#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_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_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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAMTS16	170690	genome.wustl.edu	37	5	5186227	5186227	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr5:5186227C>T	ENST00000274181.7	+	5	964	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R276W	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	276					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCTTGCTTACGGCATAAGCG	0.493																																																	0													155.0	151.0	153.0					5																	5186227		1935	4157	6092	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.826C>T	5.37:g.5186227C>T	ENSP00000274181:p.Arg276Trp		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R276W	ENST00000274181.7	37	c.826	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231185	0.39399	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.67523	-0.15;-0.27	5.51	-3.35	0.04928	.	0.060291	0.64402	D	0.000008	T	0.78591	0.4307	M	0.81341	2.54	0.21697	N	0.999584	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.74131	-0.3764	10	0.72032	D	0.01	.	13.8206	0.63318	0.6976:0.2104:0.092:0.0	.	276;276;276	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	W	276	ENSP00000274181:R276W;ENSP00000421631:R276W	ENSP00000274181:R276W	R	+	1	2	ADAMTS16	5239227	0.032000	0.19561	0.000000	0.03702	0.085000	0.17905	0.315000	0.19451	-0.252000	0.09528	0.655000	0.94253	CGG	ADAMTS16	-	NULL		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5186227	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.000	T
ALMS1	7840	genome.wustl.edu	37	2	73677738	73677738	+	Missense_Mutation	SNP	G	G	A	rs534858351		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:73677738G>A	ENST00000264448.6	+	8	4192	c.4081G>A	c.(4081-4083)Gtt>Att	p.V1361I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V1361I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1319I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1361	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAAATTTCAGTTGCCTCTGA	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20425	0.0		0.0	False		,,,				2504	0.0																0													84.0	87.0	86.0					2																	73677738		1853	4095	5948	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4081G>A	2.37:g.73677738G>A	ENSP00000264448:p.Val1361Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.V1361I	ENST00000264448.6	37	c.4081	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	5.332	0.246527	0.10130	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15372	3.33;3.32;2.43	3.88	2.0	0.26442	.	.	.	.	.	T	0.12689	0.0308	L	0.39898	1.24	0.09310	N	1	P;B;B	0.42248	0.774;0.187;0.187	B;B;B	0.40066	0.318;0.069;0.069	T	0.15896	-1.0421	9	0.33141	T	0.24	.	4.5306	0.12002	0.1145:0.0:0.6669:0.2187	.	1361;1319;1361	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1319;1361;1361	ENSP00000386627:V1319I;ENSP00000264448:V1361I;ENSP00000366944:V1361I	ENSP00000264448:V1361I	V	+	1	0	ALMS1	73531246	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.048000	0.00306	0.553000	0.29044	0.561000	0.74099	GTT	ALMS1	-	NULL		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73677738	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.000	A
ATM	472	genome.wustl.edu	37	11	108178704	108178704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr11:108178704C>T	ENST00000452508.2	+	39	5944	c.5755C>T	c.(5755-5757)Caa>Taa	p.Q1919*	ATM_ENST00000278616.4_Nonsense_Mutation_p.Q1919*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1919					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATGAGAAGACAAAAGAGGTA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													151.0	139.0	143.0					11																	108178704		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5755C>T	11.37:g.108178704C>T	ENSP00000388058:p.Gln1919*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1919*	ENST00000452508.2	37	c.5755	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	48	14.645774	0.99804	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.3397	0.90300	0.0:1.0:0.0:0.0	.	.	.	.	X	1919	.	ENSP00000278616:Q1919X	Q	+	1	0	ATM	107683914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.156000	0.71840	2.854000	0.98071	0.655000	0.94253	CAA	ATM	-	superfamily_ARM-type_fold		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	C	NM_000051		108178704	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	nonsense	SNP	1.000	T
AVPR1B	553	genome.wustl.edu	37	1	206225182	206225182	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:206225182G>A	ENST00000367126.4	+	1	1207	c.742G>A	c.(742-744)Gac>Aac	p.D248N	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	248					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAGGACTTGGGACAGGCCCTC	0.592																																																	0													42.0	48.0	46.0					1																	206225182		2203	4300	6503	SO:0001583	missense	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.742G>A	1.37:g.206225182G>A	ENSP00000356094:p.Asp248Asn		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.D248N	ENST00000367126.4	37	c.742	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138250	0.01742	.	.	ENSG00000198049	ENST00000367126	T	0.62364	0.03	5.19	-0.0531	0.13819	GPCR, rhodopsin-like superfamily (1);	1.541430	0.03856	N	0.273216	T	0.43322	0.1242	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.08554	-1.0716	10	0.20046	T	0.44	-2.3396	1.9524	0.03369	0.3093:0.1234:0.4411:0.1262	.	248	P47901	V1BR_HUMAN	N	248	ENSP00000356094:D248N	ENSP00000356094:D248N	D	+	1	0	AVPR1B	204391805	0.059000	0.20769	0.000000	0.03702	0.059000	0.15707	0.272000	0.18644	-0.291000	0.09012	-0.505000	0.04504	GAC	AVPR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B		0.592	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	G	NM_000707		206225182	+1	no_errors	ENST00000367126	ensembl	human	known	70_37	missense	SNP	0.000	A
BCHE	590	genome.wustl.edu	37	3	165547887	165547887	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr3:165547887G>C	ENST00000264381.3	-	2	1101	c.935C>G	c.(934-936)aCt>aGt	p.T312S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	312					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TGACAAAGGAGTCCCATAGGG	0.388																																																	0													45.0	48.0	47.0					3																	165547887		2201	4295	6496	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.935C>G	3.37:g.165547887G>C	ENSP00000264381:p.Thr312Ser		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T312S	ENST00000264381.3	37	c.935	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.105124	0.00033	.	.	ENSG00000114200	ENST00000264381	T	0.66280	-0.2	5.42	2.48	0.30137	Carboxylesterase, type B (1);	0.387498	0.29280	N	0.012613	T	0.19846	0.0477	N	0.00321	-1.65	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.07644	T	0.81	.	6.4826	0.22071	0.072:0.1304:0.6623:0.1353	.	312	P06276	CHLE_HUMAN	S	312	ENSP00000264381:T312S	ENSP00000264381:T312S	T	-	2	0	BCHE	167030581	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	0.544000	0.23253	0.644000	0.30656	0.655000	0.94253	ACT	BCHE	-	pfam_CarbesteraseB		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	G			165547887	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	missense	SNP	0.012	C
CAMSAP1	157922	genome.wustl.edu	37	9	138714664	138714664	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:138714664G>A	ENST00000389532.4	-	11	1907	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R337W|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R626W	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	615					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTCCCCCCGTTCATCCTCC	0.547																																																	0													55.0	60.0	59.0					9																	138714664		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1843C>T	9.37:g.138714664G>A	ENSP00000374183:p.Arg615Trp		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R626W	ENST00000389532.4	37	c.1876	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845481	0.32606	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15017	2.47;2.46;2.47	5.44	0.584	0.17422	.	0.335919	0.35772	N	0.002994	T	0.14830	0.0358	N	0.22421	0.69	0.23577	N	0.997379	P;D	0.54397	0.927;0.966	B;P	0.49853	0.339;0.624	T	0.11275	-1.0594	10	0.87932	D	0	-22.5886	9.6015	0.39607	0.8439:0.0:0.1561:0.0	.	615;626	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	W	615;337;626	ENSP00000374183:R615W;ENSP00000312463:R337W;ENSP00000386420:R626W	ENSP00000312463:R337W	R	-	1	2	CAMSAP1	137854485	0.983000	0.35010	0.015000	0.15790	0.022000	0.10575	2.972000	0.49256	0.188000	0.20168	0.655000	0.94253	CGG	CAMSAP1	-	NULL		0.547	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138714664	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.641	A
CC2D1B	200014	genome.wustl.edu	37	1	52818973	52818976	+	3'UTR	DEL	AGAT	AGAT	-	rs112251254|rs371263435|rs367568890	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:52818973_52818976delAGAT	ENST00000371586.2	-	0	2930_2933				CC2D1B_ENST00000284376.3_Intron|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B							nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGTTTCCTGAagatagatagatag	0.456														558	0.111422	0.3828	0.0375	5008	,	,		22964	0.003		0.007	False		,,,				2504	0.0164																0																																										SO:0001624	3_prime_UTR_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.*218ATCT>-	1.37:g.52818981_52818984delAGAT			Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	RNA	DEL	-	NULL	ENST00000371586.2	37	NULL	CCDS30714.1	1																																																																																			CC2D1B	-	-		0.456	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	AGAT	NM_032449		52818976	-1	no_errors	ENST00000460261	ensembl	human	known	70_37	rna	DEL	0.001:0.000:0.000:0.000	-
BRINP1	1620	genome.wustl.edu	37	9	121976225	121976225	+	Silent	SNP	G	G	A	rs376177879		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:121976225G>A	ENST00000265922.3	-	6	1355	c.894C>T	c.(892-894)gcC>gcT	p.A298A	BRINP1_ENST00000373964.2_Silent_p.A298A	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	298					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TATAAGCTTCGGCCCAAGACT	0.542																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	114.0	109.0	111.0		894	-7.6	0.9	9		111	0,8600		0,0,4300	no	coding-synonymous	DBC1	NM_014618.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		298/762	121976225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.894C>T	9.37:g.121976225G>A			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.A298	ENST00000265922.3	37	c.894	CCDS6822.1	9																																																																																			DBC1	-	NULL		0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121976225	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	0.221	A
DCAF4L1	285429	genome.wustl.edu	37	4	41984755	41984755	+	Missense_Mutation	SNP	G	G	A	rs143365042		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:41984755G>A	ENST00000333141.5	+	1	1043	c.946G>A	c.(946-948)Gcc>Acc	p.A316T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	316										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAATGAGTCCGCCTATCTGCC	0.552																																																	0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136.0	101.0	113.0		946	0.7	0.6	4	dbSNP_134	113	0,8600		0,0,4300	no	missense	DCAF4L1	NM_001029955.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/397	41984755	1,13005	2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.946G>A	4.37:g.41984755G>A	ENSP00000327796:p.Ala316Thr		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A316T	ENST00000333141.5	37	c.946	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869803	0.72065	2.27E-4	0.0	ENSG00000182308	ENST00000333141	T	0.57752	0.38	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.38175	1.15	0.41707	D	0.989439	D	0.67145	0.996	P	0.57468	0.821	T	0.39057	-0.9632	10	0.22109	T	0.4	.	7.1245	0.25463	1.0E-4:0.0:0.9999:0.0	.	316	Q3SXM0	DC4L1_HUMAN	T	316	ENSP00000327796:A316T	ENSP00000327796:A316T	A	+	1	0	DCAF4L1	41679512	1.000000	0.71417	0.631000	0.29282	0.752000	0.42762	5.659000	0.68010	0.635000	0.30488	0.313000	0.20887	GCC	DCAF4L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.552	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	G	NM_001029955		41984755	+1	no_errors	ENST00000333141	ensembl	human	known	70_37	missense	SNP	1.000	A
DUOXA1	90527	genome.wustl.edu	37	15	45415085	45415085	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr15:45415085G>C	ENST00000560572.1	-	1	133	c.128C>G	c.(127-129)cCt>cGt	p.P43R	DUOXA1_ENST00000559014.1_Missense_Mutation_p.P43R|DUOXA1_ENST00000267803.4_Missense_Mutation_p.P43R|DUOXA1_ENST00000430224.2_Missense_Mutation_p.P43R|DUOXA1_ENST00000558422.1_Missense_Mutation_p.P43R|DUOXA1_ENST00000558996.1_Missense_Mutation_p.P43R	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	43					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CCGAATGCCAGGCAGGATGAC	0.567																																																	0													123.0	106.0	112.0					15																	45415085		2198	4298	6496	SO:0001583	missense	90527			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.128C>G	15.37:g.45415085G>C	ENSP00000454084:p.Pro43Arg		Q8N6K9|Q96MI4	Missense_Mutation	SNP	pfam_Dual_oxidase_maturation_fac	p.P43R	ENST00000560572.1	37	c.128		15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566702	0.86439	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.76186	-1.0;-1.0	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90153	0.4222	10	0.87932	D	0	-12.861	17.9011	0.88904	0.0:0.0:1.0:0.0	.	43;43;43;43	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	R	43	ENSP00000267803:P43R;ENSP00000415512:P43R	ENSP00000267803:P43R	P	-	2	0	DUOXA1	43202377	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.292000	0.72725	2.818000	0.97014	0.655000	0.94253	CCT	DUOXA1	-	pfam_Dual_oxidase_maturation_fac		0.567	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000416242.1	G	NM_144565		45415085	-1	no_errors	ENST00000267803	ensembl	human	known	70_37	missense	SNP	1.000	C
E2F8	79733	genome.wustl.edu	37	11	19251318	19251318	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr11:19251318G>T	ENST00000527884.1	-	10	1808	c.1576C>A	c.(1576-1578)Cag>Aag	p.Q526K	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.Q526K	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	526					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTGGGCTGCAGGTAGATG	0.602																																																	0													105.0	100.0	102.0					11																	19251318		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1576C>A	11.37:g.19251318G>T	ENSP00000434199:p.Gln526Lys		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.Q526K	ENST00000527884.1	37	c.1576	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480129	0.44044	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17370	2.28;2.28	5.63	5.63	0.86233	.	0.301981	0.36893	N	0.002355	T	0.18635	0.0447	M	0.62723	1.935	0.45129	D	0.998143	P	0.38922	0.651	B	0.27262	0.078	T	0.04053	-1.0981	10	0.27082	T	0.32	-12.102	19.3046	0.94155	0.0:0.0:1.0:0.0	.	526	A0AVK6	E2F8_HUMAN	K	526	ENSP00000434199:Q526K;ENSP00000250024:Q526K	ENSP00000250024:Q526K	Q	-	1	0	E2F8	19207894	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.235000	0.72332	2.652000	0.90054	0.655000	0.94253	CAG	E2F8	-	NULL		0.602	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19251318	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	T
AGO3	192669	genome.wustl.edu	37	1	36475026	36475027	+	Intron	INS	-	-	A	rs556239903|rs3834076|rs397840917	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:36475026_36475027insA	ENST00000373191.4	+	9	1378				RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Intron|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AAGTAAGAGCTAAAAAAAAAAG	0.277													|||unknown(HR)	192	0.0383387	0.0023	0.0187	5008	,	,		15573	0.1607		0.005	False		,,,				2504	0.0092																0																																										SO:0001627	intron_variant	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1030-49->A	1.37:g.36475036_36475036dupA			B1ALI0|Q5TA55|Q9H1U6	RNA	INS	-	NULL	ENST00000373191.4	37	NULL	CCDS399.1	1																																																																																			EIF2C3	-	-		0.277	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	-	NM_024852		36475027	+1	no_errors	ENST00000479395	ensembl	human	known	70_37	rna	INS	0.026:0.011	A
ELOVL1	64834	genome.wustl.edu	37	1	43829755	43829755	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:43829755G>T	ENST00000372458.3	-	8	789	c.672C>A	c.(670-672)agC>agA	p.S224R	ELOVL1_ENST00000413844.2_Missense_Mutation_p.S197R|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	224					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTAGTTACAGCTGGACATAA	0.458																																																	0													113.0	98.0	103.0					1																	43829755		2203	4300	6503	SO:0001583	missense	64834			AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.672C>A	1.37:g.43829755G>T	ENSP00000361536:p.Ser224Arg		B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.S224R	ENST00000372458.3	37	c.672	CCDS485.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664904	0.29604	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.22945	1.93;1.93	5.7	3.84	0.44239	.	0.310058	0.47852	D	0.000208	T	0.21022	0.0506	L	0.35288	1.05	0.54753	D	0.999981	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.03296	-1.1051	10	0.72032	D	0.01	-17.8636	12.2627	0.54660	0.1375:0.0:0.8625:0.0	.	197;224	B4DP24;Q9BW60	.;ELOV1_HUMAN	R	224;197	ENSP00000361536:S224R;ENSP00000416024:S197R	ENSP00000361536:S224R	S	-	3	2	ELOVL1	43602342	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.051000	0.49885	0.773000	0.33404	-0.218000	0.12543	AGC	ELOVL1	-	pfam_GNS1_SUR4		0.458	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL1	HGNC	protein_coding	OTTHUMT00000019496.1	G	NM_022821		43829755	-1	no_errors	ENST00000372458	ensembl	human	known	70_37	missense	SNP	1.000	T
FANCC	2176	genome.wustl.edu	37	9	98009763	98009763	+	Silent	SNP	A	A	G			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:98009763A>G	ENST00000289081.3	-	3	455	c.201T>C	c.(199-201)atT>atC	p.I67I	FANCC_ENST00000375305.1_Silent_p.I67I	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	67					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ACAGTTGACCAATTGTGGGGA	0.328			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													117.0	123.0	121.0					9																	98009763		2203	4299	6502	SO:0001819	synonymous_variant	2176	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.201T>C	9.37:g.98009763A>G			B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.I67	ENST00000289081.3	37	c.201	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi		0.328	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	A	NM_000136		98009763	-1	no_errors	ENST00000289081	ensembl	human	known	70_37	silent	SNP	1.000	G
FJX1	24147	genome.wustl.edu	37	11	35642248	35642248	+	3'UTR	DEL	A	A	-	rs201586899|rs3834431|rs532787003	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr11:35642248delA	ENST00000317811.4	+	0	2514				FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)						retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CACCAGAAGGAAAAAAAAAAA	0.294																																					Melanoma(161;10 2587 27165 47356)												0																																										SO:0001624	3_prime_UTR_variant	24147			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.*750A>-	11.37:g.35642248delA			B2RCA9|Q9UGK6	RNA	DEL	-	NULL	ENST00000317811.4	37	NULL	CCDS44570.1	11																																																																																			FJX1	-	-		0.294	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1	A	NM_014344		35642248	+1	no_errors	ENST00000532914	ensembl	human	putative	70_37	rna	DEL	0.000	-
GPRIN2	9721	genome.wustl.edu	37	10	46999178	46999178	+	Missense_Mutation	SNP	A	A	C	rs7090312	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:46999178A>C	ENST00000374317.1	+	3	571	c.298A>C	c.(298-300)Acc>Ccc	p.T100P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.T100P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	100			T -> P (in dbSNP:rs7090312).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAATGTGTCCACCATGGGCGG	0.657																																																	0													29.0	31.0	31.0					10																	46999178		2193	4285	6478	SO:0001583	missense	9721			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.298A>C	10.37:g.46999178A>C	ENSP00000363436:p.Thr100Pro		Q5SVF0	Missense_Mutation	SNP	NULL	p.T100P	ENST00000374317.1	37	c.298	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481989	0.44147	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.57	-1.01	0.10169	.	0.659438	0.13433	N	0.388285	T	0.03959	0.0111	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40478	-0.9561	10	0.42905	T	0.14	-4.1201	1.1261	0.01735	0.3231:0.1696:0.3426:0.1646	rs7090312	100	O60269	GRIN2_HUMAN	P	100	ENSP00000363436:T100P;ENSP00000363433:T100P	ENSP00000363433:T100P	T	+	1	0	GPRIN2	46419184	0.000000	0.05858	0.005000	0.12908	0.978000	0.69477	0.003000	0.13083	0.152000	0.19188	0.528000	0.53228	ACC	GPRIN2	-	NULL		0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	A	NM_014696		46999178	+1	no_errors	ENST00000374314	ensembl	human	known	70_37	missense	SNP	0.084	C
GTF3C1	2975	genome.wustl.edu	37	16	27504033	27504033	+	Splice_Site	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr16:27504033G>A	ENST00000356183.4	-	18	2893	c.2878C>T	c.(2878-2880)Cgt>Tgt	p.R960C	GTF3C1_ENST00000561623.1_Splice_Site_p.R960C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	960					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAAATGTAACGCCTAGAAAAC	0.542																																																	0													87.0	90.0	89.0					16																	27504033		2197	4300	6497	SO:0001630	splice_region_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2877-1C>T	16.37:g.27504033G>A			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R960C	ENST00000356183.4	37	c.2878	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068939	0.76301	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	5.43	5.43	0.79202	.	0.113238	0.64402	D	0.000018	T	0.54481	0.1861	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.57694	-0.7767	10	0.87932	D	0	-24.7792	12.2189	0.54423	0.0:0.0:0.7161:0.2839	.	960;960	Q12789;Q12789-3	TF3C1_HUMAN;.	C	960;958	ENSP00000348510:R960C	ENSP00000348510:R960C	R	-	1	0	GTF3C1	27411534	1.000000	0.71417	0.991000	0.47740	0.655000	0.38815	6.500000	0.73687	2.547000	0.85894	0.655000	0.94253	CGT	GTF3C1	-	NULL		0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	G	NM_001520	Missense_Mutation	27504033	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63972950	63972952	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr15:63972950_63972952delCCT	ENST00000443617.2	-	35	6336_6338	c.6249_6251delAGG	c.(6247-6252)agaggt>agt	p.2083_2084RG>S	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2083	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCTTCATTACCTCTGTTTTCCT	0.365																																																	0																																										SO:0001651	inframe_deletion	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6249_6251delAGG	15.37:g.63972950_63972952delCCT	ENSP00000390158:p.Arg2083_Gly2084delinsSer		Q8IW65	In_Frame_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.RG2083in_frame_delS	ENST00000443617.2	37	c.6251_6249	CCDS45277.1	15																																																																																			HERC1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.365	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	CCT	NM_003922		63972952	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:0.999	-
HRNR	388697	genome.wustl.edu	37	1	152192700	152192700	+	Missense_Mutation	SNP	C	C	T	rs147754674		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:152192700C>T	ENST00000368801.2	-	3	1480	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	469					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567																																																	0								C	LYS/GLU	0,4406		0,0,2203	223.0	219.0	220.0		1405	0.7	0.0	1	dbSNP_134	220	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	469/2851	152192700	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1405G>A	1.37:g.152192700C>T	ENSP00000357791:p.Glu469Lys		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E469K	ENST00000368801.2	37	c.1405	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.701	0.693006	0.15039	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01838	4.61	2.69	0.67	0.17923	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.34372	0.451	B	0.23716	0.048	T	0.37079	-0.9721	9	0.06099	T	0.92	.	4.9755	0.14138	0.0:0.6834:0.0:0.3166	.	469	Q86YZ3	HORN_HUMAN	K	469	ENSP00000357791:E469K	ENSP00000357791:E469K	E	-	1	0	HRNR	150459324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.437000	0.02419	0.043000	0.15746	0.499000	0.49734	GAG	HRNR	-	NULL		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152192700	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
ITGB6	3694	genome.wustl.edu	37	2	160964291	160964291	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:160964291C>T	ENST00000283249.2	-	14	2404	c.2167G>A	c.(2167-2169)Ggg>Agg	p.G723R	ITGB6_ENST00000428609.2_Missense_Mutation_p.G681R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G723R|ITGB6_ENST00000409967.2_Missense_Mutation_p.G616R	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	723					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGACAACCCCGATGAGAAGA	0.423																																																	0													111.0	111.0	111.0					2																	160964291		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2167G>A	2.37:g.160964291C>T	ENSP00000283249:p.Gly723Arg		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.G723R	ENST00000283249.2	37	c.2167	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.080753	0.94050	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97328	-3.61;-3.62;-4.34;-3.61	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99383	1.0923	10	0.87932	D	0	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	681;723	E9PEE8;P18564	.;ITB6_HUMAN	R	723;681;616;723	ENSP00000283249:G723R;ENSP00000408024:G681R;ENSP00000386828:G616R;ENSP00000386367:G723R	ENSP00000283249:G723R	G	-	1	0	ITGB6	160672537	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.739000	0.93911	0.655000	0.94253	GGG	ITGB6	-	pirsf_Integrin_bsu,prints_Integrin_bsu		0.423	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	C	NM_000888		160964291	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ6	3763	genome.wustl.edu	37	21	39086687	39086687	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr21:39086687G>T	ENST00000609713.1	-	3	1362	c.773C>A	c.(772-774)aCg>aAg	p.T258K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T258K|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	258					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTTGATATCCGTCTGGTTCAA	0.502																																					Pancreas(48;379 1118 2936 19024 28214)												0													115.0	117.0	117.0					21																	39086687		1913	4142	6055	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.773C>A	21.37:g.39086687G>T	ENSP00000477437:p.Thr258Lys		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T258K	ENST00000609713.1	37	c.773	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504223	0.64410	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91464	-2.85;-2.85	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.65320	2	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93492	0.6836	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	258	P48051	IRK6_HUMAN	K	258	ENSP00000383330:T258K;ENSP00000288309:T258K	ENSP00000288309:T258K	T	-	2	0	KCNJ6	38008557	1.000000	0.71417	0.973000	0.42090	0.708000	0.40852	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	ACG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	G	NM_002240		39086687	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF14	9928	genome.wustl.edu	37	1	200528488	200528488	+	Silent	SNP	A	A	G			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:200528488A>G	ENST00000367350.4	-	27	4761	c.4323T>C	c.(4321-4323)caT>caC	p.H1441H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1441	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAAAGAGTTCATGCTGAAGTT	0.313																																																	0													74.0	75.0	75.0					1																	200528488		2203	4299	6502	SO:0001819	synonymous_variant	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4323T>C	1.37:g.200528488A>G			Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H1441	ENST00000367350.4	37	c.4323	CCDS30963.1	1																																																																																			KIF14	-	NULL		0.313	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	A	NM_014875		200528488	-1	no_errors	ENST00000367350	ensembl	human	known	70_37	silent	SNP	0.001	G
POTEB2	100287399	genome.wustl.edu	37	15	21038126	21038128	+	IGR	DEL	TAC	TAC	-	rs371524258		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	TAC	TAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr15:21038126_21038128delTAC	ENST00000454856.4	-	0	1687				MIR3118-4_ENST00000584700.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2																		tgcccacacatactacaataatt	0.478																																																	0																																										SO:0001628	intergenic_variant	100422906				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829		15.37:g.21038129_21038131delTAC				RNA	DEL	-	NULL	ENST00000454856.4	37	NULL	CCDS59248.1	15																																																																																			MIR3118-6	-	-		0.478	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3118-6	HGNC	protein_coding	OTTHUMT00000471435.1	TAC			21038128	+1	no_errors	ENST00000584700	ensembl	human	known	70_37	rna	DEL	0.000:0.000:0.000	-
MT-CO2	4513	genome.wustl.edu	37	M	7776	7776	+	Missense_Mutation	SNP	T	T	C			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chrM:7776T>C	ENST00000361739.1	+	1	191	c.191T>C	c.(190-192)gTc>gCc	p.V64A	MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	64					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AATAGAAACCGTCTGAACTAT	0.463																																																	0																																										SO:0001583	missense	4513					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.191T>C	M.37:g.7776T>C	ENSP00000354876:p.Val64Ala		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.V64A	ENST00000361739.1	37	c.191		MT																																																																																			MT-CO2	-	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2		0.463	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		T	YP_003024029		7776	+1	no_errors	ENST00000361739	ensembl	human	known	70_37	missense	SNP	NULL	C
NCF2	4688	genome.wustl.edu	37	1	183542373	183542373	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:183542373T>A	ENST00000367535.3	-	5	807	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000413720.1_Missense_Mutation_p.N141Y|NCF2_ENST00000367536.1_Missense_Mutation_p.N186Y	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	186					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TGTCTCTCATTTGGTCGAAAC	0.537																																																	0													213.0	196.0	202.0					1																	183542373		2203	4300	6503	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.556A>T	1.37:g.183542373T>A	ENSP00000356505:p.Asn186Tyr		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.N186Y	ENST00000367535.3	37	c.556	CCDS1356.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378799	0.82682	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000367535	T;T;T	0.67171	-0.2;-0.25;-0.2	5.08	5.08	0.68730	.	0.228970	0.50627	D	0.000106	T	0.80465	0.4628	M	0.80616	2.505	0.80722	D	1	P;D	0.76494	0.947;0.999	P;P	0.61201	0.538;0.885	D	0.83779	0.0224	10	0.72032	D	0.01	-11.4661	14.8259	0.70113	0.0:0.0:0.0:1.0	.	141;186	E9PHX3;P19878	.;NCF2_HUMAN	Y	186;214;141;186	ENSP00000356506:N186Y;ENSP00000399294:N141Y;ENSP00000356505:N186Y	ENSP00000356505:N186Y	N	-	1	0	NCF2	181808996	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	7.156000	0.77453	1.902000	0.55061	0.477000	0.44152	AAT	NCF2	-	NULL		0.537	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	T	NM_000433		183542373	-1	no_errors	ENST00000367535	ensembl	human	known	70_37	missense	SNP	1.000	A
NOP14	8602	genome.wustl.edu	37	4	2940996	2940996	+	Missense_Mutation	SNP	C	C	T	rs148382749	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:2940996C>T	ENST00000314262.6	-	17	2441	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_Intron|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.R798H|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14_ENST00000502735.1_Intron|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	798					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTAAATTCACGCTTGTGTTT	0.493																																																	0								C	HIS/ARG	0,4406		0,0,2203	243.0	245.0	244.0		2393	4.6	0.8	4	dbSNP_134	244	3,8597	3.0+/-9.4	0,3,4297	no	missense	NOP14	NM_003703.1	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	798/858	2940996	3,13003	2203	4300	6503	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2393G>A	4.37:g.2940996C>T	ENSP00000315674:p.Arg798His		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.R798H	ENST00000314262.6	37	c.2393	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519447	0.85495	0.0	3.49E-4	ENSG00000087269	ENST00000416614;ENST00000314262	T;T	0.35973	1.28;1.28	5.44	4.59	0.56863	.	0.066852	0.64402	D	0.000011	T	0.66046	0.2750	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.72890	-0.4155	10	0.87932	D	0	-21.7793	14.7988	0.69898	0.0:0.9296:0.0:0.0704	.	798	P78316	NOP14_HUMAN	H	798	ENSP00000405068:R798H;ENSP00000315674:R798H	ENSP00000315674:R798H	R	-	2	0	NOP14	2910794	0.994000	0.37717	0.793000	0.32043	0.987000	0.75469	3.046000	0.49846	2.837000	0.97791	0.655000	0.94253	CGT	NOP14	-	pfam_Nop14		0.493	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	C	NM_003703		2940996	-1	no_errors	ENST00000416614	ensembl	human	known	70_37	missense	SNP	0.986	T
OVOL2	58495	genome.wustl.edu	37	20	18022346	18022346	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:18022346C>T	ENST00000278780.6	-	3	585	c.343G>A	c.(343-345)Gac>Aac	p.D115N	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	115					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACCACCGAGTCGCTGCACGTG	0.612																																																	0													77.0	56.0	63.0					20																	18022346		2203	4300	6503	SO:0001583	missense	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.343G>A	20.37:g.18022346C>T	ENSP00000278780:p.Asp115Asn		Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D115N	ENST00000278780.6	37	c.343	CCDS13132.1	20	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944620	0.34283	.	.	ENSG00000125850	ENST00000278780	T	0.08896	3.04	5.57	4.62	0.57501	.	0.319355	0.32624	N	0.005857	T	0.06325	0.0163	N	0.17082	0.46	0.24499	N	0.994268	B	0.23128	0.08	B	0.12837	0.008	T	0.28459	-1.0043	10	0.32370	T	0.25	-42.7003	14.876	0.70493	0.0:0.9297:0.0:0.0703	.	115	Q9BRP0	OVOL2_HUMAN	N	115	ENSP00000278780:D115N	ENSP00000278780:D115N	D	-	1	0	OVOL2	17970346	0.920000	0.31207	0.440000	0.26846	0.671000	0.39405	3.239000	0.51360	1.324000	0.45282	0.655000	0.94253	GAC	OVOL2	-	NULL		0.612	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL2	HGNC	protein_coding	OTTHUMT00000078148.5	C	NM_021220		18022346	-1	no_errors	ENST00000278780	ensembl	human	known	70_37	missense	SNP	0.611	T
PCGF5	84333	genome.wustl.edu	37	10	93011180	93011180	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:93011180G>A	ENST00000336126.5	+	6	689	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	PCGF5_ENST00000543648.1_Missense_Mutation_p.G153R	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TGGGCAATCAGGGGACAATGT	0.328																																					Colon(178;732 2696 46441 50370)												0													125.0	118.0	121.0					10																	93011180		2203	4299	6502	SO:0001583	missense	84333			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.457G>A	10.37:g.93011180G>A	ENSP00000337500:p.Gly153Arg		B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G153R	ENST00000336126.5	37	c.457	CCDS7413.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457375	0.84317	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.44083	0.93;0.93	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.48801	-0.9003	10	0.23891	T	0.37	-9.7153	20.6397	0.99537	0.0:0.0:1.0:0.0	.	153	Q86SE9	PCGF5_HUMAN	R	153	ENSP00000445704:G153R;ENSP00000337500:G153R	ENSP00000337500:G153R	G	+	1	0	PCGF5	93001160	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.076000	0.94009	2.880000	0.98712	0.650000	0.86243	GGG	PCGF5	-	NULL		0.328	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF5	HGNC	protein_coding	OTTHUMT00000049363.1	G	NM_032373		93011180	+1	no_errors	ENST00000336126	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCB1	23236	genome.wustl.edu	37	20	8665620	8665620	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:8665620G>A	ENST00000338037.6	+	10	931	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E302K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E302K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	302					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTGAGTGGAGAAGAAAACGG	0.433																																																	0													155.0	146.0	149.0					20																	8665620		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.904G>A	20.37:g.8665620G>A	ENSP00000338185:p.Glu302Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E302K	ENST00000338037.6	37	c.904	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999476	0.74818	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.46451	0.87;0.87;0.87	6.06	5.12	0.69794	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.55481	1.735	0.58432	D	0.999997	B;D	0.67145	0.389;0.996	B;P	0.62813	0.213;0.907	T	0.54801	-0.8239	10	0.35671	T	0.21	.	15.4877	0.75578	0.0662:0.0:0.9338:0.0	.	302;302	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	302;302;302;222;222	ENSP00000367908:E302K;ENSP00000338185:E302K;ENSP00000367904:E302K	ENSP00000338185:E302K	E	+	1	0	PLCB1	8613620	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.674000	0.74487	1.572000	0.49736	0.650000	0.86243	GAA	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.433	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8665620	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A
POLR2B	5431	genome.wustl.edu	37	4	57872999	57872999	+	Missense_Mutation	SNP	T	T	G			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr4:57872999T>G	ENST00000381227.1	+	11	1648	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	POLR2B_ENST00000431623.2_Missense_Mutation_p.L337R|POLR2B_ENST00000314595.5_Missense_Mutation_p.L412R|POLR2B_ENST00000441246.2_Missense_Mutation_p.L405R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	412					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGAATTTGCTTAAAGAAGTG	0.328																																																	0													67.0	75.0	72.0					4																	57872999		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1235T>G	4.37:g.57872999T>G	ENSP00000370625:p.Leu412Arg		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L412R	ENST00000381227.1	37	c.1235	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113200	0.77210	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.2	5.2	0.72013	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.41356	1.27	0.80722	D	1	B;B	0.29671	0.254;0.254	B;B	0.43783	0.431;0.431	T	0.68070	-0.5506	10	0.72032	D	0.01	.	15.3615	0.74478	0.0:0.0:0.0:1.0	.	337;412	C9J4M6;P30876	.;RPB2_HUMAN	R	412;337;405;412	ENSP00000370625:L412R;ENSP00000391096:L337R;ENSP00000391452:L405R;ENSP00000312735:L412R	ENSP00000312735:L412R	L	+	2	0	POLR2B	57567756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.134000	0.71689	2.102000	0.63906	0.533000	0.62120	CTT	POLR2B	-	pfam_RNA_pol_bsu_protrusion		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	T	NM_000938		57872999	+1	no_errors	ENST00000314595	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8499699	8499699	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:8499699C>T	ENST00000381196.4	-	22	2813	c.2270G>A	c.(2269-2271)gGt>gAt	p.G757D	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G744D|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.G744D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G757D|PTPRD_ENST00000356435.5_Missense_Mutation_p.G757D|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	757	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTGGGCTCACCATTTTCCAT	0.443										TSP Lung(15;0.13)																																							0													184.0	159.0	167.0					9																	8499699		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2270G>A	9.37:g.8499699C>T	ENSP00000370593:p.Gly757Asp		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G757D	ENST00000381196.4	37	c.2270	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919749	0.73098	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.69	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.63428	1.95	0.80722	D	1	D;D;B	0.76494	0.962;0.999;0.202	P;D;B	0.75020	0.786;0.985;0.217	T	0.73665	-0.3911	9	.	.	.	.	16.5957	0.84795	0.0:0.8697:0.1303:0.0	.	744;757;757	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	D	757;757;744;744;757	ENSP00000370593:G757D;ENSP00000348812:G757D;ENSP00000353187:G744D;ENSP00000351293:G744D;ENSP00000438164:G757D	.	G	-	2	0	PTPRD	8489699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.782000	0.68973	1.379000	0.46325	0.591000	0.81541	GGT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8499699	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB13	5872	genome.wustl.edu	37	1	153954808	153954808	+	Intron	SNP	C	C	T	rs372691843|rs371708064|rs61805527	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr1:153954808C>T	ENST00000368575.3	-	7	650				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			cacacacacacacatacatac	0.463													t|||	315	0.0628994	0.0446	0.0317	5008	,	,		17352	0.1716		0.0348	False		,,,				2504	0.0266				Ovarian(138;395 2427 24306 43415)												0													83.0	79.0	80.0					1																	153954808		692	1591	2283	SO:0001627	intron_variant	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.534+58G>A	1.37:g.153954808C>T			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-		0.463	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	C	NM_002870		153954808	-1	no_errors	ENST00000462680	ensembl	human	known	70_37	rna	SNP	0.001	T
SGOL1	151648	genome.wustl.edu	37	3	20212755	20212755	+	Intron	DEL	A	A	-	rs202135893|rs369158870	byFrequency	TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr3:20212755delA	ENST00000263753.4	-	7	1422				SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000421451.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412997.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000412868.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)						attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AATATGATTTAAAAAAAAAAA	0.308																																																	0													26.0	28.0	27.0					3																	20212755		2201	4297	6498	SO:0001627	intron_variant	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1283-31T>-	3.37:g.20212755delA			Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	RNA	DEL	-	NULL	ENST00000263753.4	37	NULL	CCDS33716.1	3																																																																																			SGOL1	-	-		0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	A	NM_138484		20212755	-1	no_errors	ENST00000460637	ensembl	human	putative	70_37	rna	DEL	0.000	-
SH3BP4	23677	genome.wustl.edu	37	2	235949858	235949858	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:235949858A>C	ENST00000409212.1	+	4	952	c.445A>C	c.(445-447)Aaa>Caa	p.K149Q	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K149Q|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K149Q			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	149					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACAGATGACAAAAAAGTACC	0.512																																																	0													89.0	91.0	90.0					2																	235949858		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.445A>C	2.37:g.235949858A>C	ENSP00000386862:p.Lys149Gln		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.K149Q	ENST00000409212.1	37	c.445	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	A	4.968	0.179717	0.09443	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.26373	2.95;2.95;2.95;1.74	4.87	1.3	0.21679	.	1.123330	0.06534	N	0.741967	T	0.15696	0.0378	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34700	-0.9818	10	0.19147	T	0.46	-7.4444	6.9181	0.24371	0.5301:0.383:0.0869:0.0	.	149;149	A8K594;Q9P0V3	.;SH3B4_HUMAN	Q	149	ENSP00000375867:K149Q;ENSP00000386862:K149Q;ENSP00000340237:K149Q;ENSP00000415391:K149Q	ENSP00000340237:K149Q	K	+	1	0	SH3BP4	235614597	0.531000	0.26338	0.020000	0.16555	0.048000	0.14542	1.229000	0.32600	-0.015000	0.14150	0.533000	0.62120	AAA	SH3BP4	-	NULL		0.512	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	A			235949858	+1	no_errors	ENST00000344528	ensembl	human	known	70_37	missense	SNP	0.091	C
SIRPA	140885	genome.wustl.edu	37	20	1915398	1915398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr20:1915398C>T	ENST00000358771.4	+	7	1416	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q422*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q422*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	422					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGAAATAACACAGGTACAGTC	0.453																																					GBM(155;1668 1920 5945 42733 48121)												0													156.0	135.0	142.0					20																	1915398		2203	4300	6503	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1264C>T	20.37:g.1915398C>T	ENSP00000351621:p.Gln422*		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q422*	ENST00000358771.4	37	c.1264	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.786917	0.96937	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.43	4.43	0.53597	.	0.000000	0.41097	D	0.000946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.7286	0.57185	0.0:1.0:0.0:0.0	.	.	.	.	X	422	.	ENSP00000348307:Q422X	Q	+	1	0	SIRPA	1863398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.136000	0.58004	2.456000	0.83038	0.561000	0.74099	CAG	SIRPA	-	NULL		0.453	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1915398	+1	no_errors	ENST00000400068	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC12A7	10723	genome.wustl.edu	37	5	1078023	1078023	+	Silent	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr5:1078023G>A	ENST00000264930.5	-	12	1597	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	518					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTGCAGGCCGGCACCGCAGG	0.701																																																	0													18.0	20.0	19.0					5																	1078023		2186	4282	6468	SO:0001819	synonymous_variant	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1554C>T	5.37:g.1078023G>A			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A518	ENST00000264930.5	37	c.1554	CCDS34129.1	5																																																																																			SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.701	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	G	NM_006598		1078023	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	silent	SNP	0.553	A
SPAST	6683	genome.wustl.edu	37	2	32340826	32340826	+	Missense_Mutation	SNP	G	G	A	rs202152835		TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr2:32340826G>A	ENST00000315285.3	+	6	1051	c.926G>A	c.(925-927)cGt>cAt	p.R309H	SPAST_ENST00000345662.1_Missense_Mutation_p.R277H	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTGCTACTCGTAAGAAAAAA	0.323																																																	0													87.0	96.0	93.0					2																	32340826		2203	4298	6501	SO:0001583	missense	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.926G>A	2.37:g.32340826G>A	ENSP00000320885:p.Arg309His			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.R309H	ENST00000315285.3	37	c.926	CCDS1778.1	2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150602	0.57151	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.63913	-0.07;-0.07	5.76	3.88	0.44766	.	0.574590	0.18817	N	0.130348	T	0.56001	0.1956	L	0.32530	0.975	0.58432	D	0.999995	D;P	0.64830	0.994;0.942	P;B	0.48571	0.582;0.28	T	0.55805	-0.8083	10	0.45353	T	0.12	-14.5509	10.9547	0.47351	0.1606:0.0:0.8394:0.0	.	277;309	E5KRP6;Q9UBP0	.;SPAST_HUMAN	H	277;309	ENSP00000340817:R277H;ENSP00000320885:R309H	ENSP00000320885:R309H	R	+	2	0	SPAST	32194330	1.000000	0.71417	0.920000	0.36463	0.982000	0.71751	4.133000	0.57983	1.353000	0.45828	0.460000	0.39030	CGT	SPAST	-	pirsf_Spastin		0.323	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	G	NM_199436		32340826	+1	no_errors	ENST00000315285	ensembl	human	known	70_37	missense	SNP	0.924	A
TDRD1	56165	genome.wustl.edu	37	10	115973875	115973875	+	Splice_Site	SNP	T	T	C			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr10:115973875T>C	ENST00000369280.1	+	16	2672		c.e16+2		TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000251864.2_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1						DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGAGGATGGTAAGTTGATTC	0.353																																																	0													274.0	251.0	259.0					10																	115973875		2203	4300	6503	SO:0001630	splice_region_variant	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2212+2T>C	10.37:g.115973875T>C			A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Splice_Site	SNP	-	e15+2	ENST00000369280.1	37	c.2212+2		10	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662474	0.67700	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5632	0.61802	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD1	115963865	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.307000	0.65762	2.123000	0.65237	0.460000	0.39030	.	TDRD1	-	-		0.353	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	T		Intron	115973875	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	splice_site	SNP	1.000	C
AC005013.5	0	genome.wustl.edu	37	7	28995360	28995360	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr7:28995360C>T	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							CACGGTGGTGCGTGGCCGGTG	0.706																																																	0													9.0	13.0	12.0					7																	28995360		1543	3094	4637			9865																															7.37:g.28995360C>T				RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-		0.706	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	C			28995360	-1	no_errors	ENST00000322982	ensembl	human	known	70_37	rna	SNP	0.973	T
TRO	7216	genome.wustl.edu	37	X	54951467	54951467	+	Missense_Mutation	SNP	A	A	G			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chrX:54951467A>G	ENST00000173898.7	+	6	1563	c.1451A>G	c.(1450-1452)gAa>gGa	p.E484G	TRO_ENST00000399736.1_Missense_Mutation_p.E87G|TRO_ENST00000375041.2_Missense_Mutation_p.E87G|TRO_ENST00000319167.8_Missense_Mutation_p.E484G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.E15G|TRO_ENST00000375022.4_Missense_Mutation_p.E484G|TRO_ENST00000484031.1_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	484	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TATTTCCCAGAAATCATTGAA	0.493																																																	0													62.0	56.0	58.0					X																	54951467		2147	4246	6393	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1451A>G	X.37:g.54951467A>G	ENSP00000173898:p.Glu484Gly		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E484G	ENST00000173898.7	37	c.1451	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278993	0.59758	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000431115;ENST00000375041	T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39	2.66	2.66	0.31614	.	.	.	.	.	T	0.28400	0.0702	M	0.93106	3.38	0.40789	D	0.983246	D;D;D;D	0.89917	0.997;0.987;1.0;0.997	D;D;D;D	0.91635	0.996;0.95;0.999;0.996	T	0.10064	-1.0646	9	0.87932	D	0	.	8.0191	0.30398	1.0:0.0:0.0:0.0	.	87;87;484;484	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	G	484;484;484;87;87;15;87;87	ENSP00000173898:E484G;ENSP00000318278:E484G;ENSP00000364162:E484G;ENSP00000382641:E87G;ENSP00000405126:E15G;ENSP00000407996:E87G;ENSP00000364181:E87G	ENSP00000173898:E484G	E	+	2	0	TRO	54968192	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.071000	0.57556	1.277000	0.44412	0.345000	0.21793	GAA	TRO	-	pfam_MAGE,pfscan_MAGE		0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	A	NM_016157		54951467	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	1.000	G
TTLL12	23170	genome.wustl.edu	37	22	43569750	43569750	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr22:43569750T>A	ENST00000216129.6	-	9	1375	c.1312A>T	c.(1312-1314)Atc>Ttc	p.I438F	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	438	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGCCGGATGATGCTGTGCAGG	0.677																																																	0													73.0	66.0	69.0					22																	43569750		2203	4300	6503	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1312A>T	22.37:g.43569750T>A	ENSP00000216129:p.Ile438Phe		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I438F	ENST00000216129.6	37	c.1312	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261413	0.80358	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.08458	3.09	4.96	-0.999	0.10208	.	0.158159	0.53938	D	0.000058	T	0.29126	0.0724	M	0.92784	3.345	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.74023	0.982;0.982	T	0.01524	-1.1333	10	0.66056	D	0.02	-13.8995	6.8467	0.23992	0.0:0.1514:0.1096:0.7391	.	438;438	B1AH89;Q14166	.;TTL12_HUMAN	F	438	ENSP00000216129:I438F	ENSP00000216129:I438F	I	-	1	0	TTLL12	41899694	1.000000	0.71417	0.580000	0.28601	0.993000	0.82548	3.136000	0.50554	-0.637000	0.05516	0.383000	0.25322	ATC	TTLL12	-	pfam_Tub_tyr_ligase		0.677	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	T	NM_015140		43569750	-1	no_errors	ENST00000216129	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK2	65268	genome.wustl.edu	37	9	95947670	95947670	+	Missense_Mutation	SNP	G	G	T			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr9:95947670G>T	ENST00000297954.4	+	1	459	c.459G>T	c.(457-459)aaG>aaT	p.K153N	WNK2_ENST00000395477.2_Missense_Mutation_p.K153N|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.K139N	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	153					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCGTGAGGAAGGAGGATGAGG	0.756																																																	0													7.0	9.0	9.0					9																	95947670		2140	4206	6346	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.459G>T	9.37:g.95947670G>T	ENSP00000297954:p.Lys153Asn		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K153N	ENST00000297954.4	37	c.459		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.853|9.853	1.194324|1.194324	0.22037|0.22037	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475|ENST00000432730	T;T;T;T|.	0.71461|.	-0.57;-0.42;-0.41;-0.56|.	4.14|4.14	2.27|2.27	0.28462|0.28462	.|.	0.539882|.	0.15009|.	N|.	0.285680|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.14661|0.14661	0.345|0.345	0.53688|0.53688	D|D	0.999973|0.999973	P;B;P;B|.	0.36535|.	0.557;0.403;0.557;0.421|.	B;B;B;B|.	0.33196|.	0.12;0.159;0.12;0.08|.	T|T	0.04678|0.04678	-1.0934|-1.0934	10|5	0.23891|.	T|.	0.37|.	.|.	8.8156|8.8156	0.34993|0.34993	0.2631:0.0:0.7369:0.0|0.2631:0.0:0.7369:0.0	.|.	153;153;153;153|.	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	N|M	153;153;153;139|149	ENSP00000412465:K153N;ENSP00000297954:K153N;ENSP00000378860:K153N;ENSP00000378858:K139N|.	ENSP00000297954:K153N|.	K|R	+|+	3|2	2|0	WNK2|WNK2	94987491|94987491	0.000000|0.000000	0.05858|0.05858	0.591000|0.591000	0.28745|0.28745	0.373000|0.373000	0.29922|0.29922	0.631000|0.631000	0.24568|0.24568	0.328000|0.328000	0.23435|0.23435	0.486000|0.486000	0.48141|0.48141	AAG|AGG	WNK2	-	NULL		0.756	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	G	NM_006648		95947670	+1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.624	T
TSIX	9383	genome.wustl.edu	37	X	73044044	73044044	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chrX:73044044G>A	ENST00000604411.1	+	0	32005				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ctagcaatgagattggcacac	0.338																																																	0													3.0	3.0	3.0					X																	73044044		727	1665	2392			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73044044G>A				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.338	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	G	NR_003255		73044044	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF521	25925	genome.wustl.edu	37	18	22805593	22805593	+	Silent	SNP	G	G	A			TCGA-JW-A5VG-01A-11D-A28B-09	TCGA-JW-A5VG-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	abc2974a-e46f-4080-8dea-49c60ee75673	7d2b2722-22bc-4ac7-aea3-0040394413c0	g.chr18:22805593G>A	ENST00000361524.3	-	4	2437	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N	ZNF521_ENST00000538137.2_Silent_p.N763N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.N543N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	763					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCAGTTTCGTTGCGGAAGT	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													96.0	84.0	88.0					18																	22805593		2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2289C>T	18.37:g.22805593G>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N763	ENST00000361524.3	37	c.2289	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22805593	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.018	A
