#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
ADAM21P1	145241	genome.wustl.edu	37	14	70714518	70714518	+	RNA	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:70714518G>A	ENST00000530196.1	-	0	0					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGCAATGTTGGAAGTAAAAAT	0.458																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714518G>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.458	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	G	NG_002467		70714518	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.497	A
ADORA3	140	genome.wustl.edu	37	1	112042770	112042770	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:112042770G>C	ENST00000241356.4	-	2	1164	c.759C>G	c.(757-759)atC>atG	p.I253M	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	253					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CATTAAAGTAGATGATGCAGT	0.438																																																	0													104.0	98.0	100.0					1																	112042770		2203	4300	6503	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.759C>G	1.37:g.112042770G>C	ENSP00000241356:p.Ile253Met		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.I253M	ENST00000241356.4	37	c.759	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	G	4.515	0.095486	0.08681	.	.	ENSG00000121933	ENST00000241356	T	0.71698	-0.59	5.01	-0.681	0.11342	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28599	0.0708	N	0.13235	0.315	0.09310	N	1	B	0.16166	0.016	B	0.23275	0.045	T	0.28073	-1.0055	9	0.42905	T	0.14	.	5.8523	0.18699	0.0837:0.5214:0.2594:0.1355	.	253	P33765	AA3R_HUMAN	M	253	ENSP00000241356:I253M	ENSP00000241356:I253M	I	-	3	3	ADORA3	111844293	0.000000	0.05858	0.065000	0.19835	0.052000	0.14988	-0.445000	0.06845	0.211000	0.20683	0.650000	0.86243	ATC	ADORA3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt		0.438	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	G	NM_000677, NM_020683		112042770	-1	no_errors	ENST00000241356	ensembl	human	known	70_37	missense	SNP	0.059	C
AKAP4	8852	genome.wustl.edu	37	X	49958883	49958883	+	Missense_Mutation	SNP	C	C	A	rs147502980	byFrequency	TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:49958883C>A	ENST00000376056.2	-	5	604	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	AKAP4_ENST00000376064.3_Missense_Mutation_p.D152Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D152Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.D161Y					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCACTTGATCGGCATAGACA	0.433																																																	0													201.0	167.0	178.0					X																	49958883		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.454G>T	X.37:g.49958883C>A	ENSP00000365224:p.Asp152Tyr			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D161Y	ENST00000376056.2	37	c.481	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	2.112	-0.403583	0.04832	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.44482	2.37;1.14;2.36;2.37;0.92;1.08	4.7	3.77	0.43336	.	0.172886	0.27092	N	0.020967	T	0.55337	0.1914	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.68353	0.791;0.957	T	0.45011	-0.9290	9	.	.	.	-5.5081	7.7671	0.28986	0.0:0.8709:0.0:0.1291	.	161;152	Q5JQC9;A6ND82	AKAP4_HUMAN;.	Y	152;152;161;152;152;152	ENSP00000365224:D152Y;ENSP00000365226:D152Y;ENSP00000351327:D161Y;ENSP00000365232:D152Y;ENSP00000402403:D152Y;ENSP00000412279:D152Y	.	D	-	1	0	AKAP4	49845623	0.827000	0.29292	0.020000	0.16555	0.145000	0.21501	1.300000	0.33436	0.692000	0.31613	0.292000	0.19580	GAT	AKAP4	-	smart_AKAP_110		0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49958883	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	0.204	A
ARFGAP1	55738	genome.wustl.edu	37	20	61915226	61915226	+	Intron	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:61915226G>A	ENST00000370283.4	+	10	857				ARFGAP1_ENST00000547204.1_Silent_p.P173P|ARFGAP1_ENST00000519273.2_Intron|ARFGAP1_ENST00000353546.3_Silent_p.P247P|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000370275.4_Intron|ARFGAP1_ENST00000519604.1_Silent_p.P194P	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AGCAGCAGCCGGAGCCGGTAA	0.597																																																	0													171.0	159.0	163.0					20																	61915226		2203	4300	6503	SO:0001627	intron_variant	55738			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.718-992G>A	20.37:g.61915226G>A			B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P247	ENST00000370283.4	37	c.741	CCDS13515.1	20																																																																																			ARFGAP1	-	NULL		0.597	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	G	NM_018209		61915226	+1	no_errors	ENST00000353546	ensembl	human	known	70_37	silent	SNP	0.988	A
ARHGEF15	22899	genome.wustl.edu	37	17	8216548	8216548	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:8216548C>G	ENST00000361926.3	+	3	1020	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.L304V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	304					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCTTGATCTGCTTTCTGAAGA	0.587																																																	0													43.0	44.0	44.0					17																	8216548		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.910C>G	17.37:g.8216548C>G	ENSP00000355026:p.Leu304Val		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.L304V	ENST00000361926.3	37	c.910	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	8.956	0.969336	0.18659	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.43294	0.95;0.95	5.13	5.13	0.70059	.	1.480570	0.03990	N	0.294651	T	0.35008	0.0917	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.12656	-1.0539	10	0.29301	T	0.29	-5.2263	13.9397	0.64048	0.0:1.0:0.0:0.0	.	304	O94989	ARHGF_HUMAN	V	304	ENSP00000355026:L304V;ENSP00000412505:L304V	ENSP00000355026:L304V	L	+	1	0	ARHGEF15	8157273	0.870000	0.30015	0.013000	0.15412	0.804000	0.45430	3.638000	0.54332	2.667000	0.90743	0.561000	0.74099	CTT	ARHGEF15	-	NULL		0.587	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8216548	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.012	G
ATP6V0A1	535	genome.wustl.edu	37	17	40652734	40652734	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:40652734G>A	ENST00000343619.4	+	16	1812	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K	ATP6V0A1_ENST00000544137.1_Silent_p.K209K|ATP6V0A1_ENST00000393829.2_Silent_p.K563K|ATP6V0A1_ENST00000585525.1_Silent_p.K520K|ATP6V0A1_ENST00000264649.6_Silent_p.K570K|ATP6V0A1_ENST00000546249.1_Silent_p.K563K|ATP6V0A1_ENST00000537728.1_Silent_p.K520K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	563					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTATTTCAAGAAGCCCCTGA	0.363																																																	0													105.0	103.0	104.0					17																	40652734		2203	4300	6503	SO:0001819	synonymous_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1689G>A	17.37:g.40652734G>A			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_ATPase_V0/A0_a	p.K570	ENST00000343619.4	37	c.1710	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_ATPase_V0/A0_a		0.363	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	G	NM_001130020		40652734	+1	no_errors	ENST00000264649	ensembl	human	known	70_37	silent	SNP	1.000	A
AUNIP	79000	genome.wustl.edu	37	1	26161951	26161951	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:26161951C>T	ENST00000374298.3	-	3	661	c.607G>A	c.(607-609)Gag>Aag	p.E203K	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.E203K	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	203	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TTCTTAGACTCATGAAGCCAT	0.453																																																	0													181.0	185.0	184.0					1																	26161951		2203	4300	6503	SO:0001583	missense	79000				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.607G>A	1.37:g.26161951C>T	ENSP00000363416:p.Glu203Lys		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.E203K	ENST00000374298.3	37	c.607	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384915	0.04966	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.42900	0.96;0.96	5.25	1.34	0.21922	.	0.694765	0.12698	N	0.446596	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.27606	-1.0069	10	0.09590	T	0.72	-26.469	7.003	0.24820	0.0:0.6395:0.0:0.3605	.	203	Q9H7T9	CA135_HUMAN	K	203	ENSP00000443647:E203K;ENSP00000363416:E203K	ENSP00000363416:E203K	E	-	1	0	C1orf135	26034538	0.013000	0.17824	0.301000	0.25044	0.266000	0.26442	-0.002000	0.12924	0.458000	0.26988	-0.224000	0.12420	GAG	AUNIP	-	NULL		0.453	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	C	NM_024037		26161951	-1	no_errors	ENST00000538789	ensembl	human	known	70_37	missense	SNP	0.101	T
B4GALT4	8702	genome.wustl.edu	37	3	118931488	118931488	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:118931488C>T	ENST00000483209.1	-	8	1584	c.943G>A	c.(943-945)Gat>Aat	p.D315N	B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.D315N|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.D315N			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	315					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTCAACCCATCTGTTCTCCAG	0.368																																																	0													113.0	106.0	108.0					3																	118931488		2203	4300	6503	SO:0001583	missense	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.943G>A	3.37:g.118931488C>T	ENSP00000420161:p.Asp315Asn		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.D315N	ENST00000483209.1	37	c.943	CCDS2986.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012388	0.93346	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.38560	1.13;1.13;1.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78863	-0.2036	10	0.87932	D	0	-23.0822	17.8886	0.88864	0.0:1.0:0.0:0.0	.	315	O60513	B4GT4_HUMAN	N	315	ENSP00000420161:D315N;ENSP00000352144:D315N;ENSP00000377360:D315N	ENSP00000352144:D315N	D	-	1	0	B4GALT4	120414178	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.519000	0.73768	2.793000	0.96121	0.655000	0.94253	GAT	B4GALT4	-	pfam_Galactosyl_T_2_met		0.368	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	C	NM_003778		118931488	-1	no_errors	ENST00000359213	ensembl	human	known	70_37	missense	SNP	1.000	T
BPIFC	254240	genome.wustl.edu	37	22	32853304	32853304	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:32853304G>C	ENST00000397452.1	-	2	180	c.70C>G	c.(70-72)Cag>Gag	p.Q24E	BPIFC_ENST00000300399.3_Missense_Mutation_p.Q24E|BPIFC_ENST00000397450.1_Missense_Mutation_p.Q24E|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	24						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TAAATGGTCTGAGAGGATGAG	0.463											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													129.0	118.0	122.0					22																	32853304		2203	4300	6503	SO:0001583	missense	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.70C>G	22.37:g.32853304G>C	ENSP00000380594:p.Gln24Glu	835	A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q24E	ENST00000397452.1	37	c.70	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	g	2.954	-0.216170	0.06101	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T	0.04454	3.62;3.62	4.83	0.0686	0.14370	.	0.831568	0.10851	N	0.627171	T	0.03434	0.0099	L	0.39397	1.21	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.48151	-0.9060	10	0.17369	T	0.5	0.0552	1.3172	0.02110	0.1966:0.1727:0.4531:0.1777	.	24;24	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	E	24	ENSP00000380594:Q24E;ENSP00000300399:Q24E	ENSP00000300399:Q24E	Q	-	1	0	BPIFC	31183304	0.000000	0.05858	0.006000	0.13384	0.405000	0.30901	-0.360000	0.07622	0.073000	0.16731	-0.279000	0.10071	CAG	BPIFC	-	NULL		0.463	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	G	NM_174932		32853304	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	missense	SNP	0.012	C
CAMSAP1	157922	genome.wustl.edu	37	9	138758251	138758251	+	Intron	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:138758251G>T	ENST00000389532.4	-	4	731				CAMSAP1_ENST00000409386.3_Intron|CAMSAP1_ENST00000312405.6_Intron	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1						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)		CTTTAAAATTGGGACCAACAT	0.343																																																	0													228.0	199.0	208.0					9																	138758251		692	1591	2283	SO:0001627	intron_variant	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.666+50C>A	9.37:g.138758251G>T			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	RNA	SNP	-	NULL	ENST00000389532.4	37	NULL	CCDS35176.2	9																																																																																			CAMSAP1	-	-		0.343	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	G	XM_351857		138758251	-1	no_errors	ENST00000460094	ensembl	human	known	70_37	rna	SNP	0.000	T
CCDC108	255101	genome.wustl.edu	37	2	219868903	219868903	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:219868903C>T	ENST00000341552.5	-	33	5409	c.5326G>A	c.(5326-5328)Gag>Aag	p.E1776K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1776K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1776K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1776	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttcctcctccaactcttct	0.537																																																	0													93.0	89.0	90.0					2																	219868903		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5326G>A	2.37:g.219868903C>T	ENSP00000340776:p.Glu1776Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1776K	ENST00000341552.5	37	c.5326	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517988	0.44763	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07444	3.19;3.19;3.19	4.67	3.79	0.43588	.	0.368522	0.19686	N	0.108394	T	0.06462	0.0166	L	0.40543	1.245	0.24630	N	0.993622	B	0.13594	0.008	B	0.13407	0.009	T	0.41197	-0.9522	10	0.11794	T	0.64	-6.6434	7.0885	0.25272	0.0:0.7959:0.0:0.2041	.	1776	Q6ZU64	CC108_HUMAN	K	1776	ENSP00000340776:E1776K;ENSP00000413377:E1776K;ENSP00000409117:E1776K	ENSP00000340776:E1776K	E	-	1	0	CCDC108	219577147	0.022000	0.18835	0.447000	0.26932	0.619000	0.37552	0.917000	0.28665	0.967000	0.38186	0.561000	0.74099	GAG	CCDC108	-	NULL		0.537	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868903	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.299	T
CCDC108	255101	genome.wustl.edu	37	2	219868921	219868921	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:219868921C>T	ENST00000341552.5	-	33	5391	c.5308G>A	c.(5308-5310)Gag>Aag	p.E1770K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1770K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1770K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1770	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttcttcctcttcacccttc	0.557																																																	0													100.0	96.0	97.0					2																	219868921		2202	4300	6502	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5308G>A	2.37:g.219868921C>T	ENSP00000340776:p.Glu1770Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1770K	ENST00000341552.5	37	c.5308	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217601	0.39201	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06218	3.33;3.33;3.33	4.67	2.85	0.33270	.	0.000000	0.33813	N	0.004531	T	0.05410	0.0143	L	0.40543	1.245	0.23366	N	0.997824	B	0.13594	0.008	B	0.13407	0.009	T	0.31223	-0.9951	10	0.40728	T	0.16	-2.4229	5.6777	0.17757	0.0:0.6844:0.0:0.3156	.	1770	Q6ZU64	CC108_HUMAN	K	1770	ENSP00000340776:E1770K;ENSP00000413377:E1770K;ENSP00000409117:E1770K	ENSP00000340776:E1770K	E	-	1	0	CCDC108	219577165	0.005000	0.15991	0.353000	0.25747	0.380000	0.30137	0.860000	0.27871	0.967000	0.38186	0.561000	0.74099	GAG	CCDC108	-	NULL		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868921	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.331	T
CCDC65	85478	genome.wustl.edu	37	12	49312138	49312138	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:49312138C>T	ENST00000320516.4	+	5	878	c.690C>T	c.(688-690)ctC>ctT	p.L230L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L230L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	230										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGGATGTACTCAAGAATTACA	0.438																																																	0													124.0	123.0	123.0					12																	49312138		2203	4300	6503	SO:0001819	synonymous_variant	85478				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.690C>T	12.37:g.49312138C>T			A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	NULL	p.L230	ENST00000320516.4	37	c.690	CCDS8772.1	12																																																																																			CCDC65	-	NULL		0.438	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC65	HGNC	protein_coding	OTTHUMT00000408922.1	C	NM_033124		49312138	+1	no_errors	ENST00000266984	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC88B	283234	genome.wustl.edu	37	11	64111690	64111690	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64111690G>A	ENST00000356786.5	+	14	1721	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	559						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAGGCAGAGAGTCCCCTTC	0.642																																																	0													50.0	57.0	55.0					11																	64111690		2201	4297	6498	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1677G>A	11.37:g.64111690G>A			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.E559	ENST00000356786.5	37	c.1677	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64111690	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.017	A
CCDC88B	283234	genome.wustl.edu	37	11	64112594	64112594	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64112594G>A	ENST00000356786.5	+	14	2625	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	861						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAGGAGGCTGAGAGGGAGCG	0.687																																																	0													5.0	5.0	5.0					11																	64112594		2003	4022	6025	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2581G>A	11.37:g.64112594G>A	ENSP00000349238:p.Glu861Lys		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.E861K	ENST00000356786.5	37	c.2581	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	11.85	1.763110	0.31228	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.24723	1.84	3.74	2.8	0.32819	.	.	.	.	.	T	0.38931	0.1059	L	0.56280	1.765	0.80722	D	1	D;P;D	0.63880	0.993;0.551;0.993	D;B;D	0.72625	0.978;0.184;0.978	T	0.12344	-1.0551	9	0.51188	T	0.08	.	5.7832	0.18318	0.1134:0.2027:0.6838:0.0	.	861;510;861	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	K	861	ENSP00000349238:E861K	ENSP00000349238:E861K	E	+	1	0	CCDC88B	63869170	0.523000	0.26274	0.104000	0.21259	0.049000	0.14656	1.504000	0.35726	0.863000	0.35553	-0.550000	0.04213	GAG	CCDC88B	-	NULL		0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64112594	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	0.852	A
CCDC88B	283234	genome.wustl.edu	37	11	64116887	64116887	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:64116887G>C	ENST00000356786.5	+	15	2745	c.2701G>C	c.(2701-2703)Gag>Cag	p.E901Q	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E53Q|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	901						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGGCTCTCGAGCGCCAGGA	0.637																																																	0													22.0	27.0	25.0					11																	64116887		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2701G>C	11.37:g.64116887G>C	ENSP00000349238:p.Glu901Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.E901Q	ENST00000356786.5	37	c.2701	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	14.66	2.600963	0.46423	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.51817	1.76;0.69	3.68	2.75	0.32379	.	.	.	.	.	T	0.55065	0.1897	L	0.54323	1.7	0.80722	D	1	P;D;D;P	0.76494	0.906;0.996;0.999;0.906	B;D;D;B	0.64506	0.412;0.909;0.926;0.412	T	0.54410	-0.8298	9	0.48119	T	0.1	.	6.1537	0.20326	0.1376:0.0:0.8624:0.0	.	901;37;550;901	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	Q	901;901;53	ENSP00000349238:E901Q;ENSP00000352974:E53Q	ENSP00000349238:E901Q	E	+	1	0	CCDC88B	63873463	0.988000	0.35896	0.819000	0.32651	0.298000	0.27526	3.418000	0.52721	2.031000	0.59945	0.539000	0.68188	GAG	CCDC88B	-	NULL		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64116887	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	0.939	C
CDKN2A	1029	genome.wustl.edu	37	9	21974669	21974669	+	Intron	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:21974669C>G	ENST00000304494.5	-	1	421				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(14)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCAGACCCTCTACCCACCTG	0.662		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1331	Whole gene deletion(1316)|Unknown(14)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(169)|central_nervous_system(162)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											101.0	119.0	113.0					9																	21974669		2203	4300	6503	SO:0001627	intron_variant	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+7G>C	9.37:g.21974669C>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R53T	ENST00000304494.5	37	c.158	CCDS6510.1	9																																																																																			CDKN2A	-	NULL		0.662	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	C	NM_000077		21974669	-1	no_errors	ENST00000380151	ensembl	human	known	70_37	missense	SNP	0.006	G
CECR2	27443	genome.wustl.edu	37	22	17976528	17976528	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:17976528C>T	ENST00000400573.5	+	3	256	c.249C>T	c.(247-249)ttC>ttT	p.F83F	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Silent_p.F63F|CECR2_ENST00000262608.8_Silent_p.F64F|CECR2_ENST00000400585.2_5'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	105					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGCCAGTTTCCAGGACCTGC	0.542																																																	0													84.0	88.0	87.0					22																	17976528		2017	4179	6196	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.249C>T	22.37:g.17976528C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.F83	ENST00000400573.5	37	c.249		22																																																																																			CECR2	-	NULL		0.542	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316104.5	C	NM_031413		17976528	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	silent	SNP	1.000	T
CEP152	22995	genome.wustl.edu	37	15	49074351	49074351	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:49074351C>T	ENST00000380950.2	-	11	1585	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.M373I|CEP152_ENST00000399334.3_Missense_Mutation_p.M466I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	466					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAGCCTTGTTCATGTTTGCAC	0.468																																																	0													92.0	90.0	91.0					15																	49074351		1991	4188	6179	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1398G>A	15.37:g.49074351C>T	ENSP00000370337:p.Met466Ile		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.M466I	ENST00000380950.2	37	c.1398	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343440	0.61073	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79141	-1.24;-1.24;-1.24	5.82	5.82	0.92795	.	0.167525	0.64402	D	0.000005	T	0.82231	0.4992	L	0.60455	1.87	0.44562	D	0.997521	B;D;P	0.55800	0.228;0.973;0.465	B;P;B	0.53593	0.058;0.73;0.052	T	0.77289	-0.2643	10	0.19147	T	0.46	-5.2143	19.6984	0.96043	0.0:1.0:0.0:0.0	.	373;466;466	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	466;373;466;466	ENSP00000370337:M466I;ENSP00000321000:M373I;ENSP00000382271:M466I	ENSP00000321000:M373I	M	-	3	0	CEP152	46861643	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.152000	0.71812	2.739000	0.93911	0.655000	0.94253	ATG	CEP152	-	NULL		0.468	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	C	NM_014985		49074351	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	1.000	T
CGRRF1	10668	genome.wustl.edu	37	14	54976708	54976708	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:54976708G>A	ENST00000216420.7	+	1	163	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	11					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AACGCTTTATGAATACTCGCC	0.612											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135.0	118.0	124.0					14																	54976708		2203	4300	6503	SO:0001583	missense	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.31G>A	14.37:g.54976708G>A	ENSP00000216420:p.Glu11Lys	1004	Q96BX2	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E11K	ENST00000216420.7	37	c.31	CCDS9719.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551402	0.86127	.	.	ENSG00000100532	ENST00000216420;ENST00000557317	T;T	0.33865	1.39;1.64	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	L	0.59436	1.845	0.53005	D	0.99996	D;D	0.63880	0.98;0.993	D;D	0.72625	0.956;0.978	T	0.57225	-0.7848	10	0.87932	D	0	-18.9001	16.1726	0.81828	0.0:0.0:1.0:0.0	.	11;11	B2RCX4;Q99675	.;CGRF1_HUMAN	K	11	ENSP00000216420:E11K;ENSP00000450430:E11K	ENSP00000216420:E11K	E	+	1	0	CGRRF1	54046458	1.000000	0.71417	0.976000	0.42696	0.960000	0.62799	6.351000	0.73022	2.804000	0.96469	0.650000	0.86243	GAA	CGRRF1	-	NULL		0.612	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	G	NM_006568		54976708	+1	no_errors	ENST00000216420	ensembl	human	known	70_37	missense	SNP	0.998	A
CLCN1	1180	genome.wustl.edu	37	7	143017825	143017825	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:143017825C>T	ENST00000343257.2	+	3	457	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	124					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTGGTGCTTCTGGGACTGCT	0.507																																																	0													196.0	160.0	172.0					7																	143017825		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.370C>T	7.37:g.143017825C>T			A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.L124	ENST00000343257.2	37	c.370	CCDS5881.1	7																																																																																			CLCN1	-	superfamily_Cl-channel_core		0.507	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	C	NM_000083		143017825	+1	no_errors	ENST00000343257	ensembl	human	known	70_37	silent	SNP	1.000	T
CLEC2B	9976	genome.wustl.edu	37	12	10007077	10007077	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:10007077G>A	ENST00000228438.2	-	4	1177	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CLEC2B_ENST00000538152.1_Missense_Mutation_p.L13F	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	82	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						TACCGCCTAAGAAAATTCTTT	0.378																																																	0													87.0	86.0	86.0					12																	10007077		2203	4299	6502	SO:0001583	missense	9976			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.244C>T	12.37:g.10007077G>A	ENSP00000228438:p.Leu82Phe		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L82F	ENST00000228438.2	37	c.244	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065484	0.36470	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	T;T	0.24908	1.83;1.83	2.95	1.09	0.20402	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38217	N	0.001768	T	0.44201	0.1282	M	0.79614	2.46	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17899	-1.0354	10	0.87932	D	0	.	5.1145	0.14827	0.283:0.0:0.717:0.0	.	82	Q92478	CLC2B_HUMAN	F	82;13	ENSP00000228438:L82F;ENSP00000437946:L13F	ENSP00000228438:L82F	L	-	1	0	CLEC2B	9898344	0.668000	0.27493	0.082000	0.20525	0.035000	0.12851	0.613000	0.24299	0.309000	0.22966	0.655000	0.94253	CTT	CLEC2B	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.378	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	G	NM_005127		10007077	-1	no_errors	ENST00000228438	ensembl	human	known	70_37	missense	SNP	0.101	A
CLEC2B	9976	genome.wustl.edu	37	12	10007089	10007089	+	Intron	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:10007089G>C	ENST00000228438.2	-	4	1171				CLEC2B_ENST00000538152.1_Missense_Mutation_p.L9V	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B							integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						AAATTCTTTAGAGACAAAATT	0.368																																																	0													71.0	71.0	71.0					12																	10007089		2203	4299	6502	SO:0001627	intron_variant	9976			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.238-6C>G	12.37:g.10007089G>C			B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.L9V	ENST00000228438.2	37	c.25	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.713551	0.00706	.	.	ENSG00000110852	ENST00000538152	T	0.49720	0.77	2.95	1.06	0.20224	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25398	-1.0133	5	.	.	.	.	5.4677	0.16652	0.2724:0.0:0.7276:0.0	.	.	.	.	V	9	ENSP00000437946:L9V	.	L	-	1	2	CLEC2B	9898356	0.001000	0.12720	0.443000	0.26883	0.038000	0.13279	-0.232000	0.09055	0.294000	0.22547	0.655000	0.94253	CTA	CLEC2B	-	NULL		0.368	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	G	NM_005127		10007089	-1	no_errors	ENST00000538152	ensembl	human	putative	70_37	missense	SNP	0.479	C
CNGA1	1259	genome.wustl.edu	37	4	47938939	47938939	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:47938939G>A	ENST00000514170.1	-	11	1891	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	CNGA1_ENST00000420489.2_Silent_p.L524L|CNGA1_ENST00000402813.3_Silent_p.L593L|CNGA1_ENST00000358519.4_Silent_p.L524L|CNGA1_ENST00000544810.1_Silent_p.L524L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	524					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCACCACAGCGAGTTTGCCTT	0.453																																																	0													111.0	112.0	112.0					4																	47938939		2195	4299	6494	SO:0001819	synonymous_variant	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1572C>T	4.37:g.47938939G>A			A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L593	ENST00000514170.1	37	c.1779	CCDS43226.1	4																																																																																			CNGA1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.453	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	G	NM_000087		47938939	-1	no_errors	ENST00000402813	ensembl	human	known	70_37	silent	SNP	0.052	A
COL9A3	1299	genome.wustl.edu	37	20	61457204	61457204	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:61457204G>A	ENST00000343916.3	+	13	669	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	222	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGCCTCCCGGGCAGCGTGG	0.657																																																	0													19.0	22.0	21.0					20																	61457204		2149	4241	6390	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.666G>A	20.37:g.61457204G>A			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.P222	ENST00000343916.3	37	c.666	CCDS13505.1	20																																																																																			COL9A3	-	pfam_Collagen		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	G	NM_001853		61457204	+1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	0.997	A
COMMD3	23412	genome.wustl.edu	37	10	22606984	22606984	+	Intron	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr10:22606984C>T	ENST00000376836.3	+	3	695				COMMD3_ENST00000483684.1_Intron|COMMD3-BMI1_ENST00000463409.2_Intron|COMMD3-BMI1_ENST00000602390.1_Intron	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3											kidney(2)|lung(2)|ovary(1)	5						ATTTCAATTTCAGTTTTAAAA	0.328																																																	0													27.0	31.0	30.0					10																	22606984		2189	4291	6480	SO:0001627	intron_variant	23412			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.252-50C>T	10.37:g.22606984C>T			D3DRU7|Q5T8Y9	RNA	SNP	-	NULL	ENST00000376836.3	37	NULL	CCDS7137.1	10																																																																																			COMMD3	-	-		0.328	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD3	HGNC	protein_coding	OTTHUMT00000047159.1	C	NM_012071		22606984	+1	no_errors	ENST00000470045	ensembl	human	known	70_37	rna	SNP	0.112	T
CPLX1	10815	genome.wustl.edu	37	4	780459	780459	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756																																																	0													26.0	32.0	30.0					4																	780459		2162	4273	6435	SO:0001583	missense	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.235G>A	4.37:g.780459C>T	ENSP00000305613:p.Glu79Lys		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	pfam_Synaphin	p.E79K	ENST00000304062.6	37	c.235	CCDS46995.1	4	.	.	.	.	.	.	.	.	.	.	c	29.9	5.042366	0.93685	.	.	ENSG00000168993	ENST00000304062;ENST00000505203;ENST00000504062;ENST00000513195	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	T	0.75953	0.3920	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.61080	0.989;0.989	D;D	0.71656	0.974;0.974	T	0.75596	-0.3263	8	0.33141	T	0.24	.	12.4885	0.55886	0.0:1.0:0.0:0.0	.	58;79	D6RI11;O14810	.;CPLX1_HUMAN	K	79;58;64;162	.	ENSP00000305613:E79K	E	-	1	0	CPLX1	770459	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	5.518000	0.67068	1.773000	0.52216	0.506000	0.49869	GAG	CPLX1	-	pfam_Synaphin		0.756	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX1	HGNC	protein_coding	OTTHUMT00000358830.1	C			780459	-1	no_errors	ENST00000304062	ensembl	human	known	70_37	missense	SNP	1.000	T
CPSF4	10898	genome.wustl.edu	37	7	99042428	99042428	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:99042428C>T	ENST00000292476.5	+	2	130	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CPSF4_ENST00000436336.2_Silent_p.V40V|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_5'UTR|CPSF4_ENST00000451876.1_Silent_p.V40V			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	40					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCGCTGCTGTCTGTGAATTCT	0.537																																																	0													172.0	192.0	185.0					7																	99042428		2203	4300	6503	SO:0001819	synonymous_variant	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.120C>T	7.37:g.99042428C>T			D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V40	ENST00000292476.5	37	c.120	CCDS5664.1	7																																																																																			CPSF4	-	smart_Znf_CCCH		0.537	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	C			99042428	+1	no_errors	ENST00000292476	ensembl	human	known	70_37	silent	SNP	1.000	T
DISP2	85455	genome.wustl.edu	37	15	40659612	40659612	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:40659612C>G	ENST00000267889.3	+	8	1386	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	433					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCCTTCCCTCAAGTACAGCC	0.582																																																	0													241.0	263.0	256.0					15																	40659612		2203	4300	6503	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1299C>G	15.37:g.40659612C>G			Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L433	ENST00000267889.3	37	c.1299	CCDS10056.1	15																																																																																			DISP2	-	NULL		0.582	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40659612	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.998	G
DISP2	85455	genome.wustl.edu	37	15	40660758	40660758	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:40660758C>G	ENST00000267889.3	+	8	2532	c.2445C>G	c.(2443-2445)ctC>ctG	p.L815L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	815					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCTGGCACTCTGTCACCGGG	0.667																																																	0													35.0	41.0	39.0					15																	40660758		2201	4296	6497	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2445C>G	15.37:g.40660758C>G			Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.L815	ENST00000267889.3	37	c.2445	CCDS10056.1	15																																																																																			DISP2	-	NULL		0.667	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40660758	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	silent	SNP	0.481	G
CSPG4	1464	genome.wustl.edu	37	15	75983124	75983124	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:75983124C>T	ENST00000308508.5	-	3	374	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	94	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTGCAGCCTCAGCTCCTCCT	0.552																																																	0													65.0	68.0	67.0					15																	75983124		2197	4290	6487	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.282G>A	15.37:g.75983124C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.L94	ENST00000308508.5	37	c.282	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.552	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75983124	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.365	T
DNM1L	10059	genome.wustl.edu	37	12	32866193	32866193	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:32866193C>T	ENST00000549701.1	+	6	581	c.507C>T	c.(505-507)ctC>ctT	p.L169L	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000381000.4_Silent_p.L182L|DNM1L_ENST00000358214.5_Silent_p.L182L|DNM1L_ENST00000547312.1_Silent_p.L169L|DNM1L_ENST00000553257.1_Silent_p.L182L|DNM1L_ENST00000452533.2_Silent_p.L169L|DNM1L_ENST00000266481.6_Silent_p.L169L|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	169	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGAGCTCATTCTTCGGT	0.393																																																	0													118.0	115.0	116.0					12																	32866193		2203	4300	6503	SO:0001819	synonymous_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.507C>T	12.37:g.32866193C>T			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.L182	ENST00000549701.1	37	c.546	CCDS8729.1	12																																																																																			DNM1L	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	C	NM_012062		32866193	+1	no_errors	ENST00000553257	ensembl	human	known	70_37	silent	SNP	0.993	T
DUSP10	11221	genome.wustl.edu	37	1	221912616	221912616	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:221912616C>G	ENST00000366899.3	-	2	709	c.471G>C	c.(469-471)aaG>aaC	p.K157N	DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	157					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TGGTCATCTTCTTTGCCAAGT	0.532																																																	0													103.0	95.0	98.0					1																	221912616		2203	4300	6503	SO:0001583	missense	11221			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.471G>C	1.37:g.221912616C>G	ENSP00000355866:p.Lys157Asn		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.K157N	ENST00000366899.3	37	c.471	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473332	0.43942	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.42900	0.96	5.76	5.76	0.90799	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	N	0.24115	0.695	0.80722	D	1	B	0.16166	0.016	B	0.12837	0.008	T	0.06991	-1.0796	10	0.56958	D	0.05	.	12.467	0.55764	0.0:0.9233:0.0:0.0767	.	157	Q9Y6W6	DUS10_HUMAN	N	157;102	ENSP00000355866:K157N	ENSP00000355866:K157N	K	-	3	2	DUSP10	219979239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.550000	0.36223	2.730000	0.93505	0.591000	0.81541	AAG	DUSP10	-	superfamily_Rhodanese-like_dom		0.532	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	C	NM_007207		221912616	-1	no_errors	ENST00000366899	ensembl	human	known	70_37	missense	SNP	1.000	G
EDNRB	1910	genome.wustl.edu	37	13	78475207	78475207	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:78475207C>G	ENST00000334286.5	-	4	1173	c.937G>C	c.(937-939)Gat>Cat	p.D313H	EDNRB_ENST00000377211.4_Missense_Mutation_p.D403H|EDNRB_ENST00000446573.1_Missense_Mutation_p.D313H	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	313					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTTAGGTGATCATTTAAAGCA	0.303																																																	0													90.0	95.0	93.0					13																	78475207		2203	4300	6503	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.937G>C	13.37:g.78475207C>G	ENSP00000335311:p.Asp313His		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.D313H	ENST00000334286.5	37	c.937	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011915	0.75046	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	D;D;D	0.85861	-2.04;-2.04;-2.04	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	M	0.66560	2.04	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.74348	0.981;0.916;0.983	D	0.91382	0.5128	10	0.72032	D	0.01	-4.3133	14.6323	0.68666	0.1455:0.8545:0.0:0.0	.	313;403;313	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	H	403;313;313	ENSP00000366416:D403H;ENSP00000403401:D313H;ENSP00000335311:D313H	ENSP00000335311:D313H	D	-	1	0	EDNRB	77373208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.761000	0.68801	2.699000	0.92147	0.655000	0.94253	GAT	EDNRB	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_Bombsn_rcpt		0.303	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	C			78475207	-1	no_errors	ENST00000334286	ensembl	human	known	70_37	missense	SNP	1.000	G
EFCAB12	90288	genome.wustl.edu	37	3	129127506	129127506	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:129127506C>T	ENST00000505956.1	-	6	1393	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E411K	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	411							calcium ion binding (GO:0005509)										AGGATGTCCTCTGTCAGCGGG	0.597																																																	0													31.0	31.0	31.0					3																	129127506		1989	4161	6150	SO:0001583	missense	90288			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1231G>A	3.37:g.129127506C>T	ENSP00000420854:p.Glu411Lys		Q69YX4	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E411K	ENST00000505956.1	37	c.1231	CCDS54638.1	3	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644123	0.67244	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.03496	3.91;3.91	5.34	4.46	0.54185	.	0.110186	0.40064	N	0.001197	T	0.07863	0.0197	L	0.34521	1.04	0.29182	N	0.876441	D	0.60160	0.987	P	0.60236	0.871	T	0.10359	-1.0633	10	0.33141	T	0.24	-43.6004	10.8039	0.46504	0.0:0.9113:0.0:0.0887	.	411	Q6NXP0	CC025_HUMAN	K	411	ENSP00000420854:E411K;ENSP00000324241:E411K	ENSP00000324241:E411K	E	-	1	0	C3orf25	130610196	0.420000	0.25457	0.855000	0.33649	0.808000	0.45660	0.773000	0.26661	1.248000	0.43934	0.655000	0.94253	GAG	EFCAB12	-	NULL		0.597	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	C	NM_207307		129127506	-1	no_errors	ENST00000326085	ensembl	human	known	70_37	missense	SNP	0.852	T
EMR2	30817	genome.wustl.edu	37	19	14866481	14866481	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:14866481G>A	ENST00000315576.3	-	13	1852	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	EMR2_ENST00000594294.1_Silent_p.F418F|EMR2_ENST00000346057.1_Silent_p.F418F|EMR2_ENST00000594076.1_Silent_p.F374F|EMR2_ENST00000353005.1_Silent_p.F325F|EMR2_ENST00000595839.1_Silent_p.F325F|EMR2_ENST00000596991.2_Silent_p.F456F|EMR2_ENST00000601345.1_Silent_p.F456F|EMR2_ENST00000392967.2_Silent_p.F456F|EMR2_ENST00000392965.3_Silent_p.F467F|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Silent_p.F374F	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	467					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGAGAAGGTGAAGGTAACTG	0.587																																																	0													186.0	166.0	173.0					19																	14866481		2203	4300	6503	SO:0001819	synonymous_variant	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1401C>T	19.37:g.14866481G>A			B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.F467	ENST00000315576.3	37	c.1401	CCDS32935.1	19																																																																																			EMR2	-	NULL		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14866481	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	silent	SNP	0.021	A
ENPP3	5169	genome.wustl.edu	37	6	131995358	131995358	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:131995358C>G	ENST00000414305.1	+	9	1027	c.699C>G	c.(697-699)ctC>ctG	p.L233L	ENPP3_ENST00000543135.1_Silent_p.L199L|ENPP3_ENST00000427148.2_Silent_p.L199L|ENPP3_ENST00000357639.3_Silent_p.L233L|ENPP3_ENST00000358229.5_Silent_p.L233L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	233	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTAAATCTCAACAAGAATT	0.343																																																	0													59.0	55.0	57.0					6																	131995358		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.699C>G	6.37:g.131995358C>G			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.L233	ENST00000414305.1	37	c.699	CCDS5148.1	6																																																																																			ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	C			131995358	+1	no_errors	ENST00000357639	ensembl	human	known	70_37	silent	SNP	0.974	G
Unknown	0	genome.wustl.edu	37	GL000205.1	117666	117666	+	IGR	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrGL000205.1:117666G>C								None (None upstream) : None (None downstream)																							CGCGAGTTCAGAGCGTGGAGC	0.612																																																	0																																										SO:0001628	intergenic_variant	0																															GL000205.1.37:g.117666G>C				Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_cat_dom	p.Q99H		37	c.297		GL000205.1																																																																																			AC011841.1	-	pfam_D-isomer_2_OHA_DH_cat_dom	0	0.612					ENSG00000212884	Clone_based_ensembl_gene			G			117666	+1	no_errors	ENST00000391571	ensembl	human	known	70_37	missense	SNP	NULL	C
ZNF971P	100419895	genome.wustl.edu	37	16	34682098	34682098	+	RNA	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:34682098G>C	ENST00000568619.1	-	0	381																											GTCCCAGTGTGAGTTATTTTA	0.383																																																	0																																												0																															16.37:g.34682098G>C				RNA	SNP	-	NULL	ENST00000568619.1	37	NULL		16																																																																																			RP11-80F22.10	-	-		0.383	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	Clone_based_vega_gene	pseudogene	OTTHUMT00000431371.1	G			34682098	-1	no_errors	ENST00000568619	ensembl	human	known	70_37	rna	SNP	1.000	C
C2CD2	25966	genome.wustl.edu	37	21	43315042	43315042	+	Intron	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr21:43315042G>T	ENST00000380486.3	-	13	2112				C2CD2_ENST00000329623.7_Intron	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2							cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAATGTACCGGTCTGCCCACC	0.582																																																	0																																										SO:0001627	intron_variant	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1870+4119C>A	21.37:g.43315042G>T			Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	NULL	p.T36N	ENST00000380486.3	37	c.107	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921730	0.17982	.	.	ENSG00000215494	ENST00000400449	.	.	.	2.31	1.41	0.22369	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36817	-0.9732	5	0.87932	D	0	.	5.0973	0.14740	0.1733:0.0:0.8267:0.0	.	.	.	.	N	36	.	ENSP00000383299:T36N	T	-	2	0	AP001619.1	42188111	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.155000	0.16362	0.525000	0.28522	0.555000	0.69702	ACC	AP001619.1	-	NULL		0.582	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215494	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43315042	-1	no_errors	ENST00000400449	ensembl	human	known	70_37	missense	SNP	0.000	T
LOC105372582	105372582	genome.wustl.edu	37	20	25733293	25733293	+	RNA	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:25733293C>G	ENST00000376445.3	+	0	216																											TCAAAACTTTCAAAGGAAGAG	0.393																																																	0																																												0																															20.37:g.25733293C>G				RNA	SNP	-	NULL	ENST00000376445.3	37	NULL		20																																																																																			RP13-401N8.1	-	-		0.393	RP13-401N8.1-001	KNOWN	basic|exp_conf	antisense	ENSG00000226465	Clone_based_vega_gene	antisense	OTTHUMT00000078460.1	C			25733293	+1	no_errors	ENST00000376445	ensembl	human	known	70_37	rna	SNP	1.000	G
RP11-216M21.5	0	genome.wustl.edu	37	9	42275941	42275941	+	lincRNA	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:42275941G>A	ENST00000425632.1	+	0	3																											GCTCTTGCAGGAGGTGGGCTA	0.572																																																	0																																												0																															9.37:g.42275941G>A				RNA	SNP	-	NULL	ENST00000425632.1	37	NULL		9																																																																																			RP11-216M21.5	-	-		0.572	RP11-216M21.5-001	KNOWN	basic	lincRNA	ENSG00000228136	Clone_based_vega_gene	lincRNA	OTTHUMT00000143025.1	G			42275941	+1	no_errors	ENST00000425632	ensembl	human	known	70_37	rna	SNP	1.000	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143210096	143210096	+	lincRNA	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:143210096C>G	ENST00000412204.2	-	0	974				RP11-782C8.1_ENST00000438000.1_lincRNA																							GCCTTGTATTCTCAGCTTTGA	0.373																																																	0																																												0																															1.37:g.143210096C>G				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.373	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	C			143210096	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.373	G
ACSL6	23305	genome.wustl.edu	37	5	131280423	131280423	+	IGR	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:131280423C>G	ENST00000379249.3	-	0	2148				AC034228.7_ENST00000411822.1_RNA|AC034228.4_ENST00000446275.1_RNA			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6						acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCTTTTCTCTCCTGTAACT	0.443																																																	0																																										SO:0001628	intergenic_variant	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692		5.37:g.131280423C>G			J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	RNA	SNP	-	NULL	ENST00000379249.3	37	NULL		5																																																																																			AC034228.7	-	-		0.443	ACSL6-202	KNOWN	basic	protein_coding	ENSG00000239642	Clone_based_vega_gene	protein_coding		C	NM_015256		131280423	-1	no_errors	ENST00000411822	ensembl	human	known	70_37	rna	SNP	0.747	G
MMAA	166785	genome.wustl.edu	37	4	146563766	146563766	+	Intron	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:146563766C>T	ENST00000281317.5	+	3	1772				RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_Intron	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type						cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGGGAGTTCTGCAGAGTTA	0.498																																																	0																																										SO:0001627	intron_variant	0			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.562+129C>T	4.37:g.146563766C>T			B3KX40|Q495G7	RNA	SNP	-	NULL	ENST00000281317.5	37	NULL	CCDS3766.1	4																																																																																			RP11-557J10.4	-	-		0.498	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248356	Clone_based_vega_gene	protein_coding	OTTHUMT00000364668.2	C			146563766	-1	no_errors	ENST00000504555	ensembl	human	known	70_37	rna	SNP	0.000	T
ATP6V1C1	528	genome.wustl.edu	37	8	104033553	104033553	+	Intron	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:104033553G>A	ENST00000395862.3	+	1	120				ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Intron|KB-1639H6.2_ENST00000522416.1_RNA|ATP6V1C1_ENST00000521514.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TGCGGGGGCAGAGACCGTGGC	0.652																																																	0																																										SO:0001627	intron_variant	0			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.-40+143G>A	8.37:g.104033553G>A				RNA	SNP	-	NULL	ENST00000395862.3	37	NULL	CCDS6296.1	8																																																																																			KB-1639H6.2	-	-		0.652	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254236	Clone_based_vega_gene	protein_coding	OTTHUMT00000380101.1	G	NM_001695		104033553	-1	no_errors	ENST00000522416	ensembl	human	known	70_37	rna	SNP	0.003	A
LOC642426	642426	genome.wustl.edu	37	14	19412574	19412574	+	lincRNA	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:19412574C>T	ENST00000548050.1	-	0	0				RP11-536C10.16_ENST00000550928.1_lincRNA	NR_046104.1																						TCTTTGACTTCAACCTGCTTT	0.502																																																	0																																												0																															14.37:g.19412574C>T				RNA	SNP	-	NULL	ENST00000548050.1	37	NULL		14																																																																																			RP11-536C10.16	-	-		0.502	RP11-536C10.7-001	KNOWN	basic	lincRNA	ENSG00000258364	Clone_based_vega_gene	lincRNA	OTTHUMT00000408404.1	C			19412574	+1	no_errors	ENST00000550928	ensembl	human	known	70_37	rna	SNP	0.998	T
HSD17B1	3292	genome.wustl.edu	37	17	40705076	40705076	+	Intron	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:40705076G>A	ENST00000585807.1	+	1	3817				RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Intron	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1						bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	CAGGGAGGGAGAGAAGGGAGG	0.577																																																	0													45.0	48.0	47.0					17																	40705076		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.97+28G>A	17.37:g.40705076G>A			B3KXS1|Q2M2L8	RNA	SNP	-	NULL	ENST00000585807.1	37	NULL	CCDS11428.1	17																																																																																			RP11-400F19.6	-	-		0.577	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266962	Clone_based_vega_gene	protein_coding	OTTHUMT00000450392.1	G	NM_000413		40705076	-1	no_errors	ENST00000590513	ensembl	human	known	70_37	rna	SNP	0.345	A
EPB41L3	23136	genome.wustl.edu	37	18	5630551	5630551	+	IGR	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr18:5630551C>T								SNORD112 (51067 upstream) : AP001032.1 (31392 downstream)																							TCGGGCTCGGCGGCGGGAAAG	0.662																																																	0													31.0	37.0	35.0					18																	5630551		876	1991	2867	SO:0001628	intergenic_variant	23136																															18.37:g.5630551C>T				RNA	SNP	-	NULL		37	NULL		18																																																																																			EPB41L3	-	-	0	0.662					EPB41L3	HGNC			C			5630551	-1	no_errors	ENST00000578431	ensembl	human	known	70_37	rna	SNP	0.904	T
EVI5	7813	genome.wustl.edu	37	1	92979238	92979238	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:92979238C>G	ENST00000370331.1	-	18	2417	c.2408G>C	c.(2407-2409)aGa>aCa	p.R803T	EVI5_ENST00000540033.1_Missense_Mutation_p.R803T|EVI5_ENST00000543509.1_Missense_Mutation_p.R814T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	803	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATACGACTCTCTTCTTCTCGG	0.463																																																	0													153.0	154.0	154.0					1																	92979238		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2408G>C	1.37:g.92979238C>G	ENSP00000359356:p.Arg803Thr		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R814T	ENST00000370331.1	37	c.2441	CCDS30774.1	1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957774	0.53400	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05258	3.47;3.47;3.47	5.72	1.46	0.22682	.	0.360083	0.26010	N	0.026888	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.17098	0.017;0.007	T	0.46148	-0.9212	10	0.48119	T	0.1	-2.2098	4.3278	0.11048	0.1797:0.4792:0.0:0.3411	.	814;803	F5H4R0;O60447	.;EVI5_HUMAN	T	803;803;814	ENSP00000359356:R803T;ENSP00000440826:R803T;ENSP00000445019:R814T	ENSP00000359356:R803T	R	-	2	0	EVI5	92751826	0.003000	0.15002	0.016000	0.15963	0.835000	0.47333	0.021000	0.13489	0.258000	0.21686	-0.143000	0.13931	AGA	EVI5	-	NULL		0.463	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	C	NM_005665		92979238	-1	no_errors	ENST00000543509	ensembl	human	known	70_37	missense	SNP	0.032	G
ETV3L	440695	genome.wustl.edu	37	1	157062807	157062807	+	Silent	SNP	C	C	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:157062807C>A	ENST00000454449.2	-	5	1004	c.720G>T	c.(718-720)ctG>ctT	p.L240L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	240	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGTTGGAGGGCAGAGGGGGCG	0.667																																																	0													11.0	14.0	13.0					1																	157062807		2192	4288	6480	SO:0001819	synonymous_variant	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.720G>T	1.37:g.157062807C>A				Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L240	ENST00000454449.2	37	c.720	CCDS30893.1	1																																																																																			ETV3L	-	NULL		0.667	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2	C	NM_001004341		157062807	-1	no_errors	ENST00000454449	ensembl	human	known	70_37	silent	SNP	0.001	A
FAM138B	654412	genome.wustl.edu	37	2	114336277	114336277	+	lincRNA	SNP	C	C	A	rs148851148		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:114336277C>A	ENST00000432583.2	+	0	1080									family with sequence similarity 138, member B																		tccgcctgctcttcccacttc	0.557																																																	0																																												654412					2q13	2013-01-30			ENSG00000226516	ENSG00000226516		"""Long non-coding RNAs"""	33582	non-coding RNA	RNA, long non-coding						11779631, 15233989	Standard	NR_026821		Approved	F379	uc002tjz.3		OTTHUMG00000047820		2.37:g.114336277C>A				RNA	SNP	-	NULL	ENST00000432583.2	37	NULL		2																																																																																			FAM138B	-	-		0.557	FAM138B-002	KNOWN	basic	lincRNA	FAM138B	HGNC	lincRNA	OTTHUMT00000109027.3	C	NR_026821		114336277	+1	no_errors	ENST00000432583	ensembl	human	known	70_37	rna	SNP	0.004	A
GAREM	64762	genome.wustl.edu	37	18	29867486	29867486	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr18:29867486C>T	ENST00000269209.6	-	4	1077	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Silent_p.K358K|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	358					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										ACCGACCCTTCTTGGGGCTCT	0.552																																																	0													84.0	89.0	87.0					18																	29867486		2203	4300	6503	SO:0001819	synonymous_variant	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1074G>A	18.37:g.29867486C>T			Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	superfamily_SAM/pointed	p.K358	ENST00000269209.6	37	c.1074	CCDS56057.1	18																																																																																			FAM59A	-	NULL		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	C	NM_022751		29867486	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	silent	SNP	0.988	T
FAM71E2	284418	genome.wustl.edu	37	19	55869633	55869633	+	Missense_Mutation	SNP	G	G	A	rs371616074		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55869633G>A	ENST00000424985.3	-	9	2796	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I	CTD-2105E13.6_ENST00000591954.3_Silent_p.L418L	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	868										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						CGACCCCACAGTGGCCAGGGG	0.587																																																	0													44.0	42.0	43.0					19																	55869633		692	1591	2283	SO:0001583	missense	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2603C>T	19.37:g.55869633G>A	ENSP00000398617:p.Thr868Ile		Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.T868I	ENST00000424985.3	37	c.2603		19	.	.	.	.	.	.	.	.	.	.	g	15.79	2.936105	0.52972	.	.	ENSG00000180043	ENST00000424985	T	0.11712	2.75	2.74	-5.48	0.02592	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	T	0.41016	-0.9532	9	0.14252	T	0.57	.	0.5827	0.00714	0.4067:0.1313:0.1982:0.2637	.	868	Q8N5Q1	F71E2_HUMAN	I	868	ENSP00000398617:T868I	ENSP00000398617:T868I	T	-	2	0	FAM71E2	60561445	0.000000	0.05858	0.000000	0.03702	0.696000	0.40369	-1.872000	0.01639	-2.114000	0.00832	0.306000	0.20318	ACT	FAM71E2	-	NULL		0.587	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	G	NM_001145402		55869633	-1	no_errors	ENST00000424985	ensembl	human	novel	70_37	missense	SNP	0.000	A
FAM71E2	284418	genome.wustl.edu	37	19	55870057	55870057	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55870057G>A	ENST00000424985.3	-	9	2372	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	CTD-2105E13.6_ENST00000591954.3_Silent_p.L276L	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	727										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GACGCCTGCGGAGTCGCCAAG	0.622																																																	0													43.0	51.0	49.0					19																	55870057		692	1591	2283	SO:0001583	missense	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2179C>T	19.37:g.55870057G>A	ENSP00000398617:p.Pro727Ser		Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.P727S	ENST00000424985.3	37	c.2179		19	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.149172	0.00328	.	.	ENSG00000180043	ENST00000424985	T	0.11604	2.76	3.55	-7.1	0.01547	.	.	.	.	.	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	9	0.07030	T	0.85	.	0.9311	0.01335	0.2496:0.2863:0.2726:0.1915	.	727	Q8N5Q1	F71E2_HUMAN	S	727	ENSP00000398617:P727S	ENSP00000398617:P727S	P	-	1	0	FAM71E2	60561869	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.388000	0.02533	-3.787000	0.00107	-0.567000	0.04161	CCG	FAM71E2	-	NULL		0.622	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	G	NM_001145402		55870057	-1	no_errors	ENST00000424985	ensembl	human	novel	70_37	missense	SNP	0.000	A
FAM9A	171482	genome.wustl.edu	37	X	8764329	8764329	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:8764329C>G	ENST00000543214.1	-	6	603	c.468G>C	c.(466-468)ttG>ttC	p.L156F	FAM9A_ENST00000381003.3_Missense_Mutation_p.L156F	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	156						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GTTTTTTTTTCAAAGCACGTT	0.294																																																	0													141.0	110.0	121.0					X																	8764329		2202	4297	6499	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.468G>C	X.37:g.8764329C>G	ENSP00000440163:p.Leu156Phe		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.L156F	ENST00000543214.1	37	c.468	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223726	0.09863	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.678	0.678	0.17969	.	.	.	.	.	T	0.47544	0.1451	L	0.47190	1.495	0.09310	N	1	D	0.65815	0.995	P	0.59889	0.865	T	0.31336	-0.9947	7	0.36615	T	0.2	.	.	.	.	.	156	Q8IZU1	FAM9A_HUMAN	F	156	.	ENSP00000370391:L156F	L	-	3	2	FAM9A	8724329	0.999000	0.42202	0.004000	0.12327	0.009000	0.06853	1.205000	0.32308	0.609000	0.30018	0.458000	0.33432	TTG	FAM9A	-	NULL		0.294	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	C	NM_174951		8764329	-1	no_errors	ENST00000381003	ensembl	human	known	70_37	missense	SNP	0.004	G
FAT3	120114	genome.wustl.edu	37	11	92573854	92573854	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:92573854C>T	ENST00000298047.6	+	17	10512	c.10495C>T	c.(10495-10497)Cct>Tct	p.P3499S	FAT3_ENST00000525166.1_Missense_Mutation_p.P3349S|FAT3_ENST00000409404.2_Missense_Mutation_p.P3499S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3499	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGTTGGACCCTCATGGGAT	0.522										TCGA Ovarian(4;0.039)																																							0													113.0	116.0	115.0					11																	92573854		1989	4159	6148	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10495C>T	11.37:g.92573854C>T	ENSP00000298047:p.Pro3499Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3499S	ENST00000298047.6	37	c.10495		11	.	.	.	.	.	.	.	.	.	.	C	1.962	-0.438731	0.04636	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53423	0.62;0.62;0.62	5.35	-2.48	0.06423	.	.	.	.	.	T	0.21427	0.0516	N	0.11651	0.15	0.25218	N	0.989928	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	9	0.08179	T	0.78	.	7.9998	0.30291	0.0:0.5025:0.1018:0.3956	.	3499	Q8TDW7-3	.	S	3499;3499;3349	ENSP00000298047:P3499S;ENSP00000387040:P3499S;ENSP00000432586:P3349S	ENSP00000298047:P3499S	P	+	1	0	FAT3	92213502	0.008000	0.16893	0.090000	0.20809	0.166000	0.22503	0.986000	0.29590	-0.890000	0.03945	-1.945000	0.00491	CCT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92573854	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.020	T
FUZ	80199	genome.wustl.edu	37	19	50314640	50314640	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:50314640G>A	ENST00000313777.4	-	5	635	c.472C>T	c.(472-474)Cca>Tca	p.P158S	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.P108S|FUZ_ENST00000445575.2_Missense_Mutation_p.P158S|FUZ_ENST00000528094.1_Missense_Mutation_p.P122S|FUZ_ENST00000526575.1_Intron|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	158					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GACCCCTCTGGAGGAATCACG	0.562																																																	0													62.0	49.0	54.0					19																	50314640		2203	4299	6502	SO:0001583	missense	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.472C>T	19.37:g.50314640G>A	ENSP00000313309:p.Pro158Ser		B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	NULL	p.P158S	ENST00000313777.4	37	c.472	CCDS12781.1	19	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669373	0.47677	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.35	3.25	0.37280	.	0.135997	0.49916	D	0.000139	T	0.21962	0.0529	L	0.31664	0.95	0.35225	D	0.776356	D;B;P	0.59357	0.985;0.42;0.532	P;B;B	0.52066	0.689;0.219;0.284	T	0.14952	-1.0454	10	0.33940	T	0.23	-20.6847	11.6676	0.51383	0.0:0.1781:0.8219:0.0	.	158;122;158	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	S	122;108;158;158;58;158;108;158	ENSP00000435177:P122S;ENSP00000431731:P108S;ENSP00000313309:P158S;ENSP00000408018:P158S	ENSP00000313309:P158S	P	-	1	0	FUZ	55006452	0.998000	0.40836	1.000000	0.80357	0.751000	0.42716	0.745000	0.26259	2.253000	0.74438	0.462000	0.41574	CCA	FUZ	-	NULL		0.562	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1	G	NM_025129		50314640	-1	no_errors	ENST00000313777	ensembl	human	known	70_37	missense	SNP	1.000	A
FXYD5	53827	genome.wustl.edu	37	19	35655056	35655056	+	Intron	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:35655056C>T	ENST00000342879.3	+	5	1070				FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000543307.1_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000392217.3_Missense_Mutation_p.S26L			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5						microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCACTCTCTCAGCTCATCCC	0.547																																																	0													130.0	109.0	116.0					19																	35655056		2203	4300	6503	SO:0001627	intron_variant	53827			AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.293-3C>T	19.37:g.35655056C>T			B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	pfam_Ion-transport_regulator_FXYD	p.S26L	ENST00000342879.3	37	c.77	CCDS12447.1	19	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170383	0.38315	.	.	ENSG00000089327	ENST00000392217	T	0.57436	0.4	3.64	3.64	0.41730	.	.	.	.	.	T	0.64649	0.2617	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.51849	-0.8653	8	0.39692	T	0.17	.	11.1064	0.48205	0.0:1.0:0.0:0.0	.	26	Q96DB9-2	.	L	26	ENSP00000376051:S26L	ENSP00000376051:S26L	S	+	2	0	FXYD5	40346896	0.004000	0.15560	0.037000	0.18230	0.080000	0.17528	0.656000	0.24948	2.353000	0.79882	0.491000	0.48974	TCA	FXYD5	-	NULL		0.547	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXYD5	HGNC	protein_coding	OTTHUMT00000109443.1	C	NM_014164		35655056	+1	no_errors	ENST00000392217	ensembl	human	known	70_37	missense	SNP	0.038	T
GMFG	9535	genome.wustl.edu	37	19	39820225	39820225	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:39820225C>T	ENST00000597595.1	-	5	450	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	GMFG_ENST00000595636.1_Intron|GMFG_ENST00000602185.1_Missense_Mutation_p.R32Q|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000253054.8_Missense_Mutation_p.R48Q|GMFG_ENST00000601387.1_Missense_Mutation_p.R40Q|GMFG_ENST00000600322.1_Missense_Mutation_p.R48Q|GMFG_ENST00000598034.1_Missense_Mutation_p.R81Q	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	81	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTAGGACACTCGGCCATCGTC	0.517																																																	0													212.0	143.0	166.0					19																	39820225		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.242G>A	19.37:g.39820225C>T	ENSP00000472249:p.Arg81Gln		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.R81Q	ENST00000597595.1	37	c.242	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.314696	0.95655	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.16	4.16	0.48862	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.50627	D	0.000106	D	0.84257	0.5432	M	0.92268	3.29	0.53005	D	0.999964	D;D	0.67145	0.993;0.996	P;D	0.70716	0.893;0.97	D	0.86929	0.2072	9	0.46703	T	0.11	-11.5539	14.3378	0.66603	0.0:1.0:0.0:0.0	.	81;81	O60234;Q6IB37	GMFG_HUMAN;.	Q	81	.	ENSP00000253054:R81Q	R	-	2	0	GMFG	44512065	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.966000	0.76073	2.297000	0.77311	0.561000	0.74099	CGA	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.517	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	C			39820225	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	T
FUZ	80199	genome.wustl.edu	37	19	50314710	50314710	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:50314710G>A	ENST00000313777.4	-	5	565	c.402C>T	c.(400-402)ctC>ctT	p.L134L	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Silent_p.L84L|FUZ_ENST00000445575.2_Silent_p.L134L|FUZ_ENST00000528094.1_Silent_p.L98L|FUZ_ENST00000526575.1_3'UTR|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	134					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGCTGTCGATGAGGCAATAAC	0.607																																																	0													66.0	60.0	62.0					19																	50314710		2203	4300	6503	SO:0001819	synonymous_variant	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.402C>T	19.37:g.50314710G>A			B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	NULL	p.L134	ENST00000313777.4	37	c.402	CCDS12781.1	19																																																																																			FUZ	-	NULL		0.607	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1	G	NM_025129		50314710	-1	no_errors	ENST00000313777	ensembl	human	known	70_37	silent	SNP	0.992	A
GNA12	2768	genome.wustl.edu	37	7	2802452	2802452	+	Intron	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:2802452C>T	ENST00000275364.3	-	3	688				AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.G24E|GNA12_ENST00000407904.3_Intron|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000396960.3_5'UTR	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGCCTCCCATCCGCCACACAC	0.682																																																	0													4.0	3.0	3.0					7																	2802452		791	1849	2640	SO:0001627	intron_variant	2768			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.526-29317G>A	7.37:g.2802452C>T			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	p.G24E	ENST00000275364.3	37	c.71	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	C	6.408	0.443394	0.12164	.	.	ENSG00000146535	ENST00000407653	D	0.88818	-2.43	2.93	-0.221	0.13126	.	.	.	.	.	D	0.85986	0.5825	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.77387	-0.2607	6	0.72032	D	0.01	.	5.346	0.16010	0.0:0.5572:0.0:0.4428	.	.	.	.	E	24	ENSP00000386054:G24E	ENSP00000386054:G24E	G	-	2	0	GNA12	2768978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.469000	0.06648	0.048000	0.15891	0.585000	0.79938	GGA	GNA12	-	NULL		0.682	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	C	NM_007353		2802452	-1	no_errors	ENST00000407653	ensembl	human	putative	70_37	missense	SNP	0.000	T
GPR179	440435	genome.wustl.edu	37	17	36486800	36486800	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:36486800C>G	ENST00000342292.4	-	11	2672	c.2652G>C	c.(2650-2652)cgG>cgC	p.R884R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	884					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGATGGCCTCCGCACCAGGC	0.672																																																	0													14.0	16.0	15.0					17																	36486800		2061	4207	6268	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2652G>C	17.37:g.36486800C>G				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R884	ENST00000342292.4	37	c.2652	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.672	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36486800	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.779	G
GPR25	2848	genome.wustl.edu	37	1	200843211	200843211	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:200843211G>A	ENST00000304244.2	+	1	1129	c.1046G>A	c.(1045-1047)tGc>tAc	p.C349Y		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTGTTCCGTTGCCGGGCCCAG	0.746																																																	0													10.0	9.0	10.0					1																	200843211		2158	4226	6384	SO:0001583	missense	2848			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.1046G>A	1.37:g.200843211G>A	ENSP00000301917:p.Cys349Tyr		A0AVJ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.C349Y	ENST00000304244.2	37	c.1046	CCDS1405.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645723	0.29246	.	.	ENSG00000170128	ENST00000304244	T	0.67345	-0.26	3.82	2.9	0.33743	.	1.113020	0.07236	U	0.863382	T	0.45377	0.1339	N	0.08118	0	0.09310	N	0.999997	B	0.28900	0.227	B	0.23018	0.043	T	0.36866	-0.9730	10	0.52906	T	0.07	.	7.4928	0.27471	0.1255:0.0:0.8745:0.0	.	349	O00155	GPR25_HUMAN	Y	349	ENSP00000301917:C349Y	ENSP00000301917:C349Y	C	+	2	0	GPR25	199109834	.	.	0.183000	0.23137	0.118000	0.20060	.	.	0.715000	0.32103	0.462000	0.41574	TGC	GPR25	-	NULL		0.746	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR25	HGNC	protein_coding	OTTHUMT00000087056.1	G	NM_005298		200843211	+1	no_errors	ENST00000304244	ensembl	human	known	70_37	missense	SNP	0.319	A
GUCY2D	3000	genome.wustl.edu	37	17	7919320	7919320	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:7919320G>C	ENST00000254854.4	+	17	3269	c.3119G>C	c.(3118-3120)cGa>cCa	p.R1040P		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1040					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GTGGAGCTGCGAGGCCGCACG	0.697																																																	0													29.0	26.0	27.0					17																	7919320		2200	4295	6495	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3119G>C	17.37:g.7919320G>C	ENSP00000254854:p.Arg1040Pro		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.R1040P	ENST00000254854.4	37	c.3119	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904796	0.72868	.	.	ENSG00000132518	ENST00000254854	D	0.85861	-2.04	4.22	4.22	0.49857	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.39985	N	0.001215	D	0.94145	0.8122	H	0.95679	3.705	0.45567	D	0.99851	D	0.65815	0.995	D	0.66602	0.945	D	0.95869	0.8889	10	0.87932	D	0	.	15.8648	0.79057	0.0:0.0:1.0:0.0	.	1040	Q02846	GUC2D_HUMAN	P	1040	ENSP00000254854:R1040P	ENSP00000254854:R1040P	R	+	2	0	GUCY2D	7860045	1.000000	0.71417	0.972000	0.41901	0.628000	0.37860	9.533000	0.98059	2.346000	0.79739	0.313000	0.20887	CGA	GUCY2D	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.697	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	G			7919320	+1	no_errors	ENST00000254854	ensembl	human	known	70_37	missense	SNP	0.945	C
HDAC4	9759	genome.wustl.edu	37	2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77.0	85.0	82.0					2																	240016733		2203	4300	6503	SO:0001583	missense	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	G	NM_006037		240016733	-1	no_errors	ENST00000345617	ensembl	human	known	70_37	missense	SNP	0.191	T
HS3ST3A1	9955	genome.wustl.edu	37	17	13503859	13503859	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:13503859G>A	ENST00000284110.1	-	1	1385	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTACCAGGCGAGGCCCTTGT	0.736																																																	0													8.0	9.0	8.0					17																	13503859		2113	4158	6271	SO:0001819	synonymous_variant	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.588C>T	17.37:g.13503859G>A			A8K7N2	Silent	SNP	pfam_Sulfotransferase_dom	p.L196	ENST00000284110.1	37	c.588	CCDS11165.1	17																																																																																			HS3ST3A1	-	pfam_Sulfotransferase_dom		0.736	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	G	NM_006042		13503859	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	silent	SNP	1.000	A
HSP90B1	7184	genome.wustl.edu	37	12	104324296	104324296	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:104324296G>A	ENST00000299767.5	+	1	185	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-642P15.1_ENST00000548897.1_RNA|MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	1					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.M1I(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGCACGCCATGAGGGCCCTGT	0.687																																																	1	Substitution - Missense(1)	lung(1)											31.0	28.0	29.0					12																	104324296		2201	4299	6500	SO:0001582	initiator_codon_variant	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.3G>A	12.37:g.104324296G>A	ENSP00000299767:p.Met1Ile		Q96A97	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.M1I	ENST00000299767.5	37	c.3	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269924	0.80469	.	.	ENSG00000166598	ENST00000299767;ENST00000421266;ENST00000537375	T	0.16743	2.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	.	.	.	0.80722	D	1	P;P	0.45126	0.851;0.525	P;P	0.58391	0.838;0.48	T	0.19095	-1.0316	9	0.87932	D	0	.	19.3294	0.94280	0.0:0.0:1.0:0.0	.	27;1	Q59FC6;P14625	.;ENPL_HUMAN	I	1	ENSP00000299767:M1I	ENSP00000299767:M1I	M	+	3	0	HSP90B1	102848426	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.225000	0.89784	2.804000	0.96469	0.462000	0.41574	ATG	HSP90B1	-	NULL		0.687	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	G	NM_003299	Missense_Mutation	104324296	+1	no_errors	ENST00000299767	ensembl	human	known	70_37	missense	SNP	1.000	A
IL4R	3566	genome.wustl.edu	37	16	27374111	27374111	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:27374111G>T	ENST00000395762.2	+	11	1697	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y	IL4R_ENST00000170630.2_Missense_Mutation_p.D480Y|IL4R_ENST00000380922.3_Missense_Mutation_p.D465Y|IL4R_ENST00000543915.2_Missense_Mutation_p.D480Y	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	480	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAGAGTCCAGACAACCTGAC	0.632																																																	0													82.0	84.0	83.0					16																	27374111		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1438G>T	16.37:g.27374111G>T	ENSP00000379111:p.Asp480Tyr		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D480Y	ENST00000395762.2	37	c.1438	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953320	0.34471	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10005	2.93;2.93;2.92;2.93	4.03	-4.88	0.03113	.	7.429810	0.00424	N	0.000067	T	0.07369	0.0186	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51653	0.947;0.913;0.913	P;B;B	0.44561	0.453;0.254;0.254	T	0.19844	-1.0293	10	0.56958	D	0.05	-4.1181	0.3886	0.00406	0.278:0.1417:0.2952:0.2851	.	465;480;480	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	Y	480;480;465;480	ENSP00000379111:D480Y;ENSP00000441667:D480Y;ENSP00000370309:D465Y;ENSP00000170630:D480Y	ENSP00000170630:D480Y	D	+	1	0	IL4R	27281612	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.217000	0.02979	-0.917000	0.03813	-0.500000	0.04577	GAC	IL4R	-	NULL		0.632	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27374111	+1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.000	T
ITGA8	8516	genome.wustl.edu	37	10	15590516	15590516	+	Missense_Mutation	SNP	C	C	G	rs369955410		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr10:15590516C>G	ENST00000378076.3	-	27	3171	c.2818G>C	c.(2818-2820)Gaa>Caa	p.E940Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	940					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.E940Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTCCTCCTTCGAGTCGTCCC	0.468																																																	1	Substitution - Missense(1)	prostate(1)											181.0	148.0	159.0					10																	15590516		2203	4300	6503	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2818G>C	10.37:g.15590516C>G	ENSP00000367316:p.Glu940Gln		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E940Q	ENST00000378076.3	37	c.2818	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198370	0.58126	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50548	0.74	5.71	5.71	0.89125	.	0.396406	0.32430	N	0.006103	T	0.48995	0.1531	L	0.43152	1.355	0.22305	N	0.999219	P;P	0.40834	0.73;0.61	P;B	0.45474	0.482;0.289	T	0.45145	-0.9281	10	0.36615	T	0.2	.	16.7697	0.85534	0.0:1.0:0.0:0.0	.	925;940	F5H818;P53708	.;ITA8_HUMAN	Q	940;925	ENSP00000367316:E940Q	ENSP00000367316:E940Q	E	-	1	0	ITGA8	15630522	0.997000	0.39634	0.082000	0.20525	0.692000	0.40212	4.883000	0.63128	2.707000	0.92482	0.637000	0.83480	GAA	ITGA8	-	NULL		0.468	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638		15590516	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	missense	SNP	0.726	G
KIDINS220	57498	genome.wustl.edu	37	2	8874824	8874824	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:8874824C>T	ENST00000256707.3	-	28	3958	c.3777G>A	c.(3775-3777)atG>atA	p.M1259I	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1160I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1240I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1240I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1259					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTCATATTCATCTCTTTCT	0.308																																																	0													101.0	95.0	97.0					2																	8874824		1853	4090	5943	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3777G>A	2.37:g.8874824C>T	ENSP00000256707:p.Met1259Ile		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1259I	ENST00000256707.3	37	c.3777	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.270515	0.95429	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.96	5.96	0.96718	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.74258	2.255	0.80722	D	1	P;P;D;D;D	0.57257	0.936;0.613;0.979;0.964;0.976	P;B;D;D;D	0.75484	0.885;0.358;0.986;0.968;0.919	T	0.68062	-0.5508	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	1203;1203;1160;1259;113	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;.;KDIS_HUMAN;.	I	949;886;1259;1240;1160;1240;1203	ENSP00000420364:M949I;ENSP00000256707:M1259I;ENSP00000411849:M1240I;ENSP00000414923:M1160I;ENSP00000418974:M1240I;ENSP00000419964:M1203I	ENSP00000256707:M1259I	M	-	3	0	KIDINS220	8792275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.433000	0.80362	2.832000	0.97577	0.655000	0.94253	ATG	KIDINS220	-	superfamily_SAM/pointed		0.308	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8874824	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF12	113220	genome.wustl.edu	37	9	116859689	116859689	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:116859689G>A	ENST00000374118.3	-	4	361	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	175	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGGGGCCGGGGAGACCCCAGG	0.602																																																	0													24.0	29.0	27.0					9																	116859689		2203	4299	6502	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.124C>T	9.37:g.116859689G>A	ENSP00000363232:p.Pro42Ser		Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P175S	ENST00000374118.3	37	c.523	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196623	0.58126	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.71461	-0.57	5.26	3.42	0.39159	Kinesin, motor domain (4);	0.284342	0.30704	N	0.009045	T	0.47377	0.1442	N	0.11154	0.105	0.32245	N	0.572156	B	0.16603	0.018	B	0.26517	0.07	T	0.45220	-0.9276	10	0.16420	T	0.52	.	7.2805	0.26308	0.0917:0.1707:0.7377:0.0	.	175	Q96FN5	KIF12_HUMAN	S	42;175	ENSP00000363232:P42S	ENSP00000259410:P175S	P	-	1	0	KIF12	115899510	0.993000	0.37304	0.999000	0.59377	0.938000	0.57974	1.770000	0.38532	0.578000	0.29487	0.555000	0.69702	CCC	KIF12	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.602	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116859689	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	0.981	A
KIF3B	9371	genome.wustl.edu	37	20	30898424	30898424	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:30898424C>G	ENST00000375712.3	+	2	1011	c.844C>G	c.(844-846)Cta>Gta	p.L282V	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCTCTGCTCTAGTGGACGG	0.522																																																	0													92.0	85.0	88.0					20																	30898424		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.844C>G	20.37:g.30898424C>G	ENSP00000364864:p.Leu282Val		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L282V	ENST00000375712.3	37	c.844	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368758	0.42003	.	.	ENSG00000101350	ENST00000375712	D	0.85556	-2.0	4.52	1.47	0.22746	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000001	D	0.94225	0.8146	H	0.97829	4.085	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.91635	0.982;0.999	D	0.93367	0.6732	10	0.87932	D	0	.	9.5782	0.39470	0.0:0.7668:0.0:0.2332	.	282;282	B4DYF2;O15066	.;KIF3B_HUMAN	V	282	ENSP00000364864:L282V	ENSP00000364864:L282V	L	+	1	2	KIF3B	30362085	0.998000	0.40836	0.999000	0.59377	0.764000	0.43329	2.096000	0.41738	0.529000	0.28599	0.462000	0.41574	CTA	KIF3B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30898424	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	G
KIR3DL1	3811	genome.wustl.edu	37	19	55329005	55329005	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55329005G>A	ENST00000391728.4	+	2	84	c.51G>A	c.(49-51)caG>caA	p.Q17Q	KIR3DL1_ENST00000402254.2_Silent_p.Q17Q|KIR3DL1_ENST00000538269.1_Silent_p.Q17Q|KIR3DL1_ENST00000358178.4_Silent_p.Q17Q|KIR3DL1_ENST00000541392.1_Silent_p.Q17Q|KIR3DL1_ENST00000326542.7_Silent_p.Q17Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	17					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGGTCCAGAGGGCCGGTC	0.567																																																	0													26.0	42.0	37.0					19																	55329005		2120	4064	6184	SO:0001819	synonymous_variant	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.51G>A	19.37:g.55329005G>A			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.Q17	ENST00000391728.4	37	c.51	CCDS42621.1	19																																																																																			KIR3DL1	-	NULL		0.567	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	G	NM_013289		55329005	+1	no_errors	ENST00000402254	ensembl	human	known	70_37	silent	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000209.1	71157	71157	+	IGR	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrGL000209.1:71157G>A								None (None upstream) : None (None downstream)																							TCTTGGTCCAGAGGGCCGGTC	0.557																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.71157G>A				Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.Q17		37	c.51		GL000209.1																																																																																			KIR3DS1	-	NULL	0	0.557					KIR3DS1	HGNC			G			71157	+1	no_errors	ENST00000400847	ensembl	human	known	70_37	silent	SNP	NULL	A
LAIR2	3904	genome.wustl.edu	37	19	55019207	55019207	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:55019207T>C	ENST00000301202.2	+	3	294	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	LAIR2_ENST00000351841.2_Missense_Mutation_p.F58L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	58	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GGTTCAAACATTCCGCCTGGA	0.552																																																	0													98.0	98.0	98.0					19																	55019207		2203	4300	6503	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.172T>C	19.37:g.55019207T>C	ENSP00000301202:p.Phe58Leu		Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.F58L	ENST00000301202.2	37	c.172	CCDS12897.1	19	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744159	0.49151	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.23348	1.91;2.74;2.74	3.51	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.331162	0.22040	N	0.065468	T	0.50051	0.1593	M	0.91717	3.235	0.09310	N	1	D;D;D	0.71674	0.997;0.99;0.998	P;D;D	0.72982	0.904;0.979;0.953	T	0.40646	-0.9552	10	0.87932	D	0	.	3.8782	0.09066	0.2152:0.0:0.2228:0.562	.	52;58;58	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	L	52;40;58;58	ENSP00000390729:F52L;ENSP00000301202:F58L;ENSP00000301203:F58L	ENSP00000301202:F58L	F	+	1	0	LAIR2	59711019	0.115000	0.22152	0.007000	0.13788	0.020000	0.10135	2.685000	0.46959	0.047000	0.15862	-0.695000	0.03696	TTC	LAIR2	-	smart_Ig_sub		0.552	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1	T			55019207	+1	no_errors	ENST00000301202	ensembl	human	known	70_37	missense	SNP	0.002	C
LAMTOR2	28956	genome.wustl.edu	37	1	156028174	156028174	+	3'UTR	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:156028174G>T	ENST00000368305.4	+	0	528				LAMTOR2_ENST00000368302.3_Nonsense_Mutation_p.E143*|RAB25_ENST00000361084.5_5'Flank|LAMTOR2_ENST00000368304.5_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2						activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GGCATTGGTGGAAGCTGGGGT	0.557																																																	0													71.0	71.0	71.0					1																	156028174		2203	4300	6503	SO:0001624	3_prime_UTR_variant	28956			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.*12G>T	1.37:g.156028174G>T			Q5VY97|Q5VY98|Q5VY99	Nonsense_Mutation	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.E143*	ENST00000368305.4	37	c.427	CCDS1128.1	1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.397063	0.25205	.	.	ENSG00000116586	ENST00000368302	.	.	.	5.05	3.04	0.35103	.	2.373340	0.03078	U	0.158092	.	.	.	.	.	.	0.22541	N	0.999002	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0163	8.5874	0.33666	0.1979:0.0:0.8021:0.0	.	.	.	.	X	143	.	ENSP00000357285:E143X	E	+	1	0	LAMTOR2	154294798	0.534000	0.26362	0.036000	0.18154	0.006000	0.05464	1.529000	0.35996	1.270000	0.44297	-0.345000	0.07892	GAA	LAMTOR2	-	NULL		0.557	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR2	HGNC	protein_coding	OTTHUMT00000046197.1	G	NM_014017		156028174	+1	no_errors	ENST00000368302	ensembl	human	known	70_37	nonsense	SNP	0.021	T
LAP3	51056	genome.wustl.edu	37	4	17585203	17585203	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:17585203C>T	ENST00000226299.4	+	5	751	c.477C>T	c.(475-477)ctC>ctT	p.L159L	LAP3_ENST00000606142.1_Silent_p.L128L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	159					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGCTTGGTCTCTATGAATACG	0.547																																																	0													103.0	106.0	105.0					4																	17585203		2203	4300	6503	SO:0001819	synonymous_variant	51056			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.477C>T	4.37:g.17585203C>T			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.L159	ENST00000226299.4	37	c.477	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_N		0.547	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	C			17585203	+1	no_errors	ENST00000226299	ensembl	human	known	70_37	silent	SNP	1.000	T
LBH	81606	genome.wustl.edu	37	2	30457343	30457343	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:30457343C>T	ENST00000395323.3	+	2	307	c.99C>T	c.(97-99)ctC>ctT	p.L33L	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Silent_p.L33L|LBH_ENST00000406087.1_Silent_p.L33L|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000401506.1_Silent_p.L39L	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	33					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGATCGGCCTCAGCCCCCGCA	0.557																																																	0													120.0	100.0	107.0					2																	30457343		2203	4300	6503	SO:0001819	synonymous_variant	81606			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.99C>T	2.37:g.30457343C>T			B2RBC2|Q9H0Q1	Silent	SNP	pirsf_LBH,prints_LBH	p.L33	ENST00000395323.3	37	c.99	CCDS33173.1	2																																																																																			LBH	-	pirsf_LBH,prints_LBH		0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1	C	NM_030915		30457343	+1	no_errors	ENST00000395323	ensembl	human	known	70_37	silent	SNP	0.991	T
LGI2	55203	genome.wustl.edu	37	4	25014039	25014039	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:25014039G>A	ENST00000382114.4	-	7	923	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	246						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGGGCTGCGCGATGGCCACGT	0.478																																																	0													153.0	127.0	136.0					4																	25014039		2203	4300	6503	SO:0001819	synonymous_variant	55203			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.738C>T	4.37:g.25014039G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.I246	ENST00000382114.4	37	c.738	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP,pfscan_EAR		0.478	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	G			25014039	-1	no_errors	ENST00000382114	ensembl	human	known	70_37	silent	SNP	0.999	A
Unknown	0	genome.wustl.edu	37	X	3824128	3824128	+	IGR	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:3824128G>C								RP11-706O15.5 (4087 upstream) : RP11-706O15.7 (23781 downstream)																							TGGTGACGTGGAGTCCCACCA	0.617																																																	0																																										SO:0001628	intergenic_variant	100506453																															X.37:g.3824128G>C				RNA	SNP	-	NULL		37	NULL		X																																																																																			RP11-706O15.5	-	-	0	0.617					LOC100506453	Clone_based_vega_gene			G			3824128	-1	no_errors	ENST00000381106	ensembl	human	known	70_37	rna	SNP	0.002	C
LONRF1	91694	genome.wustl.edu	37	8	12594212	12594212	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:12594212C>G	ENST00000398246.3	-	6	1518	c.1449G>C	c.(1447-1449)atG>atC	p.M483I	LONRF1_ENST00000533751.1_Missense_Mutation_p.M126I|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	483							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATGCTTACCTCATGCAGAGAG	0.303																																																	0													63.0	58.0	60.0					8																	12594212		1812	4069	5881	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1449G>C	8.37:g.12594212C>G	ENSP00000381298:p.Met483Ile		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.M483I	ENST00000398246.3	37	c.1449	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586592	0.86851	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;D;D	0.84730	-1.89;-1.89;-1.89	4.98	4.98	0.66077	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.081559	0.85682	D	0.000000	D	0.83917	0.5358	N	0.26092	0.79	0.80722	D	1	B;B	0.33379	0.357;0.41	B;B	0.44224	0.316;0.444	D	0.83939	0.0310	10	0.54805	T	0.06	-13.6649	19.1382	0.93436	0.0:1.0:0.0:0.0	.	472;483	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	I	483;126;86	ENSP00000381298:M483I;ENSP00000432130:M126I;ENSP00000433327:M86I	ENSP00000381298:M483I	M	-	3	0	LONRF1	12638583	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.389000	0.79806	2.683000	0.91414	0.650000	0.86243	ATG	LONRF1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.303	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	C	NM_152271		12594212	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP1B	53353	genome.wustl.edu	37	2	141202189	141202189	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:141202189C>A	ENST00000389484.3	-	64	11088	c.10117G>T	c.(10117-10119)Gct>Tct	p.A3373S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3373	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGAAAGCTGGTAGAGCA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													102.0	95.0	97.0					2																	141202189		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10117G>T	2.37:g.141202189C>A	ENSP00000374135:p.Ala3373Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A3373S	ENST00000389484.3	37	c.10117	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930917	0.73327	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94931	-3.56	5.85	5.85	0.93711	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.070956	0.56097	D	0.000022	D	0.88485	0.6449	N	0.01202	-0.96	0.41301	D	0.987049	P	0.50819	0.939	P	0.53809	0.735	D	0.86281	0.1667	10	0.06494	T	0.89	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3373	Q9NZR2	LRP1B_HUMAN	S	3373;3311	ENSP00000374135:A3373S	ENSP00000374135:A3373S	A	-	1	0	LRP1B	140918659	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	3.920000	0.56446	2.767000	0.95098	0.563000	0.77884	GCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141202189	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRD1	401387	genome.wustl.edu	37	7	91794192	91794192	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:91794192C>T	ENST00000458448.1	-	2	525	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.E109K|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000454089.2_5'UTR			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	109					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						GCCTGATATTCTGCAGTCCTC	0.383																																																	0													191.0	162.0	171.0					7																	91794192		692	1591	2283	SO:0001583	missense	401387			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.325G>A	7.37:g.91794192C>T	ENSP00000405987:p.Glu109Lys		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.E109K	ENST00000458448.1	37	c.325	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519871	0.44866	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.37058	1.22;1.22	4.99	3.18	0.36537	.	.	.	.	.	T	0.25269	0.0614	L	0.27053	0.805	0.22240	N	0.999268	B	0.14438	0.01	B	0.12837	0.008	T	0.17623	-1.0363	9	0.36615	T	0.2	.	9.3298	0.38014	0.0:0.8257:0.0:0.1743	.	109	A4D1F6	LRRD1_HUMAN	K	109	ENSP00000405987:E109K;ENSP00000411568:E109K	ENSP00000411568:E109K	E	-	1	0	LRRD1	91632128	0.001000	0.12720	0.011000	0.14972	0.029000	0.11900	1.001000	0.29783	0.777000	0.33496	0.650000	0.86243	GAA	LRRD1	-	NULL		0.383	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	C	NM_001045475		91794192	-1	no_errors	ENST00000430130	ensembl	human	known	70_37	missense	SNP	0.036	T
MACC1	346389	genome.wustl.edu	37	7	20193818	20193818	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:20193818C>G	ENST00000400331.5	-	6	2652	c.2344G>C	c.(2344-2346)Gag>Cag	p.E782Q	MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000589011.1_Missense_Mutation_p.E782Q|MACC1_ENST00000332878.4_Missense_Mutation_p.E782Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	782					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGTCTTACCTCAACAGCAACA	0.418																																																	0													178.0	157.0	164.0					7																	20193818		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2344G>C	7.37:g.20193818C>G	ENSP00000383185:p.Glu782Gln		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.E782Q	ENST00000400331.5	37	c.2344	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437821	0.25900	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.39787	1.06;1.06	5.25	5.25	0.73442	.	0.050734	0.85682	D	0.000000	T	0.31327	0.0793	L	0.40543	1.245	0.42433	D	0.992684	P	0.39748	0.686	B	0.32090	0.14	T	0.10917	-1.0609	10	0.27785	T	0.31	-18.4298	14.4591	0.67438	0.0:0.8529:0.1471:0.0	.	782	Q6ZN28	MACC1_HUMAN	Q	782	ENSP00000383185:E782Q;ENSP00000328410:E782Q	ENSP00000328410:E782Q	E	-	1	0	MACC1	20160343	1.000000	0.71417	0.939000	0.37840	0.117000	0.20001	4.034000	0.57289	2.442000	0.82660	0.655000	0.94253	GAG	MACC1	-	NULL		0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	C	NM_182762		20193818	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	0.969	G
LRRD1	401387	genome.wustl.edu	37	7	91794375	91794375	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:91794375C>T	ENST00000458448.1	-	2	342	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.E48K|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000454089.2_5'UTR			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	48					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						GATTTCCCTTCCAGGTAATCA	0.348																																																	0													98.0	84.0	88.0					7																	91794375		692	1591	2283	SO:0001583	missense	401387			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.142G>A	7.37:g.91794375C>T	ENSP00000405987:p.Glu48Lys		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.E48K	ENST00000458448.1	37	c.142	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	C	7.438	0.640141	0.14386	.	.	ENSG00000240720	ENST00000458448;ENST00000430130;ENST00000437357	T;T	0.36878	1.23;1.23	3.35	2.43	0.29744	.	.	.	.	.	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	0.999991	B	0.17038	0.02	B	0.12156	0.007	T	0.30446	-0.9978	9	0.15066	T	0.55	.	7.5552	0.27820	0.0:0.8666:0.0:0.1334	.	48	A4D1F6	LRRD1_HUMAN	K	48	ENSP00000405987:E48K;ENSP00000411568:E48K	ENSP00000411568:E48K	E	-	1	0	LRRD1	91632311	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.906000	0.28517	0.640000	0.30582	0.650000	0.86243	GAA	LRRD1	-	NULL		0.348	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	C	NM_001045475		91794375	-1	no_errors	ENST00000430130	ensembl	human	known	70_37	missense	SNP	0.003	T
MALAT1	378938	genome.wustl.edu	37	11	65266394	65266394	+	lincRNA	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65266394G>A	ENST00000534336.1	+	0	1162				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGTAAAACTAGAACCTATTTT	0.383																																																	0													71.0	75.0	74.0					11																	65266394		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266394G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.383	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65266394	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.000	A
MALAT1	378938	genome.wustl.edu	37	11	65266569	65266569	+	lincRNA	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65266569G>C	ENST00000534336.1	+	0	1337				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGCGGAGCTTGAGGAAACCGC	0.458																																																	0													78.0	84.0	82.0					11																	65266569		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266569G>C				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.458	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65266569	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.001	C
MALAT1	378938	genome.wustl.edu	37	11	65266950	65266950	+	lincRNA	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65266950G>C	ENST00000534336.1	+	0	1718				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AAAATAATTTGAAGGCGATCT	0.323																																																	0													9.0	9.0	9.0					11																	65266950		869	1973	2842			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266950G>C				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.323	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	G	NR_002819		65266950	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.001	C
MAP2	4133	genome.wustl.edu	37	2	210561040	210561040	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:210561040C>G	ENST00000360351.4	+	7	4652	c.4146C>G	c.(4144-4146)atC>atG	p.I1382M	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1378M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1382					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ACGACTCCATCATGGACGCTG	0.403																																					Pancreas(27;423 979 28787 29963)												0													58.0	65.0	62.0					2																	210561040		2202	4300	6502	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4146C>G	2.37:g.210561040C>G	ENSP00000353508:p.Ile1382Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.I1382M	ENST00000360351.4	37	c.4146	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452322	0.43531	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	5.82	4.02	0.46733	MAP2/Tau projection (1);	0.098042	0.44902	D	0.000410	T	0.40473	0.1118	L	0.59436	1.845	0.42971	D	0.99443	P;P	0.52577	0.879;0.954	P;P	0.62298	0.715;0.9	T	0.21449	-1.0245	10	0.72032	D	0.01	-5.7123	7.7909	0.29119	0.0:0.7344:0.133:0.1326	.	1378;1382	P11137-3;P11137	.;MAP2_HUMAN	M	1382;1378	ENSP00000353508:I1382M;ENSP00000392164:I1378M	ENSP00000353508:I1382M	I	+	3	3	MAP2	210269285	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.229000	0.32600	0.797000	0.33971	0.650000	0.86243	ATC	MAP2	-	pfam_MAP2_projctn		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210561040	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	G
MEOX2	4223	genome.wustl.edu	37	7	15725543	15725543	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:15725543C>T	ENST00000262041.5	-	1	894	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	162					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCCGCCGCTTCGCTTCTCCGC	0.692																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													68.0	80.0	76.0					7																	15725543		2196	4286	6482	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.485G>A	7.37:g.15725543C>T	ENSP00000262041:p.Arg162Gln		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R162Q	ENST00000262041.5	37	c.485	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495092	0.85069	.	.	ENSG00000106511	ENST00000262041	D	0.90133	-2.62	5.3	5.3	0.74995	.	0.095692	0.64402	D	0.000001	D	0.91872	0.7427	L	0.47716	1.5	0.54753	D	0.999989	D	0.69078	0.997	P	0.55965	0.788	D	0.89903	0.4046	10	0.25751	T	0.34	-13.9179	18.9556	0.92657	0.0:1.0:0.0:0.0	.	162	P50222	MEOX2_HUMAN	Q	162	ENSP00000262041:R162Q	ENSP00000262041:R162Q	R	-	2	0	MEOX2	15692068	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.901000	0.75693	2.464000	0.83262	0.563000	0.77884	CGA	MEOX2	-	NULL		0.692	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	C	NM_005924		15725543	-1	no_errors	ENST00000262041	ensembl	human	known	70_37	missense	SNP	1.000	T
MT-ND6	4541	genome.wustl.edu	37	M	14180	14180	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrM:14180T>C	ENST00000361681.2	-	1	493	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	165			Y -> C. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CAATTACAATATATACACCAA	0.418																																																	0																																										SO:0001583	missense	4541					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.494A>G	M.37:g.14180T>C	ENSP00000354665:p.Tyr165Cys		Q34774|Q8HG30	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.Y165C	ENST00000361681.2	37	c.494		MT																																																																																			MT-ND6	-	pfam_NADH_UbQ/plastoQ_OxRdtase_su6		0.418	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	HGNC	protein_coding		T	YP_003024037		14180	-1	no_errors	ENST00000361681	ensembl	human	known	70_37	missense	SNP	NULL	C
MTUS2	23281	genome.wustl.edu	37	13	30054388	30054388	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:30054388G>A	ENST00000380808.2	+	3	439	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1106K|MTUS2_ENST00000542829.1_5'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1096						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAGCAGGCCGAGCTCCAGGA	0.617																																																	0													6.0	11.0	10.0					13																	30054388		1911	4064	5975	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.223G>A	13.37:g.30054388G>A	ENSP00000370186:p.Glu75Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E1106K	ENST00000380808.2	37	c.3316	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875926	0.91664	.	.	ENSG00000132938	ENST00000431530;ENST00000380808	T;T	0.20332	2.45;2.08	5.44	4.59	0.56863	.	0.090843	0.85682	D	0.000000	T	0.34193	0.0889	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.932;0.99	T	0.04140	-1.0974	9	.	.	.	.	14.8857	0.70567	0.0:0.1563:0.8436:0.0	.	75;1096	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	K	1106;75	ENSP00000392057:E1106K;ENSP00000370186:E75K	.	E	+	1	0	MTUS2	28952388	1.000000	0.71417	0.911000	0.35937	0.985000	0.73830	5.633000	0.67825	1.514000	0.48869	-0.219000	0.12488	GAG	MTUS2	-	NULL		0.617	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30054388	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.993	A
MYH3	4621	genome.wustl.edu	37	17	10558294	10558294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:10558294G>A	ENST00000583535.1	-	3	175	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q30*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	30					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAAGGGCTGGTTCTGAGCC	0.498																																																	0													193.0	179.0	184.0					17																	10558294		2203	4300	6503	SO:0001587	stop_gained	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.88C>T	17.37:g.10558294G>A	ENSP00000464317:p.Gln30*		Q15492	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q30*	ENST00000583535.1	37	c.88	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.351739	0.95830	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7078	0.77598	0.0:0.0:0.8631:0.1369	.	.	.	.	X	30	.	ENSP00000226209:Q30X	Q	-	1	0	MYH3	10499019	0.005000	0.15991	1.000000	0.80357	0.978000	0.69477	0.233000	0.17911	2.794000	0.96219	0.655000	0.94253	CAG	MYH3	-	NULL		0.498	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10558294	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYLK	4638	genome.wustl.edu	37	3	123512627	123512627	+	Missense_Mutation	SNP	G	G	A	rs28497577	byFrequency	TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:123512627G>A	ENST00000475616.1	-	1	61	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MYLK_ENST00000346322.5_Missense_Mutation_p.P21L|MYLK_ENST00000359169.1_Missense_Mutation_p.P21L|MYLK_ENST00000360304.3_Missense_Mutation_p.P21L|MYLK_ENST00000360772.3_Missense_Mutation_p.P21L			Q15746	MYLK_HUMAN	myosin light chain kinase	21			P -> H (in dbSNP:rs28497577).		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AACTCTTGAGGGATCCACACT	0.542																																																	0													67.0	69.0	68.0					3																	123512627		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.62C>T	3.37:g.123512627G>A	ENSP00000418335:p.Pro21Leu		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P21L	ENST00000475616.1	37	c.62	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269151	0.23221	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.67698	-0.28;-0.23;-0.28;-0.26;-0.23	5.91	0.146	0.14833	.	.	.	.	.	T	0.60983	0.2311	N	0.24115	0.695	0.80722	P	0.0	P;P;B;B;B;B;P	0.45827	0.867;0.867;0.392;0.13;0.328;0.13;0.79	P;P;B;B;B;B;B	0.49332	0.607;0.607;0.149;0.103;0.264;0.103;0.403	T	0.60772	-0.7197	8	0.16896	T	0.51	.	20.3305	0.98715	0.0:0.0:0.8627:0.1373	.	21;21;21;21;21;21;21	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	L	21	ENSP00000354004:P21L;ENSP00000353452:P21L;ENSP00000352088:P21L;ENSP00000320622:P21L;ENSP00000418335:P21L	ENSP00000320622:P21L	P	-	2	0	MYLK	124995317	0.886000	0.30341	0.528000	0.27938	0.337000	0.28794	-0.203000	0.09438	0.013000	0.14918	0.655000	0.94253	CCC	MYLK	-	NULL		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	G	NM_053025		123512627	-1	no_errors	ENST00000360304	ensembl	human	known	70_37	missense	SNP	0.011	A
NAA60	79903	genome.wustl.edu	37	16	3533506	3533506	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:3533506C>G	ENST00000407558.4	+	6	784	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	NAA60_ENST00000572942.1_Intron|NAA60_ENST00000575076.1_Missense_Mutation_p.L161V|NAA60_ENST00000572584.1_Missense_Mutation_p.L161V|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Missense_Mutation_p.L168V|NAA60_ENST00000608722.1_Missense_Mutation_p.L161V|NAA60_ENST00000610180.1_Missense_Mutation_p.L161V|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000360862.5_Missense_Mutation_p.L96V|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000608993.1_Missense_Mutation_p.L96V|NAA60_ENST00000414063.2_Missense_Mutation_p.L161V|NAA60_ENST00000573580.1_Missense_Mutation_p.L96V|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570819.1_Intron			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	161	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GCACCACTATCTCCCCTATTA	0.488																																																	0													142.0	151.0	148.0					16																	3533506		2039	4183	6222	SO:0001583	missense	79903				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.481C>G	16.37:g.3533506C>G	ENSP00000385903:p.Leu161Val		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L161V	ENST00000407558.4	37	c.481	CCDS45396.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156996	0.78114	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.55052	0.54;0.67;0.67;0.93	5.47	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.63169	1.94	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.66979	0.948;0.908	T	0.66630	-0.5875	10	0.39692	T	0.17	-23.1009	13.5107	0.61511	0.0:0.9245:0.0:0.0755	.	168;161	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	V	168;161;161;96	ENSP00000401237:L168V;ENSP00000385903:L161V;ENSP00000393224:L161V;ENSP00000354108:L96V	ENSP00000354108:L96V	L	+	1	0	NAA60	3473507	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	4.419000	0.59835	1.448000	0.47680	0.561000	0.74099	CTC	NAA60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.488	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2	C	NM_024845		3533506	+1	no_errors	ENST00000407558	ensembl	human	known	70_37	missense	SNP	0.999	G
NBAS	51594	genome.wustl.edu	37	2	15372596	15372596	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:15372596C>T	ENST00000281513.5	-	47	6211	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NBAS_ENST00000441750.1_Silent_p.L1942L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2062					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGGACCTTCAGTGGGTCCC	0.478																																																	0													99.0	77.0	84.0					2																	15372596		2203	4300	6503	SO:0001819	synonymous_variant	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6186G>A	2.37:g.15372596C>T			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L2062	ENST00000281513.5	37	c.6186	CCDS1685.1	2																																																																																			NBAS	-	NULL		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15372596	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	silent	SNP	0.665	T
NBPF10	100132406	genome.wustl.edu	37	1	145301734	145301734	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:145301734A>G	ENST00000369339.3	+	4	443	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E	NBPF10_ENST00000369338.1_Missense_Mutation_p.K64E|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.K335E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	335						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGAAGAGTGCAAAGACCTCAT	0.517																																																	0																																										SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.190A>G	1.37:g.145301734A>G	ENSP00000358345:p.Lys64Glu		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.K335E	ENST00000369339.3	37	c.1003		1	.	.	.	.	.	.	.	.	.	.	.	0.802	-0.755213	0.03019	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09255	3.0;3.91	0.616	-1.23	0.09465	.	.	.	.	.	T	0.07593	0.0191	L	0.50333	1.59	0.09310	N	1	B;P	0.49696	0.002;0.927	B;P	0.56563	0.003;0.801	T	0.15723	-1.0427	8	0.59425	D	0.04	.	.	.	.	.	64;64	A8MQ30;Q86T75-2	.;.	E	260;64;64;335	ENSP00000358344:K64E;ENSP00000345684:K335E	ENSP00000345684:K335E	K	+	1	0	NBPF10	144013091	0.007000	0.16637	0.000000	0.03702	0.061000	0.15899	-0.085000	0.11250	-0.362000	0.08113	-1.796000	0.00623	AAA	NBPF10	-	NULL		0.517	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	A	NM_001039703		145301734	+1	no_errors	ENST00000342960	ensembl	human	known	70_37	missense	SNP	0.001	G
NEB	4703	genome.wustl.edu	37	2	152580836	152580836	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:152580836G>C	ENST00000172853.10	-	8	697	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	NEB_ENST00000604864.1_Missense_Mutation_p.L184V|NEB_ENST00000603639.1_Missense_Mutation_p.L184V|NEB_ENST00000397345.3_Missense_Mutation_p.L184V|NEB_ENST00000409198.1_Missense_Mutation_p.L184V|NEB_ENST00000427231.2_Missense_Mutation_p.L184V			P20929	NEBU_HUMAN	nebulin	184					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGAAGCAGGTACTTATCC	0.502																																																	0													146.0	153.0	151.0					2																	152580836		1995	4166	6161	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.550C>G	2.37:g.152580836G>C	ENSP00000172853:p.Leu184Val		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L184V	ENST00000172853.10	37	c.550		2	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380545	0.24944	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.05996	3.36;3.4;3.37;3.36	6.02	5.12	0.69794	.	0.164148	0.41605	D	0.000843	T	0.14743	0.0356	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.24870	-1.0148	10	0.10636	T	0.68	.	8.8734	0.35330	0.103:0.1453:0.7517:0.0	.	184	P20929	NEBU_HUMAN	V	184	ENSP00000386259:L184V;ENSP00000380505:L184V;ENSP00000416578:L184V;ENSP00000172853:L184V	ENSP00000172853:L184V	L	-	1	2	NEB	152289082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.451000	0.52964	1.513000	0.48852	0.650000	0.86243	CTG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.502	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152580836	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	C
NELL1	4745	genome.wustl.edu	37	11	20968933	20968933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:20968933G>T	ENST00000357134.5	+	11	1275	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	NELL1_ENST00000532434.1_Nonsense_Mutation_p.E375*|NELL1_ENST00000298925.5_Nonsense_Mutation_p.E403*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.E318*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	375					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACTGCTCAGAAAAGGATCA	0.458																																																	0													135.0	130.0	132.0					11																	20968933		2203	4300	6503	SO:0001587	stop_gained	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1123G>T	11.37:g.20968933G>T	ENSP00000349654:p.Glu375*		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E375*	ENST00000357134.5	37	c.1123	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.069306	0.98638	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	5.23	0.72850	.	0.881424	0.09916	N	0.739084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.5535	15.3561	0.74428	0.0:0.0:0.861:0.1389	.	.	.	.	X	403;375;318;375	.	ENSP00000298925:E403X	E	+	1	0	NELL1	20925509	0.872000	0.30054	0.985000	0.45067	0.990000	0.78478	2.454000	0.44979	2.941000	0.99782	0.655000	0.94253	GAA	NELL1	-	smart_VWF_C		0.458	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	G	NM_006157		20968933	+1	no_errors	ENST00000357134	ensembl	human	known	70_37	nonsense	SNP	0.986	T
NELL2	4753	genome.wustl.edu	37	12	44913800	44913800	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:44913800G>A	ENST00000429094.2	-	19	2892	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	NELL2_ENST00000333837.4_Silent_p.L819L|NELL2_ENST00000437801.2_Silent_p.L846L|NELL2_ENST00000551601.1_Silent_p.L748L|NELL2_ENST00000452445.2_Silent_p.L796L|NELL2_ENST00000395487.2_Silent_p.L795L|NELL2_ENST00000549027.1_Silent_p.L795L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	796						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGCACTGGCAGAGAGTACACT	0.468																																																	0													86.0	78.0	80.0					12																	44913800		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2388C>T	12.37:g.44913800G>A			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.L846	ENST00000429094.2	37	c.2538	CCDS8746.1	12																																																																																			NELL2	-	NULL		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		44913800	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	A
NFE2L3	9603	genome.wustl.edu	37	7	26224804	26224804	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:26224804C>G	ENST00000056233.3	+	4	1745	c.1486C>G	c.(1486-1488)Cat>Gat	p.H496D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	496					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.H496Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACACGTATTTCATAACCACAC	0.438																																																	1	Substitution - Missense(1)	urinary_tract(1)											165.0	155.0	158.0					7																	26224804		2203	4300	6503	SO:0001583	missense	9603			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1486C>G	7.37:g.26224804C>G	ENSP00000056233:p.His496Asp		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.H496D	ENST00000056233.3	37	c.1486	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118139	0.77323	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.38077	1.16	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.74188	-0.3746	10	0.72032	D	0.01	-22.7393	18.9601	0.92674	0.0:1.0:0.0:0.0	.	496	Q9Y4A8	NF2L3_HUMAN	D	496;202	ENSP00000056233:H496D	ENSP00000056233:H496D	H	+	1	0	NFE2L3	26191329	0.979000	0.34478	0.806000	0.32338	0.860000	0.49131	3.403000	0.52615	2.564000	0.86499	0.591000	0.81541	CAT	NFE2L3	-	NULL		0.438	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	C			26224804	+1	no_errors	ENST00000056233	ensembl	human	known	70_37	missense	SNP	0.998	G
NXPH3	11248	genome.wustl.edu	37	17	47656341	47656341	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:47656341C>T	ENST00000328741.5	+	2	800	c.438C>T	c.(436-438)atC>atT	p.I146I	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.I146I	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	146	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACATCTCCATCAGCCTCGTGC	0.552																																																	0													113.0	93.0	100.0					17																	47656341		2203	4300	6503	SO:0001819	synonymous_variant	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.438C>T	17.37:g.47656341C>T			Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.I146	ENST00000328741.5	37	c.438	CCDS11550.1	17																																																																																			NXPH3	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.552	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	C			47656341	+1	no_errors	ENST00000328741	ensembl	human	known	70_37	silent	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228447306	228447306	+	Intron	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:228447306G>C	ENST00000422127.1	+	15	4629				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.E128Q|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1656Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCAGACAGAGGTGACTTG	0.617																																																	0													105.0	95.0	98.0					1																	228447306		876	1991	2867	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4585+2679G>C	1.37:g.228447306G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E1564Q	ENST00000422127.1	37	c.4690	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.34	1.909255	0.33721	.	.	ENSG00000154358	ENST00000359599	T	0.67865	-0.29	5.25	2.31	0.28768	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36286	-0.9754	6	0.15952	T	0.53	.	8.2628	0.31795	0.1424:0.1295:0.7281:0.0	.	.	.	.	Q	128	ENSP00000352613:E128Q	ENSP00000352613:E128Q	E	+	1	0	OBSCN	226513929	1.000000	0.71417	0.368000	0.25939	0.090000	0.18270	3.464000	0.53057	0.213000	0.20722	-0.136000	0.14681	GAG	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228447306	+1	no_errors	ENST00000570156	ensembl	human	putative	70_37	missense	SNP	0.972	C
OLFML2A	169611	genome.wustl.edu	37	9	127557323	127557323	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:127557323C>T	ENST00000373580.3	+	3	375	c.375C>T	c.(373-375)ctC>ctT	p.L125L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	125					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGTGGATCTCCTGGAGGGCA	0.602																																																	0													23.0	25.0	24.0					9																	127557323		2022	4164	6186	SO:0001819	synonymous_variant	169611			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.375C>T	9.37:g.127557323C>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.L125	ENST00000373580.3	37	c.375	CCDS6857.2	9																																																																																			OLFML2A	-	NULL		0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	C	NM_182487		127557323	+1	no_errors	ENST00000373580	ensembl	human	known	70_37	silent	SNP	1.000	T
OR6C2	341416	genome.wustl.edu	37	12	55846307	55846307	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:55846307C>G	ENST00000322678.1	+	1	310	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTTTGTTATTCTCTTTGGAGC	0.398																																																	0													137.0	135.0	136.0					12																	55846307		2203	4299	6502	SO:0001583	missense	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.310C>G	12.37:g.55846307C>G	ENSP00000323606:p.Leu104Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L104V	ENST00000322678.1	37	c.310	CCDS31824.1	12	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956209	0.18507	.	.	ENSG00000179695	ENST00000322678	T	0.01126	5.3	5.42	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.406948	0.20315	N	0.094750	T	0.00967	0.0032	L	0.31845	0.965	0.09310	N	1	B	0.12630	0.006	B	0.18561	0.022	T	0.45673	-0.9245	10	0.51188	T	0.08	.	4.0063	0.09603	0.2566:0.3291:0.0:0.4143	.	104	Q9NZP2	OR6C2_HUMAN	V	104	ENSP00000323606:L104V	ENSP00000323606:L104V	L	+	1	0	OR6C2	54132574	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.727000	0.01860	-0.105000	0.12132	-0.208000	0.12717	CTC	OR6C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	C	NM_054105		55846307	+1	no_errors	ENST00000322678	ensembl	human	known	70_37	missense	SNP	0.000	G
PAGE1	8712	genome.wustl.edu	37	X	49459350	49459350	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:49459350G>C	ENST00000376150.3	-	2	156	c.24C>G	c.(22-24)atC>atG	p.I8M		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	8					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					TACGCCGATAGATTAATCTTC	0.378																																																	0													76.0	63.0	68.0					X																	49459350		2203	4300	6503	SO:0001583	missense	8712			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.24C>G	X.37:g.49459350G>C	ENSP00000365320:p.Ile8Met		Q6FGM3|Q9BSS7	Missense_Mutation	SNP	pfam_GAGE	p.I8M	ENST00000376150.3	37	c.24	CCDS14327.1	X	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841104	0.16891	.	.	ENSG00000068985	ENST00000376150	T	0.10099	2.91	1.57	-3.13	0.05266	.	.	.	.	.	T	0.07143	0.0181	L	0.50333	1.59	0.09310	N	1	P	0.51537	0.946	B	0.38683	0.279	T	0.11991	-1.0565	9	0.66056	D	0.02	.	0.0918	0.00040	0.2396:0.1974:0.253:0.31	.	8	O75459	GAGB1_HUMAN	M	8	ENSP00000365320:I8M	ENSP00000365320:I8M	I	-	3	3	PAGE1	49346061	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.390000	0.07332	-1.066000	0.03164	-0.527000	0.04329	ATC	PAGE1	-	pfam_GAGE		0.378	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE1	HGNC	protein_coding	OTTHUMT00000081210.1	G			49459350	-1	no_errors	ENST00000376150	ensembl	human	known	70_37	missense	SNP	0.000	C
PAX1	5075	genome.wustl.edu	37	20	21695175	21695175	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr20:21695175T>A	ENST00000398485.2	+	5	1393	c.1339T>A	c.(1339-1341)Tgc>Agc	p.C447S	PAX1_ENST00000444366.2_Missense_Mutation_p.L426Q	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	447					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTACACGGACTGCCCATCCCG	0.716																																																	0													11.0	11.0	11.0					20																	21695175		2193	4290	6483	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1339T>A	20.37:g.21695175T>A	ENSP00000381499:p.Cys447Ser		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.C447S	ENST00000398485.2	37	c.1339	CCDS13146.2	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.9|23.9	4.474982|4.474982	0.84640|0.84640	.|.	.|.	ENSG00000125813|ENSG00000125813	ENST00000398485|ENST00000444366	D|D	0.97598|0.98822	-4.45|-5.16	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|.	.|.	.|.	.|.	D|D	0.97980|0.97980	0.9335|0.9335	N|N	0.24115|0.24115	0.695|0.695	0.31966|0.31966	N|N	0.607764|0.607764	B|D;D	0.15141|0.76494	0.012|0.999;0.998	B|D;D	0.11329|0.67382	0.006|0.951;0.927	D|D	0.98023|0.98023	1.0372|1.0372	9|9	0.21540|0.87932	T|D	0.41|0	.|.	13.8023|13.8023	0.63208|0.63208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	447|426;356	P15863|P15863-2;C9J775	PAX1_HUMAN|.;.	S|Q	447|426	ENSP00000381499:C447S|ENSP00000410355:L426Q	ENSP00000381499:C447S|ENSP00000410355:L426Q	C|L	+|+	1|2	0|0	PAX1|PAX1	21643175|21643175	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.973000|0.973000	0.67179|0.67179	4.540000|4.540000	0.60664|0.60664	1.948000|1.948000	0.56530|0.56530	0.454000|0.454000	0.30748|0.30748	TGC|CTG	PAX1	-	NULL		0.716	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	T			21695175	+1	no_errors	ENST00000398485	ensembl	human	known	70_37	missense	SNP	0.996	A
PCDHA2	56146	genome.wustl.edu	37	5	140175000	140175000	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140175000C>T	ENST00000526136.1	+	1	451	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R151W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R151W	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGATTCTCGGTTTCCTCT	0.458																																																	0													88.0	92.0	91.0					5																	140175000		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.451C>T	5.37:g.140175000C>T	ENSP00000431748:p.Arg151Trp		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R151W	ENST00000526136.1	37	c.451	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	13.76	2.331850	0.41297	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53857	0.6;0.6;0.6	3.81	-3.5	0.04710	Cadherin (2);Cadherin-like (1);	0.870483	0.09082	U	0.851236	T	0.72898	0.3518	H	0.94620	3.56	0.09310	N	1	P;P;P	0.48998	0.918;0.882;0.918	P;P;P	0.53102	0.45;0.718;0.45	T	0.73100	-0.4089	10	0.72032	D	0.01	.	15.1285	0.72500	0.5312:0.4688:0.0:0.0	.	151;151;151	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	151	ENSP00000430584:R151W;ENSP00000367372:R151W;ENSP00000431748:R151W	ENSP00000367372:R151W	R	+	1	2	PCDHA2	140155184	0.000000	0.05858	0.009000	0.14445	0.840000	0.47671	-0.358000	0.07641	-0.408000	0.07565	0.644000	0.83932	CGG	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	C	NM_018905		140175000	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.002	T
PCDHB11	56125	genome.wustl.edu	37	5	140580667	140580667	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140580667G>T	ENST00000354757.3	+	1	1320	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.L75F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTGTGTTGGTCTCTGACG	0.567																																																	0													154.0	138.0	143.0					5																	140580667		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1320G>T	5.37:g.140580667G>T	ENSP00000346802:p.Leu440Phe		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L440F	ENST00000354757.3	37	c.1320	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	3.278	-0.147572	0.06627	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.01787	4.64;4.64	2.52	1.62	0.23740	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02610	0.0079	M	0.61703	1.905	0.09310	N	1	B	0.15930	0.015	B	0.32805	0.153	T	0.49244	-0.8960	9	0.13108	T	0.6	.	4.9703	0.14111	0.1188:0.0:0.6765:0.2047	.	440	Q9Y5F2	PCDBB_HUMAN	F	75;440;128	ENSP00000440344:L75F;ENSP00000346802:L440F	ENSP00000346802:L440F	L	+	3	2	PCDHB11	140560851	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-2.816000	0.00752	0.389000	0.25086	0.306000	0.20318	TTG	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580667	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.005	T
PCDHGA8	9708	genome.wustl.edu	37	5	140774555	140774555	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr5:140774555C>T	ENST00000398604.2	+	1	2175	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	725					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCTGCTCCAGGATTCCG	0.592																																																	0													48.0	53.0	51.0					5																	140774555		2191	4296	6487	SO:0001819	synonymous_variant	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2175C>T	5.37:g.140774555C>T			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L725	ENST00000398604.2	37	c.2175	CCDS47291.1	5																																																																																			PCDHGA8	-	NULL		0.592	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140774555	+1	no_errors	ENST00000398604	ensembl	human	known	70_37	silent	SNP	0.002	T
PCLO	27445	genome.wustl.edu	37	7	82764339	82764339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:82764339G>A	ENST00000333891.9	-	3	2864	c.2527C>T	c.(2527-2529)Caa>Taa	p.Q843*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q843*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTGTTTTTGACCTTTGCTC	0.438																																																	0													152.0	153.0	153.0					7																	82764339		1907	4119	6026	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2527C>T	7.37:g.82764339G>A	ENSP00000334319:p.Gln843*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.Q843*	ENST00000333891.9	37	c.2527	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.654764	0.99445	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	6.07	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.44976	D	0.997996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3318	0.49482	0.0:0.1235:0.417:0.4595	.	.	.	.	X	789;843;843	.	ENSP00000334319:Q843X	Q	-	1	0	PCLO	82602275	0.292000	0.24362	0.078000	0.20375	0.912000	0.54170	0.811000	0.27198	0.103000	0.17682	-0.211000	0.12701	CAA	PCLO	-	NULL		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82764339	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	0.421	A
PCNXL3	399909	genome.wustl.edu	37	11	65402865	65402865	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65402865C>G	ENST00000355703.3	+	31	5669	c.5130C>G	c.(5128-5130)gaC>gaG	p.D1710E	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1710						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATGCCTCCGACGAGTACAAGA	0.632																																																	0													23.0	24.0	23.0					11																	65402865		2068	4205	6273	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5130C>G	11.37:g.65402865C>G	ENSP00000347931:p.Asp1710Glu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.D1710E	ENST00000355703.3	37	c.5130	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258237	0.39896	.	.	ENSG00000197136	ENST00000355703	T	0.47528	0.84	4.11	-5.94	0.02247	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.88570	2.965	0.31379	N	0.67919	P;D	0.63046	0.786;0.992	P;D	0.67548	0.711;0.952	T	0.69091	-0.5237	10	0.59425	D	0.04	.	12.9004	0.58123	0.0:0.4905:0.0:0.5095	.	597;1710	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	E	1710	ENSP00000347931:D1710E	ENSP00000347931:D1710E	D	+	3	2	PCNXL3	65159441	0.066000	0.20996	0.142000	0.22268	0.168000	0.22595	-0.637000	0.05459	-1.323000	0.02275	-1.327000	0.01280	GAC	PCNXL3	-	pfam_Pecanex		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65402865	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.991	G
PCNXL3	399909	genome.wustl.edu	37	11	65403090	65403090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:65403090C>T	ENST00000355703.3	+	32	5814	c.5275C>T	c.(5275-5277)Cag>Tag	p.Q1759*	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1759						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCAGCATCCAGAACGCCAA	0.662																																																	0													25.0	31.0	29.0					11																	65403090		2169	4251	6420	SO:0001587	stop_gained	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5275C>T	11.37:g.65403090C>T	ENSP00000347931:p.Gln1759*		Q6MZN8	Nonsense_Mutation	SNP	pfam_Pecanex	p.Q1759*	ENST00000355703.3	37	c.5275	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	48	14.716371	0.99807	.	.	ENSG00000197136	ENST00000355703	.	.	.	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8973	0.63781	0.0:1.0:0.0:0.0	.	.	.	.	X	1759	.	ENSP00000347931:Q1759X	Q	+	1	0	PCNXL3	65159666	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.181000	0.77682	2.142000	0.66516	0.462000	0.41574	CAG	PCNXL3	-	pfam_Pecanex		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65403090	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PDE5A	8654	genome.wustl.edu	37	4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:120419875C>G	ENST00000354960.3	-	21	2828	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502																																																	1	Substitution - Missense(1)	lung(1)											93.0	92.0	92.0					4																	120419875		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2509G>C	4.37:g.120419875C>G	ENSP00000347046:p.Glu837Gln		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E837Q	ENST00000354960.3	37	c.2509	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291126	0.59976	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.82803	-1.65;-1.65;-1.65	5.31	4.47	0.54385	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.150726	0.64402	D	0.000016	D	0.84460	0.5477	L	0.41824	1.3	0.58432	D	0.999998	P;D	0.65815	0.764;0.995	P;P	0.57620	0.68;0.824	D	0.84725	0.0742	10	0.49607	T	0.09	.	13.9636	0.64196	0.0:0.9268:0.0:0.0732	.	837;795	O76074;O76074-2	PDE5A_HUMAN;.	Q	837;785;795	ENSP00000347046:E837Q;ENSP00000377957:E785Q;ENSP00000264805:E795Q	ENSP00000264805:E795Q	E	-	1	0	PDE5A	120639323	0.842000	0.29525	0.828000	0.32881	0.819000	0.46315	1.805000	0.38883	1.234000	0.43709	0.467000	0.42956	GAG	PDE5A	-	pfam_PDEase_catalytic_dom		0.502	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120419875	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	0.997	G
PER1	5187	genome.wustl.edu	37	17	8053162	8053162	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr17:8053162C>G	ENST00000317276.4	-	5	799	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	PER1_ENST00000354903.5_Missense_Mutation_p.E172Q|PER1_ENST00000581082.1_Missense_Mutation_p.E188Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	188					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCGCCCTCCTCCAGGCTCCAC	0.607			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													195.0	190.0	192.0					17																	8053162		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.562G>C	17.37:g.8053162C>G	ENSP00000314420:p.Glu188Gln		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E188Q	ENST00000317276.4	37	c.562	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374545	0.82573	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.38240	2.56;1.15	5.55	5.55	0.83447	.	0.050200	0.85682	D	0.000000	T	0.52533	0.1740	L	0.43923	1.385	0.58432	D	0.999992	D;D;D	0.71674	0.996;0.998;0.993	P;D;D	0.70227	0.851;0.94;0.968	T	0.48127	-0.9062	10	0.49607	T	0.09	-22.4823	17.0051	0.86391	0.0:1.0:0.0:0.0	.	188;172;188	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	188;172	ENSP00000314420:E188Q;ENSP00000346979:E172Q	ENSP00000314420:E188Q	E	-	1	0	PER1	7993887	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.770000	0.47662	2.620000	0.88729	0.563000	0.77884	GAG	PER1	-	NULL		0.607	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8053162	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	G
PKP3	11187	genome.wustl.edu	37	11	400353	400353	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:400353C>A	ENST00000331563.2	+	7	1544	c.1468C>A	c.(1468-1470)Cag>Aag	p.Q490K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	490					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCAGCCTCTCAGGCCACTCG	0.682																																																	0													22.0	22.0	22.0					11																	400353		2068	4115	6183	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1468C>A	11.37:g.400353C>A	ENSP00000331678:p.Gln490Lys		F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q490K	ENST00000331563.2	37	c.1468	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896600	0.52121	.	.	ENSG00000184363	ENST00000331563	T	0.74737	-0.87	3.48	3.48	0.39840	Armadillo-like helical (1);Armadillo-type fold (1);	0.236462	0.35207	U	0.003374	T	0.64571	0.2610	L	0.42245	1.32	0.44702	D	0.997697	P	0.35328	0.495	B	0.33750	0.169	T	0.62455	-0.6851	10	0.14656	T	0.56	-25.5434	15.5405	0.76039	0.0:1.0:0.0:0.0	.	490	Q9Y446	PKP3_HUMAN	K	490	ENSP00000331678:Q490K	ENSP00000331678:Q490K	Q	+	1	0	PKP3	390353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	1.953000	0.56701	0.472000	0.43445	CAG	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.682	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		400353	+1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	144992696	144992696	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:144992696C>T	ENST00000322810.4	-	32	11873	c.11704G>A	c.(11704-11706)Gag>Aag	p.E3902K	PLEC_ENST00000436759.2_Missense_Mutation_p.E3792K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3751K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3769K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3788K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3765K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3733K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3743K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3765K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3902	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCGCCCGCTCAGCCGAGAGC	0.672																																																	0													8.0	11.0	10.0					8																	144992696		1954	4064	6018	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11704G>A	8.37:g.144992696C>T	ENSP00000323856:p.Glu3902Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3902K	ENST00000322810.4	37	c.11704	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311494	0.23821	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.22	4.22	0.49857	.	0.000000	0.64402	U	0.000016	D	0.86016	0.5832	M	0.86651	2.83	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.57257	0.974;0.974;0.974;0.979;0.974;0.974;0.974;0.974	P;P;P;P;P;P;P;P	0.60949	0.811;0.811;0.811;0.881;0.811;0.811;0.811;0.811	D	0.89075	0.3472	10	0.72032	D	0.01	.	15.5025	0.75709	0.0:1.0:0.0:0.0	.	3792;3751;3743;3902;3733;3765;3769;3765	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3765;3769;3765;3733;3902;3743;3751;3792;3788	ENSP00000344848:E3765K;ENSP00000350277:E3769K;ENSP00000346602:E3765K;ENSP00000381756:E3733K;ENSP00000323856:E3902K;ENSP00000347044:E3743K;ENSP00000348702:E3751K;ENSP00000388180:E3792K;ENSP00000434583:E3788K	ENSP00000323856:E3902K	E	-	1	0	PLEC	145064684	1.000000	0.71417	0.907000	0.35723	0.012000	0.07955	7.593000	0.82686	2.174000	0.68829	0.453000	0.30009	GAG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144992696	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.999	T
PLEC	5339	genome.wustl.edu	37	8	144993135	144993135	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:144993135C>T	ENST00000322810.4	-	32	11434	c.11265G>A	c.(11263-11265)atG>atA	p.M3755I	PLEC_ENST00000436759.2_Missense_Mutation_p.M3645I|PLEC_ENST00000356346.3_Missense_Mutation_p.M3604I|PLEC_ENST00000357649.2_Missense_Mutation_p.M3622I|PLEC_ENST00000527096.1_Missense_Mutation_p.M3641I|PLEC_ENST00000345136.3_Missense_Mutation_p.M3618I|PLEC_ENST00000398774.2_Missense_Mutation_p.M3586I|PLEC_ENST00000354958.2_Missense_Mutation_p.M3596I|PLEC_ENST00000354589.3_Missense_Mutation_p.M3618I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3755	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATGATGATCATGCGTTCCT	0.622																																																	0													50.0	58.0	55.0					8																	144993135		2182	4276	6458	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11265G>A	8.37:g.144993135C>T	ENSP00000323856:p.Met3755Ile		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.M3755I	ENST00000322810.4	37	c.11265	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349270	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79454	-1.24;-1.24;-1.27;-1.27;-1.25;-1.24;-1.24;-1.23;-1.24	4.35	4.35	0.52113	.	0.000000	0.85682	U	0.000000	T	0.67268	0.2875	N	0.22421	0.69	0.53688	D	0.999976	B;B;B;B;B;B;B;B	0.12630	0.005;0.005;0.005;0.006;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B;B	0.15484	0.013;0.013;0.013;0.006;0.013;0.013;0.013;0.013	T	0.64956	-0.6285	10	0.48119	T	0.1	.	16.6623	0.85244	0.0:1.0:0.0:0.0	.	3645;3604;3596;3755;3586;3618;3622;3618	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	3618;3622;3618;3586;3755;3596;3604;3645;3641	ENSP00000344848:M3618I;ENSP00000350277:M3622I;ENSP00000346602:M3618I;ENSP00000381756:M3586I;ENSP00000323856:M3755I;ENSP00000347044:M3596I;ENSP00000348702:M3604I;ENSP00000388180:M3645I;ENSP00000434583:M3641I	ENSP00000323856:M3755I	M	-	3	0	PLEC	145065123	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	5.694000	0.68272	2.257000	0.74773	0.448000	0.29417	ATG	PLEC	-	NULL		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144993135	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHG5	57449	genome.wustl.edu	37	1	6556607	6556607	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:6556607C>G	ENST00000400915.3	-	2	93	c.27G>C	c.(25-27)aaG>aaC	p.K9N	PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.K30N|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.K32N|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.K30N	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	9					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGTCCCTTCTTTTCAGCGG	0.706																																																	0													35.0	39.0	37.0					1																	6556607		1912	4112	6024	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.27G>C	1.37:g.6556607C>G	ENSP00000383706:p.Lys9Asn		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K32N	ENST00000400915.3	37	c.96	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148539	0.37923	.	.	ENSG00000171680	ENST00000377748;ENST00000400915;ENST00000377740;ENST00000537245	T;T;T;T	0.66638	-0.21;-0.21;-0.21;-0.22	4.74	3.8	0.43715	.	1.069190	0.07334	N	0.879628	T	0.51907	0.1702	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22146	0.039;0.065;0.037	B;B;B	0.24155	0.016;0.051;0.023	T	0.41592	-0.9500	10	0.72032	D	0.01	-6.6298	8.4798	0.33036	0.0:0.8845:0.0:0.1155	.	30;30;9	Q5SY18;O94827-2;O94827	.;.;PKHG5_HUMAN	N	30;9;30;32	ENSP00000366977:K30N;ENSP00000383706:K9N;ENSP00000366969:K30N;ENSP00000439625:K32N	ENSP00000366969:K30N	K	-	3	2	PLEKHG5	6479194	0.831000	0.29352	0.963000	0.40424	0.481000	0.33189	0.793000	0.26944	1.064000	0.40671	0.609000	0.83330	AAG	PLEKHG5	-	NULL		0.706	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6556607	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	G
POGZ	23126	genome.wustl.edu	37	1	151380630	151380630	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:151380630G>C	ENST00000271715.2	-	15	2635	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C	POGZ_ENST00000392723.1_Missense_Mutation_p.S721C|POGZ_ENST00000368863.2_Missense_Mutation_p.S679C|POGZ_ENST00000409503.1_Missense_Mutation_p.S765C|POGZ_ENST00000361398.3_Missense_Mutation_p.S721C|POGZ_ENST00000491586.1_Missense_Mutation_p.S730C|POGZ_ENST00000540984.1_Missense_Mutation_p.S136C|POGZ_ENST00000531094.1_Missense_Mutation_p.S712C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	774					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCGACACAGAGAGCAGTGTAC	0.478																																																	0													152.0	134.0	140.0					1																	151380630		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2321C>G	1.37:g.151380630G>C	ENSP00000271715:p.Ser774Cys		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.S774C	ENST00000271715.2	37	c.2321	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071470	0.76301	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.36340	5.6;5.63;5.6;5.56;5.61;5.6;1.68;5.09;1.26	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000004	T	0.49167	0.1541	L	0.52011	1.625	0.53005	D	0.999962	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.993;0.962;0.997;0.994;0.992;0.993	T	0.50285	-0.8846	10	0.87932	D	0	-17.1403	17.971	0.89112	0.0:0.0:1.0:0.0	.	712;765;679;730;721;774	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	C	721;774;721;679;765;712;136;730;174	ENSP00000376484:S721C;ENSP00000271715:S774C;ENSP00000354467:S721C;ENSP00000357856:S679C;ENSP00000386836:S765C;ENSP00000431259:S712C;ENSP00000443547:S136C;ENSP00000418408:S730C;ENSP00000432295:S174C	ENSP00000271715:S774C	S	-	2	0	POGZ	149647254	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.127000	0.77210	2.592000	0.87571	0.655000	0.94253	TCT	POGZ	-	smart_Znf_C2H2-like		0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	G	NM_207171		151380630	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP2R5D	5528	genome.wustl.edu	37	6	42957400	42957400	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:42957400G>A	ENST00000485511.1	+	2	258	c.79G>A	c.(79-81)Gat>Aat	p.D27N	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.D27N|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.D27N	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	27					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCGGGCAAGGATGGTGGAGG	0.542																																					Melanoma(63;587 1613 29742 31770)												0													78.0	72.0	74.0					6																	42957400		2203	4300	6503	SO:0001583	missense	5528			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.79G>A	6.37:g.42957400G>A	ENSP00000417963:p.Asp27Asn		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D27N	ENST00000485511.1	37	c.79	CCDS4878.1	6	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138308	0.56936	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	T;T;T	0.47869	0.95;0.83;0.85	5.82	4.95	0.65309	.	38.610700	0.00166	N	0.000000	T	0.39436	0.1078	N	0.08118	0	0.80722	D	1	D;B	0.63880	0.993;0.299	D;B	0.68192	0.956;0.125	T	0.27673	-1.0067	10	0.66056	D	0.02	-19.2555	10.8326	0.46669	0.0862:0.0:0.9138:0.0	.	27;27	Q14738;Q14738-2	2A5D_HUMAN;.	N	27	ENSP00000417963:D27N;ENSP00000377669:D27N;ENSP00000420550:D27N	ENSP00000230402:D27N	D	+	1	0	PPP2R5D	43065378	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.760000	0.62235	1.484000	0.48361	0.655000	0.94253	GAT	PPP2R5D	-	pirsf_PP2A_B56		0.542	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	G	NM_006245		42957400	+1	no_errors	ENST00000485511	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM2	7799	genome.wustl.edu	37	1	14106831	14106831	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:14106831C>G	ENST00000235372.7	+	8	3397	c.2541C>G	c.(2539-2541)gtC>gtG	p.V847V	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.V646V|PRDM2_ENST00000311066.5_Silent_p.V847V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V646V|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	847					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGGAATCTGTCTTAGATCTCA	0.458																																																	0													92.0	88.0	90.0					1																	14106831		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2541C>G	1.37:g.14106831C>G			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.V847	ENST00000235372.7	37	c.2541	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.458	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14106831	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent	SNP	0.023	G
PRKDC	5591	genome.wustl.edu	37	8	48777246	48777246	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:48777246G>A	ENST00000314191.2	-	42	5495	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	PRKDC_ENST00000338368.3_Silent_p.F1813F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1814					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTGGCGTGTGAAACTTAGGC	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													58.0	62.0	61.0					8																	48777246		1976	4152	6128	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5439C>T	8.37:g.48777246G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.F1813	ENST00000314191.2	37	c.5439		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48777246	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.027	A
PRKG2	5593	genome.wustl.edu	37	4	82056354	82056354	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr4:82056354C>T	ENST00000395578.1	-	14	1847	c.1731G>A	c.(1729-1731)ttG>ttA	p.L577L	PRKG2_ENST00000418486.2_Silent_p.L548L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Silent_p.L157L|PRKG2_ENST00000264399.1_Silent_p.L577L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTGGTTTCAAGTCTCTGT	0.408																																																	0													132.0	129.0	130.0					4																	82056354		2203	4300	6503	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1731G>A	4.37:g.82056354C>T			B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L577	ENST00000395578.1	37	c.1731	CCDS3589.1	4																																																																																			PRKG2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.408	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82056354	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	silent	SNP	0.998	T
PURG	29942	genome.wustl.edu	37	8	30889857	30889857	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:30889857T>A	ENST00000475541.1	-	1	1374	c.442A>T	c.(442-444)Agg>Tgg	p.R148W	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R148W	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	148						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTCTGCCTCCTTCTGGAGCCT	0.577																																																	0													79.0	84.0	83.0					8																	30889857		2203	4300	6503	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.442A>T	8.37:g.30889857T>A	ENSP00000418721:p.Arg148Trp		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R148W	ENST00000475541.1	37	c.442	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696937	0.48202	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.26223	1.75;1.76	5.11	3.97	0.46021	.	0.085608	0.40064	N	0.001195	T	0.24586	0.0596	N	0.22421	0.69	0.41162	D	0.986104	D;D	0.61697	0.986;0.99	P;P	0.54590	0.756;0.726	T	0.02064	-1.1220	10	0.46703	T	0.11	.	6.987	0.24733	0.0:0.0806:0.1509:0.7684	.	148;148	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	W	148	ENSP00000345168:R148W;ENSP00000418721:R148W	ENSP00000345168:R148W	R	-	1	2	PURG	31009399	1.000000	0.71417	0.890000	0.34922	0.264000	0.26372	2.384000	0.44362	1.902000	0.55061	0.533000	0.62120	AGG	PURG	-	pfam_PUR_DNA_RNA-bd		0.577	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	T	NM_013357		30889857	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.995	A
RAB33A	9363	genome.wustl.edu	37	X	129306117	129306117	+	Silent	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:129306117G>T	ENST00000257017.4	+	1	495	c.81G>T	c.(79-81)tcG>tcT	p.S27S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	27					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCGACTCGTCGCTGGACCAGT	0.652																																																	0													58.0	46.0	50.0					X																	129306117		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.81G>T	X.37:g.129306117G>T			Q5JUZ6|Q92465	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S27	ENST00000257017.4	37	c.81	CCDS14621.1	X																																																																																			RAB33A	-	NULL		0.652	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	G	NM_004794		129306117	+1	no_errors	ENST00000257017	ensembl	human	known	70_37	silent	SNP	0.988	T
RAB33A	9363	genome.wustl.edu	37	X	129306267	129306267	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chrX:129306267C>T	ENST00000257017.4	+	1	645	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	77					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGAAGACCGTGGAAATCG	0.622																																																	0													81.0	67.0	72.0					X																	129306267		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.231C>T	X.37:g.129306267C>T			Q5JUZ6|Q92465	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T77	ENST00000257017.4	37	c.231	CCDS14621.1	X																																																																																			RAB33A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.622	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	C	NM_004794		129306267	+1	no_errors	ENST00000257017	ensembl	human	known	70_37	silent	SNP	0.958	T
RALGDS	5900	genome.wustl.edu	37	9	135973839	135973839	+	3'UTR	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:135973839C>T	ENST00000372050.3	-	0	2901				RALGDS_ENST00000372047.3_3'UTR|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_3'UTR|RALGDS_ENST00000393160.3_3'UTR|RALGDS_ENST00000393157.3_3'UTR|RALGDS_ENST00000542690.1_3'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ATCCCAGCAGCGGGAGAGGTT	0.627			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0																																										SO:0001624	3_prime_UTR_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.*135G>A	9.37:g.135973839C>T			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	RNA	SNP	-	NULL	ENST00000372050.3	37	NULL	CCDS6959.1	9																																																																																			RALGDS	-	-		0.627	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	C	NM_006266		135973839	-1	no_errors	ENST00000469972	ensembl	human	known	70_37	rna	SNP	0.058	T
RHOD	29984	genome.wustl.edu	37	11	66838947	66838947	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:66838947C>T	ENST00000308831.2	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHOD_ENST00000532559.1_Silent_p.L103L	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	169					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGGCCTACCTCGAGTGCTCGG	0.687																																																	0													35.0	33.0	34.0					11																	66838947		2199	4291	6490	SO:0001819	synonymous_variant	29984			D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.507C>T	11.37:g.66838947C>T				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L169	ENST00000308831.2	37	c.507	CCDS8155.1	11																																																																																			RHOD	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.687	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOD	HGNC	protein_coding	OTTHUMT00000393136.1	C	NM_014578		66838947	+1	no_errors	ENST00000308831	ensembl	human	known	70_37	silent	SNP	0.759	T
SCAI	286205	genome.wustl.edu	37	9	127738408	127738408	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:127738408G>C	ENST00000336505.6	-	15	1442	c.1384C>G	c.(1384-1386)Cca>Gca	p.P462A	SCAI_ENST00000373549.4_Missense_Mutation_p.P485A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	462					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AAAGCTTTTGGATATGCTGTA	0.338																																																	0													100.0	99.0	99.0					9																	127738408		1841	4084	5925	SO:0001583	missense	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1384C>G	9.37:g.127738408G>C	ENSP00000336756:p.Pro462Ala		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.P485A	ENST00000336505.6	37	c.1453	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160195	0.78226	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.52295	0.67;0.68	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.87269	2.87	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.987	T	0.78892	-0.2025	10	0.66056	D	0.02	-10.0838	17.2222	0.86960	0.0:0.0:1.0:0.0	.	462;485	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	A	462;485	ENSP00000336756:P462A;ENSP00000362650:P485A	ENSP00000336756:P462A	P	-	1	0	SCAI	126778229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.879000	0.92398	2.297000	0.77311	0.491000	0.48974	CCA	SCAI	-	pfam_DUF3550,pirsf_UCP013022		0.338	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	G	NM_173690		127738408	-1	no_errors	ENST00000373549	ensembl	human	known	70_37	missense	SNP	1.000	C
SERPINA3	12	genome.wustl.edu	37	14	95081110	95081110	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:95081110C>T	ENST00000467132.1	+	2	1480	c.332C>T	c.(331-333)tCt>tTt	p.S111F	SERPINA3_ENST00000393078.3_Missense_Mutation_p.S111F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S111F|SERPINA3_ENST00000482740.1_5'Flank|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	111					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGGAGACTTCTGAGGCAGAA	0.537																																																	0													63.0	64.0	64.0					14																	95081110		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.332C>T	14.37:g.95081110C>T	ENSP00000450540:p.Ser111Phe		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S136F	ENST00000467132.1	37	c.407	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128152	0.37533	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.03	4.12	0.48240	Serpin domain (3);	0.916289	0.09304	N	0.820464	D	0.91815	0.7410	M	0.62209	1.925	0.09310	N	1	D;D	0.61080	0.989;0.962	P;P	0.57679	0.825;0.675	T	0.81660	-0.0832	10	0.72032	D	0.01	.	10.2579	0.43408	0.1613:0.7008:0.1378:0.0	.	111;136	P01011;G3V5I3	AACT_HUMAN;.	F	136;111;111;111;111	ENSP00000452367:S136F;ENSP00000376793:S111F;ENSP00000376795:S111F;ENSP00000450540:S111F	ENSP00000376793:S111F	S	+	2	0	SERPINA3	94150863	0.000000	0.05858	0.002000	0.10522	0.309000	0.27889	0.644000	0.24766	1.188000	0.43014	0.561000	0.74099	TCT	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.537	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	C	NM_001085		95081110	+1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.001	T
SHC2	25759	genome.wustl.edu	37	19	422299	422299	+	Silent	SNP	G	G	A	rs375069437		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:422299G>A	ENST00000264554.6	-	11	1466	c.1467C>T	c.(1465-1467)caC>caT	p.H489H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	489	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCCGGCCGTGGTACCAGG	0.697																																																	0										0,4186		0,0,2093	12.0	15.0	14.0		1467	-4.4	1.0	19		14	1,8413		0,1,4206	no	coding-synonymous	SHC2	NM_012435.2		0,1,6299	AA,AG,GG		0.0119,0.0,0.0079		489/583	422299	1,12599	2093	4207	6300	SO:0001819	synonymous_variant	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1467C>T	19.37:g.422299G>A			O60230|Q9NPL5|Q9UCX4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.H489	ENST00000264554.6	37	c.1467	CCDS45891.1	19																																																																																			SHC2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.697	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	G			422299	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	silent	SNP	0.972	A
SHISA9	729993	genome.wustl.edu	37	16	13328988	13328988	+	Missense_Mutation	SNP	C	C	G	rs537711553		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:13328988C>G	ENST00000424107.3	+	5	1442	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	SHISA9_ENST00000558583.1_Missense_Mutation_p.P374A			B4DS77	SHSA9_HUMAN	shisa family member 9	333					regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202)				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						GGAGGACGAGCCCCGGGCCTT	0.607																																																	0													99.0	125.0	117.0					16																	13328988		692	1591	2283	SO:0001583	missense	729993				CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2	16p13.12	2013-07-31	2013-07-31		ENSG00000237515	ENSG00000237515		"""Shisa homologs"""	37231	protein-coding gene	gene with protein product		613346	"""shisa homolog 9 (Xenopus laevis)"""				Standard	NM_001145205		Approved		uc010uyy.2	B4DS77	OTTHUMG00000154258	ENST00000424107.3:c.997C>G	16.37:g.13328988C>G	ENSP00000407958:p.Pro333Ala		C9J314|C9JCE9	Missense_Mutation	SNP	NULL	p.P374A	ENST00000424107.3	37	c.1120	CCDS45417.2	16	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624493	0.66901	.	.	ENSG00000237515	ENST00000424107	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	T	0.55497	0.1924	L	0.52573	1.65	0.80722	D	1	B	0.21381	0.055	B	0.14578	0.011	T	0.54569	-0.8274	8	0.40728	T	0.16	.	13.0859	0.59140	0.0:1.0:0.0:0.0	.	333	B4DS77	SHSA9_HUMAN	A	374	.	ENSP00000407958:P374A	P	+	1	0	SHISA9	13236489	1.000000	0.71417	0.994000	0.49952	0.659000	0.38960	2.338000	0.43957	2.148000	0.66965	0.555000	0.69702	CCC	SHISA9	-	NULL		0.607	SHISA9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHISA9	HGNC	protein_coding	OTTHUMT00000334564.5	C	NM_001145204		13328988	+1	no_errors	ENST00000558583	ensembl	human	known	70_37	missense	SNP	1.000	G
SIGMAR1	10280	genome.wustl.edu	37	9	34636875	34636875	+	Intron	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr9:34636875G>T	ENST00000277010.4	-	3	519				SIGMAR1_ENST00000378892.1_Intron|SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000461426.1_Intron	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1						cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GGAGGGTGGAGGAAGGGAACC	0.552																																																	0																																										SO:0001627	intron_variant	10280			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.445+118C>A	9.37:g.34636875G>T			D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	RNA	SNP	-	NULL	ENST00000277010.4	37	NULL	CCDS6562.1	9																																																																																			SIGMAR1	-	-		0.552	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	HGNC	protein_coding	OTTHUMT00000052204.1	G	NM_005866		34636875	-1	no_errors	ENST00000478146	ensembl	human	known	70_37	rna	SNP	0.001	T
SLC22A6	9356	genome.wustl.edu	37	11	62752073	62752073	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr11:62752073C>T	ENST00000377871.3	-	1	356	c.90G>A	c.(88-90)ctG>ctA	p.L30L	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Silent_p.L30L|SLC22A6_ENST00000458333.2_Silent_p.L30L|SLC22A6_ENST00000360421.4_Silent_p.L30L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	30					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGAAGCCATCAGGAGCAGGG	0.647																																																	0													40.0	40.0	40.0					11																	62752073		2200	4298	6498	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.90G>A	11.37:g.62752073C>T			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L30	ENST00000377871.3	37	c.90	CCDS31591.1	11																																																																																			SLC22A6	-	tigrfam_Orgcat_transp		0.647	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62752073	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	silent	SNP	1.000	T
MIEF1	54471	genome.wustl.edu	37	22	39910172	39910172	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:39910172G>C	ENST00000325301.2	+	6	1660	c.1236G>C	c.(1234-1236)ttG>ttC	p.L412F	MIEF1_ENST00000404569.1_Missense_Mutation_p.L412F|MIEF1_ENST00000402881.1_Missense_Mutation_p.L412F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	412					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TGCAGGCCTTGAGGGGACTTA	0.552											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91.0	90.0	90.0					22																	39910172		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1236G>C	22.37:g.39910172G>C	ENSP00000327124:p.Leu412Phe	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.L412F	ENST00000325301.2	37	c.1236	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153008	0.57259	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.15256	2.44;2.44;2.44	6.07	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.61218	1.895	0.49798	D	0.999825	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.42430	-0.9452	10	0.42905	T	0.14	-14.3967	19.0806	0.93180	0.0:0.4313:0.5686:0.0	.	412;412	Q9NQG6;B0QY95	MID51_HUMAN;.	F	412	ENSP00000385110:L412F;ENSP00000327124:L412F;ENSP00000385191:L412F	ENSP00000327124:L412F	L	+	3	2	SMCR7L	38240118	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	2.002000	0.40835	0.826000	0.34661	0.655000	0.94253	TTG	SMCR7L	-	NULL		0.552	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	G	NM_019008		39910172	+1	no_errors	ENST00000325301	ensembl	human	known	70_37	missense	SNP	0.996	C
SNRPD2	6633	genome.wustl.edu	37	19	46190854	46190854	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:46190854G>A	ENST00000342669.3	-	3	758	c.314C>T	c.(313-315)tCa>tTa	p.S105L	SNRPD2_ENST00000587367.1_Missense_Mutation_p.S95L|SNRPD2_ENST00000588301.1_Missense_Mutation_p.S105L|SNRPD2_ENST00000585392.1_Missense_Mutation_p.S41L|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000391932.3_Missense_Mutation_p.S95L|SNRPD2_ENST00000588599.1_Missense_Mutation_p.S95L	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	105					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CACGATGACTGAGTCCCCGCG	0.567																																																	0													126.0	102.0	110.0					19																	46190854		2203	4300	6503	SO:0001583	missense	6633				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.314C>T	19.37:g.46190854G>A	ENSP00000342374:p.Ser105Leu		A8K797|J3KPM5|P43330	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.S105L	ENST00000342669.3	37	c.314	CCDS33053.1	19	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780415	0.70222	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	T;T	0.47869	0.83;0.83	5.92	5.92	0.95590	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.274060	0.37053	N	0.002268	T	0.57770	0.2076	M	0.90425	3.115	0.80722	D	1	B	0.27997	0.197	B	0.29663	0.105	T	0.62220	-0.6900	10	0.66056	D	0.02	.	13.4067	0.60917	0.0:0.1574:0.8426:0.0	.	105	P62316	SMD2_HUMAN	L	105;95	ENSP00000342374:S105L;ENSP00000375798:S95L	ENSP00000342374:S105L	S	-	2	0	SNRPD2	50882694	1.000000	0.71417	0.977000	0.42913	0.935000	0.57460	6.979000	0.76154	2.804000	0.96469	0.655000	0.94253	TCA	SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.567	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	G	NM_004597		46190854	-1	no_errors	ENST00000342669	ensembl	human	known	70_37	missense	SNP	0.998	A
ST6GAL1	6480	genome.wustl.edu	37	3	186760543	186760543	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:186760543C>T	ENST00000169298.3	+	4	726	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.L18F	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	18					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCTGGTCTTTCTTCTGTTTGC	0.408																																																	0													161.0	158.0	159.0					3																	186760543		2203	4300	6503	SO:0001583	missense	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.52C>T	3.37:g.186760543C>T	ENSP00000169298:p.Leu18Phe		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L18F	ENST00000169298.3	37	c.52	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462421	0.26248	.	.	ENSG00000073849	ENST00000169298;ENST00000458216;ENST00000430309;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000440338;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.28895	1.59;1.59	5.44	3.3	0.37823	.	0.378164	0.28077	N	0.016688	T	0.30230	0.0758	M	0.72894	2.215	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.14282	-1.0478	10	0.72032	D	0.01	-30.0123	6.1191	0.20144	0.0:0.6887:0.1909:0.1204	.	18	P15907	SIAT1_HUMAN	F	18	ENSP00000169298:L18F;ENSP00000389337:L18F	ENSP00000169298:L18F	L	+	1	0	ST6GAL1	188243237	0.541000	0.26417	0.999000	0.59377	0.516000	0.34256	0.129000	0.15830	0.678000	0.31325	0.561000	0.74099	CTT	ST6GAL1	-	pirsf_Sialyl_trans		0.408	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	C	NM_173216		186760543	+1	no_errors	ENST00000169298	ensembl	human	known	70_37	missense	SNP	1.000	T
SULF1	23213	genome.wustl.edu	37	8	70553066	70553066	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:70553066G>A	ENST00000260128.4	+	22	3292	c.2575G>A	c.(2575-2577)Gac>Aac	p.D859N	SULF1_ENST00000402687.4_Missense_Mutation_p.D859N|SULF1_ENST00000419716.3_Missense_Mutation_p.D859N|SULF1_ENST00000458141.2_Missense_Mutation_p.D859N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	859					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGAAGCTATGACCTACACAG	0.333																																																	0													91.0	86.0	88.0					8																	70553066		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2575G>A	8.37:g.70553066G>A	ENSP00000260128:p.Asp859Asn		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.D859N	ENST00000260128.4	37	c.2575	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066032	0.76187	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	L	0.56769	1.78	0.58432	D	0.99999	B	0.31383	0.321	B	0.31946	0.138	D	0.96485	0.9359	10	0.56958	D	0.05	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	859	Q8IWU6	SULF1_HUMAN	N	859	ENSP00000403040:D859N;ENSP00000260128:D859N;ENSP00000385704:D859N;ENSP00000390315:D859N	ENSP00000260128:D859N	D	+	1	0	SULF1	70715620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.985000	0.93487	2.941000	0.99782	0.655000	0.94253	GAC	SULF1	-	pirsf_Extracellular_sulfatase		0.333	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	G	NM_015170		70553066	+1	no_errors	ENST00000260128	ensembl	human	known	70_37	missense	SNP	1.000	A
SYT4	6860	genome.wustl.edu	37	18	40850554	40850554	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr18:40850554G>A	ENST00000255224.3	-	4	1398	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y	SYT4_ENST00000590752.1_Missense_Mutation_p.H326Y|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	344	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCTTCACATGAGTCTTCTTC	0.408																																					NSCLC(85;81 1419 2855 22820 35912)												0													102.0	105.0	104.0					18																	40850554		2203	4300	6503	SO:0001583	missense	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1030C>T	18.37:g.40850554G>A	ENSP00000255224:p.His344Tyr		B4DEU3|Q9P2K4	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.H344Y	ENST00000255224.3	37	c.1030	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276110	0.80580	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.69040	-0.37	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.90082	3.085	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	D	0.87595	0.2493	10	0.59425	D	0.04	.	19.5717	0.95423	0.0:0.0:1.0:0.0	.	326;344	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Y	344;149	ENSP00000255224:H344Y	ENSP00000255224:H344Y	H	-	1	0	SYT4	39104552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.644000	0.89710	0.655000	0.94253	CAT	SYT4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.408	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40850554	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	missense	SNP	1.000	A
T	6862	genome.wustl.edu	37	6	166580205	166580205	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:166580205C>G	ENST00000296946.2	-	3	814	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	T_ENST00000366871.3_Missense_Mutation_p.E116Q	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	116					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E116fs*49(1)|p.E116Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCCTGCGGCTCCGGCTTGCCC	0.652									Chordoma, Familial Clustering of																																								2	Substitution - Missense(1)|Deletion - Frameshift(1)	lung(1)|autonomic_ganglia(1)											46.0	50.0	49.0					6																	166580205		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.346G>C	6.37:g.166580205C>G	ENSP00000296946:p.Glu116Gln		E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.E116Q	ENST00000296946.2	37	c.346	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.291754	0.95546	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.90504	-2.68;-2.68;-2.68	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	M	0.90309	3.105	0.58432	D	0.999996	D;D;P	0.89917	1.0;0.995;0.887	D;P;P	0.91635	0.999;0.878;0.668	D	0.96379	0.9280	10	0.66056	D	0.02	.	16.8408	0.85968	0.0:1.0:0.0:0.0	.	116;116;116	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	Q	116	ENSP00000355841:E116Q;ENSP00000296946:E116Q;ENSP00000355836:E116Q	ENSP00000296946:E116Q	E	-	1	0	T	166500195	1.000000	0.71417	0.710000	0.30468	0.993000	0.82548	7.243000	0.78219	2.290000	0.77057	0.655000	0.94253	GAG	T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury		0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	C	NM_003181		166580205	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.057	G
TARSL2	123283	genome.wustl.edu	37	15	102201989	102201989	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:102201989C>T	ENST00000335968.3	-	16	2214	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	666					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATGAATGATCACAGGTCTCT	0.323																																																	0													60.0	59.0	60.0					15																	102201989		2203	4299	6502	SO:0001819	synonymous_variant	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1998G>A	15.37:g.102201989C>T			B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.V666	ENST00000335968.3	37	c.1998	CCDS10394.1	15																																																																																			TARSL2	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.323	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102201989	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	silent	SNP	1.000	T
TBC1D10A	83874	genome.wustl.edu	37	22	30722748	30722748	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.L41L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731																																																	0													25.0	31.0	29.0					22																	30722748		2202	4292	6494	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.123C>T	22.37:g.30722748G>A			B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L41	ENST00000215790.7	37	c.123	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.731	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	G	NM_031937		30722748	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	0.964	A
TCTE1	202500	genome.wustl.edu	37	6	44249874	44249874	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:44249874G>C	ENST00000371505.4	-	4	1391	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	423										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGACAGGTTGATGCTGGTGA	0.582																																																	0													107.0	85.0	93.0					6																	44249874		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1269C>G	6.37:g.44249874G>C	ENSP00000360560:p.Ile423Met		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I423M	ENST00000371505.4	37	c.1269	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336327	0.41398	.	.	ENSG00000146221	ENST00000371505	T	0.55588	0.51	5.28	4.41	0.53225	.	0.376246	0.29846	N	0.011047	T	0.50871	0.1641	M	0.66560	2.04	0.80722	D	1	D	0.54601	0.967	P	0.55222	0.771	T	0.56589	-0.7954	10	0.54805	T	0.06	-30.5586	9.8179	0.40865	0.074:0.1394:0.7867:0.0	.	423	Q5JU00	TCTE1_HUMAN	M	423	ENSP00000360560:I423M	ENSP00000360560:I423M	I	-	3	3	TCTE1	44357852	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.192000	0.50989	1.388000	0.46506	0.505000	0.49811	ATC	TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	G	NM_182539		44249874	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	1.000	C
THPO	7066	genome.wustl.edu	37	3	184090787	184090787	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr3:184090787C>G	ENST00000204615.7	-	6	790	c.576G>C	c.(574-576)ctG>ctC	p.L192L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Silent_p.L188L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	192					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGCTCGTTCAGTGTGAGGA	0.572																																																	0													81.0	84.0	83.0					3																	184090787		2203	4300	6503	SO:0001819	synonymous_variant	7066				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.576G>C	3.37:g.184090787C>G			A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.L192	ENST00000204615.7	37	c.576	CCDS3265.1	3																																																																																			THPO	-	NULL		0.572	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	C	NM_000460		184090787	-1	no_errors	ENST00000204615	ensembl	human	known	70_37	silent	SNP	0.452	G
TRMT11	60487	genome.wustl.edu	37	6	126359936	126359936	+	Missense_Mutation	SNP	G	G	T	rs577359033		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr6:126359936G>T	ENST00000334379.5	+	13	1467	c.1346G>T	c.(1345-1347)gGg>gTg	p.G449V	TRMT11_ENST00000368332.3_Missense_Mutation_p.G444V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	449					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TATTTTAGTGGGGTAACAAAA	0.343																																																	0													79.0	86.0	83.0					6																	126359936		2203	4299	6502	SO:0001583	missense	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1346G>T	6.37:g.126359936G>T	ENSP00000333934:p.Gly449Val		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.G449V	ENST00000334379.5	37	c.1346	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123302	0.56613	.	.	ENSG00000066651	ENST00000334379;ENST00000368332	T;T	0.50277	0.75;0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.85630	2.765	0.80722	D	1	P;D	0.89917	0.928;1.0	P;D	0.74674	0.595;0.984	T	0.71906	-0.4451	10	0.59425	D	0.04	-14.8284	20.327	0.98704	0.0:0.0:1.0:0.0	.	444;449	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	V	449;444	ENSP00000333934:G449V;ENSP00000357316:G444V	ENSP00000333934:G449V	G	+	2	0	TRMT11	126401629	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	6.778000	0.75043	2.794000	0.96219	0.650000	0.86243	GGG	TRMT11	-	pirsf_tRNA_mtfrase_TRM11		0.343	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		G	NM_021820		126359936	+1	no_errors	ENST00000334379	ensembl	human	known	70_37	missense	SNP	0.997	T
TROAP	10024	genome.wustl.edu	37	12	49725173	49725173	+	Missense_Mutation	SNP	G	G	C	rs561170792		TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr12:49725173G>C	ENST00000257909.3	+	14	2351	c.2275G>C	c.(2275-2277)Gaa>Caa	p.E759Q	TROAP_ENST00000551245.1_Missense_Mutation_p.E849Q|TROAP_ENST00000547923.1_Missense_Mutation_p.E438Q	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	759					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50.0	48.0	49.0					12																	49725173		2203	4300	6503	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2275G>C	12.37:g.49725173G>C	ENSP00000257909:p.Glu759Gln	964	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.E759Q	ENST00000257909.3	37	c.2275	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932997	0.73442	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	5.04	0.67666	.	0.201112	0.34245	N	0.004128	T	0.58821	0.2149	L	0.47190	1.495	0.30835	N	0.736282	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.67382	0.951;0.934;0.929	T	0.63954	-0.6520	9	0.87932	D	0	-4.9004	11.1817	0.48631	0.0843:0.0:0.9157:0.0	.	849;438;759	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	Q	849;759;438	.	ENSP00000257909:E759Q	E	+	1	0	TROAP	48011440	0.999000	0.42202	0.847000	0.33407	0.985000	0.73830	3.780000	0.55386	1.522000	0.49001	0.561000	0.74099	GAA	TROAP	-	NULL		0.642	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49725173	+1	no_errors	ENST00000257909	ensembl	human	known	70_37	missense	SNP	0.948	C
TRRAP	8295	genome.wustl.edu	37	7	98557093	98557093	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:98557093G>A	ENST00000359863.4	+	44	6657	c.6448G>A	c.(6448-6450)Gac>Aac	p.D2150N	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2132N|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2131N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2150	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGTGGTTCGACAAGCTGCT	0.612																																																	0													133.0	99.0	110.0					7																	98557093		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6448G>A	7.37:g.98557093G>A	ENSP00000352925:p.Asp2150Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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.D2150N	ENST00000359863.4	37	c.6448	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.800961	0.96960	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65364	-0.15;-0.15	5.55	5.55	0.83447	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.69824	0.966;0.878;0.82	T	0.78450	-0.2199	10	0.72032	D	0.01	.	19.4993	0.95086	0.0:0.0:1.0:0.0	.	2132;1871;2150	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	N	2150;2132;2130	ENSP00000352925:D2150N;ENSP00000347733:D2132N	ENSP00000347733:D2132N	D	+	1	0	TRRAP	98395029	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.739000	0.98837	2.600000	0.87896	0.655000	0.94253	GAC	TRRAP	-	superfamily_ARM-type_fold		0.612	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98557093	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2108835	2108835	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:2108835C>T	ENST00000219476.3	+	10	1566	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TSC2_ENST00000350773.4_Silent_p.L312L|TSC2_ENST00000353929.4_Silent_p.L312L|TSC2_ENST00000401874.2_Silent_p.L312L|TSC2_ENST00000568454.1_Silent_p.L323L|TSC2_ENST00000382538.6_Silent_p.L263L|TSC2_ENST00000439673.2_Silent_p.L275L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	312	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTATTCTCTCAGGAACTCGC	0.582			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													64.0	54.0	58.0					16																	2108835		2196	4298	6494	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.936C>T	16.37:g.2108835C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L312	ENST00000219476.3	37	c.936	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.582	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2108835	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179479455	179479455	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:179479455C>T	ENST00000591111.1	-	211	44087	c.43863G>A	c.(43861-43863)gtG>gtA	p.V14621V	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V7389V|TTN_ENST00000342992.6_Silent_p.V13694V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.V16262V|TTN_ENST00000460472.2_Silent_p.V7197V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.V7322V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14621	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGGAGCTTCACATCGAGGA	0.423																																																	0													65.0	56.0	59.0					2																	179479455		1833	4094	5927	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43863G>A	2.37:g.179479455C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13694	ENST00000591111.1	37	c.41082		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179479455	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TXNDC16	57544	genome.wustl.edu	37	14	52957624	52957624	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:52957624C>A	ENST00000281741.4	-	10	1227	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	286					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTTCTTCTATCAGCTTCATAA	0.403																																																	0													106.0	108.0	107.0					14																	52957624		2203	4300	6503	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.856G>T	14.37:g.52957624C>A	ENSP00000281741:p.Asp286Tyr		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.D286Y	ENST00000281741.4	37	c.856	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451218	0.63290	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.69823	2.125	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43507	-0.9387	10	0.72032	D	0.01	.	12.3231	0.54995	0.0:0.9173:0.0:0.0827	.	281;286	B7ZME4;Q9P2K2	.;TXD16_HUMAN	Y	286	ENSP00000281741:D286Y	ENSP00000281741:D286Y	D	-	1	0	TXNDC16	52027374	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.958000	0.63660	1.436000	0.47453	-0.136000	0.14681	GAT	TXNDC16	-	NULL		0.403	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	C	XM_051699		52957624	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	1.000	A
VWA5B1	127731	genome.wustl.edu	37	1	20669844	20669844	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr1:20669844G>A	ENST00000375079.2	+	16	2780	c.2584G>A	c.(2584-2586)Gac>Aac	p.D862N	VWA5B1_ENST00000289815.8_Missense_Mutation_p.D862N|VWA5B1_ENST00000525343.1_3'UTR|VWA5B1_ENST00000375083.4_Missense_Mutation_p.D862N	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	862						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						CATCATCCGCGACTTCGAGCA	0.736																																																	0													7.0	13.0	11.0					1																	20669844		675	1573	2248	SO:0001583	missense	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2584G>A	1.37:g.20669844G>A	ENSP00000364220:p.Asp862Asn		A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D862N	ENST00000375079.2	37	c.2584		1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.265391	0.80358	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	T;T;T	0.77877	-1.13;-1.13;-1.13	4.01	3.06	0.35304	.	0.366160	0.26808	N	0.022394	T	0.78997	0.4372	L	0.45352	1.415	0.80722	D	1	D;P;P	0.65815	0.995;0.921;0.681	P;B;B	0.56612	0.802;0.387;0.181	T	0.78743	-0.2085	10	0.66056	D	0.02	-1.7687	11.3314	0.49479	0.0:0.0:0.8161:0.1839	.	862;862;862	Q5TIE3;Q5TIE3-5;Q5TIE3-2	VW5B1_HUMAN;.;.	N	862	ENSP00000289815:D862N;ENSP00000364224:D862N;ENSP00000364220:D862N	ENSP00000289815:D862N	D	+	1	0	VWA5B1	20542431	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	7.036000	0.76524	0.620000	0.30215	0.165000	0.16767	GAC	VWA5B1	-	NULL		0.736	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	G	XM_001722222		20669844	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	1.000	A
WBP4	11193	genome.wustl.edu	37	13	41639317	41639317	+	Silent	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr13:41639317G>A	ENST00000379487.3	+	4	556	c.156G>A	c.(154-156)ctG>ctA	p.L52L	WBP4_ENST00000542082.1_Silent_p.L31L	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	52					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AGAAAAGCCTGGATAAGGCAA	0.368																																																	0													73.0	79.0	77.0					13																	41639317		2203	4300	6503	SO:0001819	synonymous_variant	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.156G>A	13.37:g.41639317G>A			B7Z4M2|Q32P29	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin	p.L52	ENST00000379487.3	37	c.156	CCDS9375.1	13																																																																																			WBP4	-	NULL		0.368	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	G	NM_007187		41639317	+1	no_errors	ENST00000379487	ensembl	human	known	70_37	silent	SNP	1.000	A
WDPCP	51057	genome.wustl.edu	37	2	63486499	63486499	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr2:63486499C>T	ENST00000272321.7	-	14	2385	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	WDPCP_ENST00000409562.3_Intron|WDPCP_ENST00000409199.1_Missense_Mutation_p.E428K|WDPCP_ENST00000409120.1_Missense_Mutation_p.E428K|WDPCP_ENST00000398544.3_Missense_Mutation_p.E461K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	620					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTTGCCACTTCAGCTAGTGCC	0.338																																																	0													140.0	134.0	136.0					2																	63486499		1828	4082	5910	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1858G>A	2.37:g.63486499C>T	ENSP00000272321:p.Glu620Lys		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.E620K	ENST00000272321.7	37	c.1858	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753269	0.31046	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.42	5.42	0.78866	.	0.143817	0.45606	D	0.000360	T	0.26991	0.0661	N	0.12182	0.205	0.80722	D	1	B;P	0.35155	0.064;0.487	B;B	0.39503	0.021;0.301	T	0.09574	-1.0668	10	0.13108	T	0.6	-13.0249	12.5442	0.56190	0.0:0.9237:0.0:0.0763	.	620;461	O95876;O95876-3	FRITZ_HUMAN;.	K	620;428;428;461	ENSP00000272321:E620K;ENSP00000386592:E428K;ENSP00000386769:E428K;ENSP00000381552:E461K	ENSP00000272321:E620K	E	-	1	0	WDPCP	63340003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.364000	0.59479	2.545000	0.85829	0.591000	0.81541	GAA	WDPCP	-	pfam_DUF3312		0.338	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	C	NM_015910		63486499	-1	no_errors	ENST00000272321	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX2	85446	genome.wustl.edu	37	14	23994363	23994363	+	Silent	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr14:23994363C>T	ENST00000419474.3	-	9	5143	c.4788G>A	c.(4786-4788)cgG>cgA	p.R1596R	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1596					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						TTCTGGAGAACCGGCGGCCGG	0.592																																																	0																																										SO:0001819	synonymous_variant	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.4788G>A	14.37:g.23994363C>T			Q9UPU6	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R1596	ENST00000419474.3	37	c.4788	CCDS55907.1	14																																																																																			ZFHX2	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.592	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	C	NM_014894		23994363	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	silent	SNP	0.854	T
ZFHX4	79776	genome.wustl.edu	37	8	77767017	77767017	+	Silent	SNP	C	C	G			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr8:77767017C>G	ENST00000521891.2	+	10	8308	c.7860C>G	c.(7858-7860)ctC>ctG	p.L2620L	ZFHX4_ENST00000518282.1_Silent_p.L2594L|ZFHX4_ENST00000050961.6_Silent_p.L2575L|ZFHX4_ENST00000455469.2_Silent_p.L2575L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAATACTCTATGAAAAAT	0.448										HNSCC(33;0.089)																																							0													39.0	39.0	39.0					8																	77767017		1861	4096	5957	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7860C>G	8.37:g.77767017C>G			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L2620	ENST00000521891.2	37	c.7860	CCDS47878.2	8																																																																																			ZFHX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77767017	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.996	G
ZNF208	7757	genome.wustl.edu	37	19	22115997	22115997	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:22115997C>T	ENST00000599916.1	-	5	502	c.348G>A	c.(346-348)atG>atA	p.M116I				O43345	ZN208_HUMAN	zinc finger protein 208	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				gatggtgattcattattggac	0.398																																																	0																																										SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000599916.1:c.348G>A	19.37:g.22115997C>T	ENSP00000469254:p.Met116Ile			Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.M116I	ENST00000599916.1	37	c.348		19																																																																																			ZNF208	-	NULL		0.398	ZNF208-006	PUTATIVE	basic	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464300.1	C	NM_007153		22115997	-1	no_errors	ENST00000599916	ensembl	human	putative	70_37	missense	SNP	0.311	T
ZNF3	7551	genome.wustl.edu	37	7	99669626	99669626	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr7:99669626C>T	ENST00000424697.1	-	6	787	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZNF3_ENST00000303915.6_Missense_Mutation_p.E161K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E161K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	161					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGCTTCTCCTCAACTGTCACT	0.473																																																	0													143.0	138.0	140.0					7																	99669626		1898	4118	6016	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.481G>A	7.37:g.99669626C>T	ENSP00000415358:p.Glu161Lys		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E161K	ENST00000424697.1	37	c.481	CCDS43619.1	7	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134859	0.06711	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683	T;T;T;T;T;T	0.06142	3.34;3.34;3.34;5.32;5.45;5.45	4.71	4.71	0.59529	.	0.271271	0.26800	N	0.022435	T	0.04497	0.0123	N	0.17674	0.51	0.30581	N	0.762485	B;B	0.30763	0.292;0.294	B;B	0.28991	0.097;0.087	T	0.13683	-1.0500	10	0.07030	T	0.85	-9.2926	15.5579	0.76213	0.0:1.0:0.0:0.0	.	144;161	B3KRP4;P17036	.;ZNF3_HUMAN	K	161;161;161;125;161;161	ENSP00000415358:E161K;ENSP00000306372:E161K;ENSP00000299667:E161K;ENSP00000416088:E125K;ENSP00000405970:E161K;ENSP00000388042:E161K	ENSP00000299667:E161K	E	-	1	0	ZNF3	99507562	0.004000	0.15560	0.038000	0.18304	0.125000	0.20455	0.780000	0.26760	2.628000	0.89032	0.591000	0.81541	GAG	ZNF3	-	NULL		0.473	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	C	NM_017715		99669626	-1	no_errors	ENST00000299667	ensembl	human	known	70_37	missense	SNP	0.719	T
ZNF492	57615	genome.wustl.edu	37	19	22847759	22847759	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:22847759T>A	ENST00000456783.2	+	4	1532	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGGCAAAGCTTTTAACCAGTC	0.373																																																	0													21.0	23.0	23.0					19																	22847759		1762	3797	5559	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1288T>A	19.37:g.22847759T>A	ENSP00000413660:p.Phe430Ile		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F430I	ENST00000456783.2	37	c.1288	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	14.86	2.660361	0.47572	.	.	ENSG00000229676	ENST00000456783	T	0.46451	0.87	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67552	0.2905	H	0.94503	3.545	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.55256	-0.8169	9	0.87932	D	0	.	5.8144	0.18484	0.0:0.0:0.0:1.0	.	430	Q9P255	ZN492_HUMAN	I	430	ENSP00000413660:F430I	ENSP00000413660:F430I	F	+	1	0	ZNF492	22639599	0.948000	0.32251	0.020000	0.16555	0.020000	0.10135	3.513000	0.53414	0.231000	0.21079	0.228000	0.17796	TTT	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	T	NM_020855		22847759	+1	no_errors	ENST00000456783	ensembl	human	known	70_37	missense	SNP	0.139	A
ZNF568	374900	genome.wustl.edu	37	19	37441464	37441464	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr19:37441464G>T	ENST00000333987.7	+	7	1915	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.G406V|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G470A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACACTGGAGAGAAACCT	0.398																																																	1	Substitution - Missense(1)	lung(1)											52.0	58.0	56.0					19																	37441464		2203	4300	6503	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1409G>T	19.37:g.37441464G>T	ENSP00000334685:p.Gly470Val		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G470V	ENST00000333987.7	37	c.1409	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757958	0.49468	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.23552	1.9;1.9	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.249770	0.21063	N	0.080781	T	0.49150	0.1540	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53711	-0.8400	10	0.87932	D	0	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	470	Q3ZCX4	ZN568_HUMAN	V	470;406	ENSP00000334685:G470V;ENSP00000394514:G406V	ENSP00000334685:G470V	G	+	2	0	ZNF568	42133304	0.689000	0.27690	1.000000	0.80357	0.792000	0.44763	2.166000	0.42406	2.204000	0.70986	0.467000	0.42956	GGA	ZNF568	-	pfscan_Znf_C2H2		0.398	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	G	NM_198539		37441464	+1	no_errors	ENST00000333987	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF629	23361	genome.wustl.edu	37	16	30794051	30794051	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr16:30794051C>T	ENST00000262525.4	-	3	1805	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			ATGGATCACCCGGTGCTGCTC	0.682																																																	0													21.0	23.0	23.0					16																	30794051		2103	4249	6352	SO:0001583	missense	23361			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1598G>A	16.37:g.30794051C>T	ENSP00000262525:p.Arg533Gln		Q15938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R533Q	ENST00000262525.4	37	c.1598	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	C	1.703	-0.501002	0.04261	.	.	ENSG00000102870	ENST00000262525	T	0.08896	3.04	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000807	T	0.02342	0.0072	N	0.04203	-0.255	0.30785	N	0.741599	P	0.39665	0.682	B	0.24006	0.05	T	0.23190	-1.0195	10	0.02654	T	1	-36.6172	8.9672	0.35883	0.0:0.8427:0.0:0.1573	.	533	Q9UEG4	ZN629_HUMAN	Q	533	ENSP00000262525:R533Q	ENSP00000262525:R533Q	R	-	2	0	ZNF629	30701552	0.605000	0.26941	1.000000	0.80357	0.997000	0.91878	1.068000	0.30629	2.735000	0.93741	0.561000	0.74099	CGG	ZNF629	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	C	NM_015309		30794051	-1	no_errors	ENST00000262525	ensembl	human	known	70_37	missense	SNP	0.998	T
ZWILCH	55055	genome.wustl.edu	37	15	66821259	66821259	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2IP-01A-11D-A17W-09	TCGA-EK-A2IP-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6cfb3918-ae66-4ee9-8cb7-9734a389dbc5	25bb00b5-7c3d-4d0d-9acf-48af557a8094	g.chr15:66821259G>A	ENST00000307897.5	+	11	1419	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	ZWILCH_ENST00000565627.1_Missense_Mutation_p.D233N|ZWILCH_ENST00000535141.2_Missense_Mutation_p.D233N|ZWILCH_ENST00000446801.2_Missense_Mutation_p.D233N	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	347					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAGTGATCTTGATTTTGCTGA	0.393																																																	0													125.0	113.0	117.0					15																	66821259		2201	4299	6500	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1039G>A	15.37:g.66821259G>A	ENSP00000311429:p.Asp347Asn		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.D347N	ENST00000307897.5	37	c.1039	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.293611	0.95546	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.77229	-1.08;-1.08;-1.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89305	0.3629	10	0.87932	D	0	-28.9879	19.3009	0.94144	0.0:0.0:1.0:0.0	.	347	Q9H900	ZWILC_HUMAN	N	347;233;233	ENSP00000311429:D347N;ENSP00000402217:D233N;ENSP00000437749:D233N	ENSP00000311429:D347N	D	+	1	0	ZWILCH	64608313	1.000000	0.71417	0.849000	0.33467	0.799000	0.45148	7.688000	0.84153	2.634000	0.89283	0.456000	0.33151	GAT	ZWILCH	-	pfam_RZZ-complex_zwilch		0.393	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	G	NM_017975		66821259	+1	no_errors	ENST00000307897	ensembl	human	known	70_37	missense	SNP	1.000	A
