#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
PIP5KL1	138429	genome.wustl.edu	37	9	130687388	130687388	+	Silent	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:130687388G>T	ENST00000388747.4	-	9	959	c.915C>A	c.(913-915)gcC>gcA	p.A305A	PIP5KL1_ENST00000490773.1_5'Flank|PIP5KL1_ENST00000300432.3_Silent_p.A102A	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	305	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGGCTCACCTGGCCGTGCGGA	0.617																																																	0								ENSG00000167103						72.0	77.0	75.0					9																	130687388		2203	4300	6503	PIP5KL1	SO:0001819	synonymous_variant	0			-	HGNC	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.915C>A	9.37:g.130687388G>T		Somatic	0	160	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q8IVS3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A102	ENST00000388747.4	37	c.306	CCDS48030.1	9																																																																																			-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.617	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	protein_coding	OTTHUMT00000054289.2	G	NM_173492	-		130687388	-1	no_errors	ENST00000300432	ensembl	human	known	74_37	silent	SNP	0.960	T
ELP3	55140	genome.wustl.edu	37	8	28017900	28017900	+	Missense_Mutation	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:28017900T>C	ENST00000256398.8	+	13	1789	c.1412T>C	c.(1411-1413)aTa>aCa	p.I471T	ELP3_ENST00000380353.4_Missense_Mutation_p.I379T|ELP3_ENST00000521015.1_Missense_Mutation_p.I457T|ELP3_ENST00000537665.1_Missense_Mutation_p.I352T|ELP3_ENST00000524103.1_Missense_Mutation_p.I399T|ELP3_ENST00000542181.1_Missense_Mutation_p.I342T	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	471	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGTGTCTCCATAGTACGAGAG	0.458																																																	0								ENSG00000134014						159.0	134.0	143.0					8																	28017900		2203	4300	6503	ELP3	SO:0001583	missense	0			-	HGNC		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1412T>C	8.37:g.28017900T>C	ENSP00000256398:p.Ile471Thr	Somatic	0	46	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.I471T	ENST00000256398.8	37	c.1412	CCDS6065.1	8	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487537	0.84854	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.095415	0.64402	D	0.000001	T	0.78201	0.4246	M	0.92738	3.34	0.80722	D	1	P;P	0.46277	0.482;0.875	P;P	0.51550	0.474;0.673	D	0.83861	0.0268	9	0.87932	D	0	-15.5625	13.249	0.60041	0.0:0.0:0.0:1.0	.	352;471	B4DE19;Q9H9T3	.;ELP3_HUMAN	T	457;471;342;399;352;379;70	.	ENSP00000256398:I471T	I	+	2	0	ELP3	28073819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.975000	0.88055	2.057000	0.61298	0.533000	0.62120	ATA	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3		0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	protein_coding	OTTHUMT00000219963.2	T	NM_018091	-		28017900	+1	no_errors	ENST00000256398	ensembl	human	known	74_37	missense	SNP	1.000	C
C16orf78	123970	genome.wustl.edu	37	16	49411650	49411650	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:49411650G>T	ENST00000299191.3	+	2	276	c.159G>T	c.(157-159)aaG>aaT	p.K53N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	53						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGAAGCAAAAGCCCAAAGTGG	0.557																																																	0								ENSG00000166152						51.0	49.0	50.0					16																	49411650		2199	4300	6499	C16orf78	SO:0001583	missense	0			-	HGNC	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.159G>T	16.37:g.49411650G>T	ENSP00000299191:p.Lys53Asn	Somatic	0	33	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.K53N	ENST00000299191.3	37	c.159	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	G	13.09	2.131976	0.37630	.	.	ENSG00000166152	ENST00000299191	T	0.50548	0.74	3.12	-0.341	0.12639	.	0.389535	0.18855	N	0.129295	T	0.47764	0.1463	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32981	-0.9886	9	.	.	.	-20.4332	5.7666	0.18229	0.4592:0.0:0.5408:0.0	.	53	Q8WTQ4	CP078_HUMAN	N	53	ENSP00000299191:K53N	.	K	+	3	2	C16orf78	47969151	0.048000	0.20356	0.002000	0.10522	0.021000	0.10359	0.186000	0.16978	-0.057000	0.13199	0.561000	0.74099	AAG	-	NULL		0.557	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	protein_coding	OTTHUMT00000256846.1	G	NM_144602	-		49411650	+1	no_errors	ENST00000299191	ensembl	human	known	74_37	missense	SNP	0.003	T
BRD2	6046	genome.wustl.edu	37	6	32948413	32948413	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr6:32948413G>A	ENST00000374825.4	+	13	4025	c.2324G>A	c.(2323-2325)aGc>aAc	p.S775N	BRD2_ENST00000443797.2_Missense_Mutation_p.S655N|BRD2_ENST00000449085.2_Missense_Mutation_p.S728N|BRD2_ENST00000395287.1_Missense_Mutation_p.S810N|BRD2_ENST00000374831.4_Missense_Mutation_p.S775N|BRD2_ENST00000395289.2_Missense_Mutation_p.S810N	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	775	Poly-Ser.|Ser-rich.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TCACGCCTTAGCGCTTCCAGC	0.507																																																	0								ENSG00000204256						109.0	90.0	97.0					6																	32948413		1511	2709	4220	BRD2	SO:0001583	missense	0			-	HGNC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2324G>A	6.37:g.32948413G>A	ENSP00000363958:p.Ser775Asn	Somatic	0	62	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S810N	ENST00000374825.4	37	c.2429	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844251|3.844251	0.71488|0.71488	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	6.15|6.15	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.44808|0.44808	0.1311|0.1311	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.981	.|D;D	.|0.70227	.|0.968;0.932	T|T	0.36841|0.36841	-0.9731|-0.9731	5|10	.|0.62326	.|D	.|0.03	-10.456|-10.456	14.0664|14.0664	0.64831|0.64831	0.0:0.0:0.8487:0.1513|0.0:0.0:0.8487:0.1513	.|.	.|810;775	.|A2AAU0;P25440	.|.;BRD2_HUMAN	T|N	781|775;775;810;655;810;728	.|ENSP00000363958:S775N;ENSP00000363964:S775N;ENSP00000378704:S810N;ENSP00000413495:S655N;ENSP00000378702:S810N;ENSP00000409145:S728N	.|ENSP00000363958:S775N	A|S	+|+	1|2	0|0	BRD2|BRD2	33056391|33056391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.787000|6.787000	0.75099|0.75099	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GCG|AGC	-	NULL		0.507	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	protein_coding	OTTHUMT00000076503.2	G		-		32948413	+1	no_errors	ENST00000395289	ensembl	human	known	74_37	missense	SNP	1.000	A
IGF2	3481	genome.wustl.edu	37	11	2167563	2167563	+	Intron	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:2167563C>T	ENST00000300632.5	-	2	720				IGF2-AS_ENST00000381363.4_RNA|IGF2-AS_ENST00000445504.2_RNA|INS-IGF2_ENST00000481781.1_5'Flank|IGF2-AS_ENST00000381361.3_RNA	NM_001007139.4	NP_001007140.2	P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GTCCTCAGAGCGCCCCTCCGT	0.672																																																	0								ENSG00000099869						72.0	78.0	76.0					11																	2167563		1917	4121	6038	IGF2-AS	SO:0001627	intron_variant	0			-	HGNC	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000300632.5:c.5+1232G>A	11.37:g.2167563C>T		Somatic	0	65	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	15	58.33	B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000300632.5	37	NULL	CCDS7728.1	11																																																																																			-	-		0.672	IGF2-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2-AS	protein_coding		C	NM_000612	-		2167563	+1	no_errors	ENST00000381361	ensembl	human	known	74_37	rna	SNP	0.000	T
KIF1A	547	genome.wustl.edu	37	2	241662925	241662925	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:241662925G>A	ENST00000320389.7	-	40	4224	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1457W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1356					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCTCGCCCCGGACATAGGCC	0.652																																																	0								ENSG00000130294						20.0	24.0	23.0					2																	241662925		2007	4142	6149	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4066C>T	2.37:g.241662925G>A	ENSP00000322791:p.Arg1356Trp	Somatic	0	73	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	30	40.00	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1457W	ENST00000320389.7	37	c.4369	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276508	0.80580	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.81247	-1.11;-1.21;-1.47	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	D	0.88610	0.6483	M	0.81112	2.525	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.967;0.8	D	0.89606	0.3838	10	0.87932	D	0	.	11.5518	0.50725	0.0:0.0:0.8208:0.1792	.	1457;1465;1356	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	1356;1457;1465;1465	ENSP00000322791:R1356W;ENSP00000438388:R1457W;ENSP00000384231:R1465W	ENSP00000322791:R1356W	R	-	1	2	KIF1A	241311598	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.427000	0.66483	1.403000	0.46800	0.491000	0.48974	CGG	-	NULL		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	G	NM_138483	-		241662925	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	1.000	A
TGM3	7053	genome.wustl.edu	37	20	2308810	2308810	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr20:2308810G>T	ENST00000381458.5	+	9	1195	c.1132G>T	c.(1132-1134)Ggt>Tgt	p.G378C		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	378					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGTTCGAGAGGGTGATGTGCA	0.567																																																	0								ENSG00000125780						147.0	119.0	129.0					20																	2308810		2203	4300	6503	TGM3	SO:0001583	missense	0			-	HGNC	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1132G>T	20.37:g.2308810G>T	ENSP00000370867:p.Gly378Cys	Somatic	0	148	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G378C	ENST00000381458.5	37	c.1132	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001708	0.54254	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.59364	0.27	4.87	4.87	0.63330	.	0.119881	0.56097	D	0.000022	T	0.82250	0.4996	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87240	0.2266	10	0.87932	D	0	.	15.5466	0.76108	0.0:0.0:1.0:0.0	.	378	Q08188	TGM3_HUMAN	C	378	ENSP00000370867:G378C	ENSP00000370867:G378C	G	+	1	0	TGM3	2256810	1.000000	0.71417	0.183000	0.23137	0.031000	0.12232	9.120000	0.94369	2.548000	0.85928	0.563000	0.77884	GGT	-	NULL		0.567	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	protein_coding	OTTHUMT00000077579.2	G	NM_003245	-		2308810	+1	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	SNP	0.998	T
CEP128	145508	genome.wustl.edu	37	14	81302669	81302669	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr14:81302669G>A	ENST00000555265.1	-	12	1312	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	CEP128_ENST00000281129.3_Missense_Mutation_p.R313C|CEP128_ENST00000216517.6_Missense_Mutation_p.R313C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	313						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R313C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTTGTGTACGCAGTTCTTCT	0.398																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000100629						247.0	208.0	222.0					14																	81302669		2203	4300	6503	CEP128	SO:0001583	missense	0			-	HGNC	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.937C>T	14.37:g.81302669G>A	ENSP00000451162:p.Arg313Cys	Somatic	0	165	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	101	15.13	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R313C	ENST00000555265.1	37	c.937	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344473	0.61073	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	D;D;D	0.83163	-1.69;-1.69;-1.69	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.90184	0.6932	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.87578	0.87;0.998;0.992	D	0.90867	0.4743	10	0.72032	D	0.01	.	17.0005	0.86380	0.0:0.0:1.0:0.0	.	313;194;313	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	313	ENSP00000281129:R313C;ENSP00000451162:R313C;ENSP00000216517:R313C	ENSP00000216517:R313C	R	-	1	0	CEP128	80372422	1.000000	0.71417	0.930000	0.37139	0.378000	0.30076	4.113000	0.57851	2.606000	0.88127	0.655000	0.94253	CGT	-	NULL		0.398	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	protein_coding	OTTHUMT00000413415.1	G	NM_152446	-		81302669	-1	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	SNP	0.993	A
DSCAM	1826	genome.wustl.edu	37	21	42080624	42080624	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr21:42080624G>A	ENST00000400454.1	-	2	594	c.117C>T	c.(115-117)acC>acT	p.T39T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	39	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGTCCCCGTGGTGCTGGCAA	0.562																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						107.0	112.0	110.0					21																	42080624		2025	4175	6200	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.117C>T	21.37:g.42080624G>A		Somatic	0	84	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	O60468	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T39	ENST00000400454.1	37	c.117	CCDS42929.1	21																																																																																			-	smart_Ig_sub2		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		42080624	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	1.000	A
ZNF468	90333	genome.wustl.edu	37	19	53344717	53344717	+	Missense_Mutation	SNP	C	C	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:53344717C>A	ENST00000595646.1	-	4	950	c.830G>T	c.(829-831)gGc>gTc	p.G277V	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.G224V|ZNF468_ENST00000390651.4_Missense_Mutation_p.G224V|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAAGGTCTTGCCACACTCATT	0.418																																																	0								ENSG00000204604						130.0	118.0	122.0					19																	53344717		2203	4300	6503	ZNF468	SO:0001583	missense	0			-	HGNC	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.830G>T	19.37:g.53344717C>A	ENSP00000470381:p.Gly277Val	Somatic	0	139	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G277V	ENST00000595646.1	37	c.830	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	c	18.84	3.709354	0.68615	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.07444	3.19;3.19	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33614	0.0869	M	0.93016	3.37	0.49389	D	0.99978	D	0.89917	1.0	D	0.85130	0.997	T	0.38520	-0.9657	9	0.87932	D	0	.	10.4634	0.44594	0.0:1.0:0.0:0.0	.	277	Q5VIY5	ZN468_HUMAN	V	277;224;224;27	ENSP00000379690:G224V;ENSP00000445669:G224V	ENSP00000243639:G277V	G	-	2	0	ZNF468	58036529	0.690000	0.27699	0.218000	0.23776	0.471000	0.32888	0.278000	0.18753	0.949000	0.37715	0.174000	0.16983	GGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	protein_coding	OTTHUMT00000463098.1	C	NM_001008801	-		53344717	-1	no_errors	ENST00000595646	ensembl	human	known	74_37	missense	SNP	1.000	A
ABCC6	368	genome.wustl.edu	37	16	16244584	16244584	+	Silent	SNP	C	C	G	rs58668703	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:16244584C>G	ENST00000205557.7	-	30	4283	c.4254G>C	c.(4252-4254)cgG>cgC	p.R1418R		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1418	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCTGGGTCTTCCGGAGAAGGG	0.607																																																	0								ENSG00000091262						45.0	39.0	41.0					16																	16244584		2197	4300	6497	ABCC6	SO:0001819	synonymous_variant	0			-	HGNC	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4254G>C	16.37:g.16244584C>G		Somatic	0	50	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	15	53.12	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R1418	ENST00000205557.7	37	c.4254	CCDS10568.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.607	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	C		-		16244584	-1	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	SNP	1.000	G
SAA4	6291	genome.wustl.edu	37	11	18257399	18257399	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:18257399G>A	ENST00000278222.4	-	2	255	c.75C>T	c.(73-75)ttC>ttT	p.F25F	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	25					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GAGCCTCCTTGAAAAACGAAC	0.502																																																	0								ENSG00000148965						132.0	127.0	129.0					11																	18257399		2199	4293	6492	SAA4	SO:0001819	synonymous_variant	0			-	HGNC	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.75C>T	11.37:g.18257399G>A		Somatic	0	63	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	26	43.48	Q6FHJ4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Serum_amyloid_A,superfamily_Actin_cross-linking,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.F25	ENST00000278222.4	37	c.75	CCDS7832.1	11																																																																																			-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.502	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA4	protein_coding	OTTHUMT00000389988.1	G	NM_006512	-		18257399	-1	no_errors	ENST00000278222	ensembl	human	known	74_37	silent	SNP	0.001	A
SOX7	83595	genome.wustl.edu	37	8	10583914	10583914	+	Silent	SNP	G	G	A	rs563553563	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:10583914G>A	ENST00000304501.1	-	2	579	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SOX7_ENST00000553390.1_Silent_p.P219P|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Silent_p.P219P	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	167					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGCAGTGCCGGGGGAGTACT	0.726													G|||	2	0.000399361	0.0	0.0	5008	,	,		13044	0.0		0.0	False		,,,				2504	0.002																0								ENSG00000171056						16.0	17.0	16.0					8																	10583914		2202	4289	6491	SOX7	SO:0001819	synonymous_variant	0			-	HGNC	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.501C>T	8.37:g.10583914G>A		Somatic	0	38	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	B4DKV0|Q53YD0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.P219	ENST00000304501.1	37	c.657	CCDS5977.1	8																																																																																			-	NULL		0.726	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	protein_coding	OTTHUMT00000207131.1	G		-		10583914	-1	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	SNP	0.000	A
GRID2IP	392862	genome.wustl.edu	37	7	6579372	6579372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:6579372G>T	ENST00000457091.2	-	2	560	c.561C>A	c.(559-561)tgC>tgA	p.C187*	GRID2IP_ENST00000452113.1_5'Flank	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	187					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GGAGTGGCCCGCAGGCCTCTC	0.627																																																	0								ENSG00000215045						24.0	24.0	24.0					7																	6579372		692	1591	2283	GRID2IP	SO:0001587	stop_gained	0			-	HGNC		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.561C>A	7.37:g.6579372G>T	ENSP00000397351:p.Cys187*	Somatic	0	64	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.C187*	ENST00000457091.2	37	c.561	CCDS47537.1	7	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732933	0.69189	.	.	ENSG00000215045	ENST00000457091	.	.	.	4.98	-9.96	0.00443	.	3.599360	0.02906	U	0.136056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.0267	0.19658	0.1347:0.3821:0.4016:0.0817	.	.	.	.	X	187	.	ENSP00000397351:C187X	C	-	3	2	GRID2IP	6545897	0.000000	0.05858	0.005000	0.12908	0.874000	0.50279	-3.439000	0.00470	-2.829000	0.00340	-0.157000	0.13467	TGC	-	NULL		0.627	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	protein_coding	OTTHUMT00000340534.1	G	XM_294249	-		6579372	-1	no_errors	ENST00000457091	ensembl	human	putative	74_37	nonsense	SNP	0.006	T
MAP1LC3A	84557	genome.wustl.edu	37	20	33147737	33147737	+	3'UTR	DEL	C	C	-	rs6059915	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr20:33147737delC	ENST00000360668.3	+	0	1162				MAP1LC3A_ENST00000374837.3_3'UTR|MAP1LC3A_ENST00000397709.1_Intron|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha						autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GGGAGTCGGGCGGCCCCGGTC	0.652																																																	0								ENSG00000101460						10.0	12.0	11.0					20																	33147737		2133	4198	6331	MAP1LC3A	SO:0001624	3_prime_UTR_variant	0				HGNC		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.*35C>-	20.37:g.33147737delC		Somatic	0	38	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	E1P5P4|E1P5P5|Q9BXW5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000360668.3	37	NULL	CCDS13238.1	20																																																																																			-	-		0.652	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	protein_coding	OTTHUMT00000078801.2	C	NM_181509			33147737	+1	no_errors	ENST00000476428	ensembl	human	known	74_37	rna	DEL	0.018	-
UGT1A6	54578	genome.wustl.edu	37	2	234651912	234651912	+	Intron	SNP	A	A	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:234651912A>T	ENST00000305139.6	+	2	1000				UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|DNAJB3_ENST00000449667.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ATCTTCCTCCACTTCCACCCT	0.408																																																	0								ENSG00000227802																																			DNAJB3	SO:0001627	intron_variant	0			-	HGNC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23768A>T	2.37:g.234651912A>T		Somatic	0	151	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	55	22.22	A6NKK6|B8K289|Q96TE7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			-	-		0.408	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	protein_coding	OTTHUMT00000130988.1	A	NM_205862	-		234651912	-1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	SNP	1.000	T
A2MP1	3	genome.wustl.edu	37	12	9386053	9386053	+	RNA	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:9386053C>T	ENST00000543404.1	-	0	308					NR_040112.1				alpha-2-macroglobulin pseudogene 1																		CTTCTAGAGTCTTCCCACAGA	0.428																																																	0								ENSG00000256069																																			A2MP1			0			-	HGNC	M24415		12p13.31	2012-05-16	2010-02-24	2010-02-24	ENSG00000256069	ENSG00000256069			8	pseudogene	pseudogene			"""alpha-2-macroglobulin pseudogene"""	A2MP		2478422	Standard	NR_040112		Approved		uc021qum.1		OTTHUMG00000168334		12.37:g.9386053C>T		Somatic	0	67	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000543404.1	37	NULL		12																																																																																			-	-		0.428	A2MP1-004	KNOWN	basic	processed_transcript	A2MP1	pseudogene	OTTHUMT00000399345.2	C	NG_001067	-		9386053	-1	no_errors	ENST00000543404	ensembl	human	known	74_37	rna	SNP	0.000	T
RABL6	55684	genome.wustl.edu	37	9	139733681	139733681	+	Missense_Mutation	SNP	A	A	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:139733681A>C	ENST00000311502.7	+	12	1737	c.1501A>C	c.(1501-1503)Ata>Cta	p.I501L	RABL6_ENST00000371663.4_Missense_Mutation_p.I502L|RABL6_ENST00000371675.3_Missense_Mutation_p.I386L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	501					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAGGTCCTCCATACCAGCTTC	0.672																																																	0								ENSG00000196642						15.0	20.0	19.0					9																	139733681		2019	4169	6188	RABL6	SO:0001583	missense	0			-	HGNC	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1501A>C	9.37:g.139733681A>C	ENSP00000311134:p.Ile501Leu	Somatic	0	107	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	27.69	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.I502L	ENST00000311502.7	37	c.1504	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	7.918	0.737911	0.15574	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.62941	0.01;0.01;0.01;-0.01	3.55	-0.239	0.13050	.	1.367080	0.04577	N	0.394260	T	0.34774	0.0909	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.26775	0.085;0.159;0.099	B;B;B	0.26517	0.039;0.07;0.032	T	0.18967	-1.0320	10	0.10111	T	0.7	-0.5247	6.6754	0.23092	0.6994:0.0:0.3006:0.0	.	295;502;501	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	L	502;501;386;295	ENSP00000360727:I502L;ENSP00000311134:I501L;ENSP00000360740:I386L;ENSP00000408442:I295L	ENSP00000311134:I501L	I	+	1	0	C9orf86	138853502	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.035000	0.13797	-0.238000	0.09724	-1.756000	0.00673	ATA	-	NULL		0.672	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	protein_coding	OTTHUMT00000055141.4	A	NM_024718	-		139733681	+1	no_errors	ENST00000371663	ensembl	human	known	74_37	missense	SNP	0.178	C
ICE2	79664	genome.wustl.edu	37	15	60720639	60720639	+	Missense_Mutation	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr15:60720639T>C	ENST00000261520.4	-	15	3043	c.2809A>G	c.(2809-2811)Aca>Gca	p.T937A	NARG2_ENST00000439632.1_Missense_Mutation_p.T800A	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTTTGTTGTGTTGTGGTATCC	0.373																																																	0								ENSG00000128915						128.0	122.0	124.0					15																	60720639		2203	4300	6503	NARG2	SO:0001583	missense	0			-	HGNC																												ENST00000261520.4:c.2809A>G	15.37:g.60720639T>C	ENSP00000261520:p.Thr937Ala	Somatic	0	171	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	77	23.76		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NARG2_C	p.T937A	ENST00000261520.4	37	c.2809	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	T	6.433	0.447967	0.12223	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.57	-11.1	0.00147	.	1.396580	0.04430	N	0.368982	T	0.08935	0.0221	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.02654	T	1	0.2994	4.4482	0.11607	0.2816:0.4497:0.0941:0.1746	.	937	Q659A1	NARG2_HUMAN	A	937;800	.	ENSP00000261520:T937A	T	-	1	0	NARG2	58507931	0.000000	0.05858	0.001000	0.08648	0.688000	0.40055	-1.401000	0.02502	-2.349000	0.00618	-0.361000	0.07541	ACA	-	NULL		0.373	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	protein_coding	OTTHUMT00000256136.1	T		-		60720639	-1	no_errors	ENST00000261520	ensembl	human	known	74_37	missense	SNP	0.000	C
C15orf26	161502	genome.wustl.edu	37	15	81440868	81440868	+	Silent	SNP	G	G	A	rs371766165		TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr15:81440868G>A	ENST00000286732.4	+	7	983	c.900G>A	c.(898-900)acG>acA	p.T300T		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	300										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GCCTTGACACGCAGTAACACG	0.517																																																	0								ENSG00000156206	G		0,4084		0,0,2042	71.0	70.0	71.0		900	-1.1	0.0	15		71	1,8349		0,1,4174	no	coding-synonymous	C15orf26	NM_173528.2		0,1,6216	AA,AG,GG		0.012,0.0,0.0080		300/302	81440868	1,12433	2042	4175	6217	C15orf26	SO:0001819	synonymous_variant	0			-	HGNC	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.900G>A	15.37:g.81440868G>A		Somatic	0	99	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	61	16.44	Q8N906	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T300	ENST00000286732.4	37	c.900	CCDS42068.1	15																																																																																			-	NULL		0.517	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	C15orf26	protein_coding	OTTHUMT00000417587.1	G	NM_173528	-		81440868	+1	no_errors	ENST00000286732	ensembl	human	known	74_37	silent	SNP	0.000	A
GAS8	2622	genome.wustl.edu	37	16	90109565	90109565	+	Intron	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:90109565G>T	ENST00000268699.4	+	11	1409				URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TCCTGAGCGTGGGGACCCTCA	0.597																																																	0								ENSG00000222019						45.0	38.0	40.0					16																	90109565		2198	4300	6498	URAHP	SO:0001627	intron_variant	0			-	HGNC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1288-39G>T	16.37:g.90109565G>T		Somatic	0	35	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	B2RCT1|B7Z4U1|G3V1L5|Q2M234	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000268699.4	37	NULL	CCDS10992.1	16																																																																																			-	-		0.597	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URAHP	protein_coding	OTTHUMT00000272877.2	G		-		90109565	-1	no_errors	ENST00000517889	ensembl	human	known	74_37	rna	SNP	0.000	T
RCOR2	283248	genome.wustl.edu	37	11	63676504	63676504	+	IGR	SNP	A	A	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:63676504A>G	ENST00000301459.4	-	0	2604				MARK2_ENST00000509502.2_Missense_Mutation_p.N678S|MARK2_ENST00000402010.2_Missense_Mutation_p.N721S|MARK2_ENST00000502399.3_Missense_Mutation_p.N711S|MARK2_ENST00000408948.3_Missense_Mutation_p.N624S|MARK2_ENST00000350490.7_Missense_Mutation_p.N642S|MARK2_ENST00000413835.2_Missense_Mutation_p.N667S|MARK2_ENST00000361128.5_Missense_Mutation_p.N652S|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000425897.2_Missense_Mutation_p.N632S|MARK2_ENST00000513765.2_Missense_Mutation_p.N688S|MARK2_ENST00000377809.4_Missense_Mutation_p.N706S|MARK2_ENST00000508192.1_Missense_Mutation_p.N657S|MARK2_ENST00000377810.3_Missense_Mutation_p.N624S|MARK2_ENST00000315032.8_Missense_Mutation_p.N712S	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGGACGCGAACAGCTGCCAG	0.617																																																	0								ENSG00000072518						76.0	64.0	68.0					11																	63676504		2201	4297	6498	MARK2	SO:0001628	intergenic_variant	0			-	HGNC	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676504A>G		Somatic	0	62	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	Q96FP3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N721S	ENST00000301459.4	37	c.2162	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735088	0.69189	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.43	3.28	0.37604	Kinase-associated KA1 (2);	0.055716	0.64402	D	0.000002	T	0.70263	0.3204	M	0.79805	2.47	0.53688	D	0.999975	D;P;D;D;D;D	0.89917	1.0;0.909;0.969;0.996;1.0;1.0	D;P;D;D;D;D	0.91635	0.999;0.646;0.918;0.98;0.999;0.999	T	0.71550	-0.4559	10	0.62326	D	0.03	.	9.7831	0.40660	0.8456:0.0:0.0:0.1544	.	632;678;642;652;721;657	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	721;712;706;667;624;657;652;642;713;678;688;624;632	ENSP00000385751:N721S;ENSP00000326632:N712S;ENSP00000367040:N706S;ENSP00000389184:N667S;ENSP00000367041:N624S;ENSP00000425765:N657S;ENSP00000355091:N652S;ENSP00000294247:N642S;ENSP00000423974:N678S;ENSP00000421075:N688S;ENSP00000386128:N624S;ENSP00000415494:N632S	ENSP00000326632:N712S	N	+	2	0	MARK2	63433080	1.000000	0.71417	0.662000	0.29724	0.992000	0.81027	7.322000	0.79097	0.827000	0.34685	0.454000	0.30748	AAC	-	superfamily_KA1/Ssp2_C		0.617	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK2	protein_coding	OTTHUMT00000318233.1	A	NM_173587	-		63676504	+1	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	SNP	1.000	G
TRPM2	7226	genome.wustl.edu	37	21	45844781	45844781	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr21:45844781G>A	ENST00000397928.1	+	24	4041	c.3596G>A	c.(3595-3597)cGg>cAg	p.R1199Q	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1249Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1199Q|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1179Q|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1199			R -> W (in dbSNP:rs45611537). {ECO:0000269|Ref.6}.		calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGACGCTGCGGGCCAGCGGC	0.667																																																	0								ENSG00000142185						18.0	19.0	18.0					21																	45844781		2201	4294	6495	TRPM2	SO:0001583	missense	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3596G>A	21.37:g.45844781G>A	ENSP00000381023:p.Arg1199Gln	Somatic	0	65	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.R1199Q	ENST00000397928.1	37	c.3596	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	1.789	-0.480060	0.04383	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.75367	1.02;1.02;1.02;-0.93	3.89	2.94	0.34122	.	0.474813	0.21618	N	0.071691	T	0.47395	0.1443	N	0.05441	-0.05	0.21355	N	0.999711	B;B;B	0.15719	0.006;0.014;0.01	B;B;B	0.06405	0.002;0.001;0.001	T	0.21449	-1.0245	10	0.23891	T	0.37	-20.7634	3.74	0.08526	0.1507:0.0:0.6132:0.2361	.	1249;985;1199	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Q	1199;1199;1179;1249	ENSP00000300482:R1199Q;ENSP00000381023:R1199Q;ENSP00000300481:R1179Q;ENSP00000381026:R1249Q	ENSP00000300481:R1179Q	R	+	2	0	TRPM2	44669209	0.001000	0.12720	0.409000	0.26459	0.073000	0.16967	0.854000	0.27791	0.647000	0.30713	0.543000	0.68304	CGG	-	NULL		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45844781	+1	no_errors	ENST00000300482	ensembl	human	known	74_37	missense	SNP	0.784	A
TRIP12	9320	genome.wustl.edu	37	2	230678613	230678613	+	Silent	SNP	T	T	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:230678613T>A	ENST00000283943.5	-	12	1993	c.1815A>T	c.(1813-1815)ccA>ccT	p.P605P	TRIP12_ENST00000389044.4_Silent_p.P653P|TRIP12_ENST00000389045.3_Silent_p.P308P|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	605					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGGTTAGCAATGGGAGTGAAT	0.323																																																	0								ENSG00000153827						66.0	62.0	63.0					2																	230678613		2203	4300	6503	TRIP12	SO:0001819	synonymous_variant	0			-	HGNC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1815A>T	2.37:g.230678613T>A		Somatic	0	83	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.P605	ENST00000283943.5	37	c.1815	CCDS33391.1	2																																																																																			-	superfamily_ARM-type_fold		0.323	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	protein_coding	OTTHUMT00000331861.3	T	NM_004238	-		230678613	-1	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	SNP	0.370	A
PI4KAP2	375133	genome.wustl.edu	37	22	21846328	21846328	+	RNA	SNP	G	G	T	rs367705001|rs554599392		TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr22:21846328G>T	ENST00000450651.1	-	0	264							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						AGCCAGCGGGGCGGGGGGGCC	0.677																																																	0								ENSG00000183506																																			PI4KAP2			0			-	HGNC			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21846328G>T		Somatic	0	55	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000450651.1	37	NULL		22																																																																																			-	-		0.677	PI4KAP2-005	KNOWN	basic	processed_transcript	PI4KAP2	pseudogene	OTTHUMT00000334908.1	G		-		21846328	-1	no_errors	ENST00000450651	ensembl	human	known	74_37	rna	SNP	0.990	T
USH2A	7399	genome.wustl.edu	37	1	216062283	216062284	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:216062283_216062284insAT	ENST00000307340.3	-	41	8093_8094	c.7707_7708insAT	c.(7705-7710)tatctafs	p.L2570fs	USH2A_ENST00000366943.2_Frame_Shift_Ins_p.L2570fs|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2570	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGCCATGTAGATAAATGTTAT	0.416										HNSCC(13;0.011)																																							0								ENSG00000042781																																			USH2A	SO:0001589	frameshift_variant	0				HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7706_7707dupAT	1.37:g.216062284_216062285dupAT	ENSP00000305941:p.Leu2570fs	Somatic	0	50	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L2569fs	ENST00000307340.3	37	c.7708_7707	CCDS31025.1	1																																																																																			-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.416	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	-	NM_007123			216062284	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	AT
ROBO2	6092	genome.wustl.edu	37	3	77638020	77638020	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:77638020G>A	ENST00000461745.1	+	17	3519	c.2619G>A	c.(2617-2619)ctG>ctA	p.L873L	ROBO2_ENST00000487694.3_Silent_p.L889L|ROBO2_ENST00000332191.8_Silent_p.L873L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	873					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGGTAATTCTGATGGGTTTTA	0.408																																																	0								ENSG00000185008						180.0	170.0	173.0					3																	77638020		1891	4124	6015	ROBO2	SO:0001819	synonymous_variant	0			-	HGNC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2619G>A	3.37:g.77638020G>A		Somatic	0	204	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	168	12.95	O43608|Q19AB4|Q19AB5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L873	ENST00000461745.1	37	c.2619	CCDS43109.1	3																																																																																			-	NULL		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000352600.2	G	XM_031246	-		77638020	+1	no_errors	ENST00000461745	ensembl	human	known	74_37	silent	SNP	1.000	A
ZDHHC11	79844	genome.wustl.edu	37	5	711036	711037	+	Intron	INS	-	-	GA			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr5:711036_711037insGA	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCAATGCTATGCTCCCATTTC	0.505																																																	0								ENSG00000206077																																			ZDHHC11B	SO:0001627	intron_variant	0				HGNC	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-37->TC	5.37:g.711036_711037insGA		Somatic	0	53	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q6UWR9	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			-	-		0.505	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	protein_coding		-	NM_024786			711037	-1	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	INS	0.000:0.006	GA
PRPF4B	8899	genome.wustl.edu	37	6	4062343	4062343	+	IGR	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr6:4062343G>T	ENST00000337659.6	+	0	4415				PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B						mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AATATTGTCAGCTTTCAGTGT	0.299																																																	0								ENSG00000112739																																			PRPF4B	SO:0001628	intergenic_variant	0			-	HGNC	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157		6.37:g.4062343G>T		Somatic	0	297	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	108	32.50	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000337659.6	37	NULL	CCDS4488.1	6																																																																																			-	-		0.299	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	protein_coding	OTTHUMT00000314018.2	G		-		4062343	+1	no_errors	ENST00000461612	ensembl	human	known	74_37	rna	SNP	1.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10194076	10194076	+	5'UTR	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:10194076C>T	ENST00000355819.1	+	0	308				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TGACTATAAACGCAGCCCCTG	0.418																																																	0								ENSG00000197992																																			CLEC9A	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.-306C>T	12.37:g.10194076C>T		Somatic	0	78	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	B0ZBM2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			-	-		0.418	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	protein_coding	OTTHUMT00000399564.1	C	NM_207345	-		10194076	+1	no_errors	ENST00000544751	ensembl	human	known	74_37	rna	SNP	0.995	T
ASTN1	460	genome.wustl.edu	37	1	176998830	176998830	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:176998830C>T	ENST00000367654.3	-	5	1271	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000367657.3_Missense_Mutation_p.E354K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E354K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E354K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	354					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGTCGTTTTCTGCCTCTGTG	0.502																																																	0								ENSG00000152092						67.0	62.0	64.0					1																	176998830		2203	4300	6503	ASTN1	SO:0001583	missense	0			-	HGNC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1060G>A	1.37:g.176998830C>T	ENSP00000356626:p.Glu354Lys	Somatic	0	138	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.E354K	ENST00000367654.3	37	c.1060		1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127476	0.77549	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.83;2.83;2.42	5.03	5.03	0.67393	.	0.047110	0.85682	D	0.000000	T	0.13415	0.0325	N	0.14661	0.345	0.48511	D	0.999667	B;B;B	0.23185	0.081;0.058;0.058	B;B;B	0.23419	0.046;0.022;0.022	T	0.09207	-1.0685	10	0.52906	T	0.07	-22.5292	18.3563	0.90358	0.0:1.0:0.0:0.0	.	354;354;354	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	354	ENSP00000356629:E354K;ENSP00000354536:E354K;ENSP00000356626:E354K;ENSP00000395041:E354K	ENSP00000354536:E354K	E	-	1	0	ASTN1	175265453	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.061000	0.76699	2.469000	0.83416	0.650000	0.86243	GAA	-	NULL		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		C	NM_004319	-		176998830	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	SNP	1.000	T
F8	2157	genome.wustl.edu	37	X	154128144	154128144	+	Silent	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chrX:154128144G>T	ENST00000360256.4	-	21	6470	c.6270C>A	c.(6268-6270)atC>atA	p.I2090I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2090	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTAACCTTGATCCAAGAAA	0.408																																																	0								ENSG00000185010						90.0	79.0	83.0					X																	154128144		2203	4300	6503	F8	SO:0001819	synonymous_variant	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6270C>A	X.37:g.154128144G>T		Somatic	0	104	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	Q14286|Q5HY69	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I2090	ENST00000360256.4	37	c.6270	CCDS35457.1	X																																																																																			-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	G		-		154128144	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	silent	SNP	1.000	T
CTNND1	1500	genome.wustl.edu	37	11	57576833	57576833	+	Missense_Mutation	SNP	C	C	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:57576833C>G	ENST00000399050.4	+	15	2866	c.2330C>G	c.(2329-2331)tCt>tGt	p.S777C	CTNND1_ENST00000529919.1_Missense_Mutation_p.S777C|CTNND1_ENST00000361332.4_Missense_Mutation_p.S771C|CTNND1_ENST00000532463.1_Missense_Mutation_p.S670C|CTNND1_ENST00000361391.6_Missense_Mutation_p.S771C|CTNND1_ENST00000529986.1_Missense_Mutation_p.S670C|CTNND1_ENST00000532844.1_Missense_Mutation_p.S723C|CTNND1_ENST00000528621.1_Missense_Mutation_p.S717C|CTNND1_ENST00000360682.6_Missense_Mutation_p.S777C|CTNND1_ENST00000528232.1_Missense_Mutation_p.S676C|CTNND1_ENST00000399039.4_Missense_Mutation_p.S777C|CTNND1_ENST00000532649.1_Missense_Mutation_p.S717C|CTNND1_ENST00000525902.1_Missense_Mutation_p.S454C|CTNND1_ENST00000529873.1_Missense_Mutation_p.S717C|CTNND1_ENST00000361796.4_Missense_Mutation_p.S771C|CTNND1_ENST00000428599.2_Missense_Mutation_p.S771C|CTNND1_ENST00000530094.1_Missense_Mutation_p.S670C|CTNND1_ENST00000534579.1_Missense_Mutation_p.S717C|CTNND1_ENST00000533667.1_Missense_Mutation_p.S448C|CTNND1_ENST00000527467.1_Missense_Mutation_p.S454C|CTNND1_ENST00000530748.1_Missense_Mutation_p.S723C|CTNND1_ENST00000532245.1_Missense_Mutation_p.S670C|CTNND1_ENST00000358694.6_Missense_Mutation_p.S771C|CTNND1_ENST00000529526.1_Missense_Mutation_p.S717C|CTNND1_ENST00000526772.1_Missense_Mutation_p.S448C|CTNND1_ENST00000524630.1_Missense_Mutation_p.S771C|CTNND1_ENST00000526357.1_Missense_Mutation_p.S717C|CTNND1_ENST00000415361.2_Missense_Mutation_p.S676C|CTNND1_ENST00000531014.1_Missense_Mutation_p.S448C|CTNND1_ENST00000526938.1_Missense_Mutation_p.S777C|CTNND1_ENST00000532787.1_Missense_Mutation_p.S670C|CTNND1_ENST00000426142.2_Missense_Mutation_p.S670C	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	777					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTGTCATCTCTATTTTGAAC	0.428																																																	0								ENSG00000198561						97.0	97.0	97.0					11																	57576833		1882	4103	5985	CTNND1	SO:0001583	missense	0			-	HGNC	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2330C>G	11.37:g.57576833C>G	ENSP00000382004:p.Ser777Cys	Somatic	0	113	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	41	34.92	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S777C	ENST00000399050.4	37	c.2330	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432779	0.62844	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.120255	0.64402	D	0.000017	T	0.48537	0.1505	L	0.49126	1.545	0.49389	D	0.999788	B;B;B;B;B;B;B;B;B	0.31611	0.119;0.119;0.073;0.119;0.119;0.119;0.331;0.119;0.073	B;B;B;B;B;B;B;B;B	0.38056	0.049;0.049;0.022;0.049;0.049;0.049;0.264;0.049;0.022	T	0.46133	-0.9213	10	0.48119	T	0.1	-1.0894	14.9832	0.71327	0.0:0.8577:0.1423:0.0	.	777;771;777;670;717;717;771;777;777	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	C	771;777;777;777;771;717;670;777;771;771;670;670;771;670;448;717;717;723;771;454;676;448;448;717;454;723;717;670;676;670;717;777	ENSP00000436543:S771C;ENSP00000434808:S777C;ENSP00000381996:S777C;ENSP00000353902:S777C;ENSP00000354907:S771C;ENSP00000436323:S717C;ENSP00000409930:S670C;ENSP00000382004:S777C;ENSP00000354785:S771C;ENSP00000354823:S771C;ENSP00000432075:S670C;ENSP00000437156:S670C;ENSP00000351527:S771C;ENSP00000434949:S670C;ENSP00000437051:S448C;ENSP00000435379:S717C;ENSP00000432243:S717C;ENSP00000436744:S723C;ENSP00000413586:S771C;ENSP00000434900:S454C;ENSP00000435266:S676C;ENSP00000432623:S448C;ENSP00000433158:S448C;ENSP00000435494:S717C;ENSP00000434672:S454C;ENSP00000433276:S723C;ENSP00000433334:S717C;ENSP00000437327:S670C;ENSP00000403518:S676C;ENSP00000434017:S670C;ENSP00000435789:S717C;ENSP00000432041:S777C	ENSP00000351527:S771C	S	+	2	0	CTNND1	57333409	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.696000	0.68287	2.692000	0.91855	0.655000	0.94253	TCT	-	superfamily_ARM-type_fold		0.428	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	protein_coding	OTTHUMT00000393944.1	C	NM_001331	-		57576833	+1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	SNP	0.998	G
PPP1R15B	84919	genome.wustl.edu	37	1	204378937	204378937	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:204378937G>T	ENST00000367188.4	-	1	1982	c.1603C>A	c.(1603-1605)Cat>Aat	p.H535N	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	535					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCAGAACTATGCTCAGGGGTC	0.473																																																	0								ENSG00000158615						52.0	53.0	53.0					1																	204378937		2203	4300	6503	PPP1R15B	SO:0001583	missense	0			-	HGNC	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1603C>A	1.37:g.204378937G>T	ENSP00000356156:p.His535Asn	Somatic	0	70	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.H535N	ENST00000367188.4	37	c.1603	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	G	4.984	0.182700	0.09495	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.23348	1.91	4.74	0.682	0.17992	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	2.838560	0.00919	N	0.002571	T	0.19927	0.0479	L	0.51422	1.61	0.09310	N	1	P	0.38677	0.642	B	0.25614	0.062	T	0.17961	-1.0352	10	0.32370	T	0.25	3.4789	4.9209	0.13869	0.2622:0.154:0.5838:0.0	.	535	Q5SWA1	PR15B_HUMAN	N	535;445	ENSP00000356156:H535N	ENSP00000356156:H535N	H	-	1	0	PPP1R15B	202645560	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	0.149000	0.16243	-0.029000	0.13827	0.655000	0.94253	CAT	-	pfam_Prot_Pase1_reg-su15A/B_C		0.473	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	protein_coding	OTTHUMT00000087974.1	G	NM_032833	-		204378937	-1	no_errors	ENST00000367188	ensembl	human	known	74_37	missense	SNP	0.001	T
LRRC8A	56262	genome.wustl.edu	37	9	131670725	131670725	+	Silent	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:131670725C>T	ENST00000259324.5	+	3	1805	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	LRRC8A_ENST00000372599.3_Silent_p.L428L|LRRC8A_ENST00000372600.4_Silent_p.L428L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	428					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCAGGACAAGCTGGAGCTGCA	0.597																																																	0								ENSG00000136802						41.0	39.0	40.0					9																	131670725		2203	4300	6503	LRRC8A	SO:0001819	synonymous_variant	0			-	HGNC	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1282C>T	9.37:g.131670725C>T		Somatic	0	55	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L428	ENST00000259324.5	37	c.1282	CCDS35155.1	9																																																																																			-	NULL		0.597	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	C	NM_019594	-		131670725	+1	no_errors	ENST00000259324	ensembl	human	known	74_37	silent	SNP	1.000	T
TNFSF14	8740	genome.wustl.edu	37	19	6669985	6669985	+	Silent	SNP	C	C	T	rs377255029		TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:6669985C>T	ENST00000599359.1	-	2	477	c.96G>A	c.(94-96)tcG>tcA	p.S32S	TNFSF14_ENST00000326176.9_Silent_p.S32S|TNFSF14_ENST00000245912.3_Silent_p.S32S			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	32			S -> L (in dbSNP:rs2291667).		apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACACTGCACGACTGTCTCC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15943	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000125735	C	,	0,4406		0,0,2203	133.0	114.0	121.0		96,96	1.0	0.3	19		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TNFSF14	NM_003807.3,NM_172014.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	32/241,32/205	6669985	1,13005	2203	4300	6503	TNFSF14	SO:0001819	synonymous_variant	0			-	HGNC	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.96G>A	19.37:g.6669985C>T		Somatic	0	85	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	58	21.62	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.S32	ENST00000599359.1	37	c.96	CCDS12171.1	19																																																																																			-	NULL		0.637	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF14	protein_coding	OTTHUMT00000457863.1	C		-		6669985	-1	no_errors	ENST00000599359	ensembl	human	known	74_37	silent	SNP	0.296	T
HAS1	3036	genome.wustl.edu	37	19	52217143	52217143	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:52217143G>A	ENST00000222115.1	-	5	1308	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	HAS1_ENST00000540069.2_Missense_Mutation_p.A424V|HAS1_ENST00000601714.1_Missense_Mutation_p.A432V	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	425					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.A425V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGCGGCCCGCGTAGAACAG	0.706																																					NSCLC(132;636 2450 45807 47979)												1	Substitution - Missense(1)	large_intestine(1)						ENSG00000105509						29.0	30.0	29.0					19																	52217143		2190	4296	6486	HAS1	SO:0001583	missense	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1274C>T	19.37:g.52217143G>A	ENSP00000222115:p.Ala425Val	Somatic	0	77	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q14470|Q9NS49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A432V	ENST00000222115.1	37	c.1295	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	g	8.554	0.876206	0.17395	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.58797	0.31;0.31	3.19	3.19	0.36642	.	0.221815	0.38111	U	0.001817	T	0.37945	0.1022	L	0.27053	0.805	0.26824	N	0.968739	B;B;B	0.28900	0.227;0.146;0.146	B;B;B	0.19148	0.024;0.011;0.011	T	0.22695	-1.0209	10	0.36615	T	0.2	-18.1561	8.547	0.33429	0.0:0.2393:0.7606:0.0	.	424;425;424	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	V	424;425	ENSP00000445021:A424V;ENSP00000222115:A425V	ENSP00000222115:A425V	A	-	2	0	HAS1	56908955	1.000000	0.71417	0.987000	0.45799	0.204000	0.24138	3.897000	0.56273	1.812000	0.52913	0.165000	0.16767	GCG	-	NULL		0.706	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217143	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	SNP	0.872	A
STMND1	401236	genome.wustl.edu	37	6	17130834	17130834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr6:17130834G>T	ENST00000536551.1	+	5	553	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_001190766.1	NP_001177695.1	H3BQB6	STMD1_HUMAN	stathmin domain containing 1	185	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)												GACTAAAGAAGAAGAAATAAG	0.393																																																	0								ENSG00000230873																																			STMND1	SO:0001587	stop_gained	0			-	HGNC	AK026805	CCDS58997.1	6p22.3	2012-12-11			ENSG00000230873	ENSG00000230873			44668	protein-coding gene	gene with protein product							Standard	NM_001190766		Approved	FLJ23152	uc021ymc.1	H3BQB6	OTTHUMG00000014304	ENST00000536551.1:c.553G>T	6.37:g.17130834G>T	ENSP00000455698:p.Glu185*	Somatic	0	49	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Stathmin_fam,superfamily_Stathmin_fam	p.E185*	ENST00000536551.1	37	c.553	CCDS58997.1	6																																																																																			-	pfam_Stathmin_fam,superfamily_Stathmin_fam		0.393	STMND1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMND1	protein_coding		G	NM_001190766	-		17130834	+1	no_errors	ENST00000536551	ensembl	human	known	74_37	nonsense	SNP	1.000	T
PLEKHG6	55200	genome.wustl.edu	37	12	6437022	6437022	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:6437022G>A	ENST00000396988.3	+	15	2503	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R726Q|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R288Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R758Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	758						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGGAGCCCCGGGACAGCAGG	0.662																																																	0								ENSG00000008323						9.0	12.0	11.0					12																	6437022		2193	4280	6473	PLEKHG6	SO:0001583	missense	0			-	HGNC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2273G>A	12.37:g.6437022G>A	ENSP00000380185:p.Arg758Gln	Somatic	0	82	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R758Q	ENST00000396988.3	37	c.2273	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	1.161	-0.643857	0.03531	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.62941	0.11;0.11;-0.01	4.74	1.91	0.25777	.	0.711693	0.12674	N	0.448526	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20472	-1.0274	10	0.45353	T	0.12	-0.2527	4.8245	0.13408	0.193:0.1763:0.6307:0.0	.	726;758	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	Q	758;758;726;288	ENSP00000011684:R758Q;ENSP00000380185:R758Q;ENSP00000393194:R726Q	ENSP00000011684:R758Q	R	+	2	0	PLEKHG6	6307283	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.027000	0.13621	0.232000	0.21100	-0.263000	0.10527	CGG	-	NULL		0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	protein_coding	OTTHUMT00000399031.1	G	NM_018173	-		6437022	+1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	SNP	0.000	A
CFAP45	25790	genome.wustl.edu	37	1	159860314	159860314	+	Silent	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr1:159860314T>C	ENST00000368099.4	-	3	292	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGATGGTCTCTGGCTTGCGAT	0.552																																																	0								ENSG00000213085						172.0	155.0	161.0					1																	159860314		2203	4300	6503	CCDC19	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000368099.4:c.228A>G	1.37:g.159860314T>C		Somatic	0	140	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P76	ENST00000368099.4	37	c.228	CCDS30914.1	1																																																																																			-	NULL		0.552	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	T		-		159860314	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	silent	SNP	0.001	C
SYNJ2	8871	genome.wustl.edu	37	6	158515005	158515005	+	Intron	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr6:158515005G>A	ENST00000355585.4	+	26	3819				SYNJ2_ENST00000367121.3_Missense_Mutation_p.R1277K|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCAGCCCAAAGACTGGCATCT	0.473																																																	0								ENSG00000078269						223.0	196.0	204.0					6																	158515005		876	1991	2867	SYNJ2	SO:0001627	intron_variant	0			-	HGNC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3744+869G>A	6.37:g.158515005G>A		Somatic	1	207	0.48		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	65	31.58	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.R1277K	ENST00000355585.4	37	c.3830	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	9.403	1.078608	0.20227	.	.	ENSG00000078269	ENST00000367121	D	0.93859	-3.3	5.64	4.76	0.60689	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.64841	-0.6312	8	0.02654	T	1	.	9.4984	0.39001	0.0937:0.0:0.9063:0.0	.	1277	O15056-3	.	K	1277	ENSP00000356088:R1277K	ENSP00000356088:R1277K	R	+	2	0	SYNJ2	158434993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.878000	0.48515	0.960000	0.38005	0.459000	0.35465	AGA	-	NULL		0.473	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	protein_coding	OTTHUMT00000042858.2	G		-		158515005	+1	no_errors	ENST00000367121	ensembl	human	known	74_37	missense	SNP	1.000	A
GSTZ1	2954	genome.wustl.edu	37	14	77795516	77795516	+	Silent	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr14:77795516C>T	ENST00000556627.1	+	5	443	c.312C>T	c.(310-312)gcC>gcT	p.A104A	GSTZ1_ENST00000553586.1_Silent_p.A132A|GSTZ1_ENST00000393734.1_Silent_p.A76A|GSTZ1_ENST00000554279.1_Silent_p.A117A|GSTZ1_ENST00000349555.3_Silent_p.A89A|GSTZ1_ENST00000216465.5_Silent_p.A131A|GSTZ1_ENST00000361389.4_Silent_p.A76A|GSTZ1_ENST00000557053.1_Silent_p.A34A|GSTZ1_ENST00000557639.1_Silent_p.A76A			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	131	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TGACCTGGGCCCAGAACGCCA	0.592																																																	0								ENSG00000100577						137.0	114.0	122.0					14																	77795516		2203	4300	6503	GSTZ1	SO:0001819	synonymous_variant	0			-	HGNC	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.312C>T	14.37:g.77795516C>T		Somatic	0	87	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	52	20.00	A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom	p.A131	ENST00000556627.1	37	c.393		14																																																																																			-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom		0.592	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	GSTZ1	protein_coding	OTTHUMT00000414090.1	C	NM_145870	-		77795516	+1	no_errors	ENST00000216465	ensembl	human	known	74_37	silent	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118375819	118375819	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:118375819C>T	ENST00000389506.5	+	27	9203	c.9203C>T	c.(9202-9204)cCa>cTa	p.P3068L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3030L|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3071L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3068					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGACCACTCCACCCCACCTG	0.483																																																	0								ENSG00000118058						99.0	98.0	98.0					11																	118375819		2200	4295	6495	KMT2A	SO:0001583	missense	0			-	HGNC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9203C>T	11.37:g.118375819C>T	ENSP00000374157:p.Pro3068Leu	Somatic	0	68	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P3068L	ENST00000389506.5	37	c.9203	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728226	0.48833	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85556	-1.99;-2.0;-1.95	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.40543	1.245	0.80722	D	1	P;P	0.42409	0.779;0.779	B;B	0.32149	0.141;0.141	T	0.82600	-0.0377	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3071;3068	E9PQG7;Q03164	.;MLL1_HUMAN	L	3071;3068;3030;1978	ENSP00000436786:P3071L;ENSP00000374157:P3068L;ENSP00000346516:P3030L	ENSP00000346516:P3030L	P	+	2	0	MLL	117881029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.922000	0.70036	2.894000	0.99253	0.591000	0.81541	CCA	-	pirsf_MeTrfase_trithorax		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	protein_coding	OTTHUMT00000399085.2	C	NM_005933	-		118375819	+1	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	SNP	1.000	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19297416	19297416	+	Missense_Mutation	SNP	C	C	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr8:19297416C>G	ENST00000454498.2	-	6	1891	c.878G>C	c.(877-879)aGa>aCa	p.R293T	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R293T|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	293					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGATGGACTCTCCCATCCTG	0.413																																																	0								ENSG00000147408						147.0	122.0	130.0					8																	19297416		2203	4300	6503	CSGALNACT1	SO:0001583	missense	0			-	HGNC	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.878G>C	8.37:g.19297416C>G	ENSP00000411816:p.Arg293Thr	Somatic	0	83	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	50	23.08	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Chond_GalNAc	p.R293T	ENST00000454498.2	37	c.878	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598625	0.87055	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.70114	-0.4961	10	0.52906	T	0.07	-30.4119	17.3485	0.87316	0.0:1.0:0.0:0.0	.	293	Q8TDX6	CGAT1_HUMAN	T	293	ENSP00000411816:R293T;ENSP00000330805:R293T;ENSP00000310891:R293T;ENSP00000429809:R293T;ENSP00000442155:R293T	ENSP00000310891:R293T	R	-	2	0	CSGALNACT1	19341696	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	4.569000	0.60865	2.697000	0.92050	0.655000	0.94253	AGA	-	pfam_Chond_GalNAc		0.413	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	protein_coding	OTTHUMT00000375204.1	C	NM_018371	-		19297416	-1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	SNP	1.000	G
OR51Q1	390061	genome.wustl.edu	37	11	5444200	5444200	+	Missense_Mutation	SNP	T	T	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr11:5444200T>A	ENST00000300778.4	+	1	860	c.770T>A	c.(769-771)aTg>aAg	p.M257K	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACATTCCCATGGTTGGTGTA	0.527																																																	0								ENSG00000167360						135.0	111.0	119.0					11																	5444200		2201	4297	6498	OR51Q1	SO:0001583	missense	0			-	HGNC	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.770T>A	11.37:g.5444200T>A	ENSP00000300778:p.Met257Lys	Somatic	0	64	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	B2RNN1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M257K	ENST00000300778.4	37	c.770	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219598	0.58560	.	.	ENSG00000167360	ENST00000300778	T	0.37235	1.21	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.178939	0.40908	D	0.000993	T	0.53642	0.1809	M	0.81802	2.56	0.34107	D	0.662568	D	0.53151	0.958	P	0.57244	0.816	T	0.70088	-0.4968	10	0.66056	D	0.02	.	9.0536	0.36392	0.0:0.0865:0.0:0.9135	.	257	Q8NH59	O51Q1_HUMAN	K	257	ENSP00000300778:M257K	ENSP00000300778:M257K	M	+	2	0	OR51Q1	5400776	0.000000	0.05858	1.000000	0.80357	0.506000	0.33950	0.380000	0.20602	2.133000	0.65898	0.311000	0.20440	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	protein_coding	OTTHUMT00000143373.1	T	NM_001004757	-		5444200	+1	no_errors	ENST00000300778	ensembl	human	known	74_37	missense	SNP	0.878	A
PNPLA7	375775	genome.wustl.edu	37	9	140437933	140437933	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:140437933T>A	ENST00000277531.4	-	5	568	c.382A>T	c.(382-384)Aag>Tag	p.K128*	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Nonsense_Mutation_p.K153*	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	128					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGAGAATTCTTCACGTCAAAC	0.612																																																	0								ENSG00000130653						60.0	63.0	62.0					9																	140437933		2203	4300	6503	PNPLA7	SO:0001587	stop_gained	0			-	HGNC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.382A>T	9.37:g.140437933T>A	ENSP00000277531:p.Lys128*	Somatic	0	93	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.K153*	ENST00000277531.4	37	c.457	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	T	38	6.966459	0.97967	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	.	.	.	4.19	3.0	0.34707	.	0.245916	0.41194	D	0.000925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6334	10.0367	0.42133	0.0:0.0:0.1702:0.8298	.	.	.	.	X	128;153;128;119;153	.	ENSP00000277531:K128X	K	-	1	0	PNPLA7	139557754	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	1.453000	0.35167	0.551000	0.29008	0.460000	0.39030	AAG	-	NULL		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	T	NM_152286	-		140437933	-1	no_errors	ENST00000406427	ensembl	human	known	74_37	nonsense	SNP	1.000	A
IQCG	84223	genome.wustl.edu	37	3	197665423	197665423	+	Missense_Mutation	SNP	C	C	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:197665423C>G	ENST00000265239.6	-	5	935	c.511G>C	c.(511-513)Gat>Cat	p.D171H	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000455191.1_Missense_Mutation_p.D171H|IQCG_ENST00000453254.1_Missense_Mutation_p.D171H	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	171						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CCTTACCTATCAATCTGAATT	0.448																																																	0								ENSG00000114473						203.0	193.0	196.0					3																	197665423		2203	4300	6503	IQCG	SO:0001583	missense	0			-	HGNC	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.511G>C	3.37:g.197665423C>G	ENSP00000265239:p.Asp171His	Somatic	0	112	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	42	26.32	Q9BST2|Q9HAG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.D171H	ENST00000265239.6	37	c.511	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587228	0.66105	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.76968	0.16;0.16;0.89;-1.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88366	0.6417	M	0.81341	2.54	0.46028	D	0.998829	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88353	0.2982	10	0.51188	T	0.08	.	16.5383	0.84377	0.0:1.0:0.0:0.0	.	171;171	C9JKX8;Q9H095	.;IQCG_HUMAN	H	171;171;171;152	ENSP00000265239:D171H;ENSP00000407736:D171H;ENSP00000389897:D171H;ENSP00000406411:D152H	ENSP00000265239:D171H	D	-	1	0	IQCG	199149820	0.940000	0.31905	0.745000	0.31077	0.538000	0.34931	3.805000	0.55575	2.759000	0.94783	0.558000	0.71614	GAT	-	NULL		0.448	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	protein_coding	OTTHUMT00000339730.1	C	NM_032263	-		197665423	-1	no_errors	ENST00000265239	ensembl	human	known	74_37	missense	SNP	0.956	G
PARN	5073	genome.wustl.edu	37	16	14711476	14711476	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:14711476C>T	ENST00000437198.2	-	6	500	c.359G>A	c.(358-360)gGa>gAa	p.G120E	PARN_ENST00000566021.1_Intron|PARN_ENST00000420015.2_Missense_Mutation_p.G74E|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.G59E	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	120					female gamete generation (GO:0007292)|gene expression (GO:0010467)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.G120E(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AAAATCAAATCCCTGGCTTGC	0.368																																																	2	Substitution - Missense(2)	large_intestine(2)						ENSG00000140694						68.0	65.0	66.0					16																	14711476		1824	4084	5908	PARN	SO:0001583	missense	0			-	HGNC	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.359G>A	16.37:g.14711476C>T	ENSP00000387911:p.Gly120Glu	Somatic	0	161	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	54	46.53	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.G120E	ENST00000437198.2	37	c.359	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.091526	0.94149	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.95	5.95	0.96441	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.84948	2.725	0.80722	D	1	D;D	0.64830	0.991;0.994	D;D	0.64595	0.927;0.919	T	0.64715	-0.6342	10	0.72032	D	0.01	-20.7403	19.3813	0.94536	0.0:1.0:0.0:0.0	.	74;120	B4DWR4;O95453	.;PARN_HUMAN	E	120;59;74;103	ENSP00000387911:G120E;ENSP00000345456:G59E;ENSP00000410525:G74E;ENSP00000445659:G103E	ENSP00000345456:G59E	G	-	2	0	PARN	14618977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.730000	0.74780	2.824000	0.97209	0.655000	0.94253	GGA	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.368	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	protein_coding	OTTHUMT00000422383.1	C	NM_002582	-		14711476	-1	no_errors	ENST00000437198	ensembl	human	known	74_37	missense	SNP	1.000	T
GPRIN1	114787	genome.wustl.edu	37	5	176026122	176026134	+	Frame_Shift_Del	DEL	CAAAGACCCAGGA	CAAAGACCCAGGA	-	rs3797464|rs200519605|rs386695335|rs550332435|rs142779818|rs371149640|rs199714570|rs373697082	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	CAAAGACCCAGGA	CAAAGACCCAGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr5:176026122_176026134delCAAAGACCCAGGA	ENST00000303991.4	-	2	879_891	c.702_714delTCCTGGGTCTTTG	c.(700-714)gatcctgggtctttgfs	p.DPGSL234fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	234				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTTTCTCAAAGACCCAGGATCCTCCTTCC	0.488																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000169258			721,3495		76,569,1463						-0.3	0.0		dbSNP_107	106	1092,7070		103,886,3092	no	frameshift	GPRIN1	NM_052899.2		179,1455,4555	A1A1,A1R,RR		13.3791,17.1015,14.647				1813,10565				GPRIN1	SO:0001589	frameshift_variant	0				HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.702_714delTCCTGGGTCTTTG	5.37:g.176026122_176026134delCAAAGACCCAGGA	ENSP00000305839:p.Asp234fs	Somatic	NA	NA	NA		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.D234fs	ENST00000303991.4	37	c.714_702	CCDS4405.1	5																																																																																			-	NULL		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	CAAAGACCCAGGA	NM_052899			176026134	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.000:0.001:0.004:0.001:0.000:0.000:0.101:0.106:0.114:0.091:0.008	-
ZNF765	91661	genome.wustl.edu	37	19	53911520	53911520	+	Missense_Mutation	SNP	T	T	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr19:53911520T>G	ENST00000396408.3	+	4	829	c.712T>G	c.(712-714)Tta>Gta	p.L238V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTAATCCATTTAGGAGAGAA	0.383																																																	0								ENSG00000196417						79.0	79.0	79.0					19																	53911520		2200	4300	6500	ZNF765	SO:0001583	missense	0			-	HGNC	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.712T>G	19.37:g.53911520T>G	ENSP00000379689:p.Leu238Val	Somatic	0	145	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	52	42.22	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L238V	ENST00000396408.3	37	c.712	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084133	0.36758	.	.	ENSG00000196417	ENST00000396408	T	0.18657	2.2	0.439	0.439	0.16567	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21590	0.0520	L	0.31420	0.93	0.09310	N	0.999998	P	0.49862	0.929	P	0.56648	0.803	T	0.12426	-1.0548	8	.	.	.	.	3.4975	0.07661	0.5978:0.0:0.0:0.4022	.	238	Q7L2R6	ZN765_HUMAN	V	238	ENSP00000379689:L238V	.	L	+	1	2	ZNF765	58603332	.	.	0.010000	0.14722	0.239000	0.25481	.	.	0.376000	0.24707	0.147000	0.16070	TTA	-	pfscan_Znf_C2H2		0.383	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	protein_coding	OTTHUMT00000371603.1	T	NM_138372	-		53911520	+1	no_errors	ENST00000396408	ensembl	human	known	74_37	missense	SNP	0.561	G
DNAH9	1770	genome.wustl.edu	37	17	11583113	11583113	+	Silent	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:11583113C>T	ENST00000262442.4	+	18	3461	c.3393C>T	c.(3391-3393)agC>agT	p.S1131S	DNAH9_ENST00000454412.2_Silent_p.S1131S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1131	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)	p.S1131S(1)		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)		AGAGTGAGAGCGGCTTACTCA	0.433																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000007174						139.0	138.0	138.0					17																	11583113		2203	4300	6503	DNAH9	SO:0001819	synonymous_variant	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.3393C>T	17.37:g.11583113C>T		Somatic	0	123	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	A2VCQ8|O15064|O95494|Q9NQ28	Silent	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.S1131	ENST00000262442.4	37	c.3393	CCDS11160.1	17																																																																																			-	NULL		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372	-		11583113	+1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	SNP	0.001	T
IFI35	3430	genome.wustl.edu	37	17	41164274	41164274	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:41164274G>A	ENST00000415816.2	+	2	323	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	IFI35_ENST00000536969.1_3'UTR|IFI35_ENST00000438323.2_Missense_Mutation_p.G34R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	34					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AAAGGAGCTCGGGGACTCCCC	0.592																																																	0								ENSG00000068079						36.0	40.0	39.0					17																	41164274		2183	4282	6465	IFI35	SO:0001583	missense	0			-	HGNC	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.100G>A	17.37:g.41164274G>A	ENSP00000394579:p.Gly34Arg	Somatic	0	36	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N	p.G34R	ENST00000415816.2	37	c.100		17	.	.	.	.	.	.	.	.	.	.	g	4.715	0.132966	0.09032	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.40756	1.03;1.02	4.9	-1.53	0.08611	Interferon induced 35kDa, N-terminal (1);	1.583810	0.02969	N	0.144136	T	0.19604	0.0471	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.14252	T	0.57	.	4.534	0.12019	0.5919:0.0:0.2676:0.1406	.	34	P80217	IN35_HUMAN	R	34	ENSP00000394579:G34R;ENSP00000395590:G34R	ENSP00000394579:G34R	G	+	1	0	IFI35	38417800	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.808000	0.04515	-0.101000	0.12219	-1.073000	0.02249	GGG	-	pfam_Nmi/IFP35_N		0.592	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	protein_coding	OTTHUMT00000395851.1	G	NM_005533	-		41164274	+1	no_errors	ENST00000438323	ensembl	human	known	74_37	missense	SNP	0.000	A
CXorf66	347487	genome.wustl.edu	37	X	139038107	139038107	+	Missense_Mutation	SNP	G	G	A	rs149420594	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chrX:139038107G>A	ENST00000370540.1	-	3	1057	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	345						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTGTCACACGTAATGATTAT	0.358													G|||	2	0.000529801	0.0015	0.0	3775	,	,		13852	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000203933	G	MET/THR	9,3826		0,8,1,1624,570	150.0	122.0	131.0		1034	2.7	0.0	X	dbSNP_134	131	0,6728		0,0,0,2428,1872	yes	missense	CXorf66	NM_001013403.2	81	0,8,1,4052,2442	AA,AG,A,GG,G		0.0,0.2347,0.0852	probably-damaging	345/362	139038107	9,10554	2203	4300	6503	CXorf66	SO:0001583	missense	0			-	HGNC		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.1034C>T	X.37:g.139038107G>A	ENSP00000359571:p.Thr345Met	Somatic	0	255	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T345M	ENST00000370540.1	37	c.1034	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	G	0.964	-0.702284	0.03255	0.002347	0.0	ENSG00000203933	ENST00000370540	T	0.44482	0.92	3.97	2.7	0.31948	.	0.196750	0.25894	N	0.027604	T	0.16557	0.0398	N	0.04508	-0.205	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.17653	-1.0362	9	.	.	.	-3.6956	5.3052	0.15799	0.8668:0.0:0.1332:0.0	.	345	Q5JRM2	CX066_HUMAN	M	345	ENSP00000359571:T345M	.	T	-	2	0	CXorf66	138865773	0.296000	0.24398	0.022000	0.16811	0.004000	0.04260	2.188000	0.42612	0.668000	0.31126	-0.376000	0.06991	ACG	-	NULL		0.358	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	protein_coding	OTTHUMT00000058572.1	G	NM_001013403	rs149420594		139038107	-1	no_errors	ENST00000370540	ensembl	human	known	74_37	missense	SNP	0.025	A
MUC3A	4584	genome.wustl.edu	37	7	100608194	100608195	+	Intron	INS	-	-	GTCTGGG			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:100608194_100608195insGTCTGGG	ENST00000319509.7	+	6	2041				RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGGCCCCTCCACACTCCCCCA	0.614																																																	0								ENSG00000225946																																			RP11-395B7.2	SO:0001627	intron_variant	0				Clone_based_vega_gene	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2042-112->GTCTGGG	7.37:g.100608194_100608195insGTCTGGG		Somatic	NA	NA	NA		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			-	-		0.614	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	protein_coding	OTTHUMT00000347215.1	-	XM_001725354			100608195	-1	no_errors	ENST00000420080	ensembl	human	known	74_37	rna	INS	0.001:0.000	GTCTGGG
CNTRL	11064	genome.wustl.edu	37	9	123921164	123921164	+	Missense_Mutation	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr9:123921164T>C	ENST00000373855.1	+	31	5056	c.4796T>C	c.(4795-4797)tTg>tCg	p.L1599S	CNTRL_ENST00000373844.1_Missense_Mutation_p.L44S|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1047S|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1599S			Q7Z7A1	CNTRL_HUMAN	centriolin	1599					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGGCTGTCTTGGACAGGCAG	0.498																																																	0								ENSG00000119397						137.0	139.0	138.0					9																	123921164		2203	4300	6503	CNTRL	SO:0001583	missense	0			-	HGNC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4796T>C	9.37:g.123921164T>C	ENSP00000362962:p.Leu1599Ser	Somatic	0	91	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.L1599S	ENST00000373855.1	37	c.4796	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371070	0.82573	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000431571;ENST00000373845;ENST00000373844	T;T;T	0.28069	1.63;1.63;1.63	5.64	5.64	0.86602	.	.	.	.	.	T	0.51346	0.1669	M	0.63843	1.955	0.41341	D	0.987302	D	0.76494	0.999	D	0.66716	0.946	T	0.49184	-0.8966	9	0.42905	T	0.14	.	15.3422	0.74306	0.0:0.0:0.0:1.0	.	1599	Q7Z7A1	CNTRL_HUMAN	S	1599;1599;1599;355;1047;268;281;44	ENSP00000362962:L1599S;ENSP00000238341:L1599S;ENSP00000362956:L1047S	ENSP00000238341:L1599S	L	+	2	0	CNTRL	122960985	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	5.900000	0.69853	2.275000	0.75901	0.528000	0.53228	TTG	-	NULL		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	protein_coding	OTTHUMT00000250216.1	T	NM_007018	-		123921164	+1	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	SNP	0.997	C
BEND4	389206	genome.wustl.edu	37	4	42145445	42145445	+	Splice_Site	SNP	C	C	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr4:42145445C>A	ENST00000502486.1	-	3	1633	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	BEND4_ENST00000504360.1_Splice_Site_p.V348L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	352										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGCAGGATACCTGGGATGCTC	0.433																																																	0								ENSG00000188848						55.0	53.0	54.0					4																	42145445		1554	3249	4803	BEND4	SO:0001630	splice_region_variant	0			-	HGNC	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1054+1G>T	4.37:g.42145445C>A		Somatic	0	84	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	42	43.24	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BEN_domain	p.V352L	ENST00000502486.1	37	c.1054	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958404	0.74016	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.35	5.35	0.76521	.	0.132260	0.50627	D	0.000109	T	0.55386	0.1917	N	0.24115	0.695	0.80722	D	1	P;P;P	0.51351	0.942;0.944;0.942	P;P;P	0.50659	0.647;0.523;0.647	T	0.52071	-0.8624	8	.	.	.	-14.0374	19.0658	0.93110	0.0:1.0:0.0:0.0	.	274;352;352	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	223;352;348	.	.	V	-	1	0	BEND4	41840202	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.487000	0.81328	2.519000	0.84933	0.467000	0.42956	GTG	-	NULL		0.433	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	protein_coding	OTTHUMT00000360975.2	C	NM_207406	-	Missense_Mutation	42145445	-1	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	SNP	1.000	A
SMYD5	10322	genome.wustl.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																																	0								ENSG00000135632																																			SMYD5	SO:0001651	inframe_deletion	0				HGNC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del	Somatic	0	92	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D6W5H3|Q13558	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E401in_frame_del	ENST00000389501.4	37	c.1192_1194	CCDS33221.2	2																																																																																			-	NULL		0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	protein_coding	OTTHUMT00000318301.1	GAG	NM_006062			73453011	+1	no_errors	ENST00000389501	ensembl	human	known	74_37	in_frame_del	DEL	0.844:0.825:0.001	-
COG8	84342	genome.wustl.edu	37	16	69368559	69368559	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr16:69368559G>A	ENST00000306875.4	-	3	1392	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	RP11-343C2.12_ENST00000562949.1_Silent_p.P72P|COG8_ENST00000562081.1_Silent_p.P426P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	426					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGAGCACCATGGGTGGCTGCA	0.597																																																	0								ENSG00000213380						75.0	71.0	72.0					16																	69368559		2198	4300	6498	COG8	SO:0001819	synonymous_variant	0			-	HGNC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1278C>T	16.37:g.69368559G>A		Somatic	0	44	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	15	79.73	Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.P426	ENST00000306875.4	37	c.1278	CCDS10876.1	16																																																																																			-	pirsf_COG8_Metazoal_Plant		0.597	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	protein_coding	OTTHUMT00000268948.2	G	NM_032382	-		69368559	-1	no_errors	ENST00000306875	ensembl	human	known	74_37	silent	SNP	0.882	A
SLC35A5	55032	genome.wustl.edu	37	3	112300027	112300027	+	Missense_Mutation	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:112300027C>T	ENST00000492406.1	+	6	1346	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGACTTCAGGCCCTCCCTGGA	0.448																																																	0								ENSG00000138459						67.0	67.0	67.0					3																	112300027		2203	4299	6502	SLC35A5	SO:0001583	missense	0			-	HGNC	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1063C>T	3.37:g.112300027C>T	ENSP00000417654:p.Pro355Ser	Somatic	1	160	0.62		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	61	20.78	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.P355S	ENST00000492406.1	37	c.1063	CCDS2967.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687701	0.88639	.	.	ENSG00000138459	ENST00000492406	T	0.46063	0.88	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76479	-0.2944	9	.	.	.	-15.1524	20.3559	0.98840	0.0:1.0:0.0:0.0	.	355	Q9BS91	S35A5_HUMAN	S	355	ENSP00000417654:P355S	.	P	+	1	0	SLC35A5	113782717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.403000	0.79983	2.890000	0.99128	0.585000	0.79938	CCC	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	protein_coding	OTTHUMT00000354184.1	C	NM_017945	-		112300027	+1	no_errors	ENST00000492406	ensembl	human	known	74_37	missense	SNP	1.000	T
TROAP	10024	genome.wustl.edu	37	12	49719940	49719940	+	Splice_Site	SNP	C	C	T	rs575346130	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:49719940C>T	ENST00000257909.3	+	6	791	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	TROAP_ENST00000551245.1_Splice_Site_p.R239W|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	239					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGCAGCAGCCGGTGAGAAAG	0.542													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19903	0.003		0.0	False		,,,				2504	0.0																0								ENSG00000135451						80.0	83.0	82.0					12																	49719940		2203	4300	6503	TROAP	SO:0001630	splice_region_variant	0			-	HGNC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.716+1C>T	12.37:g.49719940C>T		Somatic	0	95	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	28	33.33	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R239W	ENST00000257909.3	37	c.715	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988971	0.74589	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	4.13	-1.14	0.09741	.	0.887874	0.09484	N	0.795925	T	0.43656	0.1257	L	0.42245	1.32	0.80722	D	1	B;B	0.20459	0.045;0.01	B;B	0.16722	0.016;0.007	T	0.39313	-0.9620	9	0.87932	D	0	-0.2037	2.982	0.05956	0.3636:0.3352:0.0:0.3012	.	239;239	F8W130;Q12815	.;TROAP_HUMAN	W	239;122;239;239	.	ENSP00000257909:R239W	R	+	1	2	TROAP	48006207	0.478000	0.25917	0.963000	0.40424	0.998000	0.95712	0.272000	0.18644	-0.209000	0.10156	0.655000	0.94253	CGG	-	NULL		0.542	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	protein_coding	OTTHUMT00000404300.1	C	NM_005480	-	Missense_Mutation	49719940	+1	no_errors	ENST00000257909	ensembl	human	known	74_37	missense	SNP	0.965	T
FARSB	10056	genome.wustl.edu	37	2	223493573	223493573	+	Missense_Mutation	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:223493573T>C	ENST00000281828.6	-	10	1146	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E	FARSB_ENST00000536361.1_Missense_Mutation_p.K196E	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	295					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTATGTGATTTTCCATTAGGA	0.338																																																	0								ENSG00000116120						184.0	184.0	184.0					2																	223493573		2203	4300	6503	FARSB	SO:0001583	missense	0			-	HGNC	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.883A>G	2.37:g.223493573T>C	ENSP00000281828:p.Lys295Glu	Somatic	0	99	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	33	34.00	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.K295E	ENST00000281828.6	37	c.883	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	T	7.360	0.624711	0.14193	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30182	1.54;1.54	6.03	6.03	0.97812	.	0.243928	0.47852	N	0.000211	T	0.17066	0.0410	N	0.17564	0.495	0.45239	D	0.99824	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09228	-1.0684	10	0.06891	T	0.86	-18.6534	11.6145	0.51080	0.1327:0.0:0.0:0.8673	.	295;295	A8K666;Q9NSD9	.;SYFB_HUMAN	E	295;196	ENSP00000281828:K295E;ENSP00000442950:K196E	ENSP00000281828:K295E	K	-	1	0	FARSB	223201817	1.000000	0.71417	0.986000	0.45419	0.935000	0.57460	4.894000	0.63206	2.308000	0.77769	0.533000	0.62120	AAA	-	tigrfam_Phe-tRNA-synth_IIc_bsu_arc		0.338	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	protein_coding	OTTHUMT00000256855.2	T	NM_005687	-		223493573	-1	no_errors	ENST00000281828	ensembl	human	known	74_37	missense	SNP	0.998	C
DSPP	1834	genome.wustl.edu	37	4	88536014	88536031	+	In_Frame_Del	DEL	AGCAGTGACAGCAGCAAC	AGCAGTGACAGCAGCAAC	-	rs150132251|rs147160873|rs554265208|rs201263760	byFrequency	TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	AGCAGTGACAGCAGCAAC	AGCAGTGACAGCAGCAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr4:88536014_88536031delAGCAGTGACAGCAGCAAC	ENST00000282478.7	+	4	2233_2250	c.2200_2217delAGCAGTGACAGCAGCAAC	c.(2200-2217)agcagtgacagcagcaacdel	p.SSDSSN734del	DSPP_ENST00000399271.1_In_Frame_Del_p.SSDSSN734del|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	734	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cagcagcgatagcagtgacagcagcaacagcagtgaca	0.5																																																	0								ENSG00000152591			92,4,3070		10,0,72,2,0,1499						0.4	0.2			75	539,8,5043		48,0,443,4,0,2300	no	codingComplex	DSPP	NM_014208.3		58,0,515,6,0,3799	A1A1,A1A2,A1R,A2A2,A2R,RR		9.7853,3.0322,7.3435				631,12,8113				DSPP	SO:0001651	inframe_deletion	0				HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2200_2217delAGCAGTGACAGCAGCAAC	4.37:g.88536014_88536031delAGCAGTGACAGCAGCAAC	ENSP00000282478:p.Ser734_Asn739del	Somatic	NA	NA	NA		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MUI0|O95815	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.SSNSSD737in_frame_del	ENST00000282478.7	37	c.2200_2217	CCDS43248.1	4																																																																																			-	NULL		0.500	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	AGCAGTGACAGCAGCAAC	NM_014208			88536031	+1	no_errors	ENST00000282478	ensembl	human	known	74_37	in_frame_del	DEL	0.982:0.984:0.971:0.984:0.992:0.996:0.999:0.998:0.991:0.966:0.949:0.901:0.734:0.619:0.291:0.240:0.238:0.228	-
IKZF1	10320	genome.wustl.edu	37	7	50467870	50467870	+	Missense_Mutation	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:50467870G>A	ENST00000331340.3	+	8	1260	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.A282T|IKZF1_ENST00000359197.5_Missense_Mutation_p.A327T|IKZF1_ENST00000357364.4_Missense_Mutation_p.A282T|IKZF1_ENST00000438033.1_Missense_Mutation_p.A282T|IKZF1_ENST00000349824.4_Missense_Mutation_p.A226T|IKZF1_ENST00000346667.4_Missense_Mutation_p.A139T|IKZF1_ENST00000439701.1_Missense_Mutation_p.A327T	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	369					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGGACAGCGCCGTGGAGAA	0.687			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)						ENSG00000185811						12.0	17.0	15.0					7																	50467870		2005	4131	6136	IKZF1	SO:0001583	missense	0			-	HGNC	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1105G>A	7.37:g.50467870G>A	ENSP00000331614:p.Ala369Thr	Somatic	0	49	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A369T	ENST00000331340.3	37	c.1105		7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765959	0.90020	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06371	4.68;3.31;3.4;4.4;3.48;3.39;3.31;3.4	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.983;0.999	D;D;D;P;D	0.91635	0.998;0.977;0.999;0.566;0.996	T	0.00321	-1.1819	9	0.33940	T	0.23	-13.6853	19.1852	0.93641	0.0:0.0:1.0:0.0	.	282;139;282;327;369	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	T	139;282;327;226;282;369;282;327	ENSP00000340080:A139T;ENSP00000342750:A282T;ENSP00000352123:A327T;ENSP00000342485:A226T;ENSP00000349928:A282T;ENSP00000331614:A369T;ENSP00000396554:A282T;ENSP00000413025:A327T	ENSP00000331614:A369T	A	+	1	0	IKZF1	50435364	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.573000	0.67417	2.543000	0.85770	0.585000	0.79938	GCC	-	NULL		0.687	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	protein_coding	OTTHUMT00000342242.1	G	NM_006060	-		50467870	+1	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	SNP	1.000	A
SOS1	6654	genome.wustl.edu	37	2	39216428	39216428	+	Missense_Mutation	SNP	G	G	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr2:39216428G>T	ENST00000426016.1	-	22	3460	c.3374C>A	c.(3373-3375)aCt>aAt	p.T1125N	SOS1_ENST00000402219.2_Missense_Mutation_p.T1125N|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000395038.2_Intron			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1125					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGGGGCAGAGTAACTTGGAT	0.333									Noonan syndrome																																								0								ENSG00000115904						75.0	76.0	76.0					2																	39216428		2203	4300	6503	SOS1	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	-	HGNC	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3374C>A	2.37:g.39216428G>T	ENSP00000387784:p.Thr1125Asn	Somatic	0	61	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A8K2G3|B4DXG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T1125N	ENST00000426016.1	37	c.3374	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557392	0.45590	.	.	ENSG00000115904	ENST00000426016;ENST00000402219	T;T	0.75154	-0.91;-0.91	6.07	6.07	0.98685	.	0.533786	0.18629	N	0.135625	T	0.55305	0.1912	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.12156	0.007	T	0.52616	-0.8552	10	0.12766	T	0.61	.	16.1526	0.81632	0.0:0.0:1.0:0.0	.	1125	Q07889	SOS1_HUMAN	N	1125	ENSP00000387784:T1125N;ENSP00000384675:T1125N	ENSP00000384675:T1125N	T	-	2	0	SOS1	39069932	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.603000	0.74145	2.890000	0.99128	0.585000	0.79938	ACT	-	NULL		0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	protein_coding	OTTHUMT00000219948.3	G	NM_005633	-		39216428	-1	no_errors	ENST00000402219	ensembl	human	known	74_37	missense	SNP	1.000	T
MAPK1	5594	genome.wustl.edu	37	22	22161991	22161993	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr22:22161991_22161993delGTC	ENST00000215832.6	-	2	450_452	c.262_264delGAC	c.(262-264)gacdel	p.D88del	MAPK1_ENST00000544786.1_In_Frame_Del_p.D88del|MAPK1_ENST00000398822.3_In_Frame_Del_p.D88del	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CTCGAATAATGTCATTGATTCCA	0.429																																																	0								ENSG00000100030																																			MAPK1	SO:0001651	inframe_deletion	0				HGNC	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.262_264delGAC	22.37:g.22161991_22161993delGTC	ENSP00000215832:p.Asp88del	Somatic	0	136	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	67	22.99	A8CZ64	In_Frame_Del	DEL	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.D88in_frame_del	ENST00000215832.6	37	c.264_262	CCDS13795.1	22																																																																																			-	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		0.429	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	protein_coding	OTTHUMT00000075396.2	GTC				22161993	-1	no_errors	ENST00000215832	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-
ZFC3H1	196441	genome.wustl.edu	37	12	72030390	72030390	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr12:72030390G>A	ENST00000378743.3	-	9	2338	c.1980C>T	c.(1978-1980)aaC>aaT	p.N660N	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	660					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GATGTGAATTGTTCAGAACTG	0.393																																																	0								ENSG00000133858						162.0	152.0	155.0					12																	72030390		1900	4124	6024	ZFC3H1	SO:0001819	synonymous_variant	0			-	HGNC	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1980C>T	12.37:g.72030390G>A		Somatic	0	152	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.N660	ENST00000378743.3	37	c.1980	CCDS41813.1	12																																																																																			-	NULL		0.393	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	G	NM_144982	-		72030390	-1	no_errors	ENST00000378743	ensembl	human	known	74_37	silent	SNP	1.000	A
ZMYND8	23613	genome.wustl.edu	37	20	45867527	45867527	+	Silent	SNP	T	T	C			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr20:45867527T>C	ENST00000311275.7	-	15	2833	c.2580A>G	c.(2578-2580)agA>agG	p.R860R	ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000396281.4_Silent_p.R860R|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000471951.2_Silent_p.R880R|ZMYND8_ENST00000536340.1_Silent_p.R887R|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Silent_p.R808R|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.R860R|ZMYND8_ENST00000372023.3_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	860					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGGTCTGATATCTCGTCCCCT	0.577																																																	0								ENSG00000101040																																			ZMYND8	SO:0001819	synonymous_variant	0			-	HGNC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2580A>G	20.37:g.45867527T>C		Somatic	0	147	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	35	38.60	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.R887	ENST00000311275.7	37	c.2661		20																																																																																			-	NULL		0.577	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	protein_coding	OTTHUMT00000079596.2	T	NM_183047	-		45867527	-1	no_errors	ENST00000536340	ensembl	human	known	74_37	silent	SNP	1.000	C
GGT6	124975	genome.wustl.edu	37	17	4462705	4462705	+	Silent	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr17:4462705G>A	ENST00000574154.1	-	3	668	c.372C>T	c.(370-372)aaC>aaT	p.N124N	GGT6_ENST00000381550.3_Silent_p.N130N|GGT6_ENST00000301395.3_Intron|GGT6_ENST00000573591.1_De_novo_Start_OutOfFrame			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	124					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CATCCACGACGTTGCCCCCGG	0.637																																																	0								ENSG00000167741						43.0	49.0	48.0					17																	4462705		692	1591	2283	GGT6	SO:0001819	synonymous_variant	0			-	HGNC	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.372C>T	17.37:g.4462705G>A		Somatic	0	130	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	20	54.55	B4DUH4|Q8NCM0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GGT_peptidase,prints_GGT_peptidase	p.N124	ENST00000574154.1	37	c.372	CCDS45582.1	17																																																																																			-	pfam_GGT_peptidase,prints_GGT_peptidase		0.637	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GGT6	protein_coding	OTTHUMT00000439122.1	G	NM_153338	-		4462705	-1	no_errors	ENST00000574154	ensembl	human	known	74_37	silent	SNP	0.681	A
ADAMTS6	11174	genome.wustl.edu	37	5	64466447	64466447	+	5'UTR	SNP	C	C	T			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr5:64466447C>T	ENST00000314351.5	-	0	900							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AACTCACCTTCAGTATTAGAA	0.483																																																	0								ENSG00000049192						61.0	56.0	57.0					5																	64466447		2203	4300	6503	ADAMTS6	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-422G>A	5.37:g.64466447C>T		Somatic	0	77	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E1081K	ENST00000314351.5	37	c.3241		5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723193	0.89298	.	.	ENSG00000049192	ENST00000381055	T	0.58652	0.32	5.7	5.7	0.88788	PLAC (1);	0.048307	0.85682	D	0.000000	T	0.56426	0.1984	L	0.61218	1.895	0.80722	D	1	P	0.37914	0.611	B	0.36186	0.219	T	0.53725	-0.8398	10	0.15952	T	0.53	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	1081	Q9UKP5	ATS6_HUMAN	K	1081	ENSP00000370443:E1081K	ENSP00000370443:E1081K	E	-	1	0	ADAMTS6	64502203	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.459000	0.80802	2.693000	0.91896	0.650000	0.86243	GAA	-	pfscan_PLAC		0.483	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	protein_coding	OTTHUMT00000157334.2	C	NM_197941	-		64466447	-1	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	SNP	1.000	T
CPB1	1360	genome.wustl.edu	37	3	148577804	148577804	+	3'UTR	SNP	G	G	A			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr3:148577804G>A	ENST00000491148.1	+	0	1603				RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_3'UTR|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAAAGCTGATGGCCTTGTTTC	0.418																																																	0								ENSG00000153002						55.0	55.0	55.0					3																	148577804		2203	4300	6503	CPB1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.*15G>A	3.37:g.148577804G>A		Somatic	1	167	0.60		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	30	58.90	O60834|Q53XJ0|Q96BQ8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000491148.1	37	NULL	CCDS33874.1	3																																																																																			-	-		0.418	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	protein_coding	OTTHUMT00000355928.1	G	NM_001871	-		148577804	+1	no_errors	ENST00000476847	ensembl	human	putative	74_37	rna	SNP	0.000	A
ATP5J2	9551	genome.wustl.edu	37	7	99063734	99063734	+	Splice_Site	SNP	C	C	G			TCGA-MJ-A68H-01A-11D-A307-09	TCGA-MJ-A68H-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbfa9116-45c9-422c-a976-4f0e021ec344	2a138f1b-62e6-42c6-b1a6-527769613304	g.chr7:99063734C>G	ENST00000292475.3	-	1	220	c.31G>C	c.(31-33)Gta>Cta	p.V11L	ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000394186.3_Intron|ATP5J2_ENST00000488775.1_Intron|ATP5J2_ENST00000466753.1_5'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000359832.4_Splice_Site_p.V11L|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	11					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAGCCTTACCTGGGGCCGGA	0.642																																																	0								ENSG00000241468						91.0	83.0	86.0					7																	99063734		2203	4300	6503	ATP5J2	SO:0001630	splice_region_variant	0			-	HGNC	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.31+1G>C	7.37:g.99063734C>G		Somatic	0	76	0.00		0.580044526487233	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	27	40.00	C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_F1F0-ATPsyn_F_prd	p.V11L	ENST00000292475.3	37	c.31	CCDS5665.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.282638|1.282638	0.23392|0.23392	.|.	.|.	ENSG00000241468|ENSG00000241468	ENST00000523680|ENST00000359832;ENST00000292475	.|.	.|.	.|.	2.22|2.22	-1.57|-1.57	0.08506|0.08506	.|.	.|0.327507	.|0.27181	.|N	.|0.020559	T|T	0.15825|0.15825	0.0381|0.0381	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B	.|0.14012	.|0.009;0.003	.|B;B	.|0.17979	.|0.013;0.02	T|T	0.12167|0.12167	-1.0558|-1.0558	4|7	.|.	.|.	.|.	.|.	2.4528|2.4528	0.04522|0.04522	0.2491:0.4313:0.0:0.3196|0.2491:0.4313:0.0:0.3196	.|.	.|11;11	.|F8W7V3;P56134	.|.;ATPK_HUMAN	R|L	11|11	.|.	.|.	G|V	-|-	1|1	0|0	ATP5J2|ATP5J2	98901670|98901670	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-1.589000|-1.589000	0.02104|0.02104	-0.600000|-0.600000	0.05790|0.05790	-0.300000|-0.300000	0.09419|0.09419	GGT|GTA	-	NULL		0.642	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	ATP5J2	protein_coding	OTTHUMT00000336263.1	C	NM_004889	-	Missense_Mutation	99063734	-1	no_errors	ENST00000292475	ensembl	human	known	74_37	missense	SNP	0.000	G
