#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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)			ENSG00000179477																																					0			GRCh37	CM053750	ALOX12B	M							48.0	39.0	42.0					17																	7980435		2203	4300	6503	SO:0001583	missense	0			-	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			Missense_Mutation	SNP	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	-	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C		0.597	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	0	0	0	41	41	82	0.00	0.00	G			7980435	-1	21	29	24	54	tier1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	46.67	34.94	SNP	0.987	A	21	24
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	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000179397																																					0													221.0	175.0	189.0					1																	244780873		692	1589	2281	SO:0001583	missense	0			-	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		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	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	-	C1orf101	-	NULL		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	0	0	0	19	19	108	0.00	0.00	G	NM_173807		244780873	+1	22	29	65	174	tier1	no_errors	ENST00000366531	ensembl	human	known	74_37	missense	25.29	14.29	SNP	1.000	C	22	65
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	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000409273.1_Silent_p.D3238D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.D3460D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	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													ENSG00000163092																																					0													64.0	63.0	63.0					2																	168108282		1895	4125	6020	SO:0001819	synonymous_variant	0			-	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			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.D3460	ENST00000409195.1	37	c.10380	CCDS42769.1	2																																																																																			-	XIRP2	-	NULL		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0	0	18	18	81	0.00	0.00	T	NM_152381		168108282	+1	8	29	8	42	tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	50.00	40.28	SNP	1.000	C	8	8
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	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000162733																									NSCLC(161;314 2006 8283 19651 23192)												0													121.0	115.0	117.0					1																	162735847		2203	4300	6503	SO:0001583	missense	0			-	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		Q7Z730	Missense_Mutation	SNP	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	-	DDR2	-	NULL		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	0	0	0	27	27	110	0.00	0.00	A	NM_006182		162735847	+1	18	47	22	41	tier1	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	45.00	53.41	SNP	1.000	G	18	22
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000139304	C|||	1	0.000199681	0.0008	0.0	5008	,	,		17304	0.0		0.0	False		,,,				2504	0.0																0													238.0	202.0	213.0					12																	81025993		692	1591	2283	SO:0001819	synonymous_variant	0			GMAF=0.0005	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				Silent	SNP	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	rs138300863	PTPRQ	-	NULL		0.338	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		0	0	0	36	36	79	0.00	0.00	C	NM_001145026		81025993	+1	144	421	730	2092	tier1	no_errors	ENST00000266688	ensembl	human	known	74_37	silent	16.48	16.67	SNP	0.998	T	144	730
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	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000119523																																					0													136.0	131.0	133.0					9																	101980657		2203	4300	6503	SO:0001587	stop_gained	0			-	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*		B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Nonsense_Mutation	SNP	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	-	ALG2	-	pfam_Glyco_trans_1		0.473	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG2	HGNC	protein_coding	OTTHUMT00000215080.1	0	0	0	42	42	106	0.00	0.00	A	NM_033087		101980657	-1	12	35	24	58	tier1	no_errors	ENST00000476832	ensembl	human	known	74_37	nonsense	33.33	37.23	SNP	1.000	T	12	24
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	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000171102																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	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			Q5VSP6|Q9NY51|Q9NY52	R	SNP	-	NULL	ENST00000372034.3	37	NULL	CCDS6961.1	9																																																																																			-	OBP2B	-	-		0.677	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	0	0	0	62	62	44	0.00	0.00	G	NM_014581		136080786	-1	23	18	20	23	tier1	no_errors	ENST00000461961	ensembl	human	known	74_37	rna	53.49	43.90	SNP	0.004	C	23	20
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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*	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_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													ENSG00000187918	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)						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	SO:0001587	stop_gained	0			GMAF=0.0005	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*		Q6IF81	Nonsense_Mutation	SNP	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	rs145725236	OR51I2	-	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	HGNC	protein_coding	OTTHUMT00000143385.1	0	0	0	37	37	45	0.00	0.00	C	NM_001004754		5474866	+1	5	3	53	19	tier1	no_errors	ENST00000341449	ensembl	human	known	74_37	nonsense	8.62	13.64	SNP	0.002	T	5	53
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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)	ENSG00000100106																																					0													36.0	42.0	41.0					22																	38131066		1931	4105	6036	SO:0001583	missense	0			-	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	875	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	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	-	TRIOBP	-	NULL		0.687	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	0	0	0	35	35	24	0.00	0.00	G			38131066	+1	10	12	14	13	tier1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	41.67	48.00	SNP	0.040	A	10	14
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000125352																																					0													166.0	168.0	167.0					X																	119005266		2203	4300	6503	SO:0001583	missense	0			-	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		B2RBR7	Missense_Mutation	SNP	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	-	RNF113A	-	NULL		0.557	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	0	0	0	27	27	88	0.00	0.00	C	NM_006978		119005266	-1	10	28	22	61	tier1	no_errors	ENST00000371442	ensembl	human	known	74_37	missense	31.25	31.46	SNP	1.000	T	10	22
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000370903.3_Silent_p.P141P|IGSF1_ENST00000370900.1_Silent_p.P141P|IGSF1_ENST00000370901.4_Silent_p.P141P|IGSF1_ENST00000370910.1_Silent_p.P132P|IGSF1_ENST00000370904.1_Silent_p.P132P			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													ENSG00000147255																																					0													62.0	60.0	61.0					X																	130419397		2203	4299	6502	SO:0001819	synonymous_variant	0			-	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			B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P141	ENST00000361420.3	37	c.423	CCDS14629.1	X																																																																																			-	IGSF1	-	smart_Ig_sub		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	0	0	0	11	11	44	0.00	0.00	G			130419397	-1	5	31	4	47	tier1	no_errors	ENST00000370903	ensembl	human	known	74_37	silent	55.56	39.74	SNP	0.000	A	5	4
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000165471																																					0													81.0	91.0	87.0					10																	54530489		2203	4300	6503	SO:0001583	missense	0			-	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		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	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	-	MBL2	-	pfam_Collagen		0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	0	0	0	43	43	113	0.00	0.00	G	NM_000242		54530489	-1	22	48	34	59	tier1	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	39.29	44.86	SNP	0.910	A	22	34
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	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000167768																																					0													57.0	53.0	54.0					12																	53072523		2203	4300	6503	SO:0001583	missense	0			-	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		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	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	-	KRT1	-	pfam_IF		0.453	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	0	0	0	31	31	110	0.00	0.00	C	NM_006121		53072523	-1	20	48	33	77	tier1	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	37.74	38.40	SNP	1.000	A	20	33
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	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000241058																																					0													66.0	62.0	63.0					10																	18874990		2203	4300	6503	SO:0001583	missense	0			-	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		B0YJ54	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rR_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	-	NSUN6	-	pfam_Fmu/NOL1/Nop2p,pfam_rR_MeTrfase_FtsJ_dom		0.328	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	0	0	0	42	42	90	0.00	0.00	G	NM_182543		18874990	-1	13	11	38	84	tier1	no_errors	ENST00000377304	ensembl	human	known	74_37	missense	25.49	11.46	SNP	0.230	C	13	38
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	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000541374.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q339K|IL12RB2_ENST00000544434.1_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													ENSG00000081985																																					0													114.0	127.0	123.0					1																	67804363		2203	4300	6503	SO:0001583	missense	0			-	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		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	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	-	IL12RB2	-	superfamily_Fibronectin_type3		0.358	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	0	0	0	27	27	94	0.00	0.00	C	NM_001559		67804363	+1	21	26	13	41	tier1	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	61.76	38.81	SNP	1.000	A	21	13
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000240038	.|||	2	0.000399361	0.0008	0.0	5008	,	,		18863	0.001		0.0	False		,,,				2504	0.0																0								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	SO:0001583	missense	0			GMAF=0.0005	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		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	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	rs144281226	AMY2B	-	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	HGNC	protein_coding	OTTHUMT00000030318.1	0	0	0	209	209	60	0.00	0.00	G	NM_020978		104116343	+1	79	12	167	41	tier1	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	32.11	22.64	SNP	0.991	A	79	167
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000452168.2_Silent_p.L964L|ITGA7_ENST00000257879.6_Silent_p.L1057L|ITGA7_ENST00000553804.1_Silent_p.L1061L|ITGA7_ENST00000394230.2_Silent_p.L1061L|ITGA7_ENST00000347027.6_Silent_p.L1051L|ITGA7_ENST00000257880.7_Silent_p.L1101L|ITGA7_ENST00000394229.2_Silent_p.L1057L			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													ENSG00000135424																																					0													104.0	106.0	105.0					12																	56081767		2203	4300	6503	SO:0001819	synonymous_variant	0			-		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			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L1101	ENST00000555728.1	37	c.3303		12																																																																																			-	ITGA7	-	prints_Integrin_alpha		0.592	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	0	0	0	36	36	92	0.00	0.00	C	NM_002206		56081767	-1	14	43	26	47	tier1	no_errors	ENST00000555728	ensembl	human	known	74_37	silent	35.00	47.25	SNP	0.999	T	14	26
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	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000368059.3_Missense_Mutation_p.Q211H|SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100H			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													ENSG00000162739																																					0													80.0	82.0	81.0					1																	160460928		2203	4300	6503	SO:0001583	missense	0			-	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		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	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	-	SLAMF6	-	NULL		0.507	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	HGNC	protein_coding	OTTHUMT00000059010.1	0	0	0	44	44	44	0.00	0.00	C	NM_052931		160460928	-1	11	12	32	27	tier1	no_errors	ENST00000368057	ensembl	human	known	74_37	missense	25.58	30.77	SNP	0.000	G	11	32
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000179869																																					0													171.0	169.0	170.0					7																	48556449		1949	4151	6100	SO:0001583	missense	0			-	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		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	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	-	ABCA13	-	NULL		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	0	0	0	68	68	88	0.00	0.00	G	NM_152701		48556449	+1	40	49	60	74	tier1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	40.00	39.84	SNP	0.054	A	40	60
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	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000187398																																					0													82.0	82.0	82.0					11																	25071591		2203	4300	6503	SO:0001583	missense	0			-	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		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	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	-	LUZP2	-	NULL		0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	0	0	0	38	38	89	0.00	0.00	A	NM_001009909		25071591	+1	24	37	12	11	tier1	no_errors	ENST00000336930	ensembl	human	known	74_37	missense	66.67	77.08	SNP	0.000	G	24	12
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr1:44686023G>A	ENST00000372289.2	+	9	1607				DMAP1_ENST00000361745.6_Intron|DMAP1_ENST00000488433.1_Intron|DMAP1_ENST00000315913.5_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)	ENSG00000178028																																					0													19.0	18.0	18.0					1																	44686023		2188	4260	6448	SO:0001627	intron_variant	0			-	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		925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	R	SNP	-	NULL	ENST00000372289.2	37	NULL	CCDS509.1	1																																																																																			-	DMAP1	-	-		0.602	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	0	0	0	19	19	23	0.00	0.00	G	NM_019100		44686023	+1	6	12	14	25	tier1	no_errors	ENST00000494092	ensembl	human	known	74_37	rna	30.00	32.43	SNP	0.000	A	6	14
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	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000196420																																					0													141.0	122.0	128.0					1																	153512667		2203	4300	6503	SO:0001582	initiator_codon_variant	0			-	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		Q52LE7|Q5RHS3	Missense_Mutation	SNP	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	-	S100A5	-	NULL		0.542	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A5	HGNC	protein_coding	OTTHUMT00000037719.1	0	0	0	47	47	89	0.00	0.00	T	NM_002962	Missense_Mutation	153512667	-1	23	11	38	47	tier1	no_errors	ENST00000359215	ensembl	human	known	74_37	missense	37.70	18.97	SNP	0.722	C	23	38
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000519746.1_5'Flank|TBC1D9B_ENST00000444477.2_5'Flank|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.A749V	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													ENSG00000197226																																					0													71.0	67.0	69.0					5																	179300189		2203	4300	6503	SO:0001583	missense	0			-	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		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	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	-	TBC1D9B	-	superfamily_Rab-GTPase-TBC_dom		0.572	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	0	0	0	29	29	48	0.00	0.00	G	NM_015043		179300189	-1	16	35	10	36	tier1	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	61.54	49.30	SNP	1.000	A	16	10
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	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000184575																																					0													64.0	64.0	64.0					12																	64823969		2203	4300	6503	SO:0001583	missense	0			-	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		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	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	-	XPOT	-	superfamily_ARM-type_fold		0.393	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	0	0	0	34	34	85	0.00	0.00	G	NM_007235		64823969	+1	20	30	23	34	tier1	no_errors	ENST00000332707	ensembl	human	known	74_37	missense	45.45	46.88	SNP	0.996	T	20	23
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	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000379861.4_Missense_Mutation_p.L502V|ADAM33_ENST00000350009.2_Missense_Mutation_p.L502V|ADAM33_ENST00000466620.1_5'UTR	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													ENSG00000149451																																					0													64.0	63.0	64.0					20																	3652874		2203	4300	6503	SO:0001583	missense	0			-	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		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	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	-	ADAM33	-	superfamily_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin		0.662	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	0	0	0	41	41	84	0.00	0.00	G	NM_025220		3652874	-1	16	30	34	42	tier1	no_errors	ENST00000356518	ensembl	human	known	74_37	missense	32.00	41.67	SNP	0.998	C	16	34
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	cb783f8b-d092-4104-b809-3f90b19df7df	eadfba85-5283-41ea-a71a-dc89ac1bab4c	g.chr20:47895155G>A	ENST00000396105.1	-	0	0				ZFAS1_ENST00000450535.1_RNA|ZNFX1_ENST00000371754.4_5'Flank|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000441722.1_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000326677.5_RNA|SNORD12C_ENST00000386307.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZNFX1_ENST00000371752.1_5'Flank|ZFAS1_ENST00000371743.3_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													ENSG00000177410																																					0																																										SO:0001631	upstream_gene_variant	0			-	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		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	R	SNP	-	NULL	ENST00000396105.1	37	NULL	CCDS13417.1	20																																																																																			-	ZFAS1	-	-		0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAS1	HGNC	protein_coding	OTTHUMT00000079647.2	0	0	0	64	64	69	0.00	0.00	G	NM_021035		47895155	+1	22	42	22	59	tier1	no_errors	ENST00000371743	ensembl	human	known	74_37	rna	50.00	41.18	SNP	0.537	A	22	22
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	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000070366																									Melanoma(59;28 1088 11621 25887 46638 50814)												0													63.0	57.0	59.0					17																	2203218		2203	4300	6503	SO:0001587	stop_gained	0			-	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*		B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	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	-	SMG6	-	NULL		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	0	0	0	59	59	55	0.00	0.00	C			2203218	-1	34	23	33	26	tier1	no_errors	ENST00000263073	ensembl	human	known	74_37	nonsense	50.75	46.94	SNP	1.000	A	34	33
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000185477																																					0													63.0	61.0	62.0					4																	90170621		2203	4300	6503	SO:0001583	missense	0			-	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		Q8IVE4	Missense_Mutation	SNP	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	-	GPRIN3	-	NULL		0.507	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	0	0	0	54	54	91	0.00	0.00	G	NM_198281		90170621	-1	10	37	27	43	tier1	no_errors	ENST00000333209	ensembl	human	known	74_37	missense	27.03	45.68	SNP	0.001	A	10	27
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	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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	FAM151A_ENST00000371304.2_Missense_Mutation_p.D278E|ACOT11_ENST00000371316.3_Intron	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													ENSG00000162391																																					0													103.0	93.0	96.0					1																	55077385		2203	4300	6503	SO:0001583	missense	0			-	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		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	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	-	FAM151A	-	pfam_DUF2181		0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	0	0	0	29	29	51	0.00	0.00	G	NM_176782		55077385	-1	12	25	24	21	tier1	no_errors	ENST00000302250	ensembl	human	known	74_37	missense	33.33	54.35	SNP	0.997	C	12	24
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000188580	G|||	3	0.000599042	0.0015	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.001																0								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	SO:0001819	synonymous_variant	0			-	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			Q8IYR4|Q8TF67	Silent	SNP	pfam_Na/K-Atpase_Interacting	p.T118	ENST00000368417.1	37	c.354	CCDS34526.1	6																																																																																			rs142736368	NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.488	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	0	0	0	37	37	60	0.00	0.00	G	NM_001040214		124979412	+1	17	18	37	36	tier1	no_errors	ENST00000368417	ensembl	human	known	74_37	silent	31.48	33.33	SNP	0.436	A	17	37
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	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000245482																																					0													105.0	121.0	115.0					12																	34175490		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	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			Q6NS98|Q96DU0|Q96SM6	R	SNP	-	NULL	ENST00000266483.2	37	NULL	CCDS41769.1	12																																																																																			-	RP11-847H18.2	-	-		0.572	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245482	Clone_based_vega_gene	protein_coding	OTTHUMT00000403309.1	0	0	0	97	97	86	0.00	0.00	A	NM_032834		34175490	-1	43	33	54	34	tier1	no_errors	ENST00000501954	ensembl	human	known	74_37	rna	44.33	49.25	SNP	0.000	T	43	54
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	-	-	-	AG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000225880																																					0																																												0																																1.37:g.762306_762307dupAG				R	INS	-	NULL	ENST00000445118.2	37	NULL		1																																																																																				LINC00115	-	-		0.604	RP11-206L10.11-001	KNOWN	basic	lincRNA	LINC00115	HGNC	processed_transcript	OTTHUMT00000007015.2	0	0	0	76	76	36	0.00	0.00	-			762306	-1	36	21	49	29	tier1	no_errors	ENST00000473798	ensembl	human	known	74_37	rna	42.35	42.00	INS	0.002:0.002	AG	36	49
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	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000133863																																					0													98.0	99.0	99.0					8																	30694789		2203	4300	6503	SO:0001589	frameshift_variant	0				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			Frame_Shift_Del	DEL	NULL	p.N2621fs	ENST00000256246.2	37	c.7862	CCDS6080.1	8																																																																																				TEX15	-	NULL		0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	0	0	0	37	37	68	0.00	0.00	T			30694789	-1	12	28	33	35	tier1	no_errors	ENST00000256246	ensembl	human	known	74_37	frame_shift_del	26.67	44.44	DEL	0.000	-	12	33
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	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000135837																																					2	Substitution - Missense(2)	prostate(2)											104.0	106.0	105.0					1																	179989287		2203	4300	6503	SO:0001589	frameshift_variant	0				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		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.T793fs	ENST00000367607.3	37	c.2378	CCDS1336.1	1																																																																																				CEP350	-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	0	0	0	12	12	89	0.00	0.00	C	NM_014810		179989287	+1	12	47	9	20	tier1	no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	57.14	70.15	DEL	0.983	-	12	9
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	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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_ENST00000537756.2_5'Flank|CPT1A_ENST00000540367.1_Missense_Mutation_p.H642L|CPT1A_ENST00000539743.1_Missense_Mutation_p.H642L	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													ENSG00000110090																																					0													265.0	238.0	247.0					11																	68529106		2200	4294	6494	SO:0001583	missense	0			-	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		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	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	-	CPT1A	-	pfam_Carn_acyl_trans		0.498	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	0	0	0	44	44	70	0.00	0.00	T	NM_001876		68529106	-1	34	26	14	7	tier1	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	70.83	78.79	SNP	0.004	A	34	14
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000174951																																					0													80.0	83.0	82.0					19																	49253926		2201	4298	6499	SO:0001583	missense	0			-		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		O14505|O14506|O14507	Missense_Mutation	SNP	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	-	FUT1	-	pfam_Glyco_trans_11		0.652	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	0	0	0	14	14	16	0.00	0.00	C	NM_000148		49253926	-1	8	10	3	4	tier1	no_errors	ENST00000310160	ensembl	human	known	74_37	missense	72.73	71.43	SNP	0.000	T	8	3
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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	GRID1_ENST00000536331.1_Missense_Mutation_p.A530V|GRID1_ENST00000552278.2_5'UTR|RP11-93H12.2_ENST00000443311.1_RNA	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)			ENSG00000182771																																					0													60.0	63.0	62.0					10																	87362184		2203	4300	6503	SO:0001583	missense	0			-	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		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	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	-	GRID1	-	NULL		0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	0	0	0	24	24	24	0.00	0.00	G	XM_043613		87362184	-1	23	5	38	7	tier1	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	37.70	41.67	SNP	1.000	A	23	38
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	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000158077																																					0													128.0	122.0	124.0					11																	7092514		2201	4296	6497	SO:0001583	missense	0			-	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		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_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	-	NLRP14	-	NULL		0.368	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	0	0	0	51	51	48	0.00	0.00	A	NM_176822		7092514	+1	21	11	12	7	tier1	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	63.64	61.11	SNP	0.566	G	21	12
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	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000160336																																					0													75.0	80.0	78.0					19																	53959188		2203	4300	6503			0			-	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			Q6ZNB9	R	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			rs144532705	ZNF761	-	-		0.423	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		0	0	0	34	34	6	0.00	0.00	G	NM_001008401		53959188	+1	49	2	18	1	tier1	no_errors	ENST00000334095	ensembl	human	known	74_37	rna	73.13	66.67	SNP	0.000	A	49	18
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	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000146776																																					0													128.0	111.0	116.0					7																	105278824		692	1591	2283	SO:0001583	missense	0			-	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		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	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	-	ATXN7L1	-	NULL		0.527	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	0	0	0	40	40	142	0.00	0.00	C			105278824	-1	6	9	50	127	tier1	no_errors	ENST00000419735	ensembl	human	known	74_37	missense	10.71	6.62	SNP	1.000	T	6	50
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	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	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													ENSG00000105696																																					0													69.0	50.0	57.0					19																	18729058		2203	4300	6503	SO:0001583	missense	0			-	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			Missense_Mutation	SNP	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	-	TMEM59L	-	pfam_Uncharacterised_TMEM59		0.637	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	0	0	1	33	33	36	0.00	2.70	A			18729058	+1	21	22	26	36	tier1	no_errors	ENST00000262817	ensembl	human	known	74_37	missense	44.68	37.93	SNP	0.870	G	21	26
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_IV	WXS	none			Illumina HiSeq	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													ENSG00000174945																																					0																																										SO:0001627	intron_variant	0				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			B3KRS0|Q8TF51	R	DEL	-	NULL	ENST00000312371.4	37	NULL	CCDS34589.1	7																																																																																				AMZ1	-	-		0.635	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ1	HGNC	protein_coding	OTTHUMT00000325244.1	0	0	0	0	0	0	0.00	0.00	TGCCCCAGCCAGGCTGGCATTTTGCAGCCATGCAGCCTGGCTCTGTGTCCTGCTG	NM_133463		2741918	+1	0	0	5	5	tier1	no_errors	ENST00000485540	ensembl	human	known	74_37	rna	0.00	0.00	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	-	0	5
