#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
ALOX12B	242	genome.wustl.edu	37	17	7980435	7980435	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr17:7980435G>A	ENST00000319144.4	-	9	1408	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	AC129492.6_ENST00000399413.3_5'Flank|ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	383	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		T -> M (in ARCI2). {ECO:0000269|PubMed:16116617}.		arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCGTACCCACGTCTTGGCTAG	0.597										Multiple Myeloma(8;0.094)																																							0			GRCh37	CM053750	ALOX12B	M		ENSG00000179477						48.0	39.0	42.0					17																	7980435		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1148C>T	17.37:g.7980435G>A	ENSP00000315167:p.Thr383Met	Somatic	0	41	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	24	46.67		Missense_Mutation	SNP	23	0.00	0	16	54.29	19	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.T383M	ENST00000319144.4	37	c.1148	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693767	0.68386	.	.	ENSG00000179477	ENST00000319144	T	0.77229	-1.08	4.82	4.82	0.62117	Lipoxygenase, C-terminal (4);	0.241045	0.43919	D	0.000505	T	0.77519	0.4142	L	0.41236	1.265	0.38709	D	0.953184	D	0.56968	0.978	P	0.58077	0.832	T	0.78155	-0.2314	10	0.44086	T	0.13	-17.2144	7.8081	0.29215	0.1817:0.0:0.8183:0.0	.	383	O75342	LX12B_HUMAN	M	383	ENSP00000315167:T383M	ENSP00000315167:T383M	T	-	2	0	ALOX12B	7921160	0.973000	0.33851	0.998000	0.56505	0.939000	0.58152	2.087000	0.41653	2.393000	0.81446	0.313000	0.20887	ACG	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C		0.597	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	G		-		7980435	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	0.987	A
C1orf101	257044	genome.wustl.edu	37	1	244780873	244780873	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:244780873G>C	ENST00000366534.4	+	20	2587	c.2533G>C	c.(2533-2535)Gac>Cac	p.D845H	C1orf101_ENST00000366533.4_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.D694H	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	845						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAAACCAGGAGACTTAAATCA	0.333																																																	0								ENSG00000179397						221.0	175.0	189.0					1																	244780873		692	1589	2281	C1orf101	SO:0001583	missense	0			-	HGNC	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2533G>C	1.37:g.244780873G>C	ENSP00000355492:p.Asp845His	Somatic	0	19	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	65	25.29	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	32	0.00	0	96	16.52	19	NULL	p.D694H	ENST00000366534.4	37	c.2080	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787643	0.49997	.	.	ENSG00000179397	ENST00000366534;ENST00000428042;ENST00000366531	T;T;T	0.27256	1.68;1.68;1.68	5.73	2.85	0.33270	.	0.276519	0.31177	N	0.008113	T	0.40171	0.1106	L	0.59436	1.845	0.27960	N	0.936827	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	T	0.11518	-1.0584	10	0.42905	T	0.14	.	6.6888	0.23160	0.3408:0.0:0.6592:0.0	.	765;845	B1AQM6;Q5SY80	.;CA101_HUMAN	H	845;765;694	ENSP00000355492:D845H;ENSP00000395796:D765H;ENSP00000355489:D694H	ENSP00000355489:D694H	D	+	1	0	C1orf101	242847496	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.402000	0.44521	0.780000	0.33566	0.655000	0.94253	GAC	-	NULL		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	protein_coding	OTTHUMT00000096701.1	G	NM_173807	-		244780873	+1	no_errors	ENST00000366531	ensembl	human	known	74_37	missense	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168108282	168108282	+	Silent	SNP	T	T	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr2:168108282T>C	ENST00000409195.1	+	9	10469	c.10380T>C	c.(10378-10380)gaT>gaC	p.D3460D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.D3460D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D3238D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3285					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTATGAGGATGTCATTGCTG	0.403																																																	0								ENSG00000163092						64.0	63.0	63.0					2																	168108282		1895	4125	6020	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10380T>C	2.37:g.168108282T>C		Somatic	0	18	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	8	50.00	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	36	0.00	0	35	44.44	28	pfam_Actin-binding_Xin_repeat	p.D3460	ENST00000409195.1	37	c.10380	CCDS42769.1	2																																																																																			-	NULL		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	T	NM_152381	-		168108282	+1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	1.000	C
LINC01128	643837	genome.wustl.edu	37	1	762305	762306	+	RNA	INS	-	-	AG			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:762305_762306insAG	ENST00000445118.2	+	0	0				LINC00115_ENST00000473798.1_lincRNA	NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1																						ACCGGGAAGGTAGACACCCAAC	0.604																																																	0								ENSG00000225880																																			LINC00115			0				HGNC																													1.37:g.762306_762307dupAG		Somatic	0	76	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	49	42.35		RNA	INS	27	0.00	0	17	29.17	7	-	NULL	ENST00000445118.2	37	NULL		1																																																																																			-	-		0.604	RP11-206L10.11-001	KNOWN	basic	lincRNA	LINC00115	processed_transcript	OTTHUMT00000007015.2	-				762306	-1	no_errors	ENST00000473798	ensembl	human	known	74_37	rna	INS	0.002:0.002	AG
DDR2	4921	genome.wustl.edu	37	1	162735847	162735847	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:162735847A>G	ENST00000367922.3	+	11	1594	c.1156A>G	c.(1156-1158)Acc>Gcc	p.T386A	DDR2_ENST00000367921.3_Missense_Mutation_p.T386A	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	386					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GGCACCCACAACCTATGGTAT	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0								ENSG00000162733						121.0	115.0	117.0					1																	162735847		2203	4300	6503	DDR2	SO:0001583	missense	0			-	HGNC	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1156A>G	1.37:g.162735847A>G	ENSP00000356899:p.Thr386Ala	Somatic	0	27	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	22	45.00	Q7Z730	Missense_Mutation	SNP	24	0.00	0	29	48.21	27	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T386A	ENST00000367922.3	37	c.1156	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	A	9.986	1.229528	0.22542	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83335	-1.71;-1.71	5.48	5.48	0.80851	.	0.259607	0.37715	N	0.001971	T	0.57169	0.2035	L	0.33485	1.01	0.31297	N	0.68877	B	0.02656	0.0	B	0.04013	0.001	T	0.53301	-0.8458	9	0.06236	T	0.91	.	14.4299	0.67243	1.0:0.0:0.0:0.0	.	386	Q16832	DDR2_HUMAN	A	386	ENSP00000356899:T386A;ENSP00000356898:T386A	ENSP00000356898:T386A	T	+	1	0	DDR2	161002471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.857000	0.69525	2.081000	0.62600	0.533000	0.62120	ACC	-	NULL		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	A	NM_006182	-		162735847	+1	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	SNP	1.000	G
RP11-764K9.1	0	genome.wustl.edu	37	9	68400525	68400525	+	lincRNA	SNP	C	C	A	rs79614538	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr9:68400525C>A	ENST00000417843.2	-	0	1294																											cactttgagacaaattaagga	0.478																																																	0								ENSG00000225411																																			RP11-764K9.1			0			-	Clone_based_vega_gene																													9.37:g.68400525C>A		Somatic	0	17	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	66	19.51		RNA	SNP	172	13.07	26	255	14.72	44	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			-	-		0.478	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	lincRNA	OTTHUMT00000129817.2	C		rs79614538		68400525	-1	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	SNP	0.106	A
PTPN14	5784	genome.wustl.edu	37	1	214576257	214576257	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:214576257G>T	ENST00000366956.5	-	6	744	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q184K	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	184	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTACCTTCTGGGTCAGCTCC	0.527																																					Colon(92;557 1424 24372 34121 40073)												0								ENSG00000152104						182.0	155.0	164.0					1																	214576257		2203	4300	6503	PTPN14	SO:0001583	missense	0			-	HGNC	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.550C>A	1.37:g.214576257G>T	ENSP00000355923:p.Gln184Lys	Somatic	0	64	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	Q5VSI0	Missense_Mutation	SNP	17	0.00	0	21	0.00	0	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.Q184K	ENST00000366956.5	37	c.550	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025294	0.54683	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.77620	-1.11;-1.11	5.06	5.06	0.68205	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.123875	0.56097	D	0.000036	T	0.63885	0.2549	N	0.13371	0.34	0.47994	D	0.999569	B	0.17465	0.022	B	0.17433	0.018	T	0.59059	-0.7525	10	0.15066	T	0.55	.	18.4059	0.90536	0.0:0.0:1.0:0.0	.	184	Q15678	PTN14_HUMAN	K	184	ENSP00000355923:Q184K;ENSP00000443330:Q184K	ENSP00000355923:Q184K	Q	-	1	0	PTPN14	212642880	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.605000	0.82844	2.336000	0.79503	0.655000	0.94253	CAG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	protein_coding	OTTHUMT00000089918.2	G	NM_005401	-		214576257	-1	no_errors	ENST00000366956	ensembl	human	known	74_37	missense	SNP	0.996	T
PTPRQ	374462	genome.wustl.edu	37	12	81025993	81025993	+	Silent	SNP	C	C	T	rs138300863		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:81025993C>T	ENST00000266688.5	+	39	5697	c.5697C>T	c.(5695-5697)acC>acT	p.T1899T				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1945					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CAGAAAGAACCGTAGAGATCA	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17304	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000139304						238.0	202.0	213.0					12																	81025993		692	1591	2283	PTPRQ	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5697C>T	12.37:g.81025993C>T		Somatic	0	36	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	144	730	16.48		Silent	SNP	42	0.00	0	1447	18.35	326	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T1899	ENST00000266688.5	37	c.5697		12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.714	0.695775	0.15106	.	.	ENSG00000139304	ENST00000532722	.	.	.	5.27	0.93	0.19454	.	.	.	.	.	T	0.51753	0.1693	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39099	-0.9630	4	.	.	.	.	5.6001	0.17349	0.0:0.1482:0.2596:0.5923	.	.	.	.	L	1600	.	.	P	+	2	0	PTPRQ	79550124	0.997000	0.39634	1.000000	0.80357	0.843000	0.47879	0.110000	0.15437	0.289000	0.22422	-0.658000	0.03865	CCG	-	NULL		0.338	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	protein_coding		C	NM_001145026	rs138300863		81025993	+1	no_errors	ENST00000266688	ensembl	human	known	74_37	silent	SNP	0.998	T
SH3BGR	6450	genome.wustl.edu	37	21	40883671	40883672	+	In_Frame_Ins	INS	-	-	AGA	rs111921581|rs397694871|rs3831201|rs77389080	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr21:40883671_40883672insAGA	ENST00000333634.4	+	6	767_768	c.689_690insAGA	c.(688-693)ggagaa>ggAGAagaa	p.232_233insE	SH3BGR_ENST00000380631.1_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000458295.1_In_Frame_Ins_p.90_91insE|SH3BGR_ENST00000380637.3_In_Frame_Ins_p.121_122insE|SH3BGR_ENST00000380634.1_In_Frame_Ins_p.121_122insE	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	232	Glu-rich (acidic).			E -> EE (in Ref. 4; BM474020). {ECO:0000305}.	positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ACTGCAGAAGGAGAAGAGCCTG	0.46																																																	0								ENSG00000185437		,	2200,2064		562,1076,494					,	-5.7	0.0		dbSNP_131	112	4701,3553		1343,2015,769	no	coding,coding	SH3BGR	NM_007341.2,NM_001001713.1	,	1905,3091,1263	A1A1,A1R,RR		43.0458,48.4053,44.8714	,	,		6901,5617				SH3BGR	SO:0001652	inframe_insertion	0				HGNC		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.693_695dupAGA	21.37:g.40883675_40883677dupAGA	ENSP00000332513:p.Glu232_Glu232dup	Somatic	0	41	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	11	15.38	A6ND59|D3DSI2|Q9BRB8	In_Frame_Ins	INS	27	0.00	0	32	0.00	0	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.233in_frame_insE	ENST00000333634.4	37	c.689_690	CCDS13666.1	21																																																																																			-	NULL		0.460	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	protein_coding	OTTHUMT00000157377.6	-	NM_007341			40883672	+1	no_errors	ENST00000333634	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.002	AGA
ALG2	85365	genome.wustl.edu	37	9	101980657	101980657	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr9:101980657A>T	ENST00000476832.1	-	2	871	c.810T>A	c.(808-810)taT>taA	p.Y270*	ALG2_ENST00000319033.6_Nonsense_Mutation_p.Y177*	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTCTCTCGTCATAACCACCTG	0.473																																																	0								ENSG00000119523						136.0	131.0	133.0					9																	101980657		2203	4300	6503	ALG2	SO:0001587	stop_gained	0			-	HGNC	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.810T>A	9.37:g.101980657A>T	ENSP00000417764:p.Tyr270*	Somatic	0	42	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Nonsense_Mutation	SNP	29	0.00	0	29	40.82	20	pfam_Glyco_trans_1	p.Y270*	ENST00000476832.1	37	c.810	CCDS6739.1	9	.	.	.	.	.	.	.	.	.	.	A	33	5.232009	0.95207	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	.	.	.	5.78	-1.06	0.10002	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4185	10.3129	0.43718	0.6259:0.0:0.3741:0.0	.	.	.	.	X	270;177	.	ENSP00000432675:Y177X	Y	-	3	2	ALG2	101020478	0.998000	0.40836	0.977000	0.42913	0.984000	0.73092	0.703000	0.25646	-0.112000	0.11979	0.533000	0.62120	TAT	-	pfam_Glyco_trans_1		0.473	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG2	protein_coding	OTTHUMT00000215080.1	A	NM_033087	-		101980657	-1	no_errors	ENST00000476832	ensembl	human	known	74_37	nonsense	SNP	1.000	T
DHX35	60625	genome.wustl.edu	37	20	37631425	37631425	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:37631425G>T	ENST00000252011.3	+	10	799	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DHX35_ENST00000373325.2_Missense_Mutation_p.D256Y|DHX35_ENST00000373323.4_Missense_Mutation_p.D225Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	256					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCTGTTCCAGATTATATCAA	0.393																																																	0								ENSG00000101452						113.0	98.0	103.0					20																	37631425		2203	4300	6503	DHX35	SO:0001583	missense	0			-	HGNC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.766G>T	20.37:g.37631425G>T	ENSP00000252011:p.Asp256Tyr	Somatic	0	29	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	41	0.00	0	60	0.00	0	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D256Y	ENST00000252011.3	37	c.766	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683201	0.88542	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.58	5.58	0.84498	.	0.041315	0.85682	D	0.000000	T	0.35770	0.0943	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.973	T	0.59674	-0.7410	10	0.87932	D	0	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	225;256	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	Y	256;256;225;221	ENSP00000362422:D256Y;ENSP00000252011:D256Y;ENSP00000362420:D225Y;ENSP00000414630:D221Y	ENSP00000252011:D256Y	D	+	1	0	DHX35	37064839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.071000	0.93980	2.797000	0.96272	0.561000	0.74099	GAT	-	superfamily_P-loop_NTPase		0.393	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	protein_coding	OTTHUMT00000079212.2	G	NM_021931	-		37631425	+1	no_errors	ENST00000252011	ensembl	human	known	74_37	missense	SNP	1.000	T
CROCCP2	84809	genome.wustl.edu	37	1	16945227	16945227	+	lincRNA	SNP	G	G	T	rs9728628	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:16945227G>T	ENST00000412962.1	-	0	2292				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CATTCTTACAGGCATTACCTT	0.373																																																	0								ENSG00000215908																																			CROCCP2			0			-	HGNC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945227G>T		Somatic	0	10	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	153	8.38	14	251	9.71	27	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			-	-		0.373	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	lincRNA	OTTHUMT00000092784.1	G	NR_026752.1	rs9728628		16945227	-1	no_errors	ENST00000412962	ensembl	human	known	74_37	rna	SNP	0.004	T
OBP2B	29989	genome.wustl.edu	37	9	136080786	136080786	+	3'UTR	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr9:136080786G>C	ENST00000372034.3	-	0	568				OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B						chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TGGAGGTGCAGACCCGGGGGC	0.677																																																	0								ENSG00000171102																																			OBP2B	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.*14C>G	9.37:g.136080786G>C		Somatic	0	62	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	20	53.49	Q5VSP6|Q9NY51|Q9NY52	RNA	SNP	22	0.00	0	13	27.78	5	-	NULL	ENST00000372034.3	37	NULL	CCDS6961.1	9																																																																																			-	-		0.677	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	protein_coding	OTTHUMT00000054851.1	G	NM_014581	-		136080786	-1	no_errors	ENST00000461961	ensembl	human	known	74_37	rna	SNP	0.004	C
NDC80	10403	genome.wustl.edu	37	18	2577855	2577855	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr18:2577855G>T	ENST00000261597.4	+	4	472	c.290G>T	c.(289-291)cGa>cTa	p.R97L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	97	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTGTATTCGACAACTCTGT	0.363																																																	0								ENSG00000080986						96.0	95.0	95.0					18																	2577855		2203	4300	6503	NDC80	SO:0001583	missense	0			-	HGNC	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.290G>T	18.37:g.2577855G>T	ENSP00000261597:p.Arg97Leu	Somatic	0	38	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q6PJX2	Missense_Mutation	SNP	47	0.00	0	32	0.00	0	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.R97L	ENST00000261597.4	37	c.290	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188279	0.78789	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.45668	0.89	5.62	5.62	0.85841	.	0.111126	0.64402	D	0.000017	T	0.58921	0.2156	M	0.67700	2.07	0.46564	D	0.9991	D	0.76494	0.999	P	0.61940	0.896	T	0.59731	-0.7399	10	0.54805	T	0.06	-7.1828	13.371	0.60713	0.0807:0.0:0.9193:0.0	.	97	O14777	NDC80_HUMAN	L	97	ENSP00000261597:R97L	ENSP00000261597:R97L	R	+	2	0	NDC80	2567855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.551000	0.60740	2.648000	0.89879	0.650000	0.86243	CGA	-	pfam_Kinetochore_Ndc80		0.363	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	protein_coding	OTTHUMT00000254327.1	G	NM_006101	-		2577855	+1	no_errors	ENST00000261597	ensembl	human	known	74_37	missense	SNP	1.000	T
SH2D4B	387694	genome.wustl.edu	37	10	82394246	82394246	+	Silent	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:82394246C>A	ENST00000470604.2	+	7	1188	c.1188C>A	c.(1186-1188)ctC>ctA	p.L396L	SH2D4B_ENST00000313455.4_Intron|SH2D4B_ENST00000372150.3_Intron|SH2D4B_ENST00000339284.2_Intron			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	396	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TCACGGATCTCGTTGATTTCC	0.512																																																	0								ENSG00000178217																																			SH2D4B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1188C>A	10.37:g.82394246C>A		Somatic	0	27	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	32	0.00	0	49	0.00	0	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.L396	ENST00000470604.2	37	c.1188		10																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.512	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	protein_coding		C	XM_351984	-		82394246	+1	no_errors	ENST00000470604	ensembl	human	known	74_37	silent	SNP	0.996	A
OR51I2	390064	genome.wustl.edu	37	11	5474866	5474866	+	Nonsense_Mutation	SNP	C	C	T	rs145725236		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:5474866C>T	ENST00000341449.2	+	1	229	c.148C>T	c.(148-150)Cga>Tga	p.R50*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	50					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R50R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTGTGCGAGTGGAGCC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		20597	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)						ENSG00000187918	C	stop/ARG	0,4402		0,0,2201	105.0	91.0	96.0		148	-1.1	0.4	11	dbSNP_134	96	1,8593	1.2+/-3.3	0,1,4296	yes	stop-gained	OR51I2	NM_001004754.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		50/313	5474866	1,12995	2201	4297	6498	OR51I2	SO:0001587	stop_gained	0			GMAF=0.0005	HGNC	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.148C>T	11.37:g.5474866C>T	ENSP00000341987:p.Arg50*	Somatic	0	37	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	Q6IF81	Nonsense_Mutation	SNP	29	0.00	0	20	13.04	3	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R50*	ENST00000341449.2	37	c.148	CCDS31383.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.88	3.497586	0.64186	0.0	1.16E-4	ENSG00000187918	ENST00000341449	.	.	.	5.57	-1.13	0.09775	.	0.128046	0.35378	N	0.003252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	3.4086	0.07350	0.5319:0.2238:0.1057:0.1386	.	.	.	.	X	50	.	ENSP00000341987:R50X	R	+	1	2	OR51I2	5431442	0.000000	0.05858	0.383000	0.26132	0.586000	0.36452	-0.454000	0.06770	0.129000	0.18514	0.650000	0.86243	CGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I2	protein_coding	OTTHUMT00000143385.1	C	NM_001004754	rs145725236		5474866	+1	no_errors	ENST00000341449	ensembl	human	known	74_37	nonsense	SNP	0.002	T
GRID1	2894	genome.wustl.edu	37	10	87362184	87362184	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:87362184G>A	ENST00000327946.7	-	16	2961	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.A530V|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	959					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGGCATGGTCGCCGAGCTGCT	0.657										Multiple Myeloma(13;0.14)																																							0								ENSG00000182771						60.0	63.0	62.0					10																	87362184		2203	4300	6503	GRID1	SO:0001583	missense	0			-	HGNC	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2876C>T	10.37:g.87362184G>A	ENSP00000330148:p.Ala959Val	Somatic	0	24	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	38	37.70	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	15	0.00	0	11	47.83	11	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A959V	ENST00000327946.7	37	c.2876	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021888	0.75275	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14893	2.7;2.47	5.83	5.83	0.93111	.	0.145914	0.64402	D	0.000009	T	0.13586	0.0329	L	0.36672	1.1	0.58432	D	0.999995	P	0.43662	0.814	B	0.25140	0.058	T	0.03423	-1.1038	10	0.87932	D	0	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	959	Q9ULK0	GRID1_HUMAN	V	959;530	ENSP00000330148:A959V;ENSP00000444455:A530V	ENSP00000330148:A959V	A	-	2	0	GRID1	87352164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCG	-	NULL		0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	G	XM_043613	-		87362184	-1	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	SNP	1.000	A
CPT1A	1374	genome.wustl.edu	37	11	68529106	68529106	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:68529106T>A	ENST00000265641.5	-	16	2079	c.1925A>T	c.(1924-1926)cAt>cTt	p.H642L	CPT1A_ENST00000376618.2_Missense_Mutation_p.H642L|CPT1A_ENST00000540367.1_Missense_Mutation_p.H642L|CPT1A_ENST00000539743.1_Missense_Mutation_p.H642L|CPT1A_ENST00000537756.2_5'Flank	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	642					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGATACATATGCTGATGCTT	0.498																																																	0								ENSG00000110090						265.0	238.0	247.0					11																	68529106		2200	4294	6494	CPT1A	SO:0001583	missense	0			-	HGNC	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1925A>T	11.37:g.68529106T>A	ENSP00000265641:p.His642Leu	Somatic	0	44	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	14	70.83	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	19	0.00	0	5	70.59	12	pfam_Carn_acyl_trans	p.H642L	ENST00000265641.5	37	c.1925	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	T	4.464	0.086013	0.08583	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.65	-6.84	0.01687	.	0.520380	0.21372	N	0.075612	T	0.77922	0.4203	N	0.25890	0.77	0.24253	N	0.995316	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.57911	-0.7729	10	0.22706	T	0.39	.	16.4499	0.83976	0.3104:0.0:0.0:0.6896	.	642;642	P50416;P50416-2	CPT1A_HUMAN;.	L	642	ENSP00000439084:H642L;ENSP00000365803:H642L;ENSP00000265641:H642L;ENSP00000446108:H642L	ENSP00000265641:H642L	H	-	2	0	CPT1A	68285682	0.007000	0.16637	0.020000	0.16555	0.010000	0.07245	0.050000	0.14120	-0.580000	0.05944	-1.601000	0.00813	CAT	-	pfam_Carn_acyl_trans		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	protein_coding	OTTHUMT00000397457.2	T	NM_001876	-		68529106	-1	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	SNP	0.004	A
AMZ1	155185	genome.wustl.edu	37	7	2741864	2741918	+	Intron	DEL	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	-	rs798471|rs540419422|rs35358739|rs191436847	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:2741864_2741918delTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	ENST00000312371.4	+	3	672				AMZ1_ENST00000407112.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGTGCTACTCTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTGTCTGCCCCAG	0.635																																																	0								ENSG00000174945																																			AMZ1	SO:0001627	intron_variant	0				HGNC	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.305-438TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG>-	7.37:g.2741864_2741918delTGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG		Somatic	NA	NA	NA		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KRS0|Q8TF51	RNA	DEL	26	0.00	0	43	0.00	0	-	NULL	ENST00000312371.4	37	NULL	CCDS34589.1	7																																																																																			-	-		0.635	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	protein_coding	OTTHUMT00000325244.1	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	NM_133463			2741918	+1	no_errors	ENST00000485540	ensembl	human	known	74_37	rna	DEL	0.003:0.003:0.002:0.002:0.002:0.003:0.003:0.001:0.005:0.071:0.077:0.080:0.076:0.071:0.067:0.056:0.014:0.004:0.001:0.002:0.002:0.000:0.001:0.002:0.003:0.004:0.005:0.002:0.002:0.002:0.002:0.002:0.002:0.003:0.000:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000	-
TRIOBP	11078	genome.wustl.edu	37	22	38131066	38131066	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr22:38131066G>A	ENST00000406386.3	+	9	4978	c.4723G>A	c.(4723-4725)Gcc>Acc	p.A1575T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1575					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGGGTCTGGGCCCGTGTCCC	0.687											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000100106						36.0	42.0	41.0					22																	38131066		1931	4105	6036	TRIOBP	SO:0001583	missense	0			-	HGNC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4723G>A	22.37:g.38131066G>A	ENSP00000384312:p.Ala1575Thr	Somatic	0	35	0.00	875	0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	20	0.00	0	16	48.39	15	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A1575T	ENST00000406386.3	37	c.4723	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	7.798	0.713036	0.15306	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21031	2.03	5.11	1.77	0.24775	.	.	.	.	.	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	0.999993	B	0.17038	0.02	B	0.12156	0.007	T	0.40887	-0.9539	9	0.11182	T	0.66	.	4.4646	0.11682	0.2158:0.1841:0.6001:0.0	.	1575	Q9H2D6	TARA_HUMAN	T	1575;1536	ENSP00000384312:A1575T	ENSP00000384312:A1575T	A	+	1	0	TRIOBP	36461012	0.424000	0.25490	0.247000	0.24249	0.211000	0.24417	0.692000	0.25482	0.139000	0.18822	0.563000	0.77884	GCC	-	NULL		0.687	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	G		-		38131066	+1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	SNP	0.040	A
AC092646.3	0	genome.wustl.edu	37	2	124439726	124439726	+	RNA	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr2:124439726C>A	ENST00000408762.1	-	0	65																											ggtgttttctccaacttgcct	0.527																																																	0								ENSG00000221689																																			AC092646.3			0			-	Clone_based_ensembl_gene																													2.37:g.124439726C>A		Somatic	0	33	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.39		RNA	SNP	21	0.00	0	37	11.90	5	-	NULL	ENST00000408762.1	37	NULL		2																																																																																			-	-		0.527	AC092646.3-201	NOVEL	basic	miRNA	ENSG00000221689	miRNA		C		-		124439726	-1	no_errors	ENST00000408762	ensembl	human	novel	74_37	rna	SNP	0.086	A
LINC00482	284185	genome.wustl.edu	37	17	79278308	79278308	+	lincRNA	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr17:79278308G>T	ENST00000332012.5	-	0	1285					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		CGCCGCCCGGGTTTGAGGCCT	0.627																																																	0								ENSG00000185168																																			LINC00482			0			-	HGNC	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278308G>T		Somatic	0	27	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		RNA	SNP	24	0.00	0	47	0.00	0	-	NULL	ENST00000332012.5	37	NULL		17																																																																																			-	-		0.627	LINC00482-001	KNOWN	basic	lincRNA	LINC00482	lincRNA	OTTHUMT00000439605.1	G	NM_178519	-		79278308	-1	no_errors	ENST00000332012	ensembl	human	known	74_37	rna	SNP	0.000	T
POM121L9P	29774	genome.wustl.edu	37	22	24659950	24659950	+	RNA	DEL	C	C	-			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr22:24659950delC	ENST00000414583.2	+	0	3475					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCGGCCAGAACCCCTGCGAAT	0.572																																																	0								ENSG00000128262																																			POM121L9P			0				HGNC	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659950delC		Somatic	0	22	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52		RNA	DEL	20	13.04	3	31	3.12	1	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			-	-		0.572	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	pseudogene	OTTHUMT00000319991.1	C	NM_014549			24659950	+1	no_errors	ENST00000414583	ensembl	human	known	74_37	rna	DEL	0.000	-
RNF113A	7737	genome.wustl.edu	37	X	119005266	119005266	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chrX:119005266C>T	ENST00000371442.2	-	1	525	c.311G>A	c.(310-312)cGt>cAt	p.R104H	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	104							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TTTCGCCGAACGGGTGGATTT	0.557																																																	0								ENSG00000125352						166.0	168.0	167.0					X																	119005266		2203	4300	6503	RNF113A	SO:0001583	missense	0			-	HGNC	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.311G>A	X.37:g.119005266C>T	ENSP00000360497:p.Arg104His	Somatic	0	27	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	B2RBR7	Missense_Mutation	SNP	20	0.00	0	32	23.81	10	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R104H	ENST00000371442.2	37	c.311	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813235	0.70912	.	.	ENSG00000125352	ENST00000371442	T	0.35048	1.33	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.80028	2.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.66106	-0.6006	10	0.54805	T	0.06	0.3625	15.7553	0.78018	0.0:1.0:0.0:0.0	.	104	O15541	R113A_HUMAN	H	104	ENSP00000360497:R104H	ENSP00000360497:R104H	R	-	2	0	RNF113A	118889294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.966000	0.56795	2.318000	0.78349	0.600000	0.82982	CGT	-	NULL		0.557	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	protein_coding	OTTHUMT00000058071.1	C	NM_006978	-		119005266	-1	no_errors	ENST00000371442	ensembl	human	known	74_37	missense	SNP	1.000	T
TEX15	56154	genome.wustl.edu	37	8	30694789	30694789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr8:30694789delT	ENST00000256246.2	-	3	7936	c.7862delA	c.(7861-7863)aatfs	p.N2621fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2621					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTTTTGAATTTTTGTCATT	0.378																																																	0								ENSG00000133863						98.0	99.0	99.0					8																	30694789		2203	4300	6503	TEX15	SO:0001589	frameshift_variant	0				HGNC	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7862delA	8.37:g.30694789delT	ENSP00000256246:p.Asn2621fs	Somatic	0	37	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	33	26.67		Frame_Shift_Del	DEL	41	0.00	0	38	44.12	30	NULL	p.N2621fs	ENST00000256246.2	37	c.7862	CCDS6080.1	8																																																																																			-	NULL		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	protein_coding	OTTHUMT00000376193.1	T				30694789	-1	no_errors	ENST00000256246	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
VPS33A	65082	genome.wustl.edu	37	12	122735534	122735534	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:122735534G>T	ENST00000267199.4	-	5	708	c.596C>A	c.(595-597)gCt>gAt	p.A199D	RP11-512M8.5_ENST00000535844.1_Intron|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	199					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTCACCCGAGCGCATTCTCC	0.557																																																	0								ENSG00000139719						91.0	85.0	87.0					12																	122735534		2203	4300	6503	VPS33A	SO:0001583	missense	0			-	HGNC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.596C>A	12.37:g.122735534G>T	ENSP00000267199:p.Ala199Asp	Somatic	0	54	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q547V4|Q9H5Q0	Missense_Mutation	SNP	27	0.00	0	45	0.00	0	pfam_Sec1-like,superfamily_Sec1-like	p.A199D	ENST00000267199.4	37	c.596	CCDS9231.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.634282	0.96682	.	.	ENSG00000139719	ENST00000267199	T	0.81163	-1.46	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.93004	0.6426	10	0.87932	D	0	-21.7182	20.4008	0.98991	0.0:0.0:1.0:0.0	.	199	Q96AX1	VP33A_HUMAN	D	199	ENSP00000267199:A199D	ENSP00000267199:A199D	A	-	2	0	VPS33A	121301487	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.709000	0.98729	2.826000	0.97356	0.655000	0.94253	GCT	-	pfam_Sec1-like,superfamily_Sec1-like		0.557	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	protein_coding	OTTHUMT00000401607.2	G		-		122735534	-1	no_errors	ENST00000267199	ensembl	human	known	74_37	missense	SNP	1.000	T
IGSF1	3547	genome.wustl.edu	37	X	130419397	130419397	+	Silent	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chrX:130419397G>A	ENST00000361420.3	-	5	502	c.423C>T	c.(421-423)ccC>ccT	p.P141P	IGSF1_ENST00000370910.1_Silent_p.P132P|IGSF1_ENST00000370903.3_Silent_p.P141P|IGSF1_ENST00000370904.1_Silent_p.P132P|IGSF1_ENST00000370901.4_Silent_p.P141P|IGSF1_ENST00000370900.1_Silent_p.P141P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	141	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGAAGAGCGGGGGTCTCAG	0.493																																																	0								ENSG00000147255						62.0	60.0	61.0					X																	130419397		2203	4299	6502	IGSF1	SO:0001819	synonymous_variant	0			-	HGNC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.423C>T	X.37:g.130419397G>A		Somatic	0	11	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	21	0.00	0	24	46.67	21	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P141	ENST00000361420.3	37	c.423	CCDS14629.1	X																																																																																			-	smart_Ig_sub		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	G		-		130419397	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	silent	SNP	0.000	A
OR2T4	127074	genome.wustl.edu	37	1	248525251	248525251	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:248525251G>C	ENST00000366475.1	+	1	369	c.369G>C	c.(367-369)aaG>aaC	p.K123N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGAATAAGATCTCAGCCC	0.488																																																	0								ENSG00000196944						266.0	205.0	226.0					1																	248525251		2203	4300	6503	OR2T4	SO:0001583	missense	0			-	HGNC	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.369G>C	1.37:g.248525251G>C	ENSP00000355431:p.Lys123Asn	Somatic	0	118	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	68	16.05	Q6IEZ8	Missense_Mutation	SNP	32	0.00	0	17	37.93	11	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K123N	ENST00000366475.1	37	c.369	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.115997	0.08831	.	.	ENSG00000196944	ENST00000366475	T	0.00554	6.64	3.48	-3.82	0.04281	GPCR, rhodopsin-like superfamily (1);	0.798432	0.10927	N	0.618768	T	0.00271	0.0008	N	0.05487	-0.04	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.42068	-0.9473	10	0.42905	T	0.14	.	0.8541	0.01178	0.4337:0.1204:0.1775:0.2684	.	123	Q8NH00	OR2T4_HUMAN	N	123	ENSP00000355431:K123N	ENSP00000355431:K123N	K	+	3	2	OR2T4	246591874	0.000000	0.05858	0.007000	0.13788	0.494000	0.33585	-2.465000	0.00995	-0.320000	0.08640	0.485000	0.47835	AAG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	protein_coding	OTTHUMT00000097349.2	G	NM_001004696	-		248525251	+1	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	SNP	0.001	C
CPZ	8532	genome.wustl.edu	37	4	8602867	8602867	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr4:8602867C>A	ENST00000360986.4	+	3	313	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	CPZ_ENST00000315782.6_Missense_Mutation_p.Q36K|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	47	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTGGACCTGCAGCTCAGGAC	0.637																																																	0								ENSG00000109625						58.0	40.0	46.0					4																	8602867		2203	4300	6503	CPZ	SO:0001583	missense	0			-	HGNC	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.139C>A	4.37:g.8602867C>A	ENSP00000354255:p.Gln47Lys	Somatic	0	60	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.33	O00520|Q96MX2	Missense_Mutation	SNP	21	4.55	1	28	0.00	0	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.Q47K	ENST00000360986.4	37	c.139	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	C	4.718	0.133447	0.09032	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.74842	-0.88;-0.88	3.59	0.496	0.16896	Frizzled domain (5);	1.527380	0.03704	N	0.249147	T	0.63367	0.2505	L	0.46157	1.445	0.09310	N	0.999999	B;B	0.21821	0.049;0.061	B;B	0.21546	0.019;0.035	T	0.28202	-1.0051	10	0.13470	T	0.59	-8.789	2.3148	0.04196	0.3509:0.2079:0.3418:0.0994	.	36;47	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	47;36	ENSP00000354255:Q47K;ENSP00000315074:Q36K	ENSP00000315074:Q36K	Q	+	1	0	CPZ	8653767	0.003000	0.15002	0.909000	0.35828	0.942000	0.58702	0.169000	0.16641	0.178000	0.19917	0.561000	0.74099	CAG	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.637	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	C	NM_003652	-		8602867	+1	no_errors	ENST00000360986	ensembl	human	known	74_37	missense	SNP	0.013	A
MDM1	56890	genome.wustl.edu	37	12	68727007	68727008	+	5'Flank	INS	-	-	ATTTATTTATTC	rs144332805|rs55652355	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:68727007_68727008insATTTATTTATTC	ENST00000303145.7	-	0	0				MDM1_ENST00000411698.2_5'Flank|MDM1_ENST00000393543.3_5'Flank|RP11-81H14.2_ENST00000541707.1_lincRNA|MDM1_ENST00000540418.1_5'Flank|MDM1_ENST00000430606.2_5'Flank|MDM1_ENST00000545724.1_5'Flank	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)						retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CATACATCtttatttatttatt	0.312														2664	0.531949	0.733	0.4251	5008	,	,		17393	0.3363		0.5368	False		,,,				2504	0.5327																0								ENSG00000251301																																			RP11-81H14.2	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05			12.37:g.68727007_68727008insATTTATTTATTC	Exception_encountered	Somatic	NA	NA	NA		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	RNA	INS	21	38.24	13	592	29.36	246	-	NULL	ENST00000303145.7	37	NULL	CCDS8983.1	12																																																																																			-	-		0.312	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927981	protein_coding	OTTHUMT00000402402.1	-	NM_020128			68727008	-1	no_errors	ENST00000539404	ensembl	human	known	74_37	rna	INS	0.002:0.001	ATTTATTTATTC
MBL2	4153	genome.wustl.edu	37	10	54530489	54530489	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:54530489G>A	ENST00000373968.3	-	2	309	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	82	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGAAGGCCCTGGATTTCCTGG	0.542																																																	0								ENSG00000165471						81.0	91.0	87.0					10																	54530489		2203	4300	6503	MBL2	SO:0001583	missense	0			-	HGNC	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.245C>T	10.37:g.54530489G>A	ENSP00000363079:p.Pro82Leu	Somatic	0	43	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29	Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	29	0.00	0	31	47.46	28	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P82L	ENST00000373968.3	37	c.245	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316427	0.40996	.	.	ENSG00000165471	ENST00000373968	D	0.93076	-3.16	4.79	3.86	0.44501	.	0.470345	0.20012	N	0.101085	D	0.92551	0.7634	M	0.76433	2.335	0.42711	D	0.993648	B	0.29136	0.234	B	0.31751	0.135	D	0.91653	0.5336	10	0.56958	D	0.05	-2.8772	12.6509	0.56761	0.0:0.0:0.8329:0.1671	.	82	P11226	MBL2_HUMAN	L	82	ENSP00000363079:P82L	ENSP00000363079:P82L	P	-	2	0	MBL2	54200495	0.996000	0.38824	0.640000	0.29408	0.002000	0.02628	1.355000	0.34068	1.268000	0.44264	0.655000	0.94253	CCA	-	pfam_Collagen		0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	protein_coding	OTTHUMT00000048115.1	G	NM_000242	-		54530489	-1	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	SNP	0.910	A
KRT1	3848	genome.wustl.edu	37	12	53072523	53072523	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:53072523C>A	ENST00000252244.3	-	2	667	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	203	Coil 1A.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCTGGTTCTGCTGCTCCAGGA	0.453																																																	0								ENSG00000167768						57.0	53.0	54.0					12																	53072523		2203	4300	6503	KRT1	SO:0001583	missense	0			-	HGNC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.609G>T	12.37:g.53072523C>A	ENSP00000252244:p.Gln203His	Somatic	0	31	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	42	0.00	0	28	54.84	34	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.Q203H	ENST00000252244.3	37	c.609	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824267	0.71143	.	.	ENSG00000167768	ENST00000252244	T	0.77620	-1.11	4.69	2.82	0.32997	Filament (1);	.	.	.	.	D	0.92420	0.7594	H	0.99475	4.585	0.44579	D	0.997546	D	0.89917	1.0	D	0.97110	1.0	D	0.92287	0.5838	9	0.87932	D	0	.	10.3674	0.44033	0.0:0.8363:0.0:0.1637	.	203	P04264	K2C1_HUMAN	H	203	ENSP00000252244:Q203H	ENSP00000252244:Q203H	Q	-	3	2	KRT1	51358790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.734000	0.38166	0.497000	0.27926	0.579000	0.79373	CAG	-	pfam_IF		0.453	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	protein_coding	OTTHUMT00000405706.1	C	NM_006121	-		53072523	-1	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	SNP	1.000	A
NSUN6	221078	genome.wustl.edu	37	10	18874990	18874990	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr10:18874990G>C	ENST00000377304.4	-	8	1228	c.810C>G	c.(808-810)aaC>aaG	p.N270K		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	270							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTCTACTTTGTTGAAGATTT	0.328																																																	0								ENSG00000241058						66.0	62.0	63.0					10																	18874990		2203	4300	6503	NSUN6	SO:0001583	missense	0			-	HGNC	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.810C>G	10.37:g.18874990G>C	ENSP00000366519:p.Asn270Lys	Somatic	0	42	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	B0YJ54	Missense_Mutation	SNP	28	0.00	0	41	30.51	18	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.N270K	ENST00000377304.4	37	c.810	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	G	6.721	0.501686	0.12822	.	.	ENSG00000241058	ENST00000377304	T	0.20738	2.05	4.16	-1.7	0.08159	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.229196	0.41823	N	0.000801	T	0.06508	0.0167	N	0.10874	0.06	0.29867	N	0.827148	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.05959	T	0.93	.	4.3465	0.11134	0.2375:0.0:0.4911:0.2714	.	270	Q8TEA1	NSUN6_HUMAN	K	270	ENSP00000366519:N270K	ENSP00000366519:N270K	N	-	3	2	NSUN6	18914996	0.996000	0.38824	0.202000	0.23494	0.400000	0.30750	0.715000	0.25822	-0.304000	0.08843	0.313000	0.20887	AAC	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom		0.328	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	protein_coding	OTTHUMT00000047083.1	G	NM_182543	-		18874990	-1	no_errors	ENST00000377304	ensembl	human	known	74_37	missense	SNP	0.230	C
IL12RB2	3595	genome.wustl.edu	37	1	67804363	67804363	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:67804363C>A	ENST00000262345.1	+	8	1655	c.1015C>A	c.(1015-1017)Caa>Aaa	p.Q339K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q339K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	339	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTACAGTAGACAACAGATTTC	0.358																																																	0								ENSG00000081985						114.0	127.0	123.0					1																	67804363		2203	4300	6503	IL12RB2	SO:0001583	missense	0			-	HGNC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1015C>A	1.37:g.67804363C>A	ENSP00000262345:p.Gln339Lys	Somatic	0	27	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	13	61.76	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	19	0.00	0	42	34.38	22	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q339K	ENST00000262345.1	37	c.1015	CCDS638.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.395374|3.395374	0.62066|0.62066	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.64|.	4.92|4.92	3.98|3.98	0.46160|0.46160	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.219874|.	0.47455|.	D|.	0.000226|.	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.55990|0.55990	1.75|1.75	0.42037|0.42037	D|D	0.991051|0.991051	B;P;B;P|.	0.44816|.	0.23;0.794;0.335;0.844|.	B;P;B;B|.	0.45610|.	0.082;0.487;0.19;0.386|.	T|T	0.52563|0.52563	-0.8559|-0.8559	10|5	0.24483|.	T|.	0.36|.	-9.8897|-9.8897	13.5931|13.5931	0.61971|0.61971	0.0:0.8422:0.1578:0.0|0.0:0.8422:0.1578:0.0	.|.	339;339;339;339|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	K|K	339|206	ENSP00000262345:Q339K;ENSP00000360039:Q339K;ENSP00000445276:Q339K;ENSP00000442443:Q339K|.	ENSP00000262345:Q339K|.	Q|T	+|+	1|2	0|0	IL12RB2|IL12RB2	67576951|67576951	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	1.961000|1.961000	0.40432|0.40432	1.346000|1.346000	0.45694|0.45694	0.563000|0.563000	0.77884|0.77884	CAA|ACA	-	superfamily_Fibronectin_type3		0.358	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	protein_coding	OTTHUMT00000025202.2	C	NM_001559	-		67804363	+1	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	SNP	1.000	A
AMY2B	280	genome.wustl.edu	37	1	104116343	104116343	+	Missense_Mutation	SNP	G	G	A	rs144281226	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:104116343G>A	ENST00000361355.4	+	6	1143	c.527G>A	c.(526-528)cGt>cAt	p.R176H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	176					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGATTGTCGTCTGGTTGGT	0.363													.|||	2	0.000399361	0.0008	0.0	5008	,	,		18863	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000240038	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	358.0	346.0	350.0		527	3.8	0.5	1	dbSNP_134	350	0,8600		0,0,4300	yes	missense	AMY2B	NM_020978.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	176/512	104116343	4,13002	2203	4300	6503	AMY2B	SO:0001583	missense	0			GMAF=0.0005	HGNC	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.527G>A	1.37:g.104116343G>A	ENSP00000354610:p.Arg176His	Somatic	0	209	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	79	167	32.11	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	66	0.00	0	69	33.96	36	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R176H	ENST00000361355.4	37	c.527	CCDS782.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.0	4.078899	0.76528	9.08E-4	0.0	ENSG00000240038	ENST00000361355	D	0.98329	-4.87	4.74	3.82	0.43975	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.173696	0.51477	D	0.000097	D	0.98485	0.9495	M	0.91717	3.235	0.53005	D	0.999968	D	0.64830	0.994	P	0.59595	0.86	D	0.98837	1.0753	10	0.87932	D	0	.	9.2267	0.37412	0.1668:0.0:0.8332:0.0	.	176	P19961	AMY2B_HUMAN	H	176	ENSP00000354610:R176H	ENSP00000354610:R176H	R	+	2	0	AMY2B	103917866	1.000000	0.71417	0.508000	0.27688	0.997000	0.91878	4.886000	0.63149	1.005000	0.39183	0.644000	0.83932	CGT	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	protein_coding	OTTHUMT00000030318.1	G	NM_020978	rs144281226		104116343	+1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	SNP	0.991	A
KLK5	25818	genome.wustl.edu	37	19	51452260	51452260	+	Silent	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:51452260G>T	ENST00000336334.3	-	4	799	c.447C>A	c.(445-447)ggC>ggA	p.G149G	CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.G149G|KLK5_ENST00000593428.1_Silent_p.G149G	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGTTAGAGTGGCCAGGGTGGG	0.532																																																	0								ENSG00000167754						91.0	94.0	93.0					19																	51452260		2203	4300	6503	KLK5	SO:0001819	synonymous_variant	0			-	HGNC	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.447C>A	19.37:g.51452260G>T		Somatic	0	24	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q53ZR3|Q9HBG8	Silent	SNP	16	0.00	0	26	0.00	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G149	ENST00000336334.3	37	c.447	CCDS12810.1	19																																																																																			-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.532	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	protein_coding	OTTHUMT00000465057.1	G	NM_012427	-		51452260	-1	no_errors	ENST00000336334	ensembl	human	known	74_37	silent	SNP	0.601	T
ITGA7	3679	genome.wustl.edu	37	12	56081767	56081767	+	Silent	SNP	C	C	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:56081767C>T	ENST00000555728.1	-	25	3331	c.3303G>A	c.(3301-3303)ctG>ctA	p.L1101L	ITGA7_ENST00000347027.6_Silent_p.L1051L|ITGA7_ENST00000257879.6_Silent_p.L1057L|ITGA7_ENST00000257880.7_Silent_p.L1101L|ITGA7_ENST00000553804.1_Silent_p.L1061L|ITGA7_ENST00000394230.2_Silent_p.L1061L|ITGA7_ENST00000394229.2_Silent_p.L1057L|ITGA7_ENST00000452168.2_Silent_p.L964L			Q13683	ITA7_HUMAN	integrin, alpha 7	1101					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCACAGGAGCAGCACCAGCA	0.592																																																	0								ENSG00000135424						104.0	106.0	105.0					12																	56081767		2203	4300	6503	ITGA7	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3303G>A	12.37:g.56081767C>T		Somatic	0	36	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	18	0.00	0	14	50.00	15	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L1101	ENST00000555728.1	37	c.3303		12																																																																																			-	prints_Integrin_alpha		0.592	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	protein_coding	OTTHUMT00000410138.1	C	NM_002206	-		56081767	-1	no_errors	ENST00000555728	ensembl	human	known	74_37	silent	SNP	0.999	T
TMEM59L	25789	genome.wustl.edu	37	19	18729058	18729058	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:18729058A>G	ENST00000600490.1	+	7	943	c.758A>G	c.(757-759)aAt>aGt	p.N253S	TMEM59L_ENST00000262817.3_Missense_Mutation_p.N253S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCACAGGACAATGACTTCCTC	0.637																																																	0								ENSG00000105696						69.0	50.0	57.0					19																	18729058		2203	4300	6503	TMEM59L	SO:0001583	missense	0			-	HGNC	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.758A>G	19.37:g.18729058A>G	ENSP00000470879:p.Asn253Ser	Somatic	0	33	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68		Missense_Mutation	SNP	15	0.00	0	17	39.29	11	pfam_Uncharacterised_TMEM59	p.N253S	ENST00000600490.1	37	c.758	CCDS12383.1	19	.	.	.	.	.	.	.	.	.	.	A	6.902	0.535909	0.13188	.	.	ENSG00000105696	ENST00000262817	T	0.39406	1.08	4.35	0.0668	0.14363	.	0.446028	0.24472	N	0.038223	T	0.10035	0.0246	N	0.00707	-1.245	0.23550	N	0.997436	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.14656	T	0.56	-4.8454	3.8407	0.08912	0.5542:0.1824:0.2633:0.0	.	253	Q9UK28	TM59L_HUMAN	S	253	ENSP00000262817:N253S	ENSP00000262817:N253S	N	+	2	0	TMEM59L	18590058	0.054000	0.20591	0.700000	0.30305	0.761000	0.43186	1.772000	0.38552	0.078000	0.16900	-0.441000	0.05720	AAT	-	pfam_Uncharacterised_TMEM59		0.637	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	protein_coding	OTTHUMT00000465143.2	A		-		18729058	+1	no_errors	ENST00000262817	ensembl	human	known	74_37	missense	SNP	0.870	G
BRWD1	54014	genome.wustl.edu	37	21	40668281	40668281	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr21:40668281G>T	ENST00000333229.2	-	6	685	c.358C>A	c.(358-360)Cac>Aac	p.H120N	BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.H120N|BRWD1_ENST00000342449.3_Missense_Mutation_p.H120N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAAACTGTGTGCCTGCAGTCT	0.368																																					Melanoma(170;988 1986 4794 16843 39731)												0								ENSG00000185658						87.0	89.0	88.0					21																	40668281		2203	4300	6503	BRWD1	SO:0001583	missense	0			-	HGNC	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.358C>A	21.37:g.40668281G>T	ENSP00000330753:p.His120Asn	Somatic	0	26	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	31	0.00	0	31	0.00	0	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.H120N	ENST00000333229.2	37	c.358	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193466	0.22037	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16324	2.35;2.35;2.35	5.94	4.07	0.47477	.	0.133086	0.50627	D	0.000111	T	0.08403	0.0209	N	0.11927	0.2	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.23013	-1.0200	10	0.12103	T	0.63	-7.5662	10.1267	0.42654	0.0:0.1133:0.6338:0.2529	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	120	ENSP00000330753:H120N;ENSP00000344333:H120N;ENSP00000370178:H120N	ENSP00000330753:H120N	H	-	1	0	BRWD1	39590151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	2.820000	0.97059	0.650000	0.86243	CAC	-	NULL		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	protein_coding	OTTHUMT00000141398.3	G	NM_033656	-		40668281	-1	no_errors	ENST00000333229	ensembl	human	known	74_37	missense	SNP	1.000	T
FHOD1	29109	genome.wustl.edu	37	16	67272337	67272337	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr16:67272337G>T	ENST00000258201.4	-	4	634	c.387C>A	c.(385-387)agC>agA	p.S129R		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532																																																	0								ENSG00000135723						65.0	63.0	64.0					16																	67272337		2198	4300	6498	FHOD1	SO:0001583	missense	0			-	HGNC	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.387C>A	16.37:g.67272337G>T	ENSP00000258201:p.Ser129Arg	Somatic	0	19	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	26	0.00	0	37	0.00	0	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.S129R	ENST00000258201.4	37	c.387	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	6.087	0.384407	0.11524	.	.	ENSG00000135723	ENST00000258201	T	0.21031	2.03	5.02	-1.21	0.09524	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.230378	0.42053	D	0.000775	T	0.09379	0.0231	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14200	-1.0481	10	0.37606	T	0.19	.	6.0162	0.19605	0.3756:0.0:0.4967:0.1277	.	129	Q9Y613	FHOD1_HUMAN	R	129	ENSP00000258201:S129R	ENSP00000258201:S129R	S	-	3	2	FHOD1	65829838	1.000000	0.71417	0.913000	0.36048	0.062000	0.15995	2.333000	0.43912	-0.048000	0.13401	-0.794000	0.03295	AGC	-	superfamily_ARM-type_fold		0.532	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	protein_coding	OTTHUMT00000268844.2	G		-		67272337	-1	no_errors	ENST00000258201	ensembl	human	known	74_37	missense	SNP	0.996	T
SLAMF6	114836	genome.wustl.edu	37	1	160460928	160460928	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:160460928C>G	ENST00000368057.3	-	3	693	c.633G>C	c.(631-633)caG>caC	p.Q211H	SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100H|SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q211H			Q96DU3	SLAF6_HUMAN	SLAM family member 6	211						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CGCAAAGCTTCTGGGCAGAGA	0.507																																																	0								ENSG00000162739						80.0	82.0	81.0					1																	160460928		2203	4300	6503	SLAMF6	SO:0001583	missense	0			-	HGNC	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.633G>C	1.37:g.160460928C>G	ENSP00000357036:p.Gln211His	Somatic	0	44	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	32	25.58	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	25	0.00	0	26	42.22	19	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Q211H	ENST00000368057.3	37	c.633	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107888	0.20714	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.38560	1.13;1.13;1.13	4.37	2.29	0.28610	.	0.843244	0.10443	N	0.674062	T	0.46210	0.1381	M	0.82056	2.57	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0;0.997	D;D;P;P;D;D	0.77004	0.979;0.989;0.872;0.872;0.957;0.922	T	0.19484	-1.0304	10	0.45353	T	0.12	-0.2907	5.18	0.15156	0.0:0.669:0.2029:0.1282	.	100;100;162;211;211;211	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	H	211;211;100	ENSP00000357038:Q211H;ENSP00000357036:Q211H;ENSP00000357034:Q100H	ENSP00000357034:Q100H	Q	-	3	2	SLAMF6	158727552	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.170000	0.16663	0.473000	0.27368	0.655000	0.94253	CAG	-	NULL		0.507	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	protein_coding	OTTHUMT00000059010.1	C	NM_052931	-		160460928	-1	no_errors	ENST00000368057	ensembl	human	known	74_37	missense	SNP	0.000	G
ABCA13	154664	genome.wustl.edu	37	7	48556449	48556449	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:48556449G>A	ENST00000435803.1	+	52	13793	c.13769G>A	c.(13768-13770)cGg>cAg	p.R4590Q	ABCA13_ENST00000544596.1_Missense_Mutation_p.R320Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4590					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTATGCCCCGGTTGCTAGCC	0.453																																																	0								ENSG00000179869						171.0	169.0	170.0					7																	48556449		1949	4151	6100	ABCA13	SO:0001583	missense	0			-	HGNC	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13769G>A	7.37:g.48556449G>A	ENSP00000411096:p.Arg4590Gln	Somatic	0	68	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	60	40.00	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	18	0.00	0	42	38.24	26	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4590Q	ENST00000435803.1	37	c.13769	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932587	0.73442	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87103	-2.0;-2.21;-2.17	5.35	4.47	0.54385	.	0.000000	0.45126	D	0.000395	D	0.91878	0.7429	M	0.75447	2.3	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.95;0.969;0.998	D	0.84538	0.0637	10	0.31617	T	0.26	.	11.4958	0.50408	0.083:0.0:0.917:0.0	.	320;2292;4590	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Q	4590;363;320	ENSP00000411096:R4590Q;ENSP00000391042:R363Q;ENSP00000442634:R320Q	ENSP00000391042:R363Q	R	+	2	0	ABCA13	48526995	0.756000	0.28383	0.391000	0.26233	0.958000	0.62258	4.222000	0.58580	1.242000	0.43836	0.655000	0.94253	CGG	-	NULL		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701	-		48556449	+1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	SNP	0.054	A
NLRP14	338323	genome.wustl.edu	37	11	7092514	7092514	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:7092514A>G	ENST00000299481.4	+	12	3603	c.3257A>G	c.(3256-3258)gAt>gGt	p.D1086G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1086					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGAAGAAGATGTGTCTTGG	0.368																																																	0								ENSG00000158077						128.0	122.0	124.0					11																	7092514		2201	4296	6497	NLRP14	SO:0001583	missense	0			-	HGNC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.3257A>G	11.37:g.7092514A>G	ENSP00000299481:p.Asp1086Gly	Somatic	0	51	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	Q7RTR6	Missense_Mutation	SNP	42	0.00	0	16	60.00	24	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D1086G	ENST00000299481.4	37	c.3257	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	A	7.920	0.738472	0.15574	.	.	ENSG00000158077	ENST00000299481	T	0.72282	-0.64	3.78	2.65	0.31530	.	0.902828	0.09296	N	0.821610	T	0.61887	0.2383	L	0.46157	1.445	0.09310	N	0.999998	B	0.18013	0.025	B	0.18263	0.021	T	0.54589	-0.8271	10	0.59425	D	0.04	.	5.654	0.17633	0.8766:0.0:0.1234:0.0	.	1086	Q86W24	NAL14_HUMAN	G	1086	ENSP00000299481:D1086G	ENSP00000299481:D1086G	D	+	2	0	NLRP14	7049090	0.945000	0.32115	0.479000	0.27329	0.345000	0.29048	0.202000	0.17295	0.831000	0.34780	0.533000	0.62120	GAT	-	NULL		0.368	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	protein_coding	OTTHUMT00000384551.1	A	NM_176822	-		7092514	+1	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	SNP	0.566	G
LUZP2	338645	genome.wustl.edu	37	11	25071591	25071591	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr11:25071591A>G	ENST00000336930.6	+	10	839	c.773A>G	c.(772-774)cAa>cGa	p.Q258R	LUZP2_ENST00000533227.1_Missense_Mutation_p.Q172R			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	258						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGCCTCAACAAAGTGCTTCT	0.348																																																	0								ENSG00000187398						82.0	82.0	82.0					11																	25071591		2203	4300	6503	LUZP2	SO:0001583	missense	0			-	HGNC	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.773A>G	11.37:g.25071591A>G	ENSP00000336817:p.Gln258Arg	Somatic	0	38	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	12	66.67	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	42	0.00	0	6	83.33	30	NULL	p.Q258R	ENST00000336930.6	37	c.773	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483158	0.26598	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.22945	1.93;1.93	5.24	2.66	0.31614	.	0.678056	0.14349	N	0.325214	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B;B	0.25667	0.131;0.131	B;B	0.28232	0.087;0.087	T	0.30822	-0.9965	10	0.11485	T	0.65	-0.1629	9.5201	0.39129	0.6632:0.3368:0.0:0.0	.	172;258	E9PN53;Q86TE4	.;LUZP2_HUMAN	R	258;172	ENSP00000336817:Q258R;ENSP00000432952:Q172R	ENSP00000336817:Q258R	Q	+	2	0	LUZP2	25028167	0.049000	0.20398	0.001000	0.08648	0.319000	0.28217	1.339000	0.33885	0.876000	0.35872	0.528000	0.53228	CAA	-	NULL		0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	protein_coding	OTTHUMT00000387861.1	A	NM_001009909	-		25071591	+1	no_errors	ENST00000336930	ensembl	human	known	74_37	missense	SNP	0.000	G
DMAP1	55929	genome.wustl.edu	37	1	44686023	44686023	+	Intron	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:44686023G>A	ENST00000372289.2	+	9	1607				DMAP1_ENST00000488433.1_Intron|DMAP1_ENST00000315913.5_Intron|DMAP1_ENST00000361745.6_Intron	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1						chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCCCTGCGAGTGAGCACA	0.602											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000178028						19.0	18.0	18.0					1																	44686023		2188	4260	6448	DMAP1	SO:0001627	intron_variant	0			-	HGNC	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1344+42G>A	1.37:g.44686023G>A		Somatic	0	19	0.00	925	0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	RNA	SNP	18	0.00	0	25	32.43	12	-	NULL	ENST00000372289.2	37	NULL	CCDS509.1	1																																																																																			-	-		0.602	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	protein_coding	OTTHUMT00000020027.3	G	NM_019100	-		44686023	+1	no_errors	ENST00000494092	ensembl	human	known	74_37	rna	SNP	0.000	A
S100A5	6276	genome.wustl.edu	37	1	153512667	153512667	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:153512667T>C	ENST00000368718.1	-	3	282	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	S100A5_ENST00000359215.1_Missense_Mutation_p.M19V|S100A5_ENST00000368717.2_Start_Codon_SNP_p.M1V	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	1						neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGTCTCCATCACAGTGTGC	0.542																																																	0								ENSG00000196420						141.0	122.0	128.0					1																	153512667		2203	4300	6503	S100A5	SO:0001582	initiator_codon_variant	0			-	HGNC	Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10495	protein-coding gene	gene with protein product		176991	"""S100 calcium-binding protein A5"""	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.1A>G	1.37:g.153512667T>C	ENSP00000357707:p.Met1Val	Somatic	0	47	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	38	37.70	Q52LE7|Q5RHS3	Missense_Mutation	SNP	22	0.00	0	30	23.08	9	pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom	p.M19V	ENST00000368718.1	37	c.55	CCDS1041.2	1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078302	0.36662	.	.	ENSG00000196420	ENST00000368718;ENST00000359215;ENST00000368717	T;T;T	0.28255	1.62;3.39;1.62	4.95	2.56	0.30785	.	1.332140	0.04456	N	0.373605	T	0.11495	0.0280	.	.	.	0.31428	N	0.67352	B	0.25667	0.131	B	0.25140	0.058	T	0.10382	-1.0632	9	0.49607	T	0.09	.	9.2108	0.37318	0.0:0.0:0.3566:0.6434	.	19	Q52LE7	.	V	1;19;1	ENSP00000357707:M1V;ENSP00000352148:M19V;ENSP00000357706:M1V	ENSP00000352148:M19V	M	-	1	0	S100A5	151779291	0.993000	0.37304	0.717000	0.30585	0.260000	0.26232	2.712000	0.47186	0.340000	0.23745	0.533000	0.62120	ATG	-	NULL		0.542	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A5	protein_coding	OTTHUMT00000037719.1	T	NM_002962	-	Missense_Mutation	153512667	-1	no_errors	ENST00000359215	ensembl	human	known	74_37	missense	SNP	0.722	C
TDRD6	221400	genome.wustl.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																																	0								ENSG00000180113																																			TDRD6	SO:0001589	frameshift_variant	0				HGNC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs	Somatic	0	21	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	38	2.56	1	58	1.69	1	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.M1520fs	ENST00000316081.6	37	c.4549_4550	CCDS34470.1	6																																																																																			-	pfam_Tudor		0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	-	XM_166443			46660415	+1	no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_ins	INS	0.002:0.009	A
TBC1D9B	23061	genome.wustl.edu	37	5	179300189	179300189	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr5:179300189G>A	ENST00000356834.3	-	13	2283	c.2246C>T	c.(2245-2247)gCc>gTc	p.A749V	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.A749V|TBC1D9B_ENST00000519746.1_5'Flank|TBC1D9B_ENST00000444477.2_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	749						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCAGCAAGGCACGGAGGTG	0.572																																																	0								ENSG00000197226						71.0	67.0	69.0					5																	179300189		2203	4300	6503	TBC1D9B	SO:0001583	missense	0			-	HGNC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2246C>T	5.37:g.179300189G>A	ENSP00000349291:p.Ala749Val	Somatic	0	29	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	13	0.00	0	24	50.00	24	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.A749V	ENST00000356834.3	37	c.2246	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221234	0.79464	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.10099	2.91;2.99	4.64	4.64	0.57946	Rab-GAP/TBC domain (1);	0.061244	0.64402	D	0.000004	T	0.19406	0.0466	M	0.69823	2.125	0.80722	D	1	P;P;B	0.41131	0.621;0.739;0.435	B;B;B	0.41988	0.205;0.372;0.157	T	0.03202	-1.1061	10	0.62326	D	0.03	-27.8531	17.8925	0.88877	0.0:0.0:1.0:0.0	.	749;749;749	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	V	749	ENSP00000349291:A749V;ENSP00000347375:A749V	ENSP00000347375:A749V	A	-	2	0	TBC1D9B	179232795	1.000000	0.71417	0.993000	0.49108	0.252000	0.25951	9.715000	0.98748	2.292000	0.77174	0.561000	0.74099	GCC	-	superfamily_Rab-GTPase-TBC_dom		0.572	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	protein_coding	OTTHUMT00000253501.3	G	NM_015043	-		179300189	-1	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	SNP	1.000	A
AGMAT	79814	genome.wustl.edu	37	1	15913149	15913167	+	5'Flank	DEL	AGCCTCCACTCTGGAGTGG	AGCCTCCACTCTGGAGTGG	-	rs143510625|rs534822192|rs71572167	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	AGCCTCCACTCTGGAGTGG	AGCCTCCACTCTGGAGTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:15913149_15913167delAGCCTCCACTCTGGAGTGG	ENST00000375826.3	-	0	0				DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)						agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCACTCCAGCCTCCACTCTGGAGTGGAGCCTCCACT	0.511														1687	0.336861	0.2663	0.3084	5008	,	,		16171	0.5794		0.2952	False		,,,				2504	0.2454				NSCLC(126;1678 1780 25805 43508 49531)												0								ENSG00000237301																																			RP4-680D5.2	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357		1.37:g.15913149_15913167delAGCCTCCACTCTGGAGTGG	Exception_encountered	Somatic	NA	NA	NA		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5TDH1|Q9H5J3	RNA	DEL	1	90.91	10	15	61.54	24	-	NULL	ENST00000375826.3	37	NULL	CCDS160.1	1																																																																																			-	-		0.511	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237301	protein_coding	OTTHUMT00000006763.1	AGCCTCCACTCTGGAGTGG	NM_024758			15913167	-1	no_errors	ENST00000428945	ensembl	human	known	74_37	rna	DEL	0.026:0.032:0.033:0.037:0.044:0.067:0.106:0.115:0.114:0.102:0.095:0.070:0.067:0.067:0.067:0.066:0.065:0.064:0.062	-
EMB	133418	genome.wustl.edu	37	5	49723998	49723998	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr5:49723998C>T	ENST00000303221.5	-	2	391	c.176G>A	c.(175-177)aGt>aAt	p.S59N	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.S59N|EMB_ENST00000514111.1_Missense_Mutation_p.S9N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	59					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TATGTTATGACTCTCCAAGGA	0.323																																																	0								ENSG00000170571						119.0	118.0	119.0					5																	49723998		2203	4300	6503	EMB	SO:0001583	missense	0			-	HGNC	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.176G>A	5.37:g.49723998C>T	ENSP00000302289:p.Ser59Asn	Somatic	0	38	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	B7Z6S3|B7Z902	Missense_Mutation	SNP	55	0.00	0	73	0.00	0	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S59N	ENST00000303221.5	37	c.176	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440435	0.12104	.	.	ENSG00000170571	ENST00000303221;ENST00000508934;ENST00000514111	T;T;T	0.55760	0.82;0.5;0.88	4.43	-3.72	0.04411	.	1.552400	0.03756	N	0.257290	T	0.37679	0.1012	N	0.24115	0.695	0.09310	N	0.999994	B;B	0.33694	0.421;0.421	B;B	0.35470	0.203;0.203	T	0.25363	-1.0134	9	.	.	.	-0.4683	8.9905	0.36022	0.4631:0.195:0.3418:0.0	.	59;59	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	59;59;9	ENSP00000302289:S59N;ENSP00000425215:S59N;ENSP00000426404:S9N	.	S	-	2	0	EMB	49759755	0.035000	0.19736	0.285000	0.24819	0.105000	0.19272	-1.758000	0.01810	-0.801000	0.04427	-0.182000	0.12963	AGT	-	NULL		0.323	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	protein_coding	OTTHUMT00000253853.1	C	NM_198449	-		49723998	-1	no_errors	ENST00000303221	ensembl	human	known	74_37	missense	SNP	0.350	T
KMT2E	55904	genome.wustl.edu	37	7	104745892	104745892	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:104745892G>T	ENST00000311117.3	+	18	2748	c.2203G>T	c.(2203-2205)Gtt>Ttt	p.V735F	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.V735F|KMT2E_ENST00000334877.4_Missense_Mutation_p.V735F|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	735					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTAGCACTTGGTTAATGAATG	0.343																																																	0								ENSG00000005483						54.0	56.0	55.0					7																	104745892		2203	4300	6503	KMT2E	SO:0001583	missense	0			-	HGNC	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2203G>T	7.37:g.104745892G>T	ENSP00000312379:p.Val735Phe	Somatic	0	28	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.30	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	53	0.00	0	63	0.00	0	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.V735F	ENST00000311117.3	37	c.2203	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728372	0.69074	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95137	-3.62;-3.15;-3.62	6.04	6.04	0.98038	.	0.052524	0.85682	D	0.000000	D	0.95768	0.8623	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.55161	0.77	D	0.95576	0.8642	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	735	Q8IZD2	MLL5_HUMAN	F	735;735;735;655;735	ENSP00000312379:V735F;ENSP00000335599:V735F;ENSP00000257745:V735F	ENSP00000257745:V735F	V	+	1	0	MLL5	104533128	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.230000	0.95299	2.873000	0.98535	0.561000	0.74099	GTT	-	NULL		0.343	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	protein_coding	OTTHUMT00000348697.1	G		-		104745892	+1	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	SNP	1.000	T
XPOT	11260	genome.wustl.edu	37	12	64823969	64823969	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:64823969G>T	ENST00000332707.5	+	17	2407	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	626	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CACTAATGGAGAAGTTTAAAA	0.393																																																	0								ENSG00000184575						64.0	64.0	64.0					12																	64823969		2203	4300	6503	XPOT	SO:0001583	missense	0			-	HGNC	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1878G>T	12.37:g.64823969G>T	ENSP00000327821:p.Glu626Asp	Somatic	0	34	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	23	45.45	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	34	0.00	0	33	45.90	28	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E626D	ENST00000332707.5	37	c.1878	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995759	0.35226	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.30448	1.53;1.53	5.28	1.1	0.20463	Armadillo-like helical (1);Armadillo-type fold (1);	0.103063	0.64402	D	0.000004	T	0.15998	0.0385	N	0.17082	0.46	0.47862	D	0.999532	B	0.06786	0.001	B	0.01281	0.0	T	0.10177	-1.0641	9	.	.	.	.	10.3553	0.43960	0.4458:0.0:0.5542:0.0	.	626	O43592	XPOT_HUMAN	D	626;148	ENSP00000327821:E626D;ENSP00000444345:E148D	.	E	+	3	2	XPOT	63110236	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.253000	0.21552	0.650000	0.86243	GAG	-	superfamily_ARM-type_fold		0.393	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	protein_coding	OTTHUMT00000401122.1	G	NM_007235	-		64823969	+1	no_errors	ENST00000332707	ensembl	human	known	74_37	missense	SNP	0.996	T
OBP2A	29991	genome.wustl.edu	37	9	138441695	138441695	+	3'UTR	SNP	C	C	G			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr9:138441695C>G	ENST00000539850.1	+	0	817				OBP2A_ENST00000371776.1_3'UTR|OBP2A_ENST00000340780.3_Missense_Mutation_p.L198V|OBP2A_ENST00000342114.4_3'UTR			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A						response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCCCCGGGTCTGCACCTCCA	0.672																																																	0								ENSG00000122136																																			OBP2A	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.*278C>G	9.37:g.138441695C>G		Somatic	0	127	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	119	8.46	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	18	0.00	0	27	3.57	1	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.L198V	ENST00000539850.1	37	c.592	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	c	3.089	-0.187239	0.06299	.	.	ENSG00000122136	ENST00000340780	T	0.32515	1.45	1.66	-0.599	0.11645	.	2.128390	0.02809	N	0.124076	T	0.21550	0.0519	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.13407	0.009	T	0.25012	-1.0144	9	0.87932	D	0	0.1187	3.0768	0.06249	0.0:0.522:0.2839:0.1941	.	198	Q5T8A5	.	V	198	ENSP00000342097:L198V	ENSP00000342097:L198V	L	+	1	2	OBP2A	137581516	0.004000	0.15560	0.001000	0.08648	0.202000	0.24057	0.324000	0.19610	-0.141000	0.11374	0.299000	0.19835	CTG	-	NULL		0.672	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	protein_coding	OTTHUMT00000397904.1	C	NM_014582	-		138441695	+1	no_errors	ENST00000340780	ensembl	human	known	74_37	missense	SNP	0.008	G
RPL30	6156	genome.wustl.edu	37	8	99054836	99054837	+	Intron	INS	-	-	A	rs3073528|rs143116921|rs56899568		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr8:99054836_99054837insA	ENST00000521291.1	-	3	445				RPL30_ENST00000287038.3_Intron|RPL30_ENST00000396070.2_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			ATTAGAAAGGCAAAAAAAAAAA	0.361																																																	0								ENSG00000245970																																			KB-1208A12.3	SO:0001627	intron_variant	0				Clone_based_vega_gene		CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+35->T	8.37:g.99054847_99054847dupA		Somatic	0	13	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	22	38.89	B2R591|P04645|Q502Z6	RNA	INS	27	27.03	10	46	24.59	15	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																			-	-		0.361	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	protein_coding	OTTHUMT00000380450.1	-				99054837	+1	no_errors	ENST00000501016	ensembl	human	known	74_37	rna	INS	0.001:0.049	A
ADAM33	80332	genome.wustl.edu	37	20	3652874	3652874	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:3652874G>C	ENST00000356518.2	-	14	1745	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	ADAM33_ENST00000350009.2_Missense_Mutation_p.L502V|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.L502V	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	502	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAGCCGTCCAGTAGGTAAACG	0.662																																																	0								ENSG00000149451						64.0	63.0	64.0					20																	3652874		2203	4300	6503	ADAM33	SO:0001583	missense	0			-	HGNC	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1504C>G	20.37:g.3652874G>C	ENSP00000348912:p.Leu502Val	Somatic	0	41	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	34	32.00	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	12	0.00	0	26	44.68	21	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L502V	ENST00000356518.2	37	c.1504	CCDS13058.1	20	.	.	.	.	.	.	.	.	.	.	g	16.34	3.094967	0.56075	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.01495	4.83;4.83;4.87	4.54	3.59	0.41128	ADAM, cysteine-rich (1);Blood coagulation inhibitor, Disintegrin (2);	.	.	.	.	T	0.04182	0.0116	L	0.31294	0.92	0.48087	D	0.999584	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.974;0.974	T	0.62553	-0.6830	9	0.15499	T	0.54	.	11.5115	0.50496	0.0888:0.0:0.9112:0.0	.	502;502;502	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	V	502;502;502;382	ENSP00000348912:L502V;ENSP00000369190:L502V;ENSP00000322550:L502V	ENSP00000322550:L502V	L	-	1	2	ADAM33	3600874	0.991000	0.36638	0.822000	0.32727	0.681000	0.39784	2.128000	0.42045	1.132000	0.42129	0.457000	0.33378	CTG	-	superfamily_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin		0.662	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	protein_coding	OTTHUMT00000077763.2	G	NM_025220	-		3652874	-1	no_errors	ENST00000356518	ensembl	human	known	74_37	missense	SNP	0.998	C
ZNFX1	57169	genome.wustl.edu	37	20	47895155	47895155	+	5'Flank	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:47895155G>A	ENST00000396105.1	-	0	0				ZFAS1_ENST00000326677.5_RNA|ZNFX1_ENST00000371754.4_5'Flank|ZNFX1_ENST00000371752.1_5'Flank|ZFAS1_ENST00000428008.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000417721.1_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000450535.1_RNA|ZFAS1_ENST00000458653.1_RNA|SNORD12C_ENST00000386307.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTATATAAGGGAGGTTCAG	0.572																																																	0								ENSG00000177410																																			ZFAS1	SO:0001631	upstream_gene_variant	0			-	HGNC	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696		20.37:g.47895155G>A	Exception_encountered	Somatic	0	64	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	RNA	SNP	20	0.00	0	18	50.00	18	-	NULL	ENST00000396105.1	37	NULL	CCDS13417.1	20																																																																																			-	-		0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAS1	protein_coding	OTTHUMT00000079647.2	G	NM_021035	-		47895155	+1	no_errors	ENST00000371743	ensembl	human	known	74_37	rna	SNP	0.537	A
SMG6	23293	genome.wustl.edu	37	17	2203218	2203218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr17:2203218C>A	ENST00000263073.6	-	2	879	c.829G>T	c.(829-831)Gga>Tga	p.G277*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.G246*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	277	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGCGACATCCATTATCCGTC	0.577																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						63.0	57.0	59.0					17																	2203218		2203	4300	6503	SMG6	SO:0001587	stop_gained	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.829G>T	17.37:g.2203218C>A	ENSP00000263073:p.Gly277*	Somatic	0	59	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	33	50.75	B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	22	0.00	0	10	56.52	13	pfam_EST1,smart_PIN_dom	p.G277*	ENST00000263073.6	37	c.829	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.316027	0.99135	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	0.266889	0.37178	N	0.002211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.7399	18.0448	0.89329	0.0:1.0:0.0:0.0	.	.	.	.	X	277;246	.	ENSP00000263073:G277X	G	-	1	0	SMG6	2149968	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	1.447000	0.35101	2.490000	0.84030	0.655000	0.94253	GGA	-	NULL		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	C		-		2203218	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	nonsense	SNP	1.000	A
FLT3	2322	genome.wustl.edu	37	13	28608485	28608485	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr13:28608485G>T	ENST00000241453.7	-	13	1738	c.1657C>A	c.(1657-1659)Ctc>Atc	p.L553I	FLT3_ENST00000537084.1_Missense_Mutation_p.L553I|FLT3_ENST00000380982.4_Missense_Mutation_p.L553I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	553					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAATGAAGAGGAGACAAACA	0.393			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0								ENSG00000122025						103.0	95.0	98.0					13																	28608485		2203	4300	6503	FLT3	SO:0001583	missense	0			-	HGNC	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1657C>A	13.37:g.28608485G>T	ENSP00000241453:p.Leu553Ile	Somatic	0	35	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	36	0.00	0	24	0.00	0	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L553I	ENST00000241453.7	37	c.1657	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	7.963	0.747464	0.15710	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.80653	-1.33;-1.4;-1.12	5.83	5.83	0.93111	.	0.287636	0.30483	N	0.009528	T	0.75184	0.3815	L	0.43152	1.355	0.24994	N	0.991511	B;B	0.16802	0.019;0.011	B;B	0.14578	0.011;0.005	T	0.58346	-0.7652	10	0.19147	T	0.46	.	18.3013	0.90164	0.0:0.0:1.0:0.0	.	553;553	P36888-2;P36888	.;FLT3_HUMAN	I	553	ENSP00000241453:L553I;ENSP00000370369:L553I;ENSP00000438139:L553I	ENSP00000241453:L553I	L	-	1	0	FLT3	27506485	1.000000	0.71417	0.788000	0.31933	0.682000	0.39822	3.566000	0.53805	2.758000	0.94735	0.655000	0.94253	CTC	-	NULL		0.393	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	G		-		28608485	-1	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	SNP	0.599	T
FUT1	2523	genome.wustl.edu	37	19	49253926	49253926	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:49253926C>T	ENST00000310160.3	-	4	1587	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	205					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGTGCGGCCCAGGCGGAGC	0.652																																																	0								ENSG00000174951						80.0	83.0	82.0					19																	49253926		2201	4298	6499	FUT1	SO:0001583	missense	0			-	HGNC		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.613G>A	19.37:g.49253926C>T	ENSP00000312021:p.Gly205Ser	Somatic	0	14	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	O14505|O14506|O14507	Missense_Mutation	SNP	20	0.00	0	3	88.46	23	pfam_Glyco_trans_11	p.G205S	ENST00000310160.3	37	c.613	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731693	0.15507	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96396	-4.0	4.54	-2.39	0.06602	.	0.819662	0.10706	N	0.643486	D	0.92001	0.7466	L	0.60455	1.87	0.09310	N	1	B	0.31655	0.334	B	0.32677	0.15	T	0.83109	-0.0124	10	0.28530	T	0.3	-19.2084	1.6033	0.02679	0.1401:0.2384:0.386:0.2355	.	205	P19526	FUT1_HUMAN	S	205;195	ENSP00000312021:G205S	ENSP00000312021:G205S	G	-	1	0	FUT1	53945738	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.118000	0.15605	-0.083000	0.12618	0.563000	0.77884	GGC	-	pfam_Glyco_trans_11		0.652	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	protein_coding	OTTHUMT00000466194.1	C	NM_000148	-		49253926	-1	no_errors	ENST00000310160	ensembl	human	known	74_37	missense	SNP	0.000	T
GPRIN3	285513	genome.wustl.edu	37	4	90170621	90170621	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr4:90170621G>A	ENST00000609438.1	-	2	1159	c.641C>T	c.(640-642)tCt>tTt	p.S214F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S214F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	214										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACCTACAGGAGAGGATGAGTG	0.507																																																	0								ENSG00000185477						63.0	61.0	62.0					4																	90170621		2203	4300	6503	GPRIN3	SO:0001583	missense	0			-	HGNC	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.641C>T	4.37:g.90170621G>A	ENSP00000476603:p.Ser214Phe	Somatic	0	54	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q8IVE4	Missense_Mutation	SNP	26	0.00	0	32	39.62	21	NULL	p.S214F	ENST00000609438.1	37	c.641	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539493	0.45176	.	.	ENSG00000185477	ENST00000333209	T	0.10960	2.82	5.15	2.39	0.29439	.	0.538685	0.14052	N	0.344654	T	0.10035	0.0246	N	0.24115	0.695	0.09310	N	1	D	0.53151	0.958	P	0.48627	0.584	T	0.19063	-1.0317	10	0.51188	T	0.08	-0.1805	7.4331	0.27139	0.1465:0.3058:0.5477:0.0	.	214	Q6ZVF9	GRIN3_HUMAN	F	214	ENSP00000328672:S214F	ENSP00000328672:S214F	S	-	2	0	GPRIN3	90389644	0.010000	0.17322	0.001000	0.08648	0.032000	0.12392	1.135000	0.31454	0.350000	0.24002	0.650000	0.86243	TCT	-	NULL		0.507	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	protein_coding	OTTHUMT00000363540.2	G	NM_198281	-		90170621	-1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	SNP	0.001	A
ZNF761	388561	genome.wustl.edu	37	19	53959188	53959188	+	RNA	SNP	G	G	A			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423																																																	0								ENSG00000160336						75.0	80.0	78.0					19																	53959188		2203	4300	6503	ZNF761			0			-	HGNC	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959188G>A		Somatic	0	34	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	18	73.13	Q6ZNB9	RNA	SNP	29	0.00	0	7	80.56	29	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			-	-		0.423	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	processed_transcript		G	NM_001008401	rs144532705		53959188	+1	no_errors	ENST00000334095	ensembl	human	known	74_37	rna	SNP	0.000	A
FAM151A	338094	genome.wustl.edu	37	1	55077385	55077385	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:55077385G>C	ENST00000302250.2	-	6	994	c.834C>G	c.(832-834)gaC>gaG	p.D278E	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.D278E	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	278						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGACATGGGGTCCGAGGCAG	0.597																																																	0								ENSG00000162391						103.0	93.0	96.0					1																	55077385		2203	4300	6503	FAM151A	SO:0001583	missense	0			-	HGNC	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.834C>G	1.37:g.55077385G>C	ENSP00000306888:p.Asp278Glu	Somatic	0	29	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	30	0.00	0	15	48.28	14	pfam_DUF2181	p.D278E	ENST00000302250.2	37	c.834	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742674	0.49151	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.20200	2.09;2.09	4.59	1.53	0.23141	.	0.130629	0.49916	N	0.000135	T	0.36991	0.0987	M	0.79693	2.465	0.47123	D	0.99932	D	0.71674	0.998	D	0.69654	0.965	T	0.20240	-1.0281	10	0.66056	D	0.02	-33.2705	0.8409	0.01149	0.2562:0.1699:0.3992:0.1746	.	278	Q8WW52	F151A_HUMAN	E	278	ENSP00000306888:D278E;ENSP00000360353:D278E	ENSP00000294370:D278E	D	-	3	2	FAM151A	54849973	0.999000	0.42202	0.534000	0.28014	0.390000	0.30446	0.473000	0.22132	0.215000	0.20761	0.655000	0.94253	GAC	-	pfam_DUF2181		0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	protein_coding	OTTHUMT00000027342.1	G	NM_176782	-		55077385	-1	no_errors	ENST00000302250	ensembl	human	known	74_37	missense	SNP	0.997	C
CEP350	9857	genome.wustl.edu	37	1	179989287	179989287	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:179989287delC	ENST00000367607.3	+	12	2796	c.2378delC	c.(2377-2379)actfs	p.T793fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000135837						104.0	106.0	105.0					1																	179989287		2203	4300	6503	CEP350	SO:0001589	frameshift_variant	0				HGNC	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2378delC	1.37:g.179989287delC	ENSP00000356579:p.Thr793fs	Somatic	0	12	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	9	57.14	O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	36	0.00	0	6	80.65	25	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.T793fs	ENST00000367607.3	37	c.2378	CCDS1336.1	1																																																																																			-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	C	NM_014810			179989287	+1	no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	DEL	0.983	-
MGA	23269	genome.wustl.edu	37	15	42058229	42058229	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr15:42058229G>T	ENST00000570161.1	+	23	7949	c.7949G>T	c.(7948-7950)cGa>cTa	p.R2650L	MGA_ENST00000566586.1_Missense_Mutation_p.R2441L|MGA_ENST00000389936.4_Missense_Mutation_p.R2611L|MGA_ENST00000219905.7_Missense_Mutation_p.R2650L|MGA_ENST00000545763.1_Missense_Mutation_p.R2441L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2699Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGATGCCACGAATTGTTAAT	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000174197						88.0	82.0	84.0					15																	42058229		1838	4095	5933	MGA	SO:0001583	missense	0			-	HGNC	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7949G>T	15.37:g.42058229G>T	ENSP00000457035:p.Arg2650Leu	Somatic	0	25	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	36	5.26	2	61	0.00	0	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R2650L	ENST00000570161.1	37	c.7949	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728570	0.69074	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86097	-2.04;-2.06;-2.07	5.08	5.08	0.68730	.	1.089600	0.07268	N	0.868563	D	0.85682	0.5753	N	0.19112	0.55	0.26953	N	0.965981	D;D	0.65815	0.995;0.992	P;P	0.62382	0.901;0.799	T	0.75042	-0.3457	10	0.87932	D	0	.	9.2136	0.37333	0.1625:0.0:0.8375:0.0	.	2441;2650	F5H7K2;E7ENI0	.;.	L	2650;2611;2441	ENSP00000219905:R2650L;ENSP00000374586:R2611L;ENSP00000442467:R2441L	ENSP00000219905:R2650L	R	+	2	0	MGA	39845521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.563000	0.53784	2.793000	0.96121	0.655000	0.94253	CGA	-	NULL		0.363	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1	-		42058229	+1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	1.000	T
NKAIN2	154215	genome.wustl.edu	37	6	124979412	124979412	+	Silent	SNP	G	G	A	rs142736368	byFrequency	TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr6:124979412G>A	ENST00000368417.1	+	4	414	c.354G>A	c.(352-354)acG>acA	p.T118T	NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000545433.1_Silent_p.T103T|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000188580	G	,	7,4399	12.9+/-30.5	0,7,2196	164.0	139.0	147.0		354,	-6.1	1.0	6	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous,intron	NKAIN2	NM_001040214.1,NM_153355.3	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	118/209,	124979412	7,12999	2203	4300	6503	NKAIN2	SO:0001819	synonymous_variant	0			-	HGNC	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.354G>A	6.37:g.124979412G>A		Somatic	0	37	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	Q8IYR4|Q8TF67	Silent	SNP	17	0.00	0	29	28.57	12	pfam_Na/K-Atpase_Interacting	p.T118	ENST00000368417.1	37	c.354	CCDS34526.1	6																																																																																			-	pfam_Na/K-Atpase_Interacting		0.488	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	protein_coding	OTTHUMT00000042057.1	G	NM_001040214	rs142736368		124979412	+1	no_errors	ENST00000368417	ensembl	human	known	74_37	silent	SNP	0.436	A
ATXN7L1	222255	genome.wustl.edu	37	7	105278824	105278824	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr7:105278824C>T	ENST00000419735.3	-	7	1223	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.R269K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	393	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						GTTGGGTGGTCTGGATTTTGC	0.527																																																	0								ENSG00000146776						128.0	111.0	116.0					7																	105278824		692	1591	2283	ATXN7L1	SO:0001583	missense	0			-	HGNC	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1178G>A	7.37:g.105278824C>T	ENSP00000410759:p.Arg393Lys	Somatic	0	40	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	24	0.00	0	26	10.34	3	pfam_SCA7_dom	p.R393K	ENST00000419735.3	37	c.1178	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250237	0.22880	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000472195	T;T;T	0.13657	2.59;2.57;2.58	5.38	4.5	0.54988	.	0.158931	0.43110	N	0.000616	T	0.11793	0.0287	N	0.04508	-0.205	0.80722	D	1	P;D;B	0.57257	0.932;0.979;0.0	P;P;B	0.60012	0.867;0.801;0.002	T	0.07443	-1.0772	10	0.02654	T	1	.	14.3076	0.66395	0.0:0.9282:0.0:0.0718	.	177;269;393	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	K	393;269;269	ENSP00000410759:R393K;ENSP00000418476:R269K;ENSP00000419566:R269K	ENSP00000410759:R393K	R	-	2	0	ATXN7L1	105066060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.679000	0.46909	1.405000	0.46838	0.655000	0.94253	AGA	-	NULL		0.527	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	protein_coding	OTTHUMT00000349037.2	C		-		105278824	-1	no_errors	ENST00000419735	ensembl	human	known	74_37	missense	SNP	1.000	T
ALG10	84920	genome.wustl.edu	37	12	34175490	34175490	+	5'UTR	SNP	A	A	T	rs202213425		TCGA-DX-A2J0-01A-11D-A21Q-09	TCGA-DX-A2J0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr12:34175490A>T	ENST00000266483.2	+	0	275				ALG10_ENST00000538927.1_5'UTR|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCAGGCTCAGAATTTTCCAGG	0.572																																																	0								ENSG00000245482						105.0	121.0	115.0					12																	34175490		2203	4300	6503	RP11-847H18.2	SO:0001623	5_prime_UTR_variant	0			-	Clone_based_vega_gene	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.-45A>T	12.37:g.34175490A>T		Somatic	0	97	0.00		0.6636602329056384	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	54	44.33	Q6NS98|Q96DU0|Q96SM6	RNA	SNP	23	0.00	0	14	60.00	21	-	NULL	ENST00000266483.2	37	NULL	CCDS41769.1	12																																																																																			-	-		0.572	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245482	protein_coding	OTTHUMT00000403309.1	A	NM_032834	-		34175490	-1	no_errors	ENST00000501954	ensembl	human	known	74_37	rna	SNP	0.000	T
