#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
C19orf35	374872	genome.wustl.edu	37	19	2280757	2280776	+	Intron	DEL	CCTGCCGCTCCCTGCACCCA	CCTGCCGCTCCCTGCACCCA	-	rs545718575|rs202241723|rs10420010|rs535290401	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	CCTGCCGCTCCCTGCACCCA	CCTGCCGCTCCCTGCACCCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:2280757_2280776delCCTGCCGCTCCCTGCACCCA	ENST00000342063.3	-	2	176					NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35											large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAACCTcctgccgctccctgcacccacctgccgctc	0.655													ENSG00000188305		935	0.186701	0.3457	0.1383	5008	,	,		12619	0.2202		0.0646	False		,,,				2504	0.0971																0																																										SO:0001627	intron_variant	0				AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.82+72TGGGTGCAGGGAGCGGCAGG>-	19.37:g.2280757_2280776delCCTGCCGCTCCCTGCACCCA				Frame_Shift_Del	DEL	NULL	p.V52fs	ENST00000342063.3	37	c.174_155	CCDS12087.1	19																																																																																				C19orf35	-	NULL		0.655	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf35	HGNC	protein_coding	OTTHUMT00000442080.1									CCTGCCGCTCCCTGCACCCA	NM_198532		2280776	-1					tier1	no_errors	ENST00000590316	ensembl	human	known	74_37	frame_shift_del			DEL	0.339:0.033:0.011:0.003:0.002:0.000:0.002:0.002:0.003:0.008:0.009:0.011:0.005:0.001:0.000:0.000:0.000:0.000:0.000:0.000	-		
GIN1	54826	genome.wustl.edu	37	5	102432377	102432377	+	Frame_Shift_Del	DEL	C	C	-	rs74391316		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:102432377delC	ENST00000399004.2	-	7	1256	c.1162delG	c.(1162-1164)gttfs	p.V388fs	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	388					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CAAGGACCAACCCATTCAGAC	0.393													ENSG00000145723																																					0													253.0	239.0	243.0					5																	102432377		1866	4104	5970	SO:0001589	frameshift_variant	0				BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1162delG	5.37:g.102432377delC	ENSP00000381970:p.Val388fs		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Frame_Shift_Del	DEL	pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.V388fs	ENST00000399004.2	37	c.1162	CCDS43349.1	5																																																																																				GIN1	-	NULL		0.393	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	HGNC	protein_coding	OTTHUMT00000370478.3	0	0		81	81		0.00		C	NM_017676		102432377	-1	10		36		tier1	no_errors	ENST00000399004	ensembl	human	known	74_37	frame_shift_del	21.74		DEL	1.000	-	10	36
GBP2	2634	genome.wustl.edu	37	1	89583433	89583433	+	Missense_Mutation	SNP	C	C	T	rs140765409		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:89583433C>T	ENST00000370466.3	-	5	720	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	151	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGCCTTGATTCGATCTGTCAG	0.388													ENSG00000162645																																					0								C	GLN/ARG	0,4406		0,0,2203	57.0	52.0	54.0		452	-4.6	0.0	1	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GBP2	NM_004120.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	151/592	89583433	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.452G>A	1.37:g.89583433C>T	ENSP00000359497:p.Arg151Gln		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.R151Q	ENST00000370466.3	37	c.452	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789668	0.31685	0.0	1.16E-4	ENSG00000162645	ENST00000370466	T	0.61510	0.1	3.66	-4.62	0.03370	Guanylate-binding protein, N-terminal (1);	0.895600	0.09365	U	0.812257	T	0.22704	0.0548	L	0.60957	1.885	0.09310	N	1	P	0.49559	0.925	B	0.37692	0.256	T	0.17899	-1.0354	10	0.30854	T	0.27	-15.008	5.2564	0.15550	0.512:0.3065:0.0:0.1815	.	151	P32456	GBP2_HUMAN	Q	151	ENSP00000359497:R151Q	ENSP00000359497:R151Q	R	-	2	0	GBP2	89356021	0.000000	0.05858	0.002000	0.10522	0.227000	0.25037	-1.631000	0.02026	-0.704000	0.05042	-0.300000	0.09419	CGA	rs140765409	GBP2	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.388	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	0	0		26	26		0.00		C	NM_004120		89583433	-1	9		25		tier1	no_errors	ENST00000370466	ensembl	human	known	74_37	missense	26.47		SNP	0.009	T	9	25
MYH3	4621	genome.wustl.edu	37	17	10541139	10541139	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:10541139C>T	ENST00000583535.1	-	28	3930	c.3843G>A	c.(3841-3843)ttG>ttA	p.L1281L	MYH3_ENST00000226209.7_Silent_p.L1281L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1281					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCGGTCTGCAAACGAGACT	0.562													ENSG00000109063																																					0													68.0	63.0	65.0					17																	10541139		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3843G>A	17.37:g.10541139C>T			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1281	ENST00000583535.1	37	c.3843	CCDS11157.1	17																																																																																			-	MYH3	-	pfam_Myosin_tail,superfamily_Prefoldin		0.562	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	0	0		35	35		0.00		C	NM_002470		10541139	-1	3		14		tier1	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	17.65		SNP	0.112	T	3	14
ZNF646	9726	genome.wustl.edu	37	16	31092310	31092310	+	Silent	SNP	C	C	T	rs201208689		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:31092310C>T	ENST00000394979.2	+	1	5088	c.4665C>T	c.(4663-4665)gaC>gaT	p.D1555D	ZNF646_ENST00000300850.5_Silent_p.D1555D			O15015	ZN646_HUMAN	zinc finger protein 646	1555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACAAGACAGACCGACACTATT	0.557													ENSG00000167395	C|||	1	0.000199681	0.0008	0.0	5008	,	,		20034	0.0		0.0	False		,,,				2504	0.0																0													91.0	98.0	95.0					16																	31092310		2197	4300	6497	SO:0001819	synonymous_variant	0			GMAF=0.0005	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4665C>T	16.37:g.31092310C>T			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1555	ENST00000394979.2	37	c.4665		16																																																																																			rs201208689	ZNF646	-	NULL		0.557	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	0	0		38	38		0.00		C	NM_014699		31092310	+1	4		26		tier1	no_errors	ENST00000300850	ensembl	human	known	74_37	silent	13.33		SNP	0.423	T	4	26
LRRC74A	145497	genome.wustl.edu	37	14	77319755	77319755	+	Splice_Site	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:77319755T>C	ENST00000393774.3	+	9	1132		c.e9+2			NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GTTCTGAAGGTAGTCTTCAGC	0.488													ENSG00000100565																									Ovarian(165;1056 1958 32571 36789 48728)												0													47.0	37.0	41.0					14																	77319755		2201	4297	6498	SO:0001630	splice_region_variant	0			-																												ENST00000393774.3:c.1008+2T>C	14.37:g.77319755T>C				Splice_Site	SNP	-	e9+2	ENST00000393774.3	37	c.1008+2	CCDS9853.2	14	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444507	0.63178	.	.	ENSG00000100565	ENST00000393774	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4993	0.67709	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf166B	76389508	1.000000	0.71417	0.981000	0.43875	0.651000	0.38670	7.178000	0.77657	1.908000	0.55244	0.379000	0.24179	.	-	C14orf166B	-	-		0.488	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	0	0		21	21		0.00		T		Intron	77319755	+1	4		10		tier1	no_errors	ENST00000393774	ensembl	human	known	74_37	splice_site	28.57		SNP	1.000	C	4	10
TMEM38A	79041	genome.wustl.edu	37	19	16791255	16791255	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:16791255G>A	ENST00000187762.2	+	3	420	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	110						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AAGTGTGTCTGCTTCCTGCCT	0.557													ENSG00000072954																																					0													285.0	268.0	274.0					19																	16791255		2203	4300	6503	SO:0001583	missense	0			-	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.329G>A	19.37:g.16791255G>A	ENSP00000187762:p.Cys110Tyr		A8K9P9	Missense_Mutation	SNP	pfam_TRIC_channel	p.C110Y	ENST00000187762.2	37	c.329	CCDS12349.1	19	.	.	.	.	.	.	.	.	.	.	g	16.97	3.267897	0.59540	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.05	2.81	0.32909	.	0.256865	0.44688	D	0.000438	T	0.27419	0.0673	N	0.08118	0	0.33685	D	0.612563	P	0.52577	0.954	P	0.45377	0.478	T	0.39820	-0.9595	9	0.37606	T	0.19	-26.2201	14.3868	0.66949	0.0:0.2823:0.7177:0.0	.	110	Q9H6F2	TM38A_HUMAN	Y	110	.	ENSP00000187762:C110Y	C	+	2	0	TMEM38A	16652255	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.585000	0.46111	0.583000	0.29574	0.561000	0.74099	TGC	-	TMEM38A	-	pfam_TRIC_channel		0.557	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38A	HGNC	protein_coding	OTTHUMT00000462841.1	0	0		48	48		0.00		G	NM_024074		16791255	+1	5		43		tier1	no_errors	ENST00000187762	ensembl	human	known	74_37	missense	10.42		SNP	1.000	A	5	43
LRP1	4035	genome.wustl.edu	37	12	57591343	57591343	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:57591343G>A	ENST00000243077.3	+	58	9644	c.9178G>A	c.(9178-9180)Gtt>Att	p.V3060I	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3060					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACAACGCCGTTGCCTTGGA	0.547													ENSG00000123384																																					0													125.0	107.0	113.0					12																	57591343		2203	4300	6503	SO:0001583	missense	0			-	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9178G>A	12.37:g.57591343G>A	ENSP00000243077:p.Val3060Ile		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3060I	ENST00000243077.3	37	c.9178	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218875	0.39201	.	.	ENSG00000123384	ENST00000243077	D	0.91124	-2.79	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000027	D	0.88559	0.6469	N	0.15975	0.35	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.83686	0.0174	10	0.02654	T	1	.	16.1915	0.81992	0.0:0.0:1.0:0.0	.	3060	Q07954	LRP1_HUMAN	I	3060	ENSP00000243077:V3060I	ENSP00000243077:V3060I	V	+	1	0	LRP1	55877610	1.000000	0.71417	0.036000	0.18154	0.768000	0.43524	5.480000	0.66820	2.347000	0.79759	0.511000	0.50034	GTT	-	LRP1	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	0	0		33	33		0.00		G	NM_002332		57591343	+1	4		17		tier1	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	19.05		SNP	0.988	A	4	17
LPCAT1	79888	genome.wustl.edu	37	5	1461990	1461990	+	3'UTR	DEL	A	A	-			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:1461990delA	ENST00000283415.3	-	0	3513				LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1						cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTCTCCTTGAAAAATGAATC	0.463													ENSG00000153395																																					0																																										SO:0001624	3_prime_UTR_variant	0				BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.*1776T>-	5.37:g.1461990delA			Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	R	DEL	-	NULL	ENST00000283415.3	37	NULL	CCDS3864.1	5																																																																																				LPCAT1	-	-		0.463	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	0	0		36	36		0.00		A	NM_024830		1461990	-1	2		14		tier1	no_errors	ENST00000503252	ensembl	human	known	74_37	rna	12.50		DEL	0.000	-	2	14
KIR3DX1	90011	genome.wustl.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	286	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562													ENSG00000104970																									Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)												0													92.0	90.0	91.0					19																	55048290		1942	4147	6089	SO:0001583	missense	0			-	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.857C>T	19.37:g.55048290C>T	ENSP00000335388:p.Thr286Met		B7WNL0|Q8N0S4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.T286M	ENST00000335056.3	37	c.857		19	.	.	.	.	.	.	.	.	.	.	c	3.085	-0.188251	0.06299	.	.	ENSG00000104970	ENST00000335056	T	0.03801	3.8	1.79	-3.58	0.04597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.36974	0.576	B	0.34301	0.179	T	0.19418	-1.0306	8	0.72032	D	0.01	.	4.1502	0.10234	0.0:0.2279:0.3523:0.4198	.	286	Q9H7L2	KI3X1_HUMAN	M	286	ENSP00000335388:T286M	ENSP00000221567:T286M	T	+	2	0	KIR3DX1	59740102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.835000	0.00180	-1.702000	0.01411	-1.605000	0.00808	ACG	-	KIR3DX1	-	smart_Ig_sub,pfscan_Ig-like_dom		0.562	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	KIR3DX1	HGNC	protein_coding	OTTHUMT00000140800.2	0	0		66	66		0.00		C	NR_026716		55048290	+1	21		25		tier1	no_errors	ENST00000335056	ensembl	human	known	74_37	missense	45.65		SNP	0.000	T	21	25
SPPL2A	84888	genome.wustl.edu	37	15	51040331	51040331	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:51040331T>A	ENST00000261854.5	-	4	703	c.429A>T	c.(427-429)aaA>aaT	p.K143N	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	143	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTCTAAAGTCTTTGTAGCTTA	0.249													ENSG00000138600																									Melanoma(50;790 1209 4069 22965 33125)												0													29.0	29.0	29.0					15																	51040331		2184	4273	6457	SO:0001583	missense	0			-		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.429A>T	15.37:g.51040331T>A	ENSP00000261854:p.Lys143Asn		B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.K143N	ENST00000261854.5	37	c.429	CCDS10138.1	15	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074932	0.36566	.	.	ENSG00000138600	ENST00000261854	T	0.07216	3.21	6.07	4.95	0.65309	Protease-associated domain, PA (1);	0.363495	0.34507	N	0.003908	T	0.07548	0.0190	L	0.42744	1.35	0.32406	N	0.551321	B	0.17667	0.023	B	0.21360	0.034	T	0.11966	-1.0566	10	0.30078	T	0.28	-10.8128	5.5459	0.17063	0.1365:0.141:0.0:0.7225	.	143	Q8TCT8	PSL2_HUMAN	N	143	ENSP00000261854:K143N	ENSP00000261854:K143N	K	-	3	2	AC012100.1	48827623	0.995000	0.38212	0.967000	0.41034	0.899000	0.52679	1.086000	0.30853	1.111000	0.41721	0.533000	0.62120	AAA	-	SPPL2A	-	pfam_Protease-assoc_domain		0.249	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2A	HGNC	protein_coding	OTTHUMT00000254543.3	0	0		91	91		0.00		T	NM_032802		51040331	-1	4		30		tier1	no_errors	ENST00000261854	ensembl	human	known	74_37	missense	11.43		SNP	0.990	A	4	30
NFE2L2	4780	genome.wustl.edu	37	2	178129391	178129399	+	5'UTR	DEL	GGCGGCGGC	GGCGGCGGC	-	rs143406266|rs545569593|rs187291840|rs541734985	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	GGCGGCGGC	GGCGGCGGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:178129391_178129399delGGCGGCGGC	ENST00000397062.3	-	0	460_468				NFE2L2_ENST00000397063.4_5'Flank|AC079305.10_ENST00000428541.1_RNA|NFE2L2_ENST00000423513.1_5'Flank|NFE2L2_ENST00000446151.2_5'Flank|NFE2L2_ENST00000464747.1_Intron	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2						cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CGGCTCTggtggcggcggcggcggcggtg	0.77			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			ENSG00000222043		167	0.0333466	0.1188	0.0115	5008	,	,		9209	0.0		0.002	False		,,,				2504	0.0							Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0																																										SO:0001623	5_prime_UTR_variant	0					CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.-95GCCGCCGCC>-	2.37:g.178129391_178129399delGGCGGCGGC			B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	R	DEL	-	NULL	ENST00000397062.3	37	NULL	CCDS42782.1	2																																																																																				AC079305.10	-	-		0.770	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000222043	Clone_based_vega_gene	protein_coding	OTTHUMT00000257752.4									GGCGGCGGC	NM_006164		178129399	+1					tier1	no_errors	ENST00000428541	ensembl	human	known	74_37	rna			DEL	0.035:0.040:0.045:0.113:0.071:0.024:0.016:0.012:0.009	-		
PPP1R12B	4660	genome.wustl.edu	37	1	202407189	202407190	+	Intron	INS	-	-	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391													ENSG00000077157																																					0																																										SO:0001627	intron_variant	0				AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																				PPP1R12B	-	NULL		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	0	0		24	24		0.00		-	NM_032105		202407190	+1	2		16		tier1	no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	11.11		INS	0.085:0.041	T	2	16
LOC349160	349160	genome.wustl.edu	37	7	136849019	136849019	+	RNA	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr7:136849019G>A	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA																							CTTCCTGACCGGGAAAACAGA	0.537													ENSG00000234352																																					0																																												0			-																													7.37:g.136849019G>A				R	SNP	-	NULL	ENST00000439694.1	37	NULL		7																																																																																			-	hsa-mir-490	-	-		0.537	hsa-mir-490.1-001	KNOWN	basic	antisense	MIR490	miRBase	antisense	OTTHUMT00000341008.1	0	0		56	56		0.00		G			136849019	-1	15		64		tier1	no_errors	ENST00000425981	ensembl	human	known	74_37	rna	18.75		SNP	1.000	A	15	64
NKX1-1	54729	genome.wustl.edu	37	4	1397136	1397136	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:1397136G>T	ENST00000422806.1	-	2	819	c.820C>A	c.(820-822)Ctg>Atg	p.L274M				Q15270	NKX11_HUMAN	NK1 homeobox 1	274					lipid metabolic process (GO:0006629)|neurological system process (GO:0050877)|regulation of generation of precursor metabolites and energy (GO:0043467)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)										TTGTTCTCCAGCGCCACGAGC	0.672													ENSG00000235608																																					0																																										SO:0001583	missense	0			-	X76978		4p16.3	2012-03-09	2007-07-09			ENSG00000235608		"""Homeoboxes / ANTP class : NKL subclass"""	24975	protein-coding gene	gene with protein product			"""NK1 transcription factor related, locus 1 (Drosophila)"""			7518789	Standard	NM_001290079		Approved	HSPX153, SAX2		Q15270		ENST00000422806.1:c.820C>A	4.37:g.1397136G>T	ENSP00000407978:p.Leu274Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L274M	ENST00000422806.1	37	c.820		4	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239505	0.58995	.	.	ENSG00000235608	ENST00000422806	D	0.99541	-6.12	3.16	1.36	0.22044	.	0.000000	0.39909	U	0.001221	D	0.99064	0.9679	.	.	.	.	.	.	.	.	.	.	.	.	D	0.99948	1.1495	6	0.87932	D	0	-15.6647	8.2409	0.31660	0.2042:0.0:0.7958:0.0	.	.	.	.	M	274	ENSP00000407978:L274M	ENSP00000407978:L274M	L	-	1	2	NKX1-1	1387136	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	3.385000	0.52485	0.306000	0.22856	-0.423000	0.05987	CTG	-	NKX1-1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.672	NKX1-1-001	KNOWN	basic|appris_principal	protein_coding	NKX1-1	HGNC	protein_coding	OTTHUMT00000359457.2	0	0		23	23		0.00		G	XM_926341		1397136	-1	3		8		tier1	no_errors	ENST00000422806	ensembl	human	known	74_37	missense	27.27		SNP	1.000	T	3	8
PFKL	5211	genome.wustl.edu	37	21	45738392	45738392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr21:45738392G>T	ENST00000349048.4	+	10	1031	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	PFKL_ENST00000403390.1_Nonsense_Mutation_p.E373*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	326	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCGCTGCTGGAAGCCACGCC	0.662													ENSG00000141959																																					0													54.0	51.0	52.0					21																	45738392		2202	4300	6502	SO:0001587	stop_gained	0			-		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.976G>T	21.37:g.45738392G>T	ENSP00000269848:p.Glu326*		Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.E373*	ENST00000349048.4	37	c.1117	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	G	28.9	4.955939	0.92726	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	.	.	.	4.76	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.8905	12.9192	0.58222	0.0:0.0:0.8358:0.1642	.	.	.	.	X	326;119;373	.	ENSP00000269848:E326X	E	+	1	0	PFKL	44562820	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.385000	0.97223	0.947000	0.37659	0.313000	0.20887	GAA	-	PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.662	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	0	0		42	42		0.00		G			45738392	+1	4		40		tier1	no_errors	ENST00000403390	ensembl	human	known	74_37	nonsense	9.09		SNP	1.000	T	4	40
PARP6	56965	genome.wustl.edu	37	15	72534537	72534537	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:72534537G>T	ENST00000569795.1	-	22	2353	c.1666C>A	c.(1666-1668)Ctg>Atg	p.L556M	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.L556M|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	556	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGACTCTGCAGGAACCGTGAC	0.478													ENSG00000137817																																					0													96.0	90.0	92.0					15																	72534537		1950	4146	6096	SO:0001583	missense	0			-	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1666C>A	15.37:g.72534537G>T	ENSP00000456348:p.Leu556Met		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L556M	ENST00000569795.1	37	c.1666	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443517	0.83993	.	.	ENSG00000137817	ENST00000287196	.	.	.	5.04	5.04	0.67666	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	U	0.000015	T	0.79064	0.4383	M	0.75884	2.315	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.992;0.998	T	0.79203	-0.1900	9	0.46703	T	0.11	-11.9907	17.5517	0.87878	0.0:0.0:1.0:0.0	.	556;489	Q2NL67;A0PJ50	PARP6_HUMAN;.	M	556	.	ENSP00000287196:L556M	L	-	1	2	PARP6	70321591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.537000	0.67186	2.618000	0.88619	0.655000	0.94253	CTG	-	PARP6	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.478	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	0	0		29	29		0.00		G	NM_020214		72534537	-1	3		15		tier1	no_errors	ENST00000287196	ensembl	human	known	74_37	missense	16.67		SNP	1.000	T	3	15
APPL2	55198	genome.wustl.edu	37	12	105591572	105591572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:105591572G>T	ENST00000258530.3	-	11	1248	c.1023C>A	c.(1021-1023)tgC>tgA	p.C341*	APPL2_ENST00000539978.2_Nonsense_Mutation_p.C298*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.C347*|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGATCTGGAAGCAGTAGCGCC	0.542													ENSG00000136044																																					0													94.0	78.0	84.0					12																	105591572		2203	4300	6503	SO:0001587	stop_gained	0			-	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1023C>A	12.37:g.105591572G>T	ENSP00000258530:p.Cys341*		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Nonsense_Mutation	SNP	pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.C347*	ENST00000258530.3	37	c.1041	CCDS9101.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.966209	0.97967	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	.	.	.	5.24	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5676	10.234	0.43273	0.2377:0.0:0.7623:0.0	.	.	.	.	X	341;298;347	.	ENSP00000258530:C341X	C	-	3	2	APPL2	104115702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.216000	0.51176	1.218000	0.43458	-0.251000	0.11542	TGC	-	APPL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	0	0		31	31		0.00		G	NM_018171		105591572	-1	4		16		tier1	no_errors	ENST00000551662	ensembl	human	known	74_37	nonsense	20.00		SNP	1.000	T	4	16
PHEX	5251	genome.wustl.edu	37	X	22196424	22196424	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:22196424T>C	ENST00000379374.4	+	14	2082	c.1517T>C	c.(1516-1518)gTc>gCc	p.V506A	PHEX_ENST00000537599.1_Missense_Mutation_p.V506A|PHEX_ENST00000535894.1_Missense_Mutation_p.V409A|PHEX_ENST00000418858.3_Missense_Mutation_p.V209A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	506					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTGGCAACGTCCTACAAACT	0.333													ENSG00000102174																																					0													98.0	88.0	91.0					X																	22196424		2203	4300	6503	SO:0001583	missense	0			-	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1517T>C	X.37:g.22196424T>C	ENSP00000368682:p.Val506Ala		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V506A	ENST00000379374.4	37	c.1517	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676798	0.47886	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.58969	1.84	0.54753	D	0.999986	D;D	0.69078	0.997;0.996	D;P	0.66602	0.945;0.835	D	0.85489	0.1184	10	0.22706	T	0.39	.	14.2766	0.66184	0.0:0.0:0.0:1.0	.	506;506	F5GXU4;P78562	.;PHEX_HUMAN	A	506;506;409;209	ENSP00000368682:V506A;ENSP00000440362:V506A;ENSP00000439418:V409A;ENSP00000443531:V209A	ENSP00000368682:V506A	V	+	2	0	PHEX	22106345	1.000000	0.71417	0.993000	0.49108	0.657000	0.38888	6.160000	0.71862	2.018000	0.59344	0.486000	0.48141	GTC	-	PHEX	-	NULL		0.333	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	0	0		77	77		0.00		T	NM_000444		22196424	+1	37		33		tier1	no_errors	ENST00000379374	ensembl	human	known	74_37	missense	52.86		SNP	1.000	C	37	33
MGST1	4257	genome.wustl.edu	37	12	16562191	16562191	+	Intron	DEL	G	G	-			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:16562191delG	ENST00000359720.3	+	1	778				AC007528.1_ENST00000401104.1_RNA			P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1						cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TTAAGGTGATGTGTAAtgtgt	0.353													ENSG00000215923																																					0																																										SO:0001627	intron_variant	0				U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000359720.3:c.778+25653G>-	12.37:g.16562191delG			A8K533|G5EA53	R	DEL	-	NULL	ENST00000359720.3	37	NULL		12																																																																																				AC007528.1	-	-		0.353	MGST1-016	KNOWN	basic	processed_transcript	ENSG00000215923	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000401275.1	0	0		45	45		0.00		G	NM_145791		16562191	-1	2		13		tier1	no_errors	ENST00000401104	ensembl	human	novel	74_37	rna	13.33		DEL	0.000	-	2	13
ABCE1	6059	genome.wustl.edu	37	4	146031349	146031349	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:146031349T>A	ENST00000296577.4	+	6	1015	c.500T>A	c.(499-501)aTc>aAc	p.I167N	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'Flank	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	167	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CTAAAAGCCATCATCAAACCT	0.358													ENSG00000164163																																					0													78.0	84.0	82.0					4																	146031349		2203	4299	6502	SO:0001583	missense	0			-	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.500T>A	4.37:g.146031349T>A	ENSP00000296577:p.Ile167Asn		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.I167N	ENST00000296577.4	37	c.500	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139696	0.77775	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.94280	-3.39	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	L	0.51422	1.61	0.80722	D	1	P	0.41420	0.749	P	0.46389	0.515	D	0.93312	0.6685	10	0.54805	T	0.06	-47.5896	16.3786	0.83431	0.0:0.0:0.0:1.0	.	167	P61221	ABCE1_HUMAN	N	167	ENSP00000296577:I167N	ENSP00000296577:I167N	I	+	2	0	ABCE1	146250799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.323000	0.78572	0.528000	0.53228	ATC	-	ABCE1	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E		0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	0	0		64	64		0.00		T	NM_002940		146031349	+1	4		44		tier1	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	8.33		SNP	1.000	A	4	44
RNF149	284996	genome.wustl.edu	37	2	101893720	101893720	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:101893720G>T	ENST00000295317.3	-	7	1290	c.1183C>A	c.(1183-1185)Cat>Aat	p.H395N		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	395					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GGTCCTCCATGCCGAGAGTCA	0.463													ENSG00000163162																									Colon(25;331 612 6521 7355 31028)												0													48.0	48.0	48.0					2																	101893720		2203	4300	6503	SO:0001583	missense	0			-	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1183C>A	2.37:g.101893720G>T	ENSP00000295317:p.His395Asn		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H395N	ENST00000295317.3	37	c.1183	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	G	3.762	-0.049445	0.07407	.	.	ENSG00000163162	ENST00000295317	T	0.08102	3.13	4.65	1.82	0.25136	.	1.231620	0.05622	N	0.580108	T	0.05640	0.0148	N	0.14661	0.345	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.42716	-0.9435	10	0.36615	T	0.2	.	5.0445	0.14477	0.1932:0.1721:0.6347:0.0	.	395	Q8NC42	RN149_HUMAN	N	395	ENSP00000295317:H395N	ENSP00000295317:H395N	H	-	1	0	RNF149	101260152	0.017000	0.18338	0.009000	0.14445	0.003000	0.03518	1.306000	0.33505	0.149000	0.19098	-0.251000	0.11542	CAT	-	RNF149	-	NULL		0.463	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	0	0		31	31		0.00		G	NM_173647		101893720	-1	4		35		tier1	no_errors	ENST00000295317	ensembl	human	known	74_37	missense	10.26		SNP	0.001	T	4	35
ELL3	80237	genome.wustl.edu	37	15	44066407	44066407	+	Silent	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr15:44066407T>C	ENST00000319359.3	-	9	1652	c.1011A>G	c.(1009-1011)agA>agG	p.R337R	ELL3_ENST00000497465.1_5'UTR|SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	337					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTCGCCGAACTCTTTTAATCT	0.512													ENSG00000128886																																					0													95.0	90.0	92.0					15																	44066407		2198	4298	6496	SO:0001819	synonymous_variant	0			-	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.1011A>G	15.37:g.44066407T>C			B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL	p.R337	ENST00000319359.3	37	c.1011	CCDS10102.1	15																																																																																			-	ELL3	-	pfam_Occludin_Rpol2_elong_fac_ELL		0.512	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	0	0		51	51		0.00		T	NM_025165		44066407	-1	3		20		tier1	no_errors	ENST00000319359	ensembl	human	known	74_37	silent	13.04		SNP	0.998	C	3	20
SLC26A9	115019	genome.wustl.edu	37	1	205898419	205898419	+	Silent	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:205898419G>T	ENST00000367135.3	-	7	896	c.783C>A	c.(781-783)atC>atA	p.I261I	SLC26A9_ENST00000340781.4_Silent_p.I261I|SLC26A9_ENST00000367134.2_Silent_p.I261I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	261					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGCACCGCTGATGAGAGCGA	0.532													ENSG00000174502																																					0													186.0	172.0	177.0					1																	205898419		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.783C>A	1.37:g.205898419G>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I261	ENST00000367135.3	37	c.783	CCDS30990.1	1																																																																																			-	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.532	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	0	0		47	47		0.00		G	NM_052934		205898419	-1	3		23		tier1	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	11.54		SNP	1.000	T	3	23
RBM10	8241	genome.wustl.edu	37	X	47035947	47035947	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:47035947C>T	ENST00000377604.3	+	7	1367	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	RBM10_ENST00000329236.7_Missense_Mutation_p.P132S|RBM10_ENST00000345781.6_Missense_Mutation_p.P132S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	209	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTACAGTGACCCCAAGCCCAA	0.587													ENSG00000182872																									Melanoma(171;120 2705 19495 39241)												0													182.0	114.0	137.0					X																	47035947		2203	4300	6503	SO:0001583	missense	0			-	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.625C>T	X.37:g.47035947C>T	ENSP00000366829:p.Pro209Ser		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.P209S	ENST00000377604.3	37	c.625	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328808	0.60743	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.12147	2.71;3.34;3.34	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.84585	2.705	0.36779	D	0.884216	D;P;P;D;D	0.89917	1.0;0.768;0.926;1.0;0.985	D;B;P;D;P	0.87578	0.998;0.418;0.835;0.998;0.873	T	0.51116	-0.8746	10	0.31617	T	0.26	-18.9531	14.4882	0.67631	0.0:1.0:0.0:0.0	.	132;274;209;132;209	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	S	209;132;132	ENSP00000366829:P209S;ENSP00000328848:P132S;ENSP00000329659:P132S	ENSP00000328848:P132S	P	+	1	0	RBM10	46920891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.552000	0.60747	2.089000	0.63090	0.418000	0.28097	CCC	-	RBM10	-	pfscan_RRM_dom		0.587	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	0	0		50	50		0.00		C	NM_005676		47035947	+1	9		29		tier1	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	23.68		SNP	1.000	T	9	29
FBXL12	54850	genome.wustl.edu	37	19	9929421	9929421	+	Silent	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:9929421G>A	ENST00000247977.4	-	1	310	c.69C>T	c.(67-69)gaC>gaT	p.D23D	FBXL12_ENST00000589626.1_Silent_p.D23D|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000585379.1_Intron|FBXL12_ENST00000586073.1_Silent_p.D23D|AC008752.1_ENST00000401283.1_RNA|FBXL12_ENST00000592067.1_Intron|FBXL12_ENST00000586651.1_Silent_p.D23D|FBXL12_ENST00000586469.1_Silent_p.D23D|FBXL12_ENST00000588922.1_Intron	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	23	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGCGGATCCGGTCCCGTACCG	0.687													ENSG00000127452																																					0													15.0	15.0	15.0					19																	9929421		2125	4157	6282	SO:0001819	synonymous_variant	0			-	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.69C>T	19.37:g.9929421G>A			B3KSJ8|Q9H5K4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.D23	ENST00000247977.4	37	c.69	CCDS12218.1	19																																																																																			-	FBXL12	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom		0.687	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL12	HGNC	protein_coding	OTTHUMT00000450265.1	0	0		27	27		0.00		G	NM_017703		9929421	-1	4		32		tier1	no_errors	ENST00000247977	ensembl	human	known	74_37	silent	11.11		SNP	1.000	A	4	32
KLHL36	79786	genome.wustl.edu	37	16	84690651	84690651	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:84690651C>T	ENST00000564996.1	+	3	379	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R80W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATCGGCATGCGGGAAGCTTT	0.627													ENSG00000135686																																					0													89.0	73.0	78.0					16																	84690651		2199	4300	6499	SO:0001583	missense	0			-	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.238C>T	16.37:g.84690651C>T	ENSP00000456743:p.Arg80Trp		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R80W	ENST00000564996.1	37	c.238	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758095	0.49468	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.68331	-0.32	5.46	4.47	0.54385	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.053545	0.64402	D	0.000001	D	0.85208	0.5644	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	D	0.88771	0.3264	10	0.72032	D	0.01	.	13.9734	0.64255	0.2907:0.7093:0.0:0.0	.	80;80	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	80	ENSP00000258157:R80W	ENSP00000258157:R80W	R	+	1	2	KLHL36	83248152	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	1.393000	0.34497	1.209000	0.43321	0.561000	0.74099	CGG	-	KLHL36	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.627	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	0	0		31	31		0.00		C			84690651	+1	4		26		tier1	no_errors	ENST00000564996	ensembl	human	known	74_37	missense	13.33		SNP	1.000	T	4	26
TBC1D22A	25771	genome.wustl.edu	37	22	47243832	47243853	+	Intron	DEL	GTGTGTGTGTGTGTGTGTGTGC	GTGTGTGTGTGTGTGTGTGTGC	-	rs146524849|rs143664618|rs62233855|rs62233856|rs137955823	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	GTGTGTGTGTGTGTGTGTGTGC	GTGTGTGTGTGTGTGTGTGTGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr22:47243832_47243853delGTGTGTGTGTGTGTGTGTGTGC	ENST00000337137.4	+	5	803				TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Intron|Z97351.1_ENST00000408745.1_RNA|TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000355704.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A								protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		gtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgCGCGCGCGCAC	0.473													ENSG00000221672																																					0																																										SO:0001627	intron_variant	0				AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.638-30696GTGTGTGTGTGTGTGTGTGTGC>-	22.37:g.47243832_47243853delGTGTGTGTGTGTGTGTGTGTGC			B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	R	DEL	-	NULL	ENST00000337137.4	37	NULL	CCDS14078.1	22																																																																																				Z97351.1	-	-		0.473	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221672	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317600.3									GTGTGTGTGTGTGTGTGTGTGC	NM_014346		47243853	+1					tier1	no_errors	ENST00000408745	ensembl	human	novel	74_37	rna			DEL	0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.003:0.002:0.002:0.003:0.004:0.001	-		
ITIH4	3700	genome.wustl.edu	37	3	52853932	52853932	+	Intron	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:52853932T>C	ENST00000266041.4	-	15	2009				ITIH4_ENST00000467462.1_5'Flank|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000434759.3_Missense_Mutation_p.R558G|ITIH4_ENST00000485816.1_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAATCTCCCCTCCCCCCACCT	0.532													ENSG00000055955																																					0													164.0	176.0	172.0					3																	52853932		2203	4300	6503	SO:0001627	intron_variant	0			-	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1912+23A>G	3.37:g.52853932T>C			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	pfam_VWF_A,pfam_VIT,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R558G	ENST00000266041.4	37	c.1672	CCDS2865.1	3	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826970	0.16749	.	.	ENSG00000055955	ENST00000434759	T	0.02682	4.2	3.21	-2.06	0.07298	.	.	.	.	.	T	0.02533	0.0077	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48725	-0.9010	5	.	.	.	.	7.5887	0.28008	0.0:0.5409:0.0:0.4591	.	.	.	.	G	558	ENSP00000440036:R558G	.	R	-	1	2	ITIH4	52828972	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.309000	0.01130	-0.411000	0.07530	-0.464000	0.05259	AGG	-	ITIH4	-	NULL		0.532	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	0	0		61	61		0.00		T	NM_002218		52853932	-1	4		40		tier1	no_errors	ENST00000434759	ensembl	human	known	74_37	missense	9.09		SNP	0.000	C	4	40
TMEM104	54868	genome.wustl.edu	37	17	72832223	72832223	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:72832223C>T	ENST00000335464.5	+	10	1050	c.888C>T	c.(886-888)ccC>ccT	p.P296P	TMEM104_ENST00000582330.1_Silent_p.P296P|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	296						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATTACCCCCGTCTCCTCCA	0.617													ENSG00000109066																																					0													192.0	139.0	157.0					17																	72832223		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.888C>T	17.37:g.72832223C>T			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.P296	ENST00000335464.5	37	c.888	CCDS32723.1	17																																																																																			-	TMEM104	-	pfam_AA_transpt_TM		0.617	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	0	0		36	36		0.00		C	NM_017728		72832223	+1	3		16		tier1	no_errors	ENST00000335464	ensembl	human	known	74_37	silent	15.79		SNP	0.849	T	3	16
DST	667	genome.wustl.edu	37	6	56485078	56485078	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:56485078G>T	ENST00000370765.6	-	23	3861	c.3754C>A	c.(3754-3756)Ctg>Atg	p.L1252M	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATCTTCCAGTGTTCGTCTG	0.393													ENSG00000151914																																					0													75.0	80.0	78.0					6																	56485078		2203	4300	6503	SO:0001583	missense	0			-	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3754C>A	6.37:g.56485078G>T	ENSP00000359801:p.Leu1252Met		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L1252M	ENST00000370765.6	37	c.3754	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103160	0.20632	.	.	ENSG00000151914	ENST00000370765	T	0.35789	1.29	4.6	0.539	0.17156	.	.	.	.	.	T	0.38054	0.1026	.	.	.	0.22842	N	0.99867	D	0.67145	0.996	D	0.66979	0.948	T	0.27191	-1.0081	7	0.40728	T	0.16	.	9.9758	0.41783	0.3925:0.0:0.6075:0.0	.	1252	Q03001-3	.	M	1252	ENSP00000359801:L1252M	ENSP00000359801:L1252M	L	-	1	2	DST	56593037	0.998000	0.40836	0.252000	0.24328	0.324000	0.28378	2.670000	0.46833	0.207000	0.20607	-1.012000	0.02466	CTG	-	DST	-	NULL		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	0	0		25	25		0.00		G	NM_001723		56485078	-1	4		19		tier1	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	17.39		SNP	0.018	T	4	19
MAOA	4128	genome.wustl.edu	37	X	43571984	43571984	+	Silent	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chrX:43571984T>C	ENST00000338702.3	+	5	567	c.444T>C	c.(442-444)caT>caC	p.H148H	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Silent_p.H15H	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	148					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGGCTCAACATGCTGACAAAT	0.443													ENSG00000189221																																					0													112.0	92.0	99.0					X																	43571984		2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.444T>C	X.37:g.43571984T>C			B4DF46|Q16426	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_D-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.H148	ENST00000338702.3	37	c.444	CCDS14260.1	X																																																																																			-	MAOA	-	pfam_Amino_oxidase		0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	0	0		45	45		0.00		T	NM_000240		43571984	+1	11		21		tier1	no_errors	ENST00000338702	ensembl	human	known	74_37	silent	34.38		SNP	0.967	C	11	21
TCL6	27004	genome.wustl.edu	37	14	96134782	96134782	+	RNA	SNP	G	G	A	rs556889158	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:96134782G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AAACGTGACCGAAAGCCACGC	0.483			T	TRA@	T-ALL								ENSG00000187621	G|||	2	0.000399361	0.0	0.0	5008	,	,		21959	0.0		0.001	False		,,,				2504	0.001							Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0													82.0	85.0	84.0					14																	96134782		2203	4300	6503			0			-	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134782G>A				R	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			-	TCL6	-	-		0.483	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	0	0		14	14		0.00		G	NM_012468		96134782	+1	9		7		tier1	no_errors	ENST00000352367	ensembl	human	known	74_37	rna	56.25		SNP	0.003	A	9	7
SDHAF2	54949	genome.wustl.edu	37	11	61205586	61205586	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:61205586G>T	ENST00000534878.1	+	3	394	c.371G>T	c.(370-372)gGt>gTt	p.G124V	SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000301761.2_Splice_Site|SDHAF2_ENST00000542074.1_Intron					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TGGGCCACAGGTACTGGGTAT	0.378													ENSG00000167985																																					0													124.0	116.0	119.0					11																	61205586		2202	4299	6501	SO:0001583	missense	0			-	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000534878.1:c.371G>T	11.37:g.61205586G>T	ENSP00000471030:p.Gly124Val			Splice_Site	SNP	-	e3+1	ENST00000534878.1	37	c.370+1		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.829091|4.829091	0.90955|0.90955	.|.	.|.	ENSG00000167985|ENSG00000256591	ENST00000301761|ENST00000541135	.|T	.|0.80214	.|-1.35	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	.|D	.|0.87900	.|0.6294	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86178	.|0.1604	.|5	.|.	.|.	.|.	.|-16.6064	19.07|19.07	0.93130|0.93130	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|124	.|ENSP00000443130:G124V	.|.	.|G	+|+	.|2	.|0	SDHAF2|RP11-286N22.8	60962162|60962162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.567000|8.567000	0.90737|0.90737	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	.|GGT	-	SDHAF2	-	-		0.378	SDHAF2-005	PUTATIVE	basic	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000398440.2	0	0		38	38		0.00		G	NM_017841		61205586	+1	4		41		tier1	no_errors	ENST00000301761	ensembl	human	known	74_37	splice_site	8.89		SNP	1.000	T	4	41
SLCO6A1	133482	genome.wustl.edu	37	5	101794149	101794149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:101794149delA	ENST00000506729.1	-	6	1239	c.1068delT	c.(1066-1068)tttfs	p.F356fs	SLCO6A1_ENST00000389019.3_Frame_Shift_Del_p.F294fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Del_p.F356fs|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTCTGCTGTCAAAAAAATGAA	0.299													ENSG00000205359																																					0													141.0	141.0	141.0					5																	101794149		2202	4298	6500	SO:0001589	frameshift_variant	0				AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1068delT	5.37:g.101794149delA	ENSP00000421339:p.Phe356fs		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.F356fs	ENST00000506729.1	37	c.1068	CCDS34206.1	5																																																																																				SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.299	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	0	0		41	41		0.00		A	NM_173488		101794149	-1	4		32		tier1	no_errors	ENST00000379807	ensembl	human	known	74_37	frame_shift_del	11.11		DEL	0.000	-	4	32
SULT6B1	391365	genome.wustl.edu	37	2	37406711	37406711	+	Missense_Mutation	SNP	C	C	T	rs11569744	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:37406711C>T	ENST00000535679.1	-	4	418	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R102Q|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R102Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	140						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.R102>?(1)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTTAGGGTTTCGAAATATCAC	0.358													ENSG00000138068	C|||	4	0.000798722	0.003	0.0	5008	,	,		19100	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|lung(1)						C	GLN/ARG	27,4379	27.2+/-55.0	0,27,2176	101.0	101.0	101.0		305	3.4	1.0	2	dbSNP_126	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SULT6B1	NM_001032377.1	43	0,29,6474	TT,TC,CC		0.0233,0.6128,0.223	probably-damaging	102/266	37406711	29,12977	2203	4300	6503	SO:0001583	missense	0			-	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.419G>A	2.37:g.37406711C>T	ENSP00000444081:p.Arg140Gln		B2RTS7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R140Q	ENST00000535679.1	37	c.419		2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021097	0.75275	0.006128	2.33E-4	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.69040	-0.37;-0.37;-0.37	4.27	3.39	0.38822	Sulfotransferase domain (1);	0.066755	0.64402	D	0.000016	D	0.84502	0.5486	H	0.98965	4.385	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.89281	0.3612	10	0.87932	D	0	.	11.513	0.50504	0.0:0.9092:0.0:0.0908	rs11569744;rs45566432;rs11569744	140	Q6IMI4	ST6B1_HUMAN	Q	140;102;102	ENSP00000444081:R140Q;ENSP00000260637:R102Q;ENSP00000384950:R102Q	ENSP00000260637:R102Q	R	-	2	0	SULT6B1	37260215	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.121000	0.50438	1.152000	0.42452	0.561000	0.74099	CGA	rs11569744	SULT6B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.358	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		0	0		37	37		0.00		C	NM_001032377		37406711	-1	8		24		tier1	no_errors	ENST00000535679	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	8	24
PRDM16	63976	genome.wustl.edu	37	1	3342727	3342727	+	Silent	SNP	G	G	T	rs541306513	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:3342727G>T	ENST00000270722.5	+	14	3271	c.3222G>T	c.(3220-3222)tcG>tcT	p.S1074S	PRDM16_ENST00000378391.2_Silent_p.S1074S|PRDM16_ENST00000378398.3_Silent_p.S1074S|PRDM16_ENST00000514189.1_Silent_p.S1074S|PRDM16_ENST00000441472.2_Silent_p.S1073S|PRDM16_ENST00000442529.2_Silent_p.S1073S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.S1075S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1074	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTTATTTCTCGGAAATCAGAA	0.517			T	EVI1	"""MDS, AML"""								ENSG00000142611																												Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													96.0	103.0	101.0					1																	3342727		1960	4140	6100	SO:0001819	synonymous_variant	0			-	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3222G>T	1.37:g.3342727G>T			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S1074	ENST00000270722.5	37	c.3222	CCDS41236.2	1																																																																																			-	PRDM16	-	NULL		0.517	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	0	0		83	83		0.00		G	NM_022114		3342727	+1	45		38		tier1	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	54.22		SNP	0.254	T	45	38
DNAH8	1769	genome.wustl.edu	37	6	38794123	38794123	+	Missense_Mutation	SNP	C	C	T	rs368700966		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:38794123C>T	ENST00000359357.3	+	27	3642	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1347C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1130C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1130					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCTTGCATACGTGATAATGA	0.294													ENSG00000124721																																					0								C	CYS/ARG	0,4406		0,0,2203	104.0	102.0	103.0		4039	5.4	1.0	6		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH8	NM_001206927.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1347/4708	38794123	1,13005	2203	4300	6503	SO:0001583	missense	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3388C>T	6.37:g.38794123C>T	ENSP00000352312:p.Arg1130Cys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1130C	ENST00000359357.3	37	c.3388		6	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433328	0.83776	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.30448	1.6;1.6;1.53	5.44	5.44	0.79542	.	0.116044	0.64402	D	0.000014	T	0.56108	0.1963	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63950	-0.6521	10	0.87932	D	0	.	17.516	0.87773	0.0:1.0:0.0:0.0	.	1130	Q96JB1	DYH8_HUMAN	C	1335;1335;1130;1130	ENSP00000333363:R1335C;ENSP00000352312:R1130C;ENSP00000402294:R1130C	ENSP00000333363:R1335C	R	+	1	0	DNAH8	38902101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.846000	0.69444	2.587000	0.87381	0.545000	0.68477	CGT	-	DH8	-	NULL		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0		38	38		0.00		C	NM_001206927		38794123	+1	12		16		tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	42.86		SNP	1.000	T	12	16
PARP10	84875	genome.wustl.edu	37	8	145057487	145057487	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr8:145057487C>T	ENST00000313028.7	-	8	2364	c.2270G>A	c.(2269-2271)tGc>tAc	p.C757Y	PARP10_ENST00000524918.1_Missense_Mutation_p.C748Y|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.C769Y	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	757	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACACCATGGCACCGCTCCAG	0.701													ENSG00000178685																																					0													26.0	26.0	26.0					8																	145057487		2201	4298	6499	SO:0001583	missense	0			-	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2270G>A	8.37:g.145057487C>T	ENSP00000325618:p.Cys757Tyr		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.C757Y	ENST00000313028.7	37	c.2270	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	6.377	0.437697	0.12104	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.09911	2.93;2.93;2.93	5.11	4.1	0.47936	.	0.365001	0.23756	N	0.044864	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	1	B;B	0.22480	0.07;0.07	B;B	0.23018	0.043;0.043	T	0.24870	-1.0148	10	0.26408	T	0.33	.	8.3081	0.32055	0.0:0.851:0.0:0.149	.	769;757	E9PNI7;Q53GL7	.;PAR10_HUMAN	Y	748;463;757;769	ENSP00000431620:C748Y;ENSP00000325618:C757Y;ENSP00000434776:C769Y	ENSP00000325618:C757Y	C	-	2	0	PARP10	145129475	0.000000	0.05858	0.050000	0.19076	0.014000	0.08584	0.150000	0.16263	2.397000	0.81536	0.546000	0.68486	TGC	-	PARP10	-	NULL		0.701	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	0	0		57	57		0.00		C	NM_032789		145057487	-1	13		36		tier1	no_errors	ENST00000313028	ensembl	human	known	74_37	missense	26.53		SNP	0.010	T	13	36
MSH4	4438	genome.wustl.edu	37	1	76276463	76276463	+	Silent	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:76276463T>C	ENST00000263187.3	+	4	774	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	224					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCCACCAAGTTGTTCACTCT	0.279								Mismatch excision repair (MMR)					ENSG00000057468																																					0													74.0	75.0	75.0					1																	76276463		2203	4297	6500	SO:0001819	synonymous_variant	0			-	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.670T>C	1.37:g.76276463T>C			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C	p.L224	ENST00000263187.3	37	c.670	CCDS670.1	1																																																																																			-	MSH4	-	pfam_D_mmatch_repair_MutS_con_dom,superfamily_D_mmatch_repair_MutS_con_dom		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	0	0		66	66		0.00		T	NM_002440		76276463	+1	21		25		tier1	no_errors	ENST00000263187	ensembl	human	known	74_37	silent	45.65		SNP	1.000	C	21	25
ASB13	79754	genome.wustl.edu	37	10	5682032	5682032	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr10:5682032C>T	ENST00000357700.6	-	0	1497				ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GGCCTTCCCCCACAAAGACCC	0.493													ENSG00000196372																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.*634G>A	10.37:g.5682032C>T			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	R	SNP	-	NULL	ENST00000357700.6	37	NULL	CCDS7070.1	10																																																																																			-	ASB13	-	-		0.493	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	0	0		69	69		0.00		C			5682032	-1	4		41		tier1	no_errors	ENST00000479033	ensembl	human	known	74_37	rna	8.89		SNP	0.000	T	4	41
ARG2	384	genome.wustl.edu	37	14	68087671	68087671	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:68087671C>T	ENST00000261783.3	+	2	352	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	58					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GATGAAAAGGCTCTCCAGTTT	0.433													ENSG00000081181																																					0													178.0	164.0	169.0					14																	68087671		2203	4300	6503	SO:0001583	missense	0			-	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.172C>T	14.37:g.68087671C>T	ENSP00000261783:p.Leu58Phe		B2R690|Q6FHY8	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.L58F	ENST00000261783.3	37	c.172	CCDS9785.1	14	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858085	0.71834	.	.	ENSG00000081181	ENST00000261783	T	0.50001	0.76	5.03	5.03	0.67393	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80020	-0.1557	10	0.62326	D	0.03	.	15.3783	0.74630	0.0:1.0:0.0:0.0	.	58	P78540	ARGI2_HUMAN	F	58	ENSP00000261783:L58F	ENSP00000261783:L58F	L	+	1	0	ARG2	67157424	1.000000	0.71417	0.986000	0.45419	0.798000	0.45092	4.034000	0.57289	2.618000	0.88619	0.655000	0.94253	CTC	-	ARG2	-	pfam_Ureohydrolase,tigrfam_Arginase		0.433	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	HGNC	protein_coding	OTTHUMT00000415190.2	0	0		56	56		0.00		C	NM_001172		68087671	+1	5		24		tier1	no_errors	ENST00000261783	ensembl	human	known	74_37	missense	17.24		SNP	1.000	T	5	24
KRT16P6	353194	genome.wustl.edu	37	17	16722353	16722353	+	RNA	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:16722353G>A	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							TGGTTCTGCTGCTCCATCTCG	0.612													ENSG00000226145																																					0																																												0			-																													17.37:g.16722353G>A				R	SNP	-	NULL	ENST00000602730.1	37	NULL		17																																																																																			-	AC022596.6	-	-		0.612	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226145	Clone_based_vega_gene	processed_transcript	OTTHUMT00000468034.1	0	0		85	85		0.00		G			16722353	-1	30		16		tier1	no_errors	ENST00000417510	ensembl	human	known	74_37	rna	65.22		SNP	1.000	A	30	16
ZAP70	7535	genome.wustl.edu	37	2	98340859	98340859	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:98340859C>T	ENST00000264972.5	+	3	575	c.360C>T	c.(358-360)gaC>gaT	p.D120D	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	120	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTGCGAGACGCCATGGTGC	0.726													ENSG00000115085																																					0													5.0	6.0	6.0					2																	98340859		2012	3995	6007	SO:0001819	synonymous_variant	0			-	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.360C>T	2.37:g.98340859C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D120	ENST00000264972.5	37	c.360	CCDS33254.1	2																																																																																			-	ZAP70	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.726	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	0	0		14	14		0.00		C			98340859	+1	7		7		tier1	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	50.00		SNP	0.911	T	7	7
ASTE1	28990	genome.wustl.edu	37	3	130743806	130743806	+	Silent	SNP	A	A	G			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:130743806A>G	ENST00000264992.3	-	3	786	c.345T>C	c.(343-345)tgT>tgC	p.C115C	NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|ASTE1_ENST00000514044.1_Silent_p.C115C|NEK11_ENST00000510769.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	115					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TGAGTAAGGGACATACGTACC	0.443													ENSG00000034533																																					0													109.0	102.0	104.0					3																	130743806		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.345T>C	3.37:g.130743806A>G			B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	pfam_XPG_D_repair_N	p.C115	ENST00000264992.3	37	c.345	CCDS3068.1	3																																																																																			-	ASTE1	-	NULL		0.443	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	0	0		39	39		0.00		A	NM_014065		130743806	-1	4		22		tier1	no_errors	ENST00000264992	ensembl	human	known	74_37	silent	15.38		SNP	0.064	G	4	22
NLRX1	79671	genome.wustl.edu	37	11	119053027	119053027	+	Missense_Mutation	SNP	G	G	T	rs199476053		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:119053027G>T	ENST00000409109.1	+	9	3166	c.2579G>T	c.(2578-2580)cGg>cTg	p.R860L	NLRX1_ENST00000292199.2_Missense_Mutation_p.R860L|NLRX1_ENST00000525863.1_Missense_Mutation_p.R860L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R860L|NLRX1_ENST00000409265.4_Missense_Mutation_p.R860L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	860	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGAGCTGCCCGGGAGCACCCT	0.642													ENSG00000160703																																					0													56.0	60.0	59.0					11																	119053027		2200	4295	6495	SO:0001583	missense	0			-	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2579G>T	11.37:g.119053027G>T	ENSP00000387334:p.Arg860Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase	p.R860L	ENST00000409109.1	37	c.2579	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	g	8.030	0.761589	0.15914	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.37	0.399	0.16325	.	1.346490	0.04866	N	0.445060	T	0.39200	0.1069	L	0.48260	1.515	0.21579	N	0.99963	P;B	0.36438	0.553;0.22	B;B	0.28849	0.095;0.06	T	0.32851	-0.9891	10	0.49607	T	0.09	.	8.7472	0.34594	0.4832:0.0:0.5168:0.0	.	860;860	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	860	ENSP00000386851:R860L;ENSP00000292199:R860L;ENSP00000386858:R860L;ENSP00000387334:R860L;ENSP00000433442:R860L	ENSP00000292199:R860L	R	+	2	0	NLRX1	118558237	0.883000	0.30277	0.650000	0.29550	0.327000	0.28475	2.809000	0.47971	-0.072000	0.12864	-1.906000	0.00525	CGG	-	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.642	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	0	0		59	59		0.00		G	NM_170722		119053027	+1	4		32		tier1	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	11.11		SNP	0.560	T	4	32
ASIC1	41	genome.wustl.edu	37	12	50480064	50480064	+	IGR	SNP	C	C	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:50480064C>A	ENST00000447966.2	+	0	3778				SMARCD1_ENST00000381513.4_Missense_Mutation_p.R100S|SMARCD1_ENST00000394963.4_Missense_Mutation_p.R100S|SMARCD1_ENST00000548573.1_5'Flank	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGATCAGTCCCGCAAGAGACC	0.617													ENSG00000066117																																					0													44.0	46.0	45.0					12																	50480064		2203	4300	6503	SO:0001628	intergenic_variant	0			-	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812		12.37:g.50480064C>A			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.R100S	ENST00000447966.2	37	c.298	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508867	0.44660	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	D;D;T	0.84589	-1.87;-1.87;0.61	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	L	0.40543	1.245	0.80722	D	1	D;B;B	0.64830	0.994;0.182;0.273	D;B;B	0.63793	0.918;0.155;0.185	D	0.83708	0.0186	10	0.21540	T	0.41	-5.038	13.8143	0.63281	0.0:0.9255:0.0:0.0745	.	100;100;100	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	S	100;100;100;100;38	ENSP00000378414:R100S;ENSP00000370924:R100S;ENSP00000449825:R38S	ENSP00000370924:R100S	R	+	1	0	SMARCD1	48766331	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.748000	0.62148	1.257000	0.44085	-0.145000	0.13849	CGC	-	SMARCD1	-	NULL		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000406004.2	0	0		47	47		0.00		C	NM_020039		50480064	+1	3		16		tier1	no_errors	ENST00000394963	ensembl	human	known	74_37	missense	15.79		SNP	1.000	A	3	16
NRBP1	29959	genome.wustl.edu	37	2	27656657	27656658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:27656657_27656658insA	ENST00000233557.3	+	4	1160_1161	c.328_329insA	c.(328-330)cagfs	p.Q110fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.Q110fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.Q110fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTACAAGCTGCAGGAGGTAGGT	0.49													ENSG00000115216																																					0																																										SO:0001589	frameshift_variant	0				AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.329dupA	2.37:g.27656658_27656658dupA	ENSP00000233557:p.Gln110fs		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E111fs	ENST00000233557.3	37	c.328_329	CCDS1753.1	2																																																																																				NRBP1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.490	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	0	0		54	54		0.00		-	NM_013392		27656658	+1	2		13		tier1	no_errors	ENST00000233557	ensembl	human	known	74_37	frame_shift_ins	13.33		INS	1.000:1.000	A	2	13
SLC25A15	10166	genome.wustl.edu	37	13	41367321	41367321	+	5'UTR	SNP	A	A	G	rs371080447		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr13:41367321A>G	ENST00000338625.4	+	0	195				SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15						cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CATAAGCTCCAGAGAGCTGCC	0.542													ENSG00000102743																																					0								A		0,4406		0,0,2203	78.0	62.0	67.0			-0.8	0.0	13		67	2,8598	2.2+/-6.3	0,2,4298	no	utr-5	SLC25A15	NM_014252.3		0,2,6501	GG,GA,AA		0.0233,0.0,0.0154			41367321	2,13004	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.-42A>G	13.37:g.41367321A>G			Q5VZD8|Q9HC45	R	SNP	-	NULL	ENST00000338625.4	37	NULL	CCDS9373.1	13																																																																																			-	SLC25A15	-	-		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A15	HGNC	protein_coding	OTTHUMT00000276149.2	0	0		37	37		0.00		A	NM_014252		41367321	+1	3		14		tier1	no_errors	ENST00000478827	ensembl	human	known	74_37	rna	17.65		SNP	0.011	G	3	14
SRGAP3	9901	genome.wustl.edu	37	3	9057425	9057425	+	Intron	SNP	A	A	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:9057425A>T	ENST00000383836.3	-	15	2106				SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_Intron|SRGAP3_ENST00000360413.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTGAGTGGAAACAAGAGACG	0.478			T	RAF1	pilocytic astrocytoma								ENSG00000224808																												Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													70.0	69.0	70.0					3																	9057425		2203	4300	6503	SO:0001627	intron_variant	0			-	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1679-10T>A	3.37:g.9057425A>T			Q8IX13|Q8IZV8	R	SNP	-	NULL	ENST00000383836.3	37	NULL	CCDS2572.1	3																																																																																			-	SRGAP3-AS1	-	-		0.478	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3-AS1	HGNC	protein_coding	OTTHUMT00000207137.3	0	0		35	35		0.00		A			9057425	+1	3		14		tier1	no_errors	ENST00000414633	ensembl	human	known	74_37	rna	17.65		SNP	0.001	T	3	14
CSMD2	114784	genome.wustl.edu	37	1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	rs139840174		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													ENSG00000121904	C|||	1	0.000199681	0.0008	0.0	5008	,	,		20872	0.0		0.0	False		,,,				2504	0.0																0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	156.0	159.0		9016	3.5	0.9	1	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSMD2	NM_052896.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3006/3488	34006739	3,13003	2203	4300	6503	SO:0001583	missense	0			-	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9448G>A	1.37:g.34006739C>T	ENSP00000362479:p.Val3150Ile		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V3150I	ENST00000373381.4	37	c.9448		1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316893	0.23908	2.27E-4	2.33E-4	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.45	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.328480	0.28360	N	0.015635	T	0.44664	0.1304	N	0.25485	0.75	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.009	T	0.34551	-0.9824	10	0.38643	T	0.18	.	6.9309	0.24442	0.0:0.7042:0.1433:0.1525	.	3006;3150	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	3150	ENSP00000362479:V3150I	ENSP00000241312:V3006I	V	-	1	0	CSMD2	33779326	0.525000	0.26290	0.855000	0.33649	0.875000	0.50365	0.980000	0.29513	1.311000	0.45024	0.455000	0.32223	GTC	rs139840174	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		0	0		75	75		0.00		C	NM_052896		34006739	-1	19		44		tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	30.16		SNP	0.683	T	19	44
SOHLH1	402381	genome.wustl.edu	37	9	138594181	138594181	+	5'Flank	DEL	C	C	-	rs143015526	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr9:138594181delC	ENST00000298466.5	-	0	0				SOHLH1_ENST00000425225.1_5'Flank|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.T26fs|KCNT1_ENST00000298480.5_Frame_Shift_Del_p.T26fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.T26fs	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCAACCGGACCTTCGAGTTT	0.731													ENSG00000107147																																					0													21.0	26.0	25.0					9																	138594181		2199	4297	6496	SO:0001631	upstream_gene_variant	0				BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915		9.37:g.138594181delC	Exception_encountered		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Frame_Shift_Del	DEL	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.F27fs	ENST00000298466.5	37	c.77	CCDS35174.1	9																																																																																				KCNT1	-	NULL		0.731	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNT1	HGNC	protein_coding	OTTHUMT00000055018.2	0	0		37	37		0.00		C	NM_001012415		138594181	+1	4		18		tier1	no_errors	ENST00000298480	ensembl	human	known	74_37	frame_shift_del	18.18		DEL	0.889	-	4	18
SNX14	57231	genome.wustl.edu	37	6	86224338	86224338	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:86224338C>T	ENST00000314673.3	-	24	2454	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	SNX14_ENST00000505648.1_Missense_Mutation_p.D708N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.D707N|SNX14_ENST00000369627.2_Missense_Mutation_p.D751N|SNX14_ENST00000513865.1_Missense_Mutation_p.D479N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	760					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTAAACAGATCATTGAAAAGC	0.308													ENSG00000135317																																					0													82.0	85.0	84.0					6																	86224338		2203	4294	6497	SO:0001583	missense	0			-	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2278G>A	6.37:g.86224338C>T	ENSP00000313121:p.Asp760Asn		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.D760N	ENST00000314673.3	37	c.2278	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479704	0.44044	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.32753	1.84;1.83;1.44;1.82;1.82;1.85	5.66	5.66	0.87406	.	0.095596	0.64402	D	0.000001	T	0.19805	0.0476	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.15930	0.015;0.007;0.005;0.015	B;B;B;B	0.13407	0.009;0.009;0.004;0.009	T	0.01982	-1.1235	10	0.49607	T	0.09	-21.5255	19.7532	0.96277	0.0:1.0:0.0:0.0	.	751;707;760;708	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	N	707;217;760;479;708;751;678;125	ENSP00000257769:D707N;ENSP00000313121:D760N;ENSP00000420938:D479N;ENSP00000427380:D708N;ENSP00000358641:D751N;ENSP00000425630:D678N	ENSP00000313121:D760N	D	-	1	0	SNX14	86281057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.682000	0.91365	0.650000	0.86243	GAT	-	SNX14	-	NULL		0.308	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	0	0		32	32		0.00		C	NM_153816		86224338	-1	4		32		tier1	no_errors	ENST00000314673	ensembl	human	known	74_37	missense	11.11		SNP	1.000	T	4	32
DHX35	60625	genome.wustl.edu	37	20	37597728	37597728	+	Silent	SNP	A	A	G			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr20:37597728A>G	ENST00000252011.3	+	2	78	c.45A>G	c.(43-45)acA>acG	p.T15T	DHX35_ENST00000373323.4_Silent_p.T15T|DHX35_ENST00000373325.2_Silent_p.T15T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	15					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGCAGGTACAGAGGGGCCAG	0.398													ENSG00000101452																																					0													65.0	55.0	59.0					20																	37597728		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.45A>G	20.37:g.37597728A>G			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T15	ENST00000252011.3	37	c.45	CCDS13310.1	20																																																																																			-	DHX35	-	NULL		0.398	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	0	0		45	45		0.00		A	NM_021931		37597728	+1	4		30		tier1	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	11.76		SNP	0.967	G	4	30
ACOT2	10965	genome.wustl.edu	37	14	74042189	74042189	+	Missense_Mutation	SNP	A	A	G	rs7494	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr14:74042189A>G	ENST00000238651.5	+	3	1606	c.1424A>G	c.(1423-1425)cAc>cGc	p.H475R	ACOT2_ENST00000538782.1_Missense_Mutation_p.H278R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	475			H -> R (in dbSNP:rs7494). {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGGGTGGCCACGAGGGGACA	0.478													ENSG00000119673																																					0													26.0	35.0	32.0					14																	74042189		1878	3779	5657	SO:0001583	missense	0			-	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1424A>G	14.37:g.74042189A>G	ENSP00000238651:p.His475Arg		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.H475R	ENST00000238651.5	37	c.1424	CCDS9816.1	14	950	0.434981684981685	109	0.22154471544715448	160	0.4419889502762431	459	0.8024475524475524	222	0.2928759894459103	A	4.955	0.177425	0.09443	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.39406	2.36;1.08	3.47	0.9	0.19278	.	1.633630	0.03548	N	0.225068	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37197	-0.9716	9	0.17832	T	0.49	10.0461	2.9076	0.05726	0.6566:0.0:0.1285:0.2148	rs7494;rs3174638;rs3742820	413;475;278	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	R	278;475	ENSP00000440961:H278R;ENSP00000238651:H475R	ENSP00000238651:H475R	H	+	2	0	ACOT2	73111942	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-0.054000	0.11826	-0.144000	0.11314	-0.558000	0.04189	CAC	rs7494	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.478	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	0	0		10	10		0.00		A	NM_006821		74042189	+1	4		6		tier1	no_errors	ENST00000238651	ensembl	human	known	74_37	missense	40.00		SNP	0.000	G	4	6
PLEKHM2	23207	genome.wustl.edu	37	1	16045048	16045048	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:16045048C>T	ENST00000375799.3	+	5	620	c.393C>T	c.(391-393)tgC>tgT	p.C131C	PLEKHM2_ENST00000375793.2_Silent_p.C131C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	131	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCCTGGTCTGCAGCCACGATC	0.547													ENSG00000116786																																					0													53.0	59.0	57.0					1																	16045048		2015	4175	6190	SO:0001819	synonymous_variant	0			-	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.393C>T	1.37:g.16045048C>T			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.C131	ENST00000375799.3	37	c.393	CCDS44063.1	1																																																																																			-	PLEKHM2	-	pfam_Run,smart_Run,pfscan_Run		0.547	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	0	0		26	26		0.00		C	NM_015164		16045048	+1	4		35		tier1	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	10.26		SNP	1.000	T	4	35
BSN	8927	genome.wustl.edu	37	3	49690071	49690071	+	Missense_Mutation	SNP	C	C	T	rs147015088		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:49690071C>T	ENST00000296452.4	+	5	3196	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1028					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCGGCACCGCTCCCACGG	0.642													ENSG00000164061	C|||	1	0.000199681	0.0	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.001																0								C	CYS/ARG	0,4406		0,0,2203	29.0	33.0	31.0		3082	5.0	1.0	3	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1028/3927	49690071	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3082C>T	3.37:g.49690071C>T	ENSP00000296452:p.Arg1028Cys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R1028C	ENST00000296452.4	37	c.3082	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410617	0.42715	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.37584	1.19	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.71656	0.974	T	0.66288	-0.5961	10	0.87932	D	0	.	15.4324	0.75112	0.0:0.8609:0.1391:0.0	.	1028	Q9UPA5	BSN_HUMAN	C	1028	ENSP00000296452:R1028C	ENSP00000296452:R1028C	R	+	1	0	BSN	49665075	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.921000	0.56454	2.330000	0.79161	0.561000	0.74099	CGC	rs147015088	BSN	-	NULL		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0		48	48		0.00		C	NM_003458		49690071	+1	4		21		tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	16.00		SNP	1.000	T	4	21
NDUFB2	4708	genome.wustl.edu	37	7	140398056	140398056	+	Intron	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr7:140398056G>T	ENST00000476279.1	+	1	172				NDUFB2_ENST00000476470.1_Intron|NDUFB2_ENST00000464564.2_Intron|NDUFB2_ENST00000461457.1_Intron|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000471136.1_Intron|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000204307.5_Missense_Mutation_p.R19L|NDUFB2_ENST00000465506.1_Intron|NDUFB2_ENST00000472695.1_Intron|NDUFB2_ENST00000247866.4_Intron|NDUFB2_ENST00000460088.1_Intron			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					GGGGAATGCCGATCTTCCCTG	0.502													ENSG00000090266																																					0													138.0	118.0	124.0					7																	140398056		876	1991	2867	SO:0001627	intron_variant	0			-	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.98+1414G>T	7.37:g.140398056G>T			Q6FGI6	Missense_Mutation	SNP	NULL	p.R19L	ENST00000476279.1	37	c.56	CCDS5862.1	7	.	.	.	.	.	.	.	.	.	.	G	6.312	0.425594	0.11987	.	.	ENSG00000090266	ENST00000204307	.	.	.	1.59	-2.02	0.07388	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28170	-1.0052	5	0.27082	T	0.32	.	4.3572	0.11185	0.0:0.2576:0.5315:0.211	.	.	.	.	L	19	.	ENSP00000204307:R19L	R	+	2	0	NDUFB2	140044525	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.080000	0.01368	-0.644000	0.05465	0.455000	0.32223	CGA	-	NDUFB2	-	NULL		0.502	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2	HGNC	protein_coding	OTTHUMT00000348784.1	0	0		45	45		0.00		G	NM_004546		140398056	+1	12		20		tier1	no_errors	ENST00000204307	ensembl	human	known	74_37	missense	37.50		SNP	0.000	T	12	20
MUC19	283463	genome.wustl.edu	37	12	40915329	40915329	+	Intron	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:40915329G>T	ENST00000454784.4	+	50	17408							Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						TGCCCACACAGGTCAGGAATT	0.478													ENSG00000205592																																					0																																										SO:0001627	intron_variant	0			-	AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.10891-21035G>T	12.37:g.40915329G>T			Q8NA85	R	SNP	-	NULL	ENST00000454784.4	37	NULL		12																																																																																			-	MUC19	-	-		0.478	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	0	0		81	81		0.00		G	XM_003403524		40915329	+1	14		12		tier1	no_errors	ENST00000398702	ensembl	human	known	74_37	rna	53.85		SNP	0.033	T	14	12
TMC6	11322	genome.wustl.edu	37	17	76117780	76117780	+	Missense_Mutation	SNP	C	C	T	rs536179551		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:76117780C>T	ENST00000590602.1	-	11	1399	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.E414K|TMC6_ENST00000392467.3_Missense_Mutation_p.E414K|TMC6_ENST00000589553.1_Missense_Mutation_p.E187K|TMC6_ENST00000322933.4_Missense_Mutation_p.E53K|TMC6_ENST00000591436.1_Missense_Mutation_p.E53K|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	414					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCCACTCGGCCAGCAGC	0.687													ENSG00000141524	C|||	1	0.000199681	0.0008	0.0	5008	,	,		15809	0.0		0.0	False		,,,				2504	0.0																0													8.0	10.0	9.0					17																	76117780		2021	4012	6033	SO:0001583	missense	0			-	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1240G>A	17.37:g.76117780C>T	ENSP00000465261:p.Glu414Lys		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E414K	ENST00000590602.1	37	c.1240	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417514	0.62622	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.61742	0.08;0.08;0.08	4.36	4.36	0.52297	.	0.177321	0.34531	N	0.003895	T	0.72606	0.3481	M	0.79123	2.44	0.34921	D	0.748401	D;D;D;D	0.76494	0.999;0.976;0.992;0.995	D;B;P;P	0.62955	0.909;0.432;0.705;0.738	T	0.82729	-0.0313	10	0.72032	D	0.01	-20.579	12.5541	0.56244	0.0:0.8328:0.1672:0.0	.	187;414;414;53	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	K	414;414;53	ENSP00000313408:E414K;ENSP00000376260:E414K;ENSP00000313479:E53K	ENSP00000313408:E414K	E	-	1	0	TMC6	73629375	0.871000	0.30034	0.962000	0.40283	0.040000	0.13550	2.895000	0.48648	1.955000	0.56771	0.313000	0.20887	GAG	-	TMC6	-	NULL		0.687	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	0	0		20	20		0.00		C			76117780	-1	7		10		tier1	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	41.18		SNP	0.993	T	7	10
CLGN	1047	genome.wustl.edu	37	4	141331038	141331038	+	Nonsense_Mutation	SNP	G	G	T	rs202031051		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:141331038G>T	ENST00000325617.5	-	4	670	c.230C>A	c.(229-231)tCa>tAa	p.S77*	CLGN_ENST00000537281.1_Nonsense_Mutation_p.S77*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.S77*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	77					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.S77*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTTGCTTTTGATAAGACCCA	0.289													ENSG00000153132																																					1	Substitution - Nonsense(1)	breast(1)											72.0	76.0	75.0					4																	141331038		2202	4292	6494	SO:0001587	stop_gained	0			-	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.230C>A	4.37:g.141331038G>T	ENSP00000326699:p.Ser77*		B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.S77*	ENST00000325617.5	37	c.230	CCDS3751.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.021082	0.98006	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000509477	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9251	19.9534	0.97211	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000326699:S77X	S	-	2	0	CLGN	141550488	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.637000	0.91014	2.880000	0.98712	0.650000	0.86243	TCA	rs202031051	CLGN	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf		0.289	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	0	0		45	45		0.00		G	NM_004362		141331038	-1	3		16		tier1	no_errors	ENST00000325617	ensembl	human	known	74_37	nonsense	15.79		SNP	1.000	T	3	16
F2	2147	genome.wustl.edu	37	11	46747683	46747683	+	Silent	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:46747683G>T	ENST00000311907.5	+	7	890	c.834G>T	c.(832-834)ggG>ggT	p.G278G	F2_ENST00000530231.1_Silent_p.G278G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	278	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ATGTGGCCGGGAAGCCTGGCG	0.582													ENSG00000180210																									Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													74.0	85.0	81.0					11																	46747683		2201	4299	6500	SO:0001819	synonymous_variant	0			-	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.834G>T	11.37:g.46747683G>T			B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.G278	ENST00000311907.5	37	c.834	CCDS31476.1	11																																																																																			-	F2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle		0.582	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	0	0		34	34		0.00		G			46747683	+1	8		21		tier1	no_errors	ENST00000311907	ensembl	human	known	74_37	silent	27.59		SNP	0.000	T	8	21
MUC3A	4584	genome.wustl.edu	37	7	100608194	100608195	+	Intron	INS	-	-	GTCTGGG			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr7:100608194_100608195insGTCTGGG	ENST00000319509.7	+	6	2041				RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGGCCCCTCCACACTCCCCCA	0.614													ENSG00000225946																																					0																																										SO:0001627	intron_variant	0				AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2042-112->GTCTGGG	7.37:g.100608194_100608195insGTCTGGG			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	R	INS	-	NULL	ENST00000319509.7	37	NULL		7																																																																																				RP11-395B7.2	-	-		0.614	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1									-	XM_001725354		100608195	-1					tier1	no_errors	ENST00000420080	ensembl	human	known	74_37	rna			INS	0.001:0.000	GTCTGGG		
WWP2	11060	genome.wustl.edu	37	16	69832714	69832714	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr16:69832714G>T	ENST00000359154.2	+	3	301	c.200G>T	c.(199-201)tGg>tTg	p.W67L	WWP2_ENST00000356003.2_Missense_Mutation_p.W67L|WWP2_ENST00000569174.1_Missense_Mutation_p.W67L|WWP2_ENST00000448661.1_Missense_Mutation_p.W67L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	67	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGCTTCTCTGGAATGAGATC	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000198373																																					0													118.0	123.0	121.0					16																	69832714		2198	4300	6498	SO:0001583	missense	0			-	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.200G>T	16.37:g.69832714G>T	ENSP00000352069:p.Trp67Leu	1117	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.W67L	ENST00000359154.2	37	c.200	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569920	0.86542	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	D;D;D	0.83591	-1.74;-1.74;-1.74	6.03	5.07	0.68467	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.118294	0.64402	D	0.000007	D	0.89431	0.6713	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89177	0.3541	9	.	.	.	.	12.0827	0.53680	0.0792:0.0:0.9208:0.0	.	67	O00308	WWP2_HUMAN	L	67	ENSP00000352069:W67L;ENSP00000396871:W67L;ENSP00000348283:W67L	.	W	+	2	0	WWP2	68390215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.766000	0.91728	1.551000	0.49450	0.655000	0.94253	TGG	-	WWP2	-	superfamily_C2_dom,smart_C2_dom		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	0	0		52	52		0.00		G	NM_007014		69832714	+1	4		41		tier1	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	8.89		SNP	1.000	T	4	41
TTK	7272	genome.wustl.edu	37	6	80721152	80721152	+	Splice_Site	SNP	A	A	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:80721152A>T	ENST00000369798.2	+	6	726	c.615A>T	c.(613-615)gcA>gcT	p.A205A	TTK_ENST00000509894.1_Splice_Site_p.A205A|TTK_ENST00000230510.3_Splice_Site_p.A205A	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	205					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTTTACAGCATCTACGGTAT	0.313													ENSG00000112742																																					0													42.0	43.0	42.0					6																	80721152		2199	4297	6496	SO:0001630	splice_region_variant	0			-		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.614-1A>T	6.37:g.80721152A>T			A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A205	ENST00000369798.2	37	c.615	CCDS4993.1	6																																																																																			-	TTK	-	NULL		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	0	0		59	59		0.00		A		Silent	80721152	+1	4		27		tier1	no_errors	ENST00000369798	ensembl	human	known	74_37	silent	12.90		SNP	0.058	T	4	27
ZNF80	7634	genome.wustl.edu	37	3	113955740	113955740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:113955740delT	ENST00000482457.2	-	1	685	c.182delA	c.(181-183)aacfs	p.N61fs	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AAGGAGGCTGTTTTTGTTAAA	0.473													ENSG00000174255																									GBM(23;986 1114 21716)												0													120.0	104.0	109.0					3																	113955740		2203	4300	6503	SO:0001589	frameshift_variant	0				X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.182delA	3.37:g.113955740delT	ENSP00000417192:p.Asn61fs		Q6NSW4|Q6NT14	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N61fs	ENST00000482457.2	37	c.182	CCDS2979.1	3																																																																																				ZNF80	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	HGNC	protein_coding	OTTHUMT00000354696.2	0	0		33	33		0.00		T	NM_007136		113955740	-1	3		28		tier1	no_errors	ENST00000308095	ensembl	human	known	74_37	frame_shift_del	9.68		DEL	0.000	-	3	28
RCL1	10171	genome.wustl.edu	37	9	4849484	4849484	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr9:4849484T>C	ENST00000381750.4	+	8	1128	c.905T>C	c.(904-906)cTa>cCa	p.L302P	RCL1_ENST00000448872.2_Missense_Mutation_p.L116P|RCL1_ENST00000381728.1_Missense_Mutation_p.L116P|RCL1_ENST00000381730.1_Missense_Mutation_p.L116P|RP11-125K10.5_ENST00000443970.1_RNA|MIR101-2_ENST00000362195.2_RNA	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	302					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AGCCTGGCGCTACTACTCATG	0.448													ENSG00000120158																																					0													147.0	123.0	131.0					9																	4849484		2203	4300	6503	SO:0001583	missense	0			-	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.905T>C	9.37:g.4849484T>C	ENSP00000371169:p.Leu302Pro		D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	pfam_R3'_phos_cyclase_dom,pfam_R3'-term_phos_cycl_insert,superfamily_R3'P_cycl/enolpyr_Trfase_a/b,pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2	p.L302P	ENST00000381750.4	37	c.905	CCDS6456.1	9	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234607	0.58886	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (4);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.992	D;D	0.71184	0.972;0.943	D	0.89389	0.3687	9	0.87932	D	0	-12.5712	14.7139	0.69254	0.0:0.0:0.0:1.0	.	116;302	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	P	302;144;116;116;116;116	.	ENSP00000371147:L116P	L	+	2	0	RCL1	4839484	1.000000	0.71417	0.185000	0.23176	0.201000	0.24016	7.717000	0.84732	2.209000	0.71365	0.460000	0.39030	CTA	-	RCL1	-	pfam_R3'_phos_cyclase_dom,pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2		0.448	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	HGNC	protein_coding	OTTHUMT00000051587.1	0	0		52	52		0.00		T	NM_005772		4849484	+1	4		15		tier1	no_errors	ENST00000381750	ensembl	human	known	74_37	missense	21.05		SNP	0.999	C	4	15
KHDRBS2	202559	genome.wustl.edu	37	6	62757843	62757843	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:62757843C>T	ENST00000281156.4	-	3	554	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	92	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTTTCTTCCTGTAGCCTCT	0.373													ENSG00000112232																																					0													171.0	161.0	164.0					6																	62757843		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.276G>A	6.37:g.62757843C>T			A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.Q92	ENST00000281156.4	37	c.276	CCDS4963.1	6																																																																																			-	KHDRBS2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	0	0		46	46		0.00		C	NM_152688		62757843	-1	4		37		tier1	no_errors	ENST00000281156	ensembl	human	known	74_37	silent	9.76		SNP	1.000	T	4	37
PHRF1	57661	genome.wustl.edu	37	11	591456	591456	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:591456A>G	ENST00000264555.5	+	5	621	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	PHRF1_ENST00000413872.2_Missense_Mutation_p.I164V|PHRF1_ENST00000416188.2_Missense_Mutation_p.I165V|PHRF1_ENST00000533464.1_Missense_Mutation_p.I161V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	165					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGTGGTAAAATCTTAAGAAA	0.473													ENSG00000070047																																					0													105.0	98.0	100.0					11																	591456		1962	4162	6124	SO:0001583	missense	0			-	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.493A>G	11.37:g.591456A>G	ENSP00000264555:p.Ile165Val		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I165V	ENST00000264555.5	37	c.493		11	.	.	.	.	.	.	.	.	.	.	A	5.210	0.224280	0.09863	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.75704	-0.96;-0.94;-0.94;-0.94	4.04	-2.36	0.06663	Zinc finger, FYVE/PHD-type (1);	0.739110	0.11044	N	0.605800	T	0.56202	0.1969	L	0.32530	0.975	0.32325	N	0.561946	B;B;B;B	0.18166	0.015;0.026;0.026;0.015	B;B;B;B	0.15484	0.006;0.013;0.013;0.006	T	0.53143	-0.8480	10	0.07482	T	0.82	-10.8606	10.4185	0.44335	0.5181:0.0:0.4819:0.0	.	161;164;165;165	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	165;164;165;161	ENSP00000264555:I165V;ENSP00000388589:I164V;ENSP00000410626:I165V;ENSP00000431870:I161V	ENSP00000264555:I165V	I	+	1	0	PHRF1	581456	0.995000	0.38212	0.595000	0.28798	0.403000	0.30841	0.339000	0.19875	-0.368000	0.08040	-0.500000	0.04577	ATC	-	PHRF1	-	superfamily_Znf_FYVE_PHD		0.473	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	0	0		37	37		0.00		A	NM_020901		591456	+1	16		25		tier1	no_errors	ENST00000264555	ensembl	human	known	74_37	missense	39.02		SNP	0.682	G	16	25
THOC1	9984	genome.wustl.edu	37	18	260283	260283	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr18:260283G>T	ENST00000261600.6	-	5	285	c.278C>A	c.(277-279)cCt>cAt	p.P93H	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	93					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAATACAAAAGGTGTAGATGC	0.338													ENSG00000079134																																					0													61.0	53.0	55.0					18																	260283		1843	4087	5930	SO:0001583	missense	0			-	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.278C>A	18.37:g.260283G>T	ENSP00000261600:p.Pro93His		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	p.P93H	ENST00000261600.6	37	c.278	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521554	0.44866	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87174	0.2223	9	0.66056	D	0.02	-9.8401	19.5751	0.95439	0.0:0.0:1.0:0.0	.	93;93	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	H	93	.	ENSP00000261600:P93H	P	-	2	0	THOC1	250283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.719000	0.93026	0.585000	0.79938	CCT	-	THOC1	-	pfam_THO_THOC1		0.338	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	0	0		20	20		0.00		G	NM_005131		260283	-1	4		23		tier1	no_errors	ENST00000261600	ensembl	human	known	74_37	missense	14.81		SNP	1.000	T	4	23
ABCF3	55324	genome.wustl.edu	37	3	183910980	183910980	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:183910980G>A	ENST00000429586.2	+	19	2026	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.G608D	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	614	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGTCTGGGGGCCAGAAGAGC	0.597													ENSG00000161204																																					0													82.0	79.0	80.0					3																	183910980		2203	4300	6503	SO:0001583	missense	0			-	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1841G>A	3.37:g.183910980G>A	ENSP00000411471:p.Gly614Asp		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G614D	ENST00000429586.2	37	c.1841	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676219	0.88445	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.99382	-5.8;-5.8	5.1	5.1	0.69264	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	-24.089	17.6935	0.88275	0.0:0.0:1.0:0.0	.	608;614	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	D	614;608	ENSP00000411471:G614D;ENSP00000292808:G608D	ENSP00000292808:G608D	G	+	2	0	ABCF3	185393674	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.601000	0.98297	2.650000	0.89964	0.563000	0.77884	GGC	-	ABCF3	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	0	0		59	59		0.00		G	NM_018358		183910980	+1	12		30		tier1	no_errors	ENST00000429586	ensembl	human	known	74_37	missense	28.57		SNP	1.000	A	12	30
ITGA1	3672	genome.wustl.edu	37	5	52183738	52183738	+	Silent	SNP	C	C	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:52183738C>A	ENST00000282588.6	+	8	1323	c.865C>A	c.(865-867)Cga>Aga	p.R289R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	289	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACAATCATCGACTGAAGAA	0.428													ENSG00000213949																																					0													123.0	115.0	118.0					5																	52183738		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.865C>A	5.37:g.52183738C>A			B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R289	ENST00000282588.6	37	c.865	CCDS3955.1	5																																																																																			-	ITGA1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	0	0		42	42		0.00		C	NM_181501		52183738	+1	4		41		tier1	no_errors	ENST00000282588	ensembl	human	known	74_37	silent	8.89		SNP	0.000	A	4	41
CDON	50937	genome.wustl.edu	37	11	125825708	125825715	+	3'UTR	DEL	ATAGGCCT	ATAGGCCT	-	rs627761	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	ATAGGCCT	ATAGGCCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:125825708_125825715delATAGGCCT	ENST00000392693.3	-	0	9113_9120				RP11-680F20.12_ENST00000582823.1_RNA|RP11-680F20.6_ENST00000531193.1_RNA|RP11-680F20.6_ENST00000524962.2_RNA|RP11-680F20.6_ENST00000529072.1_RNA	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TATGCTCTTCATAGGCCTTGAAACACCA	0.519													ENSG00000254967																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.*5129AGGCCTAT>-	11.37:g.125825708_125825715delATAGGCCT			O14631	Splice_Site	DEL	-	NULL	ENST00000392693.3	37	c.NULL	CCDS58192.1	11																																																																																				RP11-680F20.6	-	-		0.519	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254967	Clone_based_vega_gene	protein_coding	OTTHUMT00000386749.2									ATAGGCCT	NM_016952		125825715	+1					tier1	no_errors	ENST00000524962	ensembl	human	known	74_37	splice_site_del			DEL	0.000:0.004:0.614:0.629:0.409:0.295:0.137:0.003	-		
USP4	7375	genome.wustl.edu	37	3	49373013	49373013	+	Silent	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr3:49373013G>T	ENST00000265560.4	-	2	164	c.118C>A	c.(118-120)Cgg>Agg	p.R40R	USP4_ENST00000415188.1_Silent_p.R40R|USP4_ENST00000351842.4_Silent_p.R40R|USP4_ENST00000416417.1_Silent_p.R40R	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	40	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGAACCACCGGCTGTCAATA	0.423													ENSG00000114316																																					0													108.0	101.0	103.0					3																	49373013		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.118C>A	3.37:g.49373013G>T			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.R40	ENST00000265560.4	37	c.118	CCDS2793.1	3																																																																																			-	USP4	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.423	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	0	0		34	34		0.00		G	NM_199443		49373013	-1	4		18		tier1	no_errors	ENST00000265560	ensembl	human	known	74_37	silent	18.18		SNP	1.000	T	4	18
INHA	3623	genome.wustl.edu	37	2	220439577	220439577	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:220439577G>C	ENST00000243786.2	+	2	610	c.430G>C	c.(430-432)Gcc>Ccc	p.A144P	OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	144					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCACAGCAGCCTCCAATAG	0.642													ENSG00000123999																																					0													37.0	34.0	35.0					2																	220439577		2203	4300	6503	SO:0001583	missense	0			-		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.430G>C	2.37:g.220439577G>C	ENSP00000243786:p.Ala144Pro		A8K8H5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu	p.A144P	ENST00000243786.2	37	c.430	CCDS2444.1	2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668777	0.29604	.	.	ENSG00000123999	ENST00000243786	D	0.85955	-2.05	4.84	-0.212	0.13169	.	0.671044	0.14541	N	0.313264	T	0.81908	0.4922	M	0.84683	2.71	0.20074	N	0.999937	B	0.22983	0.078	B	0.23018	0.043	T	0.71896	-0.4454	10	0.51188	T	0.08	-1.9687	1.5452	0.02563	0.2071:0.119:0.4293:0.2446	.	144	P05111	INHA_HUMAN	P	144	ENSP00000243786:A144P	ENSP00000243786:A144P	A	+	1	0	INHA	220147821	0.000000	0.05858	0.071000	0.20095	0.970000	0.65996	0.105000	0.15333	-0.245000	0.09625	0.561000	0.74099	GCC	-	INHA	-	pirsf_Inhibin_asu_subgr		0.642	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHA	HGNC	protein_coding	OTTHUMT00000131425.1	0	0		61	61		0.00		G			220439577	+1	9		16		tier1	no_errors	ENST00000243786	ensembl	human	known	74_37	missense	36.00		SNP	0.065	C	9	16
BAI3	577	genome.wustl.edu	37	6	69684656	69684656	+	Splice_Site	SNP	A	A	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:69684656A>T	ENST00000370598.1	+	9	2348	c.1527A>T	c.(1525-1527)gcA>gcT	p.A509A		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	509					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAATTGCAGCACCTTATGAAA	0.408													ENSG00000135298																																					0													98.0	94.0	95.0					6																	69684656		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1526-1A>T	6.37:g.69684656A>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A509	ENST00000370598.1	37	c.1527	CCDS4968.1	6																																																																																			-	BAI3	-	pfscan_GPCR_2_extracellular_dom		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0		40	40		0.00		A		Silent	69684656	+1	14		17		tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	45.16		SNP	0.999	T	14	17
GPRIN2	9721	genome.wustl.edu	37	10	47000213	47000213	+	Missense_Mutation	SNP	C	C	T	rs201166086	byFrequency	TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr10:47000213C>T	ENST00000374317.1	+	3	1606	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R445W	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	445										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCAGTCCCTGCGGCGCCCCAG	0.716													ENSG00000204175	C|||	2	0.000399361	0.0	0.0	5008	,	,		29686	0.002		0.0	False		,,,				2504	0.0																0													11.0	11.0	11.0					10																	47000213		2144	4155	6299	SO:0001583	missense	0			GMAF=0.0005	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1333C>T	10.37:g.47000213C>T	ENSP00000363436:p.Arg445Trp		Q5SVF0	Missense_Mutation	SNP	NULL	p.R445W	ENST00000374317.1	37	c.1333	CCDS31192.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.955069	0.73902	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.31769	1.48;1.48	5.11	0.114	0.14639	.	0.000000	0.40064	N	0.001196	T	0.51975	0.1706	M	0.77820	2.39	0.45822	D	0.998694	D	0.89917	1.0	D	0.69824	0.966	T	0.59311	-0.7478	10	0.87932	D	0	-18.1752	13.2117	0.59828	0.724:0.276:0.0:0.0	.	445	O60269	GRIN2_HUMAN	W	445	ENSP00000363436:R445W;ENSP00000363433:R445W	ENSP00000363433:R445W	R	+	1	2	GPRIN2	46420219	0.995000	0.38212	0.796000	0.32109	0.992000	0.81027	0.634000	0.24614	0.219000	0.20840	0.561000	0.74099	CGG	rs201166086	GPRIN2	-	NULL		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	0	0		44	44		0.00		C	NM_014696		47000213	+1	6		31		tier1	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	16.22		SNP	0.724	T	6	31
ANKRD50	57182	genome.wustl.edu	37	4	125631194	125631194	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr4:125631194G>T	ENST00000504087.1	-	2	1510	c.473C>A	c.(472-474)cCt>cAt	p.P158H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	158										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCACTCCCCAGGCTGTAAGAG	0.428													ENSG00000151458																																					0													65.0	70.0	68.0					4																	125631194		2203	4300	6503	SO:0001583	missense	0			-	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.473C>A	4.37:g.125631194G>T	ENSP00000425658:p.Pro158His		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P158H	ENST00000504087.1	37	c.473	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287320	0.40494	.	.	ENSG00000151458	ENST00000504087	T	0.17854	2.25	5.3	5.3	0.74995	.	0.061099	0.64402	D	0.000003	T	0.38799	0.1054	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.08554	-1.0716	10	0.59425	D	0.04	.	18.9472	0.92626	0.0:0.0:1.0:0.0	.	158	Q9ULJ7	ANR50_HUMAN	H	158	ENSP00000425658:P158H	ENSP00000425658:P158H	P	-	2	0	ANKRD50	125850644	1.000000	0.71417	0.811000	0.32455	0.009000	0.06853	7.405000	0.80007	2.482000	0.83794	0.462000	0.41574	CCT	-	ANKRD50	-	NULL		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	0	0		71	71		0.00		G	NM_020337		125631194	-1	4		39		tier1	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	9.30		SNP	0.998	T	4	39
PDE1A	5136	genome.wustl.edu	37	2	183095805	183095805	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:183095805C>T	ENST00000410103.1	-	6	602	c.519G>A	c.(517-519)gaG>gaA	p.E173E	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Silent_p.E173E|PDE1A_ENST00000358139.2_Silent_p.E173E|PDE1A_ENST00000536095.1_Silent_p.E69E|PDE1A_ENST00000346717.4_Silent_p.E139E|PDE1A_ENST00000409365.1_Silent_p.E157E|PDE1A_ENST00000456212.1_Silent_p.E173E|PDE1A_ENST00000351439.5_Silent_p.E157E|PDE1A_ENST00000435564.1_Silent_p.E173E	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	173					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCAGACTATGCTCTCCACTTG	0.333													ENSG00000115252																																					0													136.0	137.0	137.0					2																	183095805		2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.519G>A	2.37:g.183095805C>T			D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E173	ENST00000410103.1	37	c.519	CCDS33344.1	2																																																																																			-	PDE1A	-	NULL		0.333	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	0	0		50	50		0.00		C			183095805	-1	3		29		tier1	no_errors	ENST00000456212	ensembl	human	known	74_37	silent	9.38		SNP	0.207	T	3	29
SLC47A2	146802	genome.wustl.edu	37	17	19618456	19618456	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:19618456C>T	ENST00000325411.5	-	2	248	c.198G>A	c.(196-198)gaG>gaA	p.E66E	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Silent_p.E66E	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	66					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CCGATGCCAGCTCCACCTTGC	0.632													ENSG00000180638																																					0													82.0	80.0	81.0					17																	19618456		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.198G>A	17.37:g.19618456C>T			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	pfam_MATE,tigrfam_MATE	p.E66	ENST00000325411.5	37	c.198	CCDS11211.1	17																																																																																			-	SLC47A2	-	pfam_MATE		0.632	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	0	0		46	46		0.00		C	NM_152908		19618456	-1	4		40		tier1	no_errors	ENST00000325411	ensembl	human	known	74_37	silent	9.09		SNP	1.000	T	4	40
E2F6	1876	genome.wustl.edu	37	2	11593912	11593912	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr2:11593912A>G	ENST00000381525.3	-	3	445	c.176T>C	c.(175-177)gTg>gCg	p.V59A	E2F6_ENST00000546212.1_5'UTR|E2F6_ENST00000307236.4_Missense_Mutation_p.V27A|E2F6_ENST00000362009.4_Missense_Mutation_p.V59A|E2F6_ENST00000542100.1_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	59					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGTCTCTTCACTTTTAGAGC	0.323													ENSG00000169016																																					0													39.0	37.0	38.0					2																	11593912		1798	4067	5865	SO:0001583	missense	0			-	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.176T>C	2.37:g.11593912A>G	ENSP00000370936:p.Val59Ala		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	pfam_E2F_TDP	p.V59A	ENST00000381525.3	37	c.176	CCDS1680.2	2	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091272	0.36855	.	.	ENSG00000169016	ENST00000381525;ENST00000362009;ENST00000307236	D;D;D	0.90197	-2.63;-2.63;-2.63	5.56	4.41	0.53225	.	0.600559	0.17542	N	0.170513	T	0.81341	0.4802	L	0.27053	0.805	0.38353	D	0.944398	B;B	0.29432	0.04;0.244	B;B	0.22753	0.013;0.041	T	0.74931	-0.3496	9	.	.	.	-12.5716	6.9971	0.24789	0.7957:0.0:0.0717:0.1326	.	59;27	O75461;G5E936	E2F6_HUMAN;.	A	59;59;27	ENSP00000370936:V59A;ENSP00000355036:V59A;ENSP00000302159:V27A	.	V	-	2	0	E2F6	11511363	0.996000	0.38824	1.000000	0.80357	0.749000	0.42624	0.867000	0.27968	0.952000	0.37798	0.455000	0.32223	GTG	-	E2F6	-	NULL		0.323	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	0	0		40	40		0.00		A	NM_001952		11593912	-1	3		15		tier1	no_errors	ENST00000381525	ensembl	human	known	74_37	missense	16.67		SNP	1.000	G	3	15
RGL2	5863	genome.wustl.edu	37	6	33263137	33263137	+	Silent	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:33263137G>A	ENST00000497454.1	-	8	1578	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.S279S|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	361	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTGGATGGGGCTGGACTGCA	0.627													ENSG00000237441																																					0													21.0	23.0	22.0					6																	33263137		2200	4299	6499	SO:0001819	synonymous_variant	0			-		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1083C>T	6.37:g.33263137G>A			B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S361	ENST00000497454.1	37	c.1083	CCDS4774.1	6																																																																																			-	RGL2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.627	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	0	0		53	53		0.00		G			33263137	-1	25		31		tier1	no_errors	ENST00000497454	ensembl	human	known	74_37	silent	44.64		SNP	1.000	A	25	31
PLXNA2	5362	genome.wustl.edu	37	1	208199993	208199994	+	3'UTR	INS	-	-	TC	rs148574660		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:208199993_208199994insTC	ENST00000367033.3	-	0	7036_7037				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		cttctcctctttctcttttttt	0.406													ENSG00000076356																																					0																																										SO:0001624	3_prime_UTR_variant	0				X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*595->GA	1.37:g.208199996_208199997dupTC			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	R	INS	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																				PLX2	-	-		0.406	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLX2	HGNC	protein_coding	OTTHUMT00000088932.6	0	0		31	31		0.00		-	NM_025179		208199994	-1	5		18		tier1	no_errors	ENST00000483048	ensembl	human	known	74_37	rna	21.74		INS	0.000:0.000	TC	5	18
CFAP57	149465	genome.wustl.edu	37	1	43719692	43719692	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:43719692A>G	ENST00000372492.4	+	23	3907	c.3583A>G	c.(3583-3585)Aat>Gat	p.N1195D		NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		1195										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCAAGGTTGAATGAGCAAGA	0.542													ENSG00000243710																																					0																																										SO:0001583	missense	0			-																												ENST00000372492.4:c.3583A>G	1.37:g.43719692A>G	ENSP00000361570:p.Asn1195Asp		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1195D	ENST00000372492.4	37	c.3583		1	.	.	.	.	.	.	.	.	.	.	A	5.377	0.254803	0.10185	.	.	ENSG00000243710	ENST00000372492	T	0.37915	1.17	5.21	2.76	0.32466	.	0.248497	0.31601	N	0.007367	T	0.30759	0.0775	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.04140	-1.0974	7	0.23302	T	0.38	-7.2107	6.0152	0.19598	0.7493:0.164:0.0867:0.0	.	.	.	.	D	1195	ENSP00000361570:N1195D	ENSP00000361570:N1195D	N	+	1	0	WDR65	43492279	0.972000	0.33761	0.128000	0.21923	0.030000	0.12068	1.713000	0.37951	0.827000	0.34685	0.456000	0.33151	AAT	-	WDR65	-	superfamily_Quinonprotein_ADH-like_supfam		0.542	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	0	0		38	38		0.00		A			43719692	+1	4		26		tier1	no_errors	ENST00000372492	ensembl	human	novel	74_37	missense	13.33		SNP	0.833	G	4	26
PTK2	5747	genome.wustl.edu	37	8	141754753	141754753	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr8:141754753G>T	ENST00000522684.1	-	19	1861	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q	PTK2_ENST00000395218.2_Missense_Mutation_p.H544Q|PTK2_ENST00000538769.1_Missense_Mutation_p.H212Q|PTK2_ENST00000517887.1_Missense_Mutation_p.H588Q|PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000519465.1_Missense_Mutation_p.H172Q|PTK2_ENST00000521059.1_Missense_Mutation_p.H544Q|PTK2_ENST00000535192.1_Missense_Mutation_p.H544Q|PTK2_ENST00000519419.1_Missense_Mutation_p.H588Q|PTK2_ENST00000340930.3_Missense_Mutation_p.H544Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TATCTTACCTGTGTACAAATC	0.408													ENSG00000169398																																					0													134.0	121.0	126.0					8																	141754753		2203	4300	6503	SO:0001583	missense	0			-	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1632C>A	8.37:g.141754753G>T	ENSP00000429911:p.His544Gln		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H544Q	ENST00000522684.1	37	c.1632	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.383392|4.383392	0.82792|0.82792	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|.	5.38|5.38	4.38|4.38	0.52667|0.52667	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87712|0.87712	0.6246|0.6246	H|H	0.99834|0.99834	4.825|4.825	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.966;1.0;0.999;1.0;0.999;1.0;0.998;1.0;1.0|.	D;P;D;D;D;D;D;D;D;D|.	0.85130|.	0.943;0.906;0.992;0.922;0.992;0.915;0.995;0.995;0.997;0.996|.	D|D	0.87643|0.87643	0.2523|0.2523	10|5	0.87932|.	D|.	0|.	.|.	3.4657|3.4657	0.07549|0.07549	0.3666:0.0:0.6333:0.0|0.3666:0.0:0.6333:0.0	.|.	544;239;464;544;566;544;496;392;212;172|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	Q|K	544;544;172;588;544;496;544;465;239;216;544;212;588;242;390|555	ENSP00000429911:H544Q;ENSP00000438009:H544Q;ENSP00000429170:H172Q;ENSP00000429082:H588Q;ENSP00000429474:H544Q;ENSP00000378644:H544Q;ENSP00000428492:H216Q;ENSP00000341189:H544Q;ENSP00000445742:H212Q;ENSP00000429129:H588Q;ENSP00000430603:H242Q|.	ENSP00000341189:H544Q|.	H|Q	-|-	3|1	2|0	PTK2|PTK2	141823935|141823935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	6.217000|6.217000	0.72218|0.72218	2.524000|2.524000	0.85096|0.85096	0.591000|0.591000	0.81541|0.81541	CAC|CAG	-	PTK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.408	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	0	0		42	42		0.00		G	NM_005607		141754753	-1	3		28		tier1	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	9.68		SNP	1.000	T	3	28
SRR	63826	genome.wustl.edu	37	17	2226627	2226627	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr17:2226627G>T	ENST00000344595.5	+	7	1110	c.792G>T	c.(790-792)gaG>gaT	p.E264D	TSR1_ENST00000301364.5_3'UTR|SRR_ENST00000576848.1_Missense_Mutation_p.E38D	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	264					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CTGTCACAGAGGATGAAATTA	0.448													ENSG00000167720																																					0													103.0	97.0	99.0					17																	2226627		2203	4300	6503	SO:0001583	missense	0			-	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.792G>T	17.37:g.2226627G>T	ENSP00000339435:p.Glu264Asp		D3DTI5|Q6IA55	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.E264D	ENST00000344595.5	37	c.792	CCDS11017.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517749	0.27123	.	.	ENSG00000167720	ENST00000344595	D	0.96365	-3.99	5.88	2.55	0.30701	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	L	0.35487	1.065	0.80722	D	1	B	0.28713	0.22	B	0.37422	0.249	D	0.83449	0.0047	10	0.06365	T	0.9	-30.1951	9.8933	0.41302	0.2377:0.0:0.7623:0.0	.	264	Q9GZT4	SRR_HUMAN	D	264	ENSP00000339435:E264D	ENSP00000339435:E264D	E	+	3	2	SRR	2173377	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.152000	0.42272	0.297000	0.22615	0.555000	0.69702	GAG	-	SRR	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.448	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRR	HGNC	protein_coding	OTTHUMT00000207129.2	0	0		29	29		0.00		G	NM_021947		2226627	+1	3		13		tier1	no_errors	ENST00000344595	ensembl	human	known	74_37	missense	18.75		SNP	1.000	T	3	13
PNISR	25957	genome.wustl.edu	37	6	99848036	99848036	+	3'UTR	DEL	A	A	-			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:99848036delA	ENST00000369239.5	-	0	3002				PNISR_ENST00000438806.1_3'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTACAGATTAAAAAAAAAAA	0.308													ENSG00000132424																																					0																																										SO:0001624	3_prime_UTR_variant	0				AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.*380T>-	6.37:g.99848036delA			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	R	DEL	-	NULL	ENST00000369239.5	37	NULL	CCDS5043.1	6																																																																																				PNISR	-	-		0.308	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	0	0		21	21		0.00		A	NM_032870		99848036	-1	5		16		tier1	no_errors	ENST00000481229	ensembl	human	known	74_37	rna	23.81		DEL	0.986	-	5	16
C6orf118	168090	genome.wustl.edu	37	6	165706835	165706835	+	Intron	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:165706835G>A	ENST00000230301.8	-	6	1141				C6orf118_ENST00000494696.2_5'Flank|C6orf118_ENST00000543069.1_Missense_Mutation_p.A292V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118											breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAGCCACACTGCAGCAGCTGA	0.493													ENSG00000112539																																					0													113.0	102.0	105.0					6																	165706835		692	1591	2283	SO:0001627	intron_variant	0			-		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1120+66C>T	6.37:g.165706835G>A			Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.A292V	ENST00000230301.8	37	c.875	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696127	0.30052	.	.	ENSG00000112539	ENST00000543069	T	0.16196	2.36	1.1	-0.178	0.13303	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38067	-0.9678	6	0.87932	D	0	.	2.9992	0.06008	0.6538:0.0:0.3462:0.0	.	.	.	.	V	292	ENSP00000439288:A292V	ENSP00000439288:A292V	A	-	2	0	C6orf118	165626825	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.215000	0.09279	-0.068000	0.12953	-0.373000	0.07131	GCA	-	C6orf118	-	NULL		0.493	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	0	0		30	30		0.00		G	NM_144980		165706835	-1	3		17		tier1	no_errors	ENST00000543069	ensembl	human	known	74_37	missense	15.00		SNP	0.001	A	3	17
SPTA1	6708	genome.wustl.edu	37	1	158583576	158583576	+	Silent	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:158583576G>T	ENST00000368147.4	-	50	7104	c.6924C>A	c.(6922-6924)ccC>ccA	p.P2308P	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2308					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCCACCATGGGCAAGTAGT	0.493													ENSG00000163554																																					0													67.0	65.0	66.0					1																	158583576		1906	4128	6034	SO:0001819	synonymous_variant	0			-	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6924C>A	1.37:g.158583576G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P2308	ENST00000368147.4	37	c.6924	CCDS41423.1	1																																																																																			-	SPTA1	-	NULL		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	0	0		52	52		0.00		G	NM_003126		158583576	-1	11		28		tier1	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	28.21		SNP	1.000	T	11	28
CAPN11	11131	genome.wustl.edu	37	6	44147871	44147871	+	Silent	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:44147871G>A	ENST00000398776.1	+	14	1649	c.1611G>A	c.(1609-1611)cgG>cgA	p.R537R	CAPN11_ENST00000542245.1_Silent_p.R537R	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	537	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTGCTTCGGGTCTTCACCG	0.582													ENSG00000137225																																					0													30.0	30.0	30.0					6																	44147871		2068	4225	6293	SO:0001819	synonymous_variant	0			-	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1611G>A	6.37:g.44147871G>A			B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R537	ENST00000398776.1	37	c.1611	CCDS47436.1	6																																																																																			-	CAPN11	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.582	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	0	0		28	28		0.00		G			44147871	+1	3		16		tier1	no_errors	ENST00000398776	ensembl	human	known	74_37	silent	15.79		SNP	0.103	A	3	16
MMP3	4314	genome.wustl.edu	37	11	102713513	102713513	+	Silent	SNP	G	G	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr11:102713513G>A	ENST00000299855.5	-	2	496	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	80					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GAGTGTCGGAGTCCAGCTTCC	0.502													ENSG00000149968																																					0													71.0	61.0	64.0					11																	102713513		2203	4299	6502	SO:0001819	synonymous_variant	0			-	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.240C>T	11.37:g.102713513G>A			B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D80	ENST00000299855.5	37	c.240	CCDS8323.1	11																																																																																			-	MMP3	-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.502	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	0	0		45	45		0.00		G	NM_002422		102713513	-1	4		43		tier1	no_errors	ENST00000299855	ensembl	human	known	74_37	silent	8.51		SNP	0.954	A	4	43
BANF2	140836	genome.wustl.edu	37	20	17716354	17716354	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr20:17716354A>T	ENST00000246090.5	+	4	433	c.171A>T	c.(169-171)gaA>gaT	p.E57D	BANF2_ENST00000545418.2_Missense_Mutation_p.E64D|BANF2_ENST00000377805.3_Missense_Mutation_p.E57D|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						ACAAGAATGAAGCCGAGTTTC	0.532													ENSG00000125888																																					0													212.0	177.0	189.0					20																	17716354		2203	4300	6503	SO:0001583	missense	0			-	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 179"""	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.171A>T	20.37:g.17716354A>T	ENSP00000246090:p.Glu57Asp		D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	pfam_BAF_prot,superfamily_BAF_prot	p.E64D	ENST00000246090.5	37	c.192	CCDS13129.1	20	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178620	0.57692	.	.	ENSG00000125888	ENST00000545418;ENST00000377805;ENST00000246090	T;T;T	0.58358	0.34;0.34;0.34	5.28	0.304	0.15796	.	0.075412	0.49916	D	0.000129	T	0.60869	0.2302	.	.	.	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.61800	0.83;0.894	T	0.52616	-0.8552	9	0.54805	T	0.06	.	7.4827	0.27415	0.5624:0.0:0.4376:0.0	.	64;57	F5H3F6;Q9H503	.;BAFL_HUMAN	D	64;57;57	ENSP00000439128:E64D;ENSP00000367036:E57D;ENSP00000246090:E57D	ENSP00000246090:E57D	E	+	3	2	BANF2	17664354	0.323000	0.24643	0.029000	0.17559	0.477000	0.33069	-0.018000	0.12568	0.002000	0.14630	0.459000	0.35465	GAA	-	BANF2	-	pfam_BAF_prot,superfamily_BAF_prot		0.532	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BANF2	HGNC	protein_coding	OTTHUMT00000102261.2	0	0		56	56		0.00		A	NM_178477		17716354	+1	4		36		tier1	no_errors	ENST00000545418	ensembl	human	known	74_37	missense	10.00		SNP	0.038	T	4	36
ENPP3	5169	genome.wustl.edu	37	6	131997878	131997878	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr6:131997878G>T	ENST00000414305.1	+	11	1203	c.875G>T	c.(874-876)aGt>aTt	p.S292I	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.S292I|ENPP3_ENST00000358229.5_Missense_Mutation_p.S292I			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	292	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTTTCAGAAGTGTCCCATTT	0.363													ENSG00000154269																																					0													80.0	79.0	79.0					6																	131997878		2203	4300	6503	SO:0001583	missense	0			-	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.875G>T	6.37:g.131997878G>T	ENSP00000406261:p.Ser292Ile		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.S292I	ENST00000414305.1	37	c.875	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738976	0.49045	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.73681	-0.77;-0.77;-0.77	4.84	2.87	0.33458	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.490245	0.17837	N	0.160337	D	0.83622	0.5294	M	0.89534	3.04	0.22827	N	0.998682	D	0.71674	0.998	D	0.77004	0.989	T	0.76424	-0.2964	10	0.66056	D	0.02	-6.7314	13.688	0.62529	0.0:0.6965:0.3035:0.0	.	292	O14638	ENPP3_HUMAN	I	292	ENSP00000406261:S292I;ENSP00000350265:S292I;ENSP00000350964:S292I	ENSP00000350265:S292I	S	+	2	0	ENPP3	132039571	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.093000	0.11111	1.171000	0.42768	0.549000	0.68633	AGT	-	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	0	0		50	50		0.00		G			131997878	+1	3		26		tier1	no_errors	ENST00000357639	ensembl	human	known	74_37	missense	10.34		SNP	0.001	T	3	26
SAMM50	25813	genome.wustl.edu	37	22	44368199	44368199	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr22:44368199G>T	ENST00000350028.4	+	5	563	c.406G>T	c.(406-408)Gtt>Ttt	p.V136F	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	136					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAACACCATGGTTGGAAACAA	0.358													ENSG00000100347																																					0													129.0	119.0	123.0					22																	44368199		2203	4300	6503	SO:0001583	missense	0			-	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.406G>T	22.37:g.44368199G>T	ENSP00000345445:p.Val136Phe		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.V136F	ENST00000350028.4	37	c.406	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043111	0.93685	.	.	ENSG00000100347	ENST00000350028	T	0.35973	1.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77820	2.39	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.56768	-0.7924	10	0.27785	T	0.31	-27.917	17.797	0.88575	0.0:0.0:1.0:0.0	.	136	Q9Y512	SAM50_HUMAN	F	136	ENSP00000345445:V136F	ENSP00000345445:V136F	V	+	1	0	SAMM50	42699532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.500000	0.97977	2.525000	0.85131	0.655000	0.94253	GTT	-	SAMM50	-	NULL		0.358	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	0	0		47	47		0.00		G	NM_015380		44368199	+1	3		23		tier1	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	11.54		SNP	1.000	T	3	23
ATXN7L2	127002	genome.wustl.edu	37	1	110034210	110034210	+	Silent	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr1:110034210G>T	ENST00000369870.3	+	10	2040	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	675										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAAAAACCTGGCCACTTATT	0.642													ENSG00000162650																																					0													32.0	36.0	35.0					1																	110034210		2203	4299	6502	SO:0001819	synonymous_variant	0			-	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2025G>T	1.37:g.110034210G>T				Silent	SNP	pfam_SCA7_dom	p.L675	ENST00000369870.3	37	c.2025	CCDS30794.1	1																																																																																			-	ATXN7L2	-	NULL		0.642	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	0	0		39	39		0.00		G	NM_153340		110034210	+1	4		37		tier1	no_errors	ENST00000369870	ensembl	human	known	74_37	silent	9.76		SNP	1.000	T	4	37
CNN1	1264	genome.wustl.edu	37	19	11651944	11651944	+	Missense_Mutation	SNP	G	G	T	rs372849208		TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr19:11651944G>T	ENST00000252456.2	+	2	328	c.117G>T	c.(115-117)gaG>gaT	p.E39D	CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.E19D|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000535659.2_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	39	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGTGGATCGAGGGGGTGACAG	0.617													ENSG00000130176																																					0								G	ASP/GLU	0,4406		0,0,2203	63.0	48.0	53.0		117	4.0	1.0	19		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNN1	NM_001299.4	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	39/298	11651944	1,13005	2203	4300	6503	SO:0001583	missense	0			-	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.117G>T	19.37:g.11651944G>T	ENSP00000252456:p.Glu39Asp		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.E39D	ENST00000252456.2	37	c.117	CCDS12263.1	19	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190124	0.58017	0.0	1.16E-4	ENSG00000130176	ENST00000252456;ENST00000544952	D;D	0.95069	-3.6;-3.6	5.1	4.04	0.47022	Calponin homology domain (5);	0.113441	0.64402	D	0.000020	D	0.94003	0.8079	M	0.81497	2.545	0.54753	D	0.999985	B	0.12013	0.005	B	0.26094	0.066	D	0.91575	0.5274	10	0.42905	T	0.14	-52.1503	12.8723	0.57972	0.0822:0.0:0.9178:0.0	.	39	P51911	CNN1_HUMAN	D	39;19	ENSP00000252456:E39D;ENSP00000437470:E19D	ENSP00000252456:E39D	E	+	3	2	CNN1	11512944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.665000	0.46791	1.120000	0.41904	0.549000	0.68633	GAG	-	CNN1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin,prints_Calponin		0.617	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	HGNC	protein_coding	OTTHUMT00000458854.1	0	0		46	46		0.00		G	NM_001299		11651944	+1	4		32		tier1	no_errors	ENST00000252456	ensembl	human	known	74_37	missense	11.11		SNP	1.000	T	4	32
NDST1	3340	genome.wustl.edu	37	5	149901311	149901311	+	Silent	SNP	C	C	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr5:149901311C>T	ENST00000261797.6	+	2	997	c.495C>T	c.(493-495)ggC>ggT	p.G165G	NDST1_ENST00000523767.1_Silent_p.G165G	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	165	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGCGTGGGCATCATTGGCT	0.537													ENSG00000070614																																					0													85.0	86.0	86.0					5																	149901311		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.495C>T	5.37:g.149901311C>T			Q96E57	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G165	ENST00000261797.6	37	c.495	CCDS34277.1	5																																																																																			-	NDST1	-	pfam_Heparan_SO4_deacetylase		0.537	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	0	0		51	51		0.00		C	NM_001543		149901311	+1	4		37		tier1	no_errors	ENST00000261797	ensembl	human	known	74_37	silent	9.76		SNP	1.000	T	4	37
ABCA13	154664	genome.wustl.edu	37	7	48414001	48414001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr7:48414001G>T	ENST00000435803.1	+	34	11215	c.11191G>T	c.(11191-11193)Gga>Tga	p.G3731*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3731					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						ATTCCTGGAAGGACAAGAGAC	0.403													ENSG00000179869																																					0													84.0	79.0	80.0					7																	48414001		1898	4114	6012	SO:0001587	stop_gained	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.11191G>T	7.37:g.48414001G>T	ENSP00000411096:p.Gly3731*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G3731*	ENST00000435803.1	37	c.11191	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	53	20.798490	0.99934	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.51	5.51	0.81932	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.3053	0.54898	0.0805:0.0:0.9195:0.0	.	.	.	.	X	3731	.	ENSP00000411096:G3731X	G	+	1	0	ABCA13	48384547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.666000	0.46799	2.736000	0.93811	0.655000	0.94253	GGA	-	ABCA13	-	NULL		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	0	0		36	36		0.00		G	NM_152701		48414001	+1	4		24		tier1	no_errors	ENST00000435803	ensembl	human	known	74_37	nonsense	14.29		SNP	1.000	T	4	24
IRAK3	11213	genome.wustl.edu	37	12	66641685	66641685	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BZ-01A-11D-A37C-09	TCGA-DX-A8BZ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c7cff6a-631d-4d69-a1c4-f4fad062b011	79cb9ea0-57c1-4504-895d-6153d1f878b5	g.chr12:66641685T>A	ENST00000261233.4	+	12	1946	c.1525T>A	c.(1525-1527)Tgc>Agc	p.C509S	IRAK3_ENST00000457197.2_Missense_Mutation_p.C448S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCCTTTTGAATGCAGCCAGTC	0.418													ENSG00000090376																																					0													132.0	128.0	129.0					12																	66641685		2203	4300	6503	SO:0001583	missense	0			-	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1525T>A	12.37:g.66641685T>A	ENSP00000261233:p.Cys509Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom	p.C509S	ENST00000261233.4	37	c.1525	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673898	0.67928	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.75938	-0.98;-0.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	L	0.36672	1.1	0.41110	D	0.985735	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.78414	-0.2213	9	.	.	.	-15.1054	12.4942	0.55918	0.0:0.0:0.0:1.0	.	448;509	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	S	509;448	ENSP00000261233:C509S;ENSP00000409852:C448S	.	C	+	1	0	IRAK3	64927952	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	4.370000	0.59517	2.200000	0.70718	0.459000	0.35465	TGC	-	IRAK3	-	NULL		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	0	0		32	32		0.00		T			66641685	+1	15		25		tier1	no_errors	ENST00000261233	ensembl	human	known	74_37	missense	37.50		SNP	1.000	A	15	25
