.	ENSG00000130720	ENST00000253018	T	0.39997	1.05	3.35	-5.39	0.02664	.	.	.	.	.	T	0.34483	0.0899	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.47509	-0.9112	6	0.87932	D	0	.	5.582	0.17254	0.6787:0.0:0.1686:0.1527	.	.	.	.	T	182	ENSP00000253018:S182T	ENSP00000253018:S182T	S	-	1	0	FIBCD1	132769209	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.883000	0.04170	-1.102000	0.03023	0.369000	0.22263	TCT	-	smart_Fibrinogen_a/b/g_C_dom		0.657	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	protein_coding	OTTHUMT00000054687.2	A	NM_032843	-		133779388	-1	no_errors	ENST00000253018	ensembl	human	known	74_37	missense	SNP	0.000	T
CCDC141	285025	genome.wustl.edu	37	2	179742829	179742829	+	Silent	SNP	G	G	T			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr2:179742829G>T	ENST00000409284.1	-	12	1878	c.1761C>A	c.(1759-1761)acC>acA	p.T587T	CCDC141_ENST00000295723.5_Silent_p.T12T|CCDC141_ENST00000420890.2_Silent_p.T587T			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	587										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGGGATTTCGGTTTCATAAA	0.348																																																	0								ENSG00000163492						70.0	68.0	68.0					2																	179742829		2203	4300	6503	CCDC141	SO:0001819	synonymous_variant	0			-	HGNC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1761C>A	2.37:g.179742829G>T		Somatic	0	43	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	9	60.87	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T587	ENST00000409284.1	37	c.1761		2																																																																																			-	NULL		0.348	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	protein_coding	OTTHUMT00000335873.1	G	NM_173648	-		179742829	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	silent	SNP	0.000	T
CES4A	283848	genome.wustl.edu	37	16	67040651	67040651	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QC-AA9N-01A-11D-A38Z-09	TCGA-QC-AA9N-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1	1727bafa-c06e-4501-9dfe-578c49796d73	g.chr16:67040651delT	ENST00000326686.5	+	13	1448	c.1448delT	c.(1447-1449)cttfs	p.L483fs	CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Frame_Shift_Del_p.L413fs|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000541479.1_Frame_Shift_Del_p.L436fs|CES4A_ENST00000540579.1_Frame_Shift_Del_p.L385fs|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000535696.1_Intron			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	483						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCCCCAGGCCTTTCCATGGGT	0.577																																																	0								ENSG00000172824						112.0	117.0	115.0					16																	67040651		2033	4187	6220	CES4A	SO:0001589	frameshift_variant	0				HGNC	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1448delT	16.37:g.67040651delT	ENSP00000314145:p.Leu483fs	Somatic	0	55	0.00		0.7227904485388758	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S484fs	ENST00000326686.5	37	c.1448		16																																																																																			-	pfam_CarbesteraseB		0.577	CES4A-201	KNOWN	basic|appris_principal	protein_coding	CES4A	protein_coding		T	NM_173815			67040651	+1	no_errors	ENST00000326686	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
