#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
AATK	9625	genome.wustl.edu	37	17	79094811	79094811	+	Silent	SNP	G	G	A	rs550286805		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:79094811G>A	ENST00000326724.4	-	11	2949	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	AATK_ENST00000417379.1_Silent_p.P872P	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	975					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCGTGTCTCGGGCCCGGGGC	0.632																																																	0													19.0	22.0	21.0					17																	79094811		1906	4105	6011	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2925C>T	17.37:g.79094811G>A			O75136|Q6ZN31|Q86X28	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P975	ENST00000326724.4	37	c.2925	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019403	0.02078	.	.	ENSG00000181409	ENST00000417379	.	.	.	4.45	-8.9	0.00782	.	0.904525	0.09423	N	0.804123	T	0.20941	0.0504	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26430	-1.0103	6	0.51188	T	0.08	.	0.7629	0.01010	0.3764:0.1569:0.255:0.2117	.	.	.	.	L	928	.	ENSP00000398796:P928L	P	-	2	0	AATK	76709406	0.000000	0.05858	0.006000	0.13384	0.045000	0.14185	-6.190000	0.00076	-1.925000	0.01063	-0.368000	0.07277	CCG	AATK	-	NULL		0.632	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	G	NM_004920		79094811	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	silent	SNP	0.000	A
ADAM22	53616	genome.wustl.edu	37	7	87762260	87762260	+	Silent	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:87762260G>C	ENST00000265727.7	+	12	1150	c.1071G>C	c.(1069-1071)gtG>gtC	p.V357V	ADAM22_ENST00000315984.7_Silent_p.V357V|ADAM22_ENST00000398201.4_Silent_p.V357V|ADAM22_ENST00000398209.3_Silent_p.V357V|ADAM22_ENST00000398204.4_Silent_p.V357V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGAGGCGTGAATGAAGTAG	0.408																																																	0													189.0	201.0	197.0					7																	87762260		2100	4246	6346	SO:0001819	synonymous_variant	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1071G>C	7.37:g.87762260G>C			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V357	ENST00000265727.7	37	c.1071	CCDS47637.1	7																																																																																			ADAM22	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.408	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87762260	+1	no_errors	ENST00000265727	ensembl	human	known	70_37	silent	SNP	1.000	C
ANKRD42	338699	genome.wustl.edu	37	11	82921454	82921454	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:82921454G>T	ENST00000393392.2	+	4	521	c.359G>T	c.(358-360)aGt>aTt	p.S120I	ANKRD42_ENST00000260047.6_Missense_Mutation_p.S148I|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393389.3_Missense_Mutation_p.S148I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.S148I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.S148I|ANKRD42_ENST00000528722.1_Missense_Mutation_p.S35I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.S148I	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	120					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATGCTCCGAAGTGGAGTGGTG	0.408																																																	0													148.0	144.0	145.0					11																	82921454		2203	4300	6503	SO:0001583	missense	338699			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.359G>T	11.37:g.82921454G>T	ENSP00000377051:p.Ser120Ile		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S120I	ENST00000393392.2	37	c.359	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941578	0.73557	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.82526	-0.18;-1.62;-0.18;-0.18;-0.18;-0.18;-0.18	5.89	3.92	0.45320	Ankyrin repeat-containing domain (4);	0.068663	0.64402	D	0.000008	D	0.84647	0.5518	L	0.49571	1.57	0.39922	D	0.974162	P;P;D;P;P	0.56968	0.922;0.73;0.978;0.922;0.922	P;B;P;P;P	0.57846	0.702;0.376;0.828;0.702;0.724	D	0.84254	0.0479	9	.	.	.	-3.621	10.7153	0.46008	0.0729:0.1316:0.7956:0.0	.	148;148;413;239;120	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	I	467;148;35;148;148;148;120;148	ENSP00000377049:S148I;ENSP00000432375:S35I;ENSP00000260047:S148I;ENSP00000433585:S148I;ENSP00000434666:S148I;ENSP00000377051:S120I;ENSP00000435790:S148I	.	S	+	2	0	ANKRD42	82599102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.855000	0.48333	1.491000	0.48482	0.655000	0.94253	AGT	ANKRD42	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.408	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	G	NM_182603		82921454	+1	no_errors	ENST00000393392	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP28	79822	genome.wustl.edu	37	18	6912104	6912104	+	Missense_Mutation	SNP	G	G	A	rs374272304		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr18:6912104G>A	ENST00000383472.4	+	18	2245	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R555H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R550H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R555H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	714					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GATGTATATCGTATAAATCCT	0.373																																																	0								G	HIS/ARG	0,4406		0,0,2203	82.0	79.0	80.0		1664	3.6	0.7	18		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP28	NM_001010000.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	555/571	6912104	1,13005	2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2141G>A	18.37:g.6912104G>A	ENSP00000372964:p.Arg714His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R555H	ENST00000383472.4	37	c.1664		18	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498019	0.26861	0.0	1.16E-4	ENSG00000088756	ENST00000419673;ENST00000531294;ENST00000314319	T;T;T	0.07327	3.2;3.21;3.2	5.96	3.63	0.41609	.	.	.	.	.	T	0.03053	0.0090	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37056	-0.9722	9	0.07325	T	0.83	.	8.1143	0.30933	0.7627:0.0:0.2373:0.0	.	714	Q9P2N2	RHG28_HUMAN	H	555;550;555	ENSP00000392660:R555H;ENSP00000437262:R550H;ENSP00000313506:R555H	ENSP00000313506:R555H	R	+	2	0	ARHGAP28	6902104	1.000000	0.71417	0.729000	0.30791	0.805000	0.45488	0.712000	0.25779	0.526000	0.28541	-0.302000	0.09304	CGT	ARHGAP28	-	NULL		0.373	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	G	XM_371108		6912104	+1	no_errors	ENST00000314319	ensembl	human	known	70_37	missense	SNP	0.739	A
ATR	545	genome.wustl.edu	37	3	142215295	142215295	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:142215295G>A	ENST00000350721.4	-	34	5927	c.5806C>T	c.(5806-5808)Cac>Tac	p.H1936Y	ATR_ENST00000383101.3_Missense_Mutation_p.H1872Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1936	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCTGGTGGTGACCAGCCTTT	0.498								Other conserved DNA damage response genes																																									0													170.0	139.0	149.0					3																	142215295		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5806C>T	3.37:g.142215295G>A	ENSP00000343741:p.His1936Tyr		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.H1936Y	ENST00000350721.4	37	c.5806	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433844	0.83776	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.63096	-0.02;-0.02	5.78	5.78	0.91487	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	L	0.46157	1.445	0.80722	D	1	P	0.44776	0.843	P	0.53549	0.729	T	0.60924	-0.7166	10	0.20519	T	0.43	-12.1389	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1936	Q13535	ATR_HUMAN	Y	1936;1872	ENSP00000343741:H1936Y;ENSP00000372581:H1872Y	ENSP00000343741:H1936Y	H	-	1	0	ATR	143697985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.730000	0.93505	0.655000	0.94253	CAC	ATR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.498	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	G	NM_001184		142215295	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	A
ATXN7L2	127002	genome.wustl.edu	37	1	110034536	110034536	+	Intron	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:110034536C>T	ENST00000369870.3	+	10	2169				CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|ATXN7L2_ENST00000459635.1_Intron|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2											breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGAACCTTCCCCTATCCCTA	0.498																																																	0																																										SO:0001627	intron_variant	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2154+197C>T	1.37:g.110034536C>T				RNA	SNP	-	NULL	ENST00000369870.3	37	NULL	CCDS30794.1	1																																																																																			ATXN7L2	-	-		0.498	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	C	NM_153340		110034536	+1	no_errors	ENST00000497545	ensembl	human	known	70_37	rna	SNP	0.000	T
BACH1	571	genome.wustl.edu	37	21	30701994	30701994	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:30701994G>A	ENST00000399921.1	+	4	1999	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	BACH1_ENST00000286800.3_Missense_Mutation_p.E586K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACAGAATCTTGAATCAGAAAT	0.338																																																	0													24.0	24.0	24.0					21																	30701994		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1756G>A	21.37:g.30701994G>A	ENSP00000382805:p.Glu586Lys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E586K	ENST00000399921.1	37	c.1756	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669140	0.88348	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	D;D	0.92199	-2.99;-2.99	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.065049	0.64402	D	0.000007	D	0.95993	0.8695	M	0.79123	2.44	0.58432	D	0.999999	P	0.49961	0.93	D	0.63597	0.916	D	0.95934	0.8941	10	0.72032	D	0.01	-20.8652	19.6984	0.96043	0.0:0.0:1.0:0.0	.	586	O14867	BACH1_HUMAN	K	586	ENSP00000286800:E586K;ENSP00000382805:E586K	ENSP00000286800:E586K	E	+	1	0	BACH1	29623865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.720000	0.61944	2.660000	0.90430	0.650000	0.86243	GAA	BACH1	-	pfam_bZIP,smart_bZIP,pfscan_bZIP		0.338	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	G	NM_206866		30701994	+1	no_errors	ENST00000286800	ensembl	human	known	70_37	missense	SNP	1.000	A
BAHCC1	57597	genome.wustl.edu	37	17	79410443	79410443	+	Missense_Mutation	SNP	G	G	A	rs566509890		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:79410443G>A	ENST00000307745.7	+	9	2068	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N																								CAGGGAGCACGACACCACGCA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		16553	0.0		0.001	False		,,,				2504	0.0																0													9.0	11.0	10.0					17																	79410443		2057	4172	6229	SO:0001583	missense	57597																														ENST00000307745.7:c.2068G>A	17.37:g.79410443G>A	ENSP00000303486:p.Asp690Asn			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D690N	ENST00000307745.7	37	c.2068		17	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711175	0.48517	.	.	ENSG00000171282	ENST00000307745	T	0.11930	2.73	4.24	3.27	0.37495	.	.	.	.	.	T	0.09949	0.0244	L	0.44542	1.39	0.09310	N	0.999997	P	0.40398	0.716	B	0.28011	0.085	T	0.16988	-1.0384	9	0.27785	T	0.31	.	10.9798	0.47488	0.0939:0.0:0.9061:0.0	.	690	Q9P281	BAHC1_HUMAN	N	690	ENSP00000303486:D690N	ENSP00000303486:D690N	D	+	1	0	AC110285.1	77025038	0.685000	0.27652	0.049000	0.19019	0.240000	0.25518	2.899000	0.48679	1.002000	0.39104	0.563000	0.77884	GAC	BAHCC1	-	NULL		0.672	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79410443	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.378	A
BBS12	166379	genome.wustl.edu	37	4	123664237	123664237	+	Missense_Mutation	SNP	C	C	T	rs369235456		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:123664237C>T	ENST00000314218.3	+	2	1383	c.1190C>T	c.(1189-1191)gCa>gTa	p.A397V	BBS12_ENST00000542236.1_Missense_Mutation_p.A397V	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	397					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAACTGTGGGCAAATCACGTG	0.398									Bardet-Biedl syndrome																																								0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	68.0	72.0	71.0		1190,1190	1.1	0.0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	397/711,397/711	123664237	1,13005	2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1190C>T	4.37:g.123664237C>T	ENSP00000319062:p.Ala397Val		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.A397V	ENST00000314218.3	37	c.1190	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352922	0.01256	0.0	1.16E-4	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.74421	-0.84;-0.84	5.58	1.1	0.20463	.	1.421900	0.04205	N	0.330683	T	0.51041	0.1651	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.40251	-0.9573	10	0.07990	T	0.79	-40.0847	5.5795	0.17243	0.132:0.4548:0.0:0.4132	.	397	Q6ZW61	BBS12_HUMAN	V	397	ENSP00000319062:A397V;ENSP00000438273:A397V	ENSP00000319062:A397V	A	+	2	0	BBS12	123883687	0.001000	0.12720	0.010000	0.14722	0.533000	0.34776	0.961000	0.29267	0.240000	0.21263	0.650000	0.86243	GCA	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.398	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	C	NM_152618		123664237	+1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	0.000	T
BFSP1	631	genome.wustl.edu	37	20	17475568	17475568	+	Silent	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:17475568G>A	ENST00000377873.3	-	8	1188	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	BFSP1_ENST00000544874.1_Silent_p.N244N|BFSP1_ENST00000536626.1_Silent_p.N244N|BFSP1_ENST00000377868.2_Silent_p.N258N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	383	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CCAGAGCTCCGTTGGTTTTGT	0.408																																																	0													143.0	145.0	144.0					20																	17475568		2203	4300	6503	SO:0001819	synonymous_variant	631			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1149C>T	20.37:g.17475568G>A			F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	pfam_F,superfamily_Prefoldin	p.N383	ENST00000377873.3	37	c.1149	CCDS13126.1	20																																																																																			BFSP1	-	NULL		0.408	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	G	NM_001195		17475568	-1	no_errors	ENST00000377873	ensembl	human	known	70_37	silent	SNP	0.000	A
BST1	683	genome.wustl.edu	37	4	15717380	15717380	+	Missense_Mutation	SNP	G	G	A	rs113632818		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:15717380G>A	ENST00000265016.4	+	6	857	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	BST1_ENST00000382346.3_Missense_Mutation_p.R236Q	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	221					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAAATTACACGAATCGAGATC	0.328																																																	0													74.0	76.0	76.0					4																	15717380		2203	4300	6503	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.662G>A	4.37:g.15717380G>A	ENSP00000265016:p.Arg221Gln		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.R221Q	ENST00000265016.4	37	c.662	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.441|5.441	0.266422|0.266422	0.10294|0.10294	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	.|T;T;T	.|0.13901	.|2.55;2.55;2.55	5.49|5.49	3.78|3.78	0.43462|0.43462	.|NAD(P)-binding domain (1);	.|0.645321	.|0.16067	.|N	.|0.231195	T|T	0.08802|0.08802	0.0218|0.0218	L|L	0.43152|0.43152	1.355|1.355	0.22918|0.22918	N|N	0.998567|0.998567	.|B;P	.|0.48911	.|0.12;0.917	.|B;B	.|0.32211	.|0.017;0.142	T|T	0.24977|0.24977	-1.0145|-1.0145	5|10	.|0.23891	.|T	.|0.37	-2.2374|-2.2374	8.7358|8.7358	0.34528|0.34528	0.1746:0.0:0.8254:0.0|0.1746:0.0:0.8254:0.0	.|.	.|236;221	.|A6NC48;Q10588	.|.;BST1_HUMAN	K|Q	117;29|221;236;71	.|ENSP00000265016:R221Q;ENSP00000371783:R236Q;ENSP00000420925:R71Q	.|ENSP00000265016:R221Q	E|R	+|+	1|2	0|0	BST1|BST1	15326478|15326478	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.164000|0.164000	0.22412|0.22412	0.525000|0.525000	0.22956|0.22956	0.820000|0.820000	0.34516|0.34516	-0.119000|-0.119000	0.15052|0.15052	GAA|CGA	BST1	-	pfam_ADP-ribosyl_cyclase		0.328	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	G	NM_004334		15717380	+1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	1.000	A
C2orf43	60526	genome.wustl.edu	37	2	20901381	20901381	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:20901381C>T	ENST00000237822.3	-	6	814	c.735G>A	c.(733-735)atG>atA	p.M245I	C2orf43_ENST00000381090.3_Missense_Mutation_p.M245I|C2orf43_ENST00000435420.2_Missense_Mutation_p.M197I|C2orf43_ENST00000403006.2_Missense_Mutation_p.M115I|C2orf43_ENST00000541941.1_Missense_Mutation_p.M115I|C2orf43_ENST00000440866.2_Silent_p.*167*	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	245										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTCCATCATTTCTTGGC	0.343																																																	0													263.0	257.0	259.0					2																	20901381		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.735G>A	2.37:g.20901381C>T	ENSP00000237822:p.Met245Ile		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.M245I	ENST00000237822.3	37	c.735	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962871	0.74016	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.39997	1.05;1.64;1.05	5.2	4.32	0.51571	.	0.039808	0.85682	D	0.000000	T	0.61800	0.2376	M	0.79693	2.465	0.80722	D	1	D;B;D;D	0.63880	0.989;0.01;0.993;0.986	D;B;D;D	0.67725	0.927;0.026;0.953;0.927	T	0.64592	-0.6371	10	0.51188	T	0.08	-29.1387	10.2277	0.43236	0.0:0.9065:0.0:0.0935	.	203;197;245;245	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	I	115;245;245;197;115;115	ENSP00000384267:M115I;ENSP00000388635:M197I;ENSP00000440570:M115I	ENSP00000237822:M245I	M	-	3	0	C2orf43	20764862	0.998000	0.40836	0.966000	0.40874	0.993000	0.82548	3.839000	0.55835	1.521000	0.48983	0.655000	0.94253	ATG	C2orf43	-	pfam_DUF2305		0.343	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	C	NM_021925		20901381	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.986	T
C9orf153	389766	genome.wustl.edu	37	9	88842882	88842882	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:88842882T>G	ENST00000376001.3	-	3	210	c.130A>C	c.(130-132)Aaa>Caa	p.K44Q	C9orf153_ENST00000339137.3_Missense_Mutation_p.K44Q|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	44										breast(1)|lung(1)	2						CCATGCATTTTTAGAAGATTT	0.388																																																	0													113.0	95.0	101.0					9																	88842882		2203	4300	6503	SO:0001583	missense	389766				CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.130A>C	9.37:g.88842882T>G	ENSP00000365169:p.Lys44Gln		Q5TBE4	Missense_Mutation	SNP	NULL	p.K44Q	ENST00000376001.3	37	c.130	CCDS35055.1	9	.	.	.	.	.	.	.	.	.	.	T	8.471	0.857575	0.17106	.	.	ENSG00000187753	ENST00000339137;ENST00000376001	T;T	0.50001	0.76;0.76	4.74	2.39	0.29439	.	0.114957	0.39759	N	0.001261	T	0.33585	0.0868	L	0.34521	1.04	0.09310	N	1	B;B	0.24258	0.093;0.1	B;B	0.26770	0.046;0.073	T	0.23547	-1.0185	10	0.52906	T	0.07	-13.5939	6.635	0.22877	0.0:0.0887:0.1567:0.7547	.	44;44	Q5TBE3;Q5TBE3-2	CI153_HUMAN;.	Q	44	ENSP00000344865:K44Q;ENSP00000365169:K44Q	ENSP00000344865:K44Q	K	-	1	0	C9orf153	88032702	0.035000	0.19736	0.002000	0.10522	0.027000	0.11550	1.012000	0.29924	0.077000	0.16863	-1.255000	0.01485	AAA	C9orf153	-	NULL		0.388	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	C9orf153	HGNC	protein_coding	OTTHUMT00000052913.1	T	NM_001010907		88842882	-1	no_errors	ENST00000376001	ensembl	human	known	70_37	missense	SNP	0.001	G
CAMK2B	816	genome.wustl.edu	37	7	44268619	44268619	+	Intron	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:44268619G>C	ENST00000395749.2	-	19	1416				CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000350811.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta						activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCGTGTTCTAGACCCCTTGGG	0.667																																																	0																																										SO:0001627	intron_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1340-96C>G	7.37:g.44268619G>C			A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	RNA	SNP	-	NULL	ENST00000395749.2	37	NULL	CCDS5483.1	7																																																																																			CAMK2B	-	-		0.667	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44268619	-1	no_errors	ENST00000489429	ensembl	human	known	70_37	rna	SNP	0.000	C
CCDC114	93233	genome.wustl.edu	37	19	48807308	48807308	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:48807308C>T	ENST00000315396.7	-	7	1326	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	215					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CAAGATCTGCCGCTGCAGGAC	0.642																																																	0													82.0	81.0	81.0					19																	48807308		2203	4300	6503	SO:0001583	missense	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.644G>A	19.37:g.48807308C>T	ENSP00000318429:p.Arg215Gln		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.R215Q	ENST00000315396.7	37	c.644	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050791	0.55218	.	.	ENSG00000105479	ENST00000315396	T	0.37411	1.2	3.26	3.26	0.37387	.	.	.	.	.	T	0.57066	0.2028	M	0.79011	2.435	0.37122	D	0.900889	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.922;0.947	T	0.65615	-0.6125	9	0.59425	D	0.04	-12.03	10.1568	0.42827	0.0:1.0:0.0:0.0	.	8;215;215	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	Q	215	ENSP00000318429:R215Q	ENSP00000318429:R215Q	R	-	2	0	CCDC114	53499120	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	2.242000	0.43106	1.837000	0.53436	0.591000	0.81541	CGG	CCDC114	-	NULL		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	C	NM_144577		48807308	-1	no_errors	ENST00000315396	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC45	8318	genome.wustl.edu	37	22	19470334	19470334	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr22:19470334T>C	ENST00000407835.1	+	5	582	c.326T>C	c.(325-327)gTa>gCa	p.V109A	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.V109A|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000263201.1_Missense_Mutation_p.V109A			O75419	CDC45_HUMAN	cell division cycle 45	109					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCGTCAATGTATACAACGAT	0.413																																																	0													295.0	251.0	266.0					22																	19470334		2203	4300	6503	SO:0001583	missense	8318			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.326T>C	22.37:g.19470334T>C	ENSP00000385240:p.Val109Ala		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.V109A	ENST00000407835.1	37	c.326	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427749	0.43122	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000455750;ENST00000437685;ENST00000263201	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.52	5.52	0.82312	.	0.172020	0.51477	D	0.000097	T	0.56001	0.1956	M	0.84326	2.69	0.80722	D	1	B;P;B;P	0.49862	0.004;0.929;0.002;0.916	B;P;B;B	0.59115	0.009;0.852;0.009;0.423	T	0.61955	-0.6956	10	0.62326	D	0.03	-23.8443	15.6255	0.76851	0.0:0.0:0.0:1.0	.	109;104;109;109	E9PDH7;B4E092;B4DDU3;O75419	.;.;.;CDC45_HUMAN	A	109;97;109;109;109	ENSP00000385240:V109A;ENSP00000397434:V97A;ENSP00000413138:V109A;ENSP00000405726:V109A;ENSP00000263201:V109A	ENSP00000263201:V109A	V	+	2	0	CDC45	17850334	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	5.941000	0.70195	2.085000	0.62840	0.482000	0.46254	GTA	CDC45	-	pfam_CDC45		0.413	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	T	NM_003504		19470334	+1	no_errors	ENST00000437685	ensembl	human	known	70_37	missense	SNP	1.000	C
CDH12	1010	genome.wustl.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																																							0													78.0	76.0	76.0					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R638*	ENST00000382254.1	37	c.1912	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA	CDH12	-	pfam_Cadherin_cytoplasmic-dom		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	G	NM_004061		21752319	-1	no_errors	ENST00000382254	ensembl	human	known	70_37	nonsense	SNP	0.943	A
CEP152	22995	genome.wustl.edu	37	15	49031343	49031343	+	Silent	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:49031343C>T	ENST00000380950.2	-	27	4423	c.4236G>A	c.(4234-4236)aaG>aaA	p.K1412K	CEP152_ENST00000399334.3_Silent_p.K1356K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1412					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)		CTGCCCTCCTCTTGGGAGCTT	0.403																																																	0													161.0	148.0	152.0					15																	49031343		1888	4115	6003	SO:0001819	synonymous_variant	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.4236G>A	15.37:g.49031343C>T			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.K1412	ENST00000380950.2	37	c.4236	CCDS58361.1	15																																																																																			CEP152	-	NULL		0.403	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	C	NM_014985		49031343	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	silent	SNP	0.153	T
CHKA	1119	genome.wustl.edu	37	11	67838320	67838320	+	Missense_Mutation	SNP	C	C	T	rs368477871		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:67838320C>T	ENST00000265689.4	-	5	661	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	CHKA_ENST00000356135.5_Missense_Mutation_p.R194Q	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	212					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	ATCTAATCGCCGGCTCTGAAA	0.363																																																	0								C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	75.0	70.0	72.0		635,581	4.9	1.0	11		72	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	CHKA	NM_001277.2,NM_212469.1	43,43	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	212/458,194/440	67838320	1,12987	2200	4294	6494	SO:0001583	missense	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.635G>A	11.37:g.67838320C>T	ENSP00000265689:p.Arg212Gln		Q8NE29	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.R212Q	ENST00000265689.4	37	c.635	CCDS8178.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.564418	0.96527	0.0	1.16E-4	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.61510	0.1;0.1;0.1	4.88	4.88	0.63580	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.938;0.971	T	0.81818	-0.0758	10	0.72032	D	0.01	-24.2571	18.2087	0.89863	0.0:1.0:0.0:0.0	.	194;212	P35790-2;P35790	.;CHKA_HUMAN	Q	212;194;90	ENSP00000265689:R212Q;ENSP00000348454:R194Q;ENSP00000435032:R90Q	ENSP00000265689:R212Q	R	-	2	0	CHKA	67594896	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.566000	0.82347	2.521000	0.84997	0.561000	0.74099	CGG	CHKA	-	superfamily_Kinase-like_dom		0.363	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	C	NM_001277		67838320	-1	no_errors	ENST00000265689	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRD	8646	genome.wustl.edu	37	3	184104671	184104671	+	Silent	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:184104671G>A	ENST00000204604.1	+	17	2481	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P287P|CHRD_ENST00000450923.1_Silent_p.P745P|CHRD_ENST00000348986.3_Silent_p.P705P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	745	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGCCCACCGCCCAGCTGCC	0.667																																																	0													52.0	45.0	47.0					3																	184104671		2203	4300	6503	SO:0001819	synonymous_variant	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2235G>A	3.37:g.184104671G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.P745	ENST00000204604.1	37	c.2235	CCDS3266.1	3																																																																																			CHRD	-	pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C		0.667	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	G	NM_003741		184104671	+1	no_errors	ENST00000204604	ensembl	human	known	70_37	silent	SNP	0.000	A
COBL	23242	genome.wustl.edu	37	7	51240194	51240194	+	Intron	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:51240194C>T	ENST00000265136.7	-	5	949				COBL_ENST00000395540.2_Intron|COBL_ENST00000441453.1_Intron|COBL_ENST00000395542.2_Missense_Mutation_p.D273N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein						actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTCCTCATCGCTGTCTGCA	0.547																																					NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001627	intron_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.783+11604G>A	7.37:g.51240194C>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D273N	ENST00000265136.7	37	c.817	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846567	0.71603	.	.	ENSG00000106078	ENST00000445054;ENST00000431948;ENST00000395542	T;T;T	0.48522	0.81;0.81;0.81	4.0	2.16	0.27623	.	.	.	.	.	T	0.54111	0.1838	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.39502	-0.9611	8	0.21540	T	0.41	.	4.7434	0.13026	0.2139:0.6736:0.0:0.1125	.	273	O75128-2	.	N	140;76;273	ENSP00000401204:D140N;ENSP00000413498:D76N;ENSP00000378912:D273N	ENSP00000378912:D273N	D	-	1	0	COBL	51207688	0.000000	0.05858	0.002000	0.10522	0.503000	0.33858	0.011000	0.13264	0.444000	0.26612	0.655000	0.94253	GAT	COBL	-	pfam_Cordon-bleu_domain		0.547	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	C	NM_015198		51240194	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	missense	SNP	0.010	T
COL25A1	84570	genome.wustl.edu	37	4	109895530	109895530	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:109895530C>T	ENST00000399132.1	-	8	1015	c.485G>A	c.(484-486)gGa>gAa	p.G162E	COL25A1_ENST00000399127.1_Missense_Mutation_p.G162E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G162E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCCTAGGTCCCTGATCACC	0.373																																																	0													121.0	112.0	115.0					4																	109895530		1867	4097	5964	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.485G>A	4.37:g.109895530C>T	ENSP00000382083:p.Gly162Glu			Missense_Mutation	SNP	pfam_Collagen	p.G162E	ENST00000399132.1	37	c.485	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509324	0.44660	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99619	-6.0;-6.28;-6.0	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.94142	3.5	0.43930	D	0.996589	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97496	1.0057	9	.	.	.	-5.9157	18.3198	0.90234	0.0:1.0:0.0:0.0	.	162;162	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	E	162;164;158;162;162;164	ENSP00000382083:G162E;ENSP00000382078:G162E;ENSP00000382077:G162E	.	G	-	2	0	COL25A1	110114979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.770000	0.62309	2.765000	0.95021	0.557000	0.71058	GGA	COL25A1	-	pfam_Collagen		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518		109895530	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17292290	17292290	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:17292290C>T	ENST00000375541.5	+	28	4547	c.4478C>T	c.(4477-4479)cCt>cTt	p.P1493L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTCCAGGACCTGCCACCTCC	0.632																																																	0													35.0	39.0	37.0					1																	17292290		2202	4297	6499	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4478C>T	1.37:g.17292290C>T	ENSP00000364691:p.Pro1493Leu			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.P1493L	ENST00000375541.5	37	c.4478	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967209	0.34754	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.44083	0.93	4.27	3.33	0.38152	.	.	.	.	.	T	0.28665	0.0710	L	0.34521	1.04	0.40311	D	0.978716	P;B	0.35745	0.518;0.202	B;B	0.32533	0.147;0.094	T	0.05435	-1.0885	9	0.25751	T	0.34	.	10.6405	0.45590	0.0:0.9002:0.0:0.0998	.	796;1493	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	L	1493;1374	ENSP00000364691:P1493L	ENSP00000364691:P1493L	P	+	2	0	CROCC	17164877	.	.	0.877000	0.34402	0.712000	0.41017	.	.	0.870000	0.35726	0.579000	0.79373	CCT	CROCC	-	NULL		0.632	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	C	NM_014675		17292290	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	0.983	T
CST5	1473	genome.wustl.edu	37	20	23860155	23860155	+	Silent	SNP	G	G	A	rs572425129		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:23860155G>A	ENST00000304710.4	-	1	232	c.159C>T	c.(157-159)agC>agT	p.S53S		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	53					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGTTGTACTCGCTGATGGCAA	0.582													g|||	1	0.000199681	0.0	0.0	5008	,	,		17238	0.001		0.0	False		,,,				2504	0.0																0													217.0	198.0	205.0					20																	23860155		2203	4300	6503	SO:0001819	synonymous_variant	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.159C>T	20.37:g.23860155G>A			Q5JRF5|Q9UCA0	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.S53	ENST00000304710.4	37	c.159	CCDS13162.1	20																																																																																			CST5	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.582	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST5	HGNC	protein_coding	OTTHUMT00000078355.2	G	NM_001900		23860155	-1	no_errors	ENST00000304710	ensembl	human	known	70_37	silent	SNP	0.000	A
CWF19L1	55280	genome.wustl.edu	37	10	102010025	102010025	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:102010025C>G	ENST00000354105.4	-	7	774	c.688G>C	c.(688-690)Gga>Cga	p.G230R	CWF19L1_ENST00000478047.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	230							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCTGGATTTCCAACATTTGCC	0.363																																																	0													135.0	127.0	130.0					10																	102010025		2203	4300	6503	SO:0001583	missense	55280			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.688G>C	10.37:g.102010025C>G	ENSP00000326411:p.Gly230Arg		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.G230R	ENST00000354105.4	37	c.688	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419097	0.83559	.	.	ENSG00000095485	ENST00000354105	T	0.33654	1.4	5.4	5.4	0.78164	.	0.199234	0.53938	D	0.000051	T	0.61311	0.2337	M	0.85777	2.775	0.51012	D	0.999906	D;D	0.69078	0.997;0.991	P;P	0.59643	0.861;0.813	T	0.66240	-0.5973	10	0.56958	D	0.05	-14.8231	17.0241	0.86441	0.0:1.0:0.0:0.0	.	93;230	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	R	230	ENSP00000326411:G230R	ENSP00000326411:G230R	G	-	1	0	CWF19L1	102000015	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.692000	0.54727	2.687000	0.91594	0.563000	0.77884	GGA	CWF19L1	-	NULL		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding		C	NM_018294		102010025	-1	no_errors	ENST00000354105	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP4V2	285440	genome.wustl.edu	37	4	187115763	187115763	+	Silent	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:187115763G>T	ENST00000378802.4	+	2	628	c.324G>T	c.(322-324)gtG>gtT	p.V108V		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	108					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CAGAAAATGTGGAGGTGGGTA	0.458																																																	0													103.0	97.0	99.0					4																	187115763		2203	4300	6503	SO:0001819	synonymous_variant	285440			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.324G>T	4.37:g.187115763G>T			B7U6W2|Q6ZTM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.V108	ENST00000378802.4	37	c.324	CCDS34119.1	4																																																																																			CYP4V2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.458	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4V2	HGNC	protein_coding	OTTHUMT00000360398.1	G	XM_209612		187115763	+1	no_errors	ENST00000378802	ensembl	human	known	70_37	silent	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31555446	31555446	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:31555446C>T	ENST00000389082.5	-	15	3199	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E1014K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E1014K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	979	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGGTCATTTCGAGGAGGTTT	0.408																																																	0													171.0	166.0	167.0					12																	31555446		1854	4118	5972	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2935G>A	12.37:g.31555446C>T	ENSP00000373734:p.Glu979Lys		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E1014K	ENST00000389082.5	37	c.3040	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755383	0.89843	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.64618	-0.11;-0.11;-0.11	4.2	4.2	0.49525	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.126247	0.51477	D	0.000092	T	0.76343	0.3974	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.981	T	0.79978	-0.1575	10	0.72032	D	0.01	-31.6079	16.7435	0.85466	0.0:1.0:0.0:0.0	.	979;1014	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	979;1014;1014	ENSP00000373734:E979K;ENSP00000306482:E1014K;ENSP00000444889:E1014K	ENSP00000306482:E1014K	E	-	1	0	DENND5B	31446713	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	7.398000	0.79919	2.174000	0.68829	0.655000	0.94253	GAA	DENND5B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2		0.408	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31555446	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84821167	84821167	+	Silent	SNP	T	T	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:84821167T>C	ENST00000237449.6	+	16	2690	c.2682T>C	c.(2680-2682)gaT>gaC	p.D894D	DNAH6_ENST00000398278.2_Silent_p.D894D|DNAH6_ENST00000389394.3_Silent_p.D894D			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	894	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGCTCTGGGATTCTTTCTCTG	0.338																																																	0													98.0	95.0	96.0					2																	84821167		692	1591	2283	SO:0001819	synonymous_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2682T>C	2.37:g.84821167T>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D894	ENST00000237449.6	37	c.2682	CCDS46348.1	2																																																																																			DNAH6	-	pfam_Dynein_heavy_dom-2		0.338	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	T	NM_001370		84821167	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	silent	SNP	1.000	C
DNAJC6	9829	genome.wustl.edu	37	1	65831791	65831791	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:65831791G>A	ENST00000395325.3	+	4	441	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R152Q|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R82Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	95	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GATGACATTCGAAGCTTTTTG	0.408																																																	0													212.0	201.0	205.0					1																	65831791		2203	4300	6503	SO:0001583	missense	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.284G>A	1.37:g.65831791G>A	ENSP00000378735:p.Arg95Gln		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.R152Q	ENST00000395325.3	37	c.455	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.683667	0.96774	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98550	-4.99;-4.99;-4.99	5.51	5.51	0.81932	Phosphatase tensin type (1);	0.065516	0.64402	D	0.000009	D	0.97657	0.9232	N	0.26092	0.79	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	P;B;D	0.81914	0.774;0.429;0.995	D	0.97603	1.0124	10	0.36615	T	0.2	.	19.4309	0.94765	0.0:0.0:1.0:0.0	.	152;95;82	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Q	82;95;152	ENSP00000263441:R82Q;ENSP00000378735:R95Q;ENSP00000360108:R152Q	ENSP00000263441:R82Q	R	+	2	0	DNAJC6	65604379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.188000	0.94921	2.595000	0.87683	0.563000	0.77884	CGA	DNAJC6	-	pfscan_Phosphatase_tensin-typ		0.408	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	G			65831791	+1	no_errors	ENST00000371069	ensembl	human	known	70_37	missense	SNP	1.000	A
EFCAB6	64800	genome.wustl.edu	37	22	44028049	44028049	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr22:44028049C>A	ENST00000262726.7	-	19	2421	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S571I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATAAAGTGGCTGTTCACGTA	0.522																																																	0													115.0	118.0	117.0					22																	44028049		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2168G>T	22.37:g.44028049C>A	ENSP00000262726:p.Ser723Ile		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S723I	ENST00000262726.7	37	c.2168	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156083	0.21454	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15372	2.43;2.43	4.37	-0.27	0.12926	EF-hand-like domain (1);	0.767473	0.11966	N	0.512233	T	0.19765	0.0475	L	0.47716	1.5	0.09310	N	1	P;D	0.54397	0.899;0.966	P;P	0.53809	0.735;0.641	T	0.12760	-1.0535	10	0.38643	T	0.18	-1.3671	3.7236	0.08466	0.0:0.4843:0.1867:0.329	.	571;723	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	I	571;723	ENSP00000379533:S571I;ENSP00000262726:S723I	ENSP00000262726:S723I	S	-	2	0	EFCAB6	42359382	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.393000	0.20817	-0.053000	0.13289	-0.229000	0.12294	AGC	EFCAB6	-	NULL		0.522	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		44028049	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.000	A
EGF	1950	genome.wustl.edu	37	4	110914420	110914420	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:110914420C>G	ENST00000265171.5	+	19	3197	c.2752C>G	c.(2752-2754)Ctg>Gtg	p.L918V	EGF_ENST00000509793.1_Missense_Mutation_p.L876V|EGF_ENST00000503392.1_Intron|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	918	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGAGTGCCAACTGGGGGAGCA	0.493																																																	0													133.0	129.0	130.0					4																	110914420		2203	4300	6503	SO:0001583	missense	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2752C>G	4.37:g.110914420C>G	ENSP00000265171:p.Leu918Val		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.L918V	ENST00000265171.5	37	c.2752	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805147	0.16467	.	.	ENSG00000138798	ENST00000509793;ENST00000265171	T;D	0.92099	2.26;-2.97	5.0	3.01	0.34805	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.756326	0.12515	N	0.462170	D	0.87022	0.6074	L	0.31294	0.92	0.20074	N	0.999938	P;P	0.45044	0.649;0.849	B;P	0.47299	0.228;0.543	T	0.77005	-0.2748	10	0.29301	T	0.29	.	4.3616	0.11205	0.237:0.6396:0.0:0.1234	.	876;918	P01133-2;P01133	.;EGF_HUMAN	V	876;918	ENSP00000424316:L876V;ENSP00000265171:L918V	ENSP00000265171:L918V	L	+	1	2	EGF	111133869	0.003000	0.15002	0.225000	0.23894	0.135000	0.20990	0.308000	0.19314	1.247000	0.43917	0.650000	0.86243	CTG	EGF	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom		0.493	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	C			110914420	+1	no_errors	ENST00000265171	ensembl	human	known	70_37	missense	SNP	0.297	G
SCIN	85477	genome.wustl.edu	37	7	12610243	12610243	+	5'Flank	SNP	T	T	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:12610243T>C	ENST00000297029.5	+	0	0				AC005281.2_ENST00000433040.1_RNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin						actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAAGCGATCGTCTCCTCTGTC	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385		7.37:g.12610243T>C	Exception_encountered		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	RNA	SNP	-	NULL	ENST00000297029.5	37	NULL	CCDS47545.1	7																																																																																			AC005281.2	-	-		0.627	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225606	Clone_based_vega_gene	protein_coding	OTTHUMT00000326041.1	T	NM_033128		12610243	-1	no_errors	ENST00000433040	ensembl	human	known	70_37	rna	SNP	0.000	C
CERS2	29956	genome.wustl.edu	37	1	150938031	150938031	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:150938031G>A	ENST00000271688.6	-	0	2122				RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_3'UTR|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CACTAAGAAAGATCATCCGAG	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.*593C>T	1.37:g.150938031G>A			D3DV06|Q5SZE5|Q9HD96|Q9NW79	RNA	SNP	-	NULL	ENST00000271688.6	37	NULL	CCDS973.1	1																																																																																			RP11-316M1.12	-	-		0.512	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259357	Clone_based_vega_gene	protein_coding	OTTHUMT00000084897.2	G	NM_022075		150938031	+1	no_errors	ENST00000560481	ensembl	human	known	70_37	rna	SNP	0.001	A
EVA1A	84141	genome.wustl.edu	37	2	75720424	75720424	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:75720424C>G	ENST00000233712.1	-	4	834	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	EVA1A_ENST00000410113.1_Missense_Mutation_p.E133Q|EVA1A_ENST00000393913.3_Missense_Mutation_p.E133Q|EVA1A_ENST00000410010.1_Missense_Mutation_p.E121Q|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Missense_Mutation_p.E133Q	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	133					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											ATCCAGATCTCCCTGATGATG	0.627																																																	0													44.0	50.0	48.0					2																	75720424		2203	4300	6503	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.397G>C	2.37:g.75720424C>G	ENSP00000233712:p.Glu133Gln		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.E133Q	ENST00000233712.1	37	c.397	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882087	0.91740	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	4.79	4.79	0.61399	.	0.102991	0.64402	D	0.000001	T	0.82135	0.4971	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85769	0.1354	10	0.87932	D	0	-14.9002	16.1387	0.81509	0.0:1.0:0.0:0.0	.	133	Q9H8M9	F176A_HUMAN	Q	133;133;133;121;133;133	ENSP00000377490:E133Q;ENSP00000233712:E133Q;ENSP00000386435:E133Q;ENSP00000386835:E121Q;ENSP00000386930:E133Q;ENSP00000398249:E133Q	ENSP00000233712:E133Q	E	-	1	0	FAM176A	75573932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.729000	0.84864	2.573000	0.86826	0.655000	0.94253	GAG	EVA1A	-	NULL		0.627	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	C	NM_032181		75720424	-1	no_errors	ENST00000233712	ensembl	human	known	70_37	missense	SNP	1.000	G
FAF1	11124	genome.wustl.edu	37	1	51204625	51204625	+	Splice_Site	SNP	G	G	T	rs140506622		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:51204625G>T	ENST00000396153.2	-	6	912	c.461C>A	c.(460-462)aCg>aAg	p.T154K	FAF1_ENST00000371778.4_Splice_Site_p.T154K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	154					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTTTAGGACCGTCTGAAAAAG	0.318																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											121.0	116.0	118.0					1																	51204625		2203	4300	6503	SO:0001630	splice_region_variant	11124			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.460-1C>A	1.37:g.51204625G>T			Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.T154K	ENST00000396153.2	37	c.461	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879328	0.72294	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.81	2.95	0.34219	.	0.158124	0.56097	D	0.000027	T	0.68760	0.3036	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.67995	-0.5526	9	0.66056	D	0.02	-20.3236	10.1307	0.42676	0.2189:0.0:0.7811:0.0	.	154	Q9UNN5	FAF1_HUMAN	K	154;154;146;154	.	ENSP00000360843:T154K	T	-	2	0	FAF1	50977213	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	2.565000	0.45939	0.375000	0.24679	0.655000	0.94253	ACG	FAF1	-	NULL		0.318	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	G	NM_007051	Missense_Mutation	51204625	-1	no_errors	ENST00000371778	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM73A	374986	genome.wustl.edu	37	1	78245381	78245381	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:78245381C>T	ENST00000370791.3	+	1	73	c.41C>T	c.(40-42)gCt>gTt	p.A14V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A14V|RNA5SP21_ENST00000410917.1_RNA	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	14						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGCTGGGAAGCTGGCGTGGGC	0.677																																																	0													7.0	7.0	7.0					1																	78245381		2178	4255	6433	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.41C>T	1.37:g.78245381C>T	ENSP00000359827:p.Ala14Val		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.A14V	ENST00000370791.3	37	c.41	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794733	0.50102	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.32023	1.88;1.47	4.46	2.56	0.30785	.	0.648204	0.12744	N	0.442743	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.32079	-0.9920	10	0.87932	D	0	-0.2691	6.3066	0.21141	0.0:0.7775:0.0:0.2225	.	14;14;14	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	14	ENSP00000359827:A14V;ENSP00000393675:A14V	ENSP00000359827:A14V	A	+	2	0	FAM73A	78017969	0.001000	0.12720	0.050000	0.19076	0.023000	0.10783	-0.407000	0.07178	1.181000	0.42912	0.650000	0.86243	GCT	FAM73A	-	NULL		0.677	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	C	NM_198549		78245381	+1	no_errors	ENST00000370791	ensembl	human	known	70_37	missense	SNP	0.047	T
FBXW2	26190	genome.wustl.edu	37	9	123540630	123540630	+	Splice_Site	SNP	C	C	T	rs200239627		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:123540630C>T	ENST00000608872.1	-	4	871	c.684G>A	c.(682-684)gcG>gcA	p.A228A	FBXW2_ENST00000493559.1_5'Flank|FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	228					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GCAACCCACCCGCCCCCGTGT	0.488																																																	0								C		0,3638		0,0,1819	22.0	23.0	22.0		684	3.0	1.0	9		22	2,8136		0,2,4067	yes	coding-synonymous-near-splice	FBXW2	NM_012164.3		0,2,5886	TT,TC,CC		0.0246,0.0,0.017		228/455	123540630	2,11774	1819	4069	5888	SO:0001630	splice_region_variant	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.685+1G>A	9.37:g.123540630C>T			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A228	ENST00000608872.1	37	c.684	CCDS43872.1	9																																																																																			FBXW2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.488	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	C		Silent	123540630	-1	no_errors	ENST00000373926	ensembl	human	known	70_37	silent	SNP	1.000	T
PRDM16	63976	genome.wustl.edu	37	1	2984087	2984087	+	5'Flank	SNP	C	C	T	rs2297829	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:2984087C>T	ENST00000270722.5	+	0	0				PRDM16_ENST00000378391.2_5'Flank|PRDM16_ENST00000442529.2_5'Flank|PRDM16_ENST00000511072.1_5'Flank|PRDM16_ENST00000378398.3_5'Flank|PRDM16_ENST00000514189.1_5'Flank|PRDM16_ENST00000441472.2_5'Flank|LINC00982_ENST00000445317.1_RNA|LINC00982_ENST00000321336.1_RNA			Q9HAZ2	PRD16_HUMAN	PR domain containing 16						brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCAGCGCACCGCCGCCGCCA	0.721			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0																																										SO:0001631	upstream_gene_variant	440556			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581		1.37:g.2984087C>T	Exception_encountered		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	RNA	SNP	-	NULL	ENST00000270722.5	37	NULL	CCDS41236.2	1																																																																																			RP1-163G9.1	-	-		0.721	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLJ42875	Clone_based_vega_gene	protein_coding	OTTHUMT00000001382.3	C	NM_022114		2984087	-1	no_errors	ENST00000321336	ensembl	human	known	70_37	rna	SNP	0.000	T
FUT11	170384	genome.wustl.edu	37	10	75535250	75535250	+	Intron	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:75535250C>G	ENST00000372841.3	+	3	1377				AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.H470D|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)						protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AGGCAGGACTCATAACTATGC	0.443																																																	0													56.0	55.0	56.0					10																	75535250		2203	4300	6503	SO:0001627	intron_variant	170384			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1335-49C>G	10.37:g.75535250C>G			Q495W7|Q8IYE4	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.H470D	ENST00000372841.3	37	c.1408	CCDS7333.1	10	.	.	.	.	.	.	.	.	.	.	C	7.246	0.602202	0.13939	.	.	ENSG00000196968	ENST00000394790	T	0.35048	1.33	5.6	-4.73	0.03259	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	T	0.32107	-0.9919	8	0.15499	T	0.54	.	7.1236	0.25458	0.0:0.1969:0.2976:0.5055	.	470	Q495W5-2	.	D	470	ENSP00000378270:H470D	ENSP00000378270:H470D	H	+	1	0	FUT11	75205256	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.023000	0.01438	-0.739000	0.04809	-0.993000	0.02533	CAT	FUT11	-	pirsf_Alpha-1_3-FUT_met		0.443	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	C	NM_173540		75535250	+1	no_errors	ENST00000394790	ensembl	human	known	70_37	missense	SNP	0.000	G
GFRA1	2674	genome.wustl.edu	37	10	117823975	117823975	+	Silent	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:117823975C>G	ENST00000355422.6	-	11	1882	c.1332G>C	c.(1330-1332)ctG>ctC	p.L444L	GFRA1_ENST00000544592.1_Silent_p.L323L|GFRA1_ENST00000439649.3_Silent_p.L439L|GFRA1_ENST00000369236.1_Silent_p.L439L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	444					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GCAGTGGGCTCAGACCACAGC	0.428																																					Ovarian(128;329 1725 45498 46808 50759)												0													171.0	138.0	149.0					10																	117823975		2203	4300	6503	SO:0001819	synonymous_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1332G>C	10.37:g.117823975C>G			A8KA21|O15507|O43912	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.L444	ENST00000355422.6	37	c.1332	CCDS44481.1	10																																																																																			GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.428	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117823975	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	silent	SNP	0.996	G
GNA15	2769	genome.wustl.edu	37	19	3157769	3157769	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:3157769A>G	ENST00000262958.3	+	6	1046	c.788A>G	c.(787-789)gAa>gGa	p.E263G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	263					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACTATCCTGGAACTACCCTGG	0.532																																																	0													268.0	225.0	240.0					19																	3157769		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.788A>G	19.37:g.3157769A>G	ENSP00000262958:p.Glu263Gly		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.E263G	ENST00000262958.3	37	c.788	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303986	0.23736	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.62	3.58	0.41010	.	0.152382	0.42964	D	0.000639	T	0.80592	0.4652	N	0.21282	0.65	0.31857	N	0.621455	B	0.02656	0.0	B	0.09377	0.004	T	0.77230	-0.2664	10	0.72032	D	0.01	.	9.5274	0.39173	0.8218:0.1782:0.0:0.0	.	263	P30679	GNA15_HUMAN	G	263	ENSP00000262958:E263G	ENSP00000262958:E263G	E	+	2	0	GNA15	3108769	1.000000	0.71417	0.375000	0.26029	0.294000	0.27393	4.978000	0.63799	0.625000	0.30304	0.445000	0.29226	GAA	GNA15	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.532	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	A	NM_002068		3157769	+1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.913	G
GPLD1	2822	genome.wustl.edu	37	6	24486350	24486350	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:24486350C>T	ENST00000230036.1	-	2	216	c.106G>A	c.(106-108)Gct>Act	p.A36T	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	36					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AACTCCAGAGCTCTGTGTCCT	0.313																																																	0													120.0	128.0	125.0					6																	24486350		2203	4300	6503	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.106G>A	6.37:g.24486350C>T	ENSP00000230036:p.Ala36Thr		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.A36T	ENST00000230036.1	37	c.106	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219162	0.58560	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.52983	0.64	5.11	5.11	0.69529	.	0.078748	0.52532	D	0.000067	T	0.54565	0.1866	M	0.80847	2.515	0.58432	D	0.999992	D;P	0.55605	0.972;0.722	P;B	0.54100	0.742;0.419	T	0.55566	-0.8121	10	0.35671	T	0.21	-14.8187	16.1183	0.81324	0.0:1.0:0.0:0.0	.	36;36	P80108-2;P80108	.;PHLD_HUMAN	T	36	ENSP00000230036:A36T	ENSP00000230036:A36T	A	-	1	0	GPLD1	24594329	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.057000	0.57455	2.526000	0.85167	0.551000	0.68910	GCT	GPLD1	-	prints_Gprt_PLipase_D		0.313	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	C	NM_001503		24486350	-1	no_errors	ENST00000230036	ensembl	human	known	70_37	missense	SNP	1.000	T
GPX5	2880	genome.wustl.edu	37	6	28497211	28497212	+	Intron	INS	-	-	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:28497211_28497212insA	ENST00000412168.2	+	2	176				GPX5_ENST00000469384.1_Intron|GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)						lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TATTATCACTTAAAAAAAATCT	0.342																																																	0																																										SO:0001627	intron_variant	2880			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.88-16->A	6.37:g.28497219_28497219dupA			A1A4Y0	RNA	INS	-	NULL	ENST00000412168.2	37	NULL	CCDS4652.1	6																																																																																			GPX5	-	-		0.342	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2	-			28497212	+1	no_errors	ENST00000442674	ensembl	human	known	70_37	rna	INS	0.000:0.025	A
GRIN2A	2903	genome.wustl.edu	37	16	9862723	9862723	+	Silent	SNP	G	G	C	rs201007843		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:9862723G>C	ENST00000396573.2	-	13	2889	c.2580C>G	c.(2578-2580)ctC>ctG	p.L860L	GRIN2A_ENST00000404927.2_Silent_p.L860L|GRIN2A_ENST00000330684.3_Silent_p.L860L|GRIN2A_ENST00000535259.1_Silent_p.L703L|GRIN2A_ENST00000562109.1_Silent_p.L860L|GRIN2A_ENST00000396575.2_Silent_p.L860L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	860					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGGAGAAGAGCAACCCAG	0.562																																																	0													95.0	103.0	100.0					16																	9862723		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2580C>G	16.37:g.9862723G>C			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L860	ENST00000396573.2	37	c.2580	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C		0.562	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	G			9862723	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	0.987	C
HAPLN4	404037	genome.wustl.edu	37	19	19369456	19369456	+	Silent	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:19369456G>A	ENST00000291481.7	-	4	756	c.693C>T	c.(691-693)ggC>ggT	p.G231G	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	231	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCCCCAGGCCGCCGCAGGGCT	0.726																																																	0													17.0	19.0	19.0					19																	19369456		2198	4291	6489	SO:0001819	synonymous_variant	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.693C>T	19.37:g.19369456G>A			A5PKW5|Q96PW2	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.G231	ENST00000291481.7	37	c.693	CCDS12398.1	19																																																																																			HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.726	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	G	NM_023002		19369456	-1	no_errors	ENST00000291481	ensembl	human	known	70_37	silent	SNP	0.993	A
HLA-DRA	3122	genome.wustl.edu	37	6	32411228	32411228	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:32411228C>A	ENST00000374982.5	+	3	593	c.520C>A	c.(520-522)Ctt>Att	p.L174I	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.L199I			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	199	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGATGAGCCTCTTCTCAAGCA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																																								0													115.0	127.0	123.0					6																	32411228		1509	2709	4218	SO:0001583	missense	3122	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.520C>A	6.37:g.32411228C>A	ENSP00000364121:p.Leu174Ile		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.L199I	ENST00000374982.5	37	c.595		6	.	.	.	.	.	.	.	.	.	.	.	16.86	3.238718	0.58995	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00623	6.15;6.15	5.59	-2.59	0.06209	Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.108070	0.06619	N	0.756982	T	0.00695	0.0023	M	0.61703	1.905	0.09310	N	1	P;B	0.44946	0.846;0.01	P;B	0.53360	0.724;0.07	T	0.38628	-0.9652	10	0.87932	D	0	.	9.7073	0.40222	0.315:0.2341:0.4508:0.0	.	174;199	Q30118;P01903	.;DRA_HUMAN	I	199;174	ENSP00000378786:L199I;ENSP00000364121:L174I	ENSP00000364121:L174I	L	+	1	0	HLA-DRA	32519206	0.000000	0.05858	0.269000	0.24586	0.791000	0.44710	-1.318000	0.02705	-0.369000	0.08028	0.638000	0.83543	CTT	HLA-DRA	-	pfam_Ig_C1-set		0.493	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	HLA-DRA	HGNC	protein_coding	OTTHUMT00000076587.3	C	NM_019111		32411228	+1	no_errors	ENST00000395388	ensembl	human	known	70_37	missense	SNP	0.075	A
HTT	3064	genome.wustl.edu	37	4	3189445	3189445	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:3189445A>C	ENST00000355072.5	+	39	5202	c.5057A>C	c.(5056-5058)cAg>cCg	p.Q1686P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1686					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGATTTCCCAGTCAACTGAA	0.408																																																	0													205.0	191.0	196.0					4																	3189445		1844	4095	5939	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5057A>C	4.37:g.3189445A>C	ENSP00000347184:p.Gln1686Pro		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.Q1686P	ENST00000355072.5	37	c.5057	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601814	0.87055	.	.	ENSG00000197386	ENST00000355072	T	0.06142	3.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.00792	-1.1564	10	0.32370	T	0.25	.	15.8807	0.79201	1.0:0.0:0.0:0.0	.	1686	P42858	HD_HUMAN	P	1686	ENSP00000347184:Q1686P	ENSP00000347184:Q1686P	Q	+	2	0	HTT	3159243	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.108000	0.94275	2.151000	0.67156	0.533000	0.62120	CAG	HTT	-	NULL		0.408	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	A	NM_002111		3189445	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	C
IDI2	91734	genome.wustl.edu	37	10	1065758	1065758	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr10:1065758A>G	ENST00000277517.1	-	5	447	c.383T>C	c.(382-384)aTt>aCt	p.I128T	IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	128	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CATGAACACAATGTCCTCTGG	0.363																																																	0													118.0	103.0	108.0					10																	1065758		2203	4300	6503	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.383T>C	10.37:g.1065758A>G	ENSP00000277517:p.Ile128Thr			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.I128T	ENST00000277517.1	37	c.383	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011000	0.75046	.	.	ENSG00000148377	ENST00000277517	T	0.08458	3.09	3.55	3.55	0.40652	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.101585	0.64402	U	0.000003	T	0.24547	0.0595	M	0.63843	1.955	0.21527	N	0.999654	P	0.42649	0.786	D	0.68765	0.96	T	0.00695	-1.1606	10	0.87932	D	0	-21.9376	11.0697	0.47995	1.0:0.0:0.0:0.0	.	128	Q9BXS1	IDI2_HUMAN	T	128	ENSP00000277517:I128T	ENSP00000277517:I128T	I	-	2	0	IDI2	1055758	0.998000	0.40836	0.010000	0.14722	0.628000	0.37860	7.533000	0.81994	1.611000	0.50210	0.155000	0.16302	ATT	IDI2	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.363	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	A	NM_033261		1065758	-1	no_errors	ENST00000277517	ensembl	human	known	70_37	missense	SNP	0.252	G
IFT52	51098	genome.wustl.edu	37	20	42247631	42247631	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr20:42247631C>G	ENST00000373030.3	+	8	794	c.664C>G	c.(664-666)Caa>Gaa	p.Q222E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q222E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	222					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTCAGTGATCAATATTTGGA	0.343																																																	0													111.0	99.0	103.0					20																	42247631		2203	4300	6503	SO:0001583	missense	51098			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.664C>G	20.37:g.42247631C>G	ENSP00000362121:p.Gln222Glu		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	pfam_ABC_transp_unknown	p.Q222E	ENST00000373030.3	37	c.664	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146718	0.37923	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.97	4.97	0.65823	.	0.053824	0.85682	D	0.000000	T	0.52419	0.1733	L	0.48174	1.505	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.51490	-0.8699	9	0.02654	T	1	-13.2823	17.4122	0.87489	0.0:1.0:0.0:0.0	.	222	Q9Y366	IFT52_HUMAN	E	222	.	ENSP00000362121:Q222E	Q	+	1	0	IFT52	41681045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.621000	0.83083	2.478000	0.83669	0.650000	0.86243	CAA	IFT52	-	NULL		0.343	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	C	NM_016004		42247631	+1	no_errors	ENST00000373030	ensembl	human	known	70_37	missense	SNP	1.000	G
IGDCC4	57722	genome.wustl.edu	37	15	65676429	65676429	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:65676429C>T	ENST00000352385.2	-	20	3880	c.3671G>A	c.(3670-3672)gGa>gAa	p.G1224E	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCAGCTATCTCCAGGGGTCTC	0.652																																																	0													25.0	30.0	28.0					15																	65676429		2201	4298	6499	SO:0001583	missense	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3671G>A	15.37:g.65676429C>T	ENSP00000319623:p.Gly1224Glu		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1224E	ENST00000352385.2	37	c.3671	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357840	0.41801	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.63580	-0.05	5.2	4.27	0.50696	.	0.000000	0.44688	D	0.000430	T	0.49762	0.1576	L	0.32530	0.975	0.30949	N	0.724946	B	0.21225	0.053	B	0.22152	0.038	T	0.56661	-0.7942	10	0.66056	D	0.02	-24.0077	10.0609	0.42275	0.0:0.9047:0.0:0.0953	.	1224	Q8TDY8	IGDC4_HUMAN	E	1224;953	ENSP00000319623:G1224E	ENSP00000319623:G1224E	G	-	2	0	IGDCC4	63463482	0.876000	0.30132	0.994000	0.49952	0.005000	0.04900	1.106000	0.31098	2.426000	0.82243	0.655000	0.94253	GGA	IGDCC4	-	NULL		0.652	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	C	NM_020962		65676429	-1	no_errors	ENST00000352385	ensembl	human	novel	70_37	missense	SNP	0.839	T
IRF7	3665	genome.wustl.edu	37	11	613857	613857	+	Missense_Mutation	SNP	C	C	T	rs544913425		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:613857C>T	ENST00000397574.2	-	8	1144	c.775G>A	c.(775-777)Gcg>Acg	p.A259T	IRF7_ENST00000525445.1_Missense_Mutation_p.A153T|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Missense_Mutation_p.A230T|IRF7_ENST00000330243.5_Missense_Mutation_p.A272T|IRF7_ENST00000397566.1_Missense_Mutation_p.A272T|IRF7_ENST00000397570.1_Missense_Mutation_p.A230T	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	259					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGGGGCCGCGGCCTCGCCT	0.682																																																	0													23.0	25.0	25.0					11																	613857		2186	4292	6478	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.775G>A	11.37:g.613857C>T	ENSP00000380704:p.Ala259Thr		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.A272T	ENST00000397574.2	37	c.814	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.622624	0.00820	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.95918	-2.93;-3.85;-3.85;-3.82;-3.85;-3.82	2.06	-4.12	0.03916	.	.	.	.	.	D	0.83857	0.5345	N	0.08118	0	0.21184	N	0.999761	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.69363	-0.5165	9	0.21540	T	0.41	0.0069	0.7963	0.01067	0.2214:0.1284:0.2052:0.445	.	153;230;259;272	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	T	153;230;230;272;259;272	ENSP00000434009:A153T;ENSP00000331803:A230T;ENSP00000380700:A230T;ENSP00000380697:A272T;ENSP00000380704:A259T;ENSP00000329411:A272T	ENSP00000329411:A272T	A	-	1	0	IRF7	603857	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.447000	0.06828	-2.787000	0.00358	-2.024000	0.00429	GCG	IRF7	-	NULL		0.682	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		613857	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	missense	SNP	0.000	T
IRF7	3665	genome.wustl.edu	37	11	613863	613863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:613863C>A	ENST00000397574.2	-	8	1138	c.769G>T	c.(769-771)Gag>Tag	p.E257*	IRF7_ENST00000525445.1_Nonsense_Mutation_p.E151*|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Nonsense_Mutation_p.E228*|IRF7_ENST00000330243.5_Nonsense_Mutation_p.E270*|IRF7_ENST00000397566.1_Nonsense_Mutation_p.E270*|IRF7_ENST00000397570.1_Nonsense_Mutation_p.E228*	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	257					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGCGGCCTCGCCTGCATCC	0.677																																																	0													23.0	26.0	25.0					11																	613863		2188	4293	6481	SO:0001587	stop_gained	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.769G>T	11.37:g.613863C>A	ENSP00000380704:p.Glu257*		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Nonsense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E270*	ENST00000397574.2	37	c.808	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.655867	0.96724	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	.	.	.	1.58	0.439	0.16567	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.9926	0.19476	0.0:0.5259:0.4741:0.0	.	.	.	.	X	151;228;228;270;257;270	.	ENSP00000329411:E270X	E	-	1	0	IRF7	603863	0.001000	0.12720	0.001000	0.08648	0.031000	0.12232	0.434000	0.21494	0.124000	0.18369	0.313000	0.20887	GAG	IRF7	-	NULL		0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		613863	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	nonsense	SNP	0.000	A
KIF1B	23095	genome.wustl.edu	37	1	10421080	10421080	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:10421080G>A	ENST00000377086.1	+	39	4351	c.4149G>A	c.(4147-4149)atG>atA	p.M1383I	KIF1B_ENST00000377081.1_Missense_Mutation_p.M1383I|KIF1B_ENST00000263934.6_Missense_Mutation_p.M1337I|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1383					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATCTACATGACCTTGTCGG	0.512																																																	0													169.0	140.0	150.0					1																	10421080		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4149G>A	1.37:g.10421080G>A	ENSP00000366290:p.Met1383Ile		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1337I	ENST00000377086.1	37	c.4011		1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684358	0.68157	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71698	-0.51;-0.59;-0.59	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;P	0.39044	0.003;0.028;0.005;0.024;0.009;0.656	B;B;B;B;B;P	0.51777	0.016;0.027;0.011;0.034;0.007;0.679	T	0.63084	-0.6716	10	0.16896	T	0.51	.	19.9225	0.97093	0.0:0.0:1.0:0.0	.	1369;1343;1383;1357;1383;1337	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1383;1337;1383;1383	ENSP00000263934:M1337I;ENSP00000366290:M1383I;ENSP00000366284:M1383I	ENSP00000263934:M1337I	M	+	3	0	KIF1B	10343667	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.780000	0.95670	0.655000	0.94253	ATG	KIF1B	-	pfam_Kinesin-like		0.512	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10421080	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF27	55582	genome.wustl.edu	37	9	86506263	86506263	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr9:86506263C>T	ENST00000297814.2	-	6	1899	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	KIF27_ENST00000334204.2_Missense_Mutation_p.D586N|KIF27_ENST00000413982.1_Missense_Mutation_p.D586N|KIF27_ENST00000376347.1_5'Flank	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	586					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|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(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAATGAGTATCAAATGGTACA	0.363																																																	0													117.0	118.0	118.0					9																	86506263		2203	4300	6503	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1756G>A	9.37:g.86506263C>T	ENSP00000297814:p.Asp586Asn		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D586N	ENST00000297814.2	37	c.1756	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415783	0.42817	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.55930	0.49;0.49;0.49	4.73	4.73	0.59995	.	0.550760	0.16381	N	0.216887	T	0.39655	0.1086	L	0.41236	1.265	0.24283	N	0.995197	P;P;P	0.38922	0.557;0.646;0.651	B;B;B	0.39152	0.172;0.292;0.118	T	0.19224	-1.0312	10	0.19590	T	0.45	.	6.0255	0.19652	0.0:0.769:0.0:0.231	.	586;586;586	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	586	ENSP00000297814:D586N;ENSP00000401688:D586N;ENSP00000333928:D586N	ENSP00000297814:D586N	D	-	1	0	KIF27	85696083	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	3.460000	0.53028	2.448000	0.82819	0.650000	0.86243	GAT	KIF27	-	NULL		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	C	NM_017576		86506263	-1	no_errors	ENST00000297814	ensembl	human	known	70_37	missense	SNP	0.977	T
KRT6B	3854	genome.wustl.edu	37	12	52843279	52843279	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:52843279C>G	ENST00000252252.3	-	5	1098	c.1051G>C	c.(1051-1053)Gag>Cag	p.E351Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	351	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GACTCAGCCTCAGCCCTGCTC	0.557																																																	0													223.0	197.0	206.0					12																	52843279		2203	4300	6503	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1051G>C	12.37:g.52843279C>G	ENSP00000252252:p.Glu351Gln		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E351Q	ENST00000252252.3	37	c.1051	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817306	0.70912	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.90563	-2.69	3.05	3.05	0.35203	Filament (1);	0.000000	0.64402	D	0.000011	D	0.95971	0.8688	M	0.92412	3.305	0.50171	D	0.999858	D	0.76494	0.999	D	0.70016	0.967	D	0.97124	0.9813	10	0.87932	D	0	.	15.3938	0.74774	0.0:1.0:0.0:0.0	.	351	P04259	K2C6B_HUMAN	Q	351;311	ENSP00000252252:E351Q	ENSP00000252252:E351Q	E	-	1	0	KRT6B	51129546	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.476000	0.81055	2.042000	0.60477	0.298000	0.19748	GAG	KRT6B	-	pfam_F,superfamily_Prefoldin		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	C	NM_005555		52843279	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT4	3851	genome.wustl.edu	37	12	53202174	53202174	+	Silent	SNP	T	T	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:53202174T>C	ENST00000551956.1	-	6	1521	c.1029A>G	c.(1027-1029)caA>caG	p.Q343Q	KRT4_ENST00000458244.2_Silent_p.Q323Q|KRT4_ENST00000293774.4_Silent_p.Q417Q			P19013	K2C4_HUMAN	keratin 4	357	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGTCACCATGTTGGTCAACCG	0.507																																					Pancreas(190;284 2995 41444 45903)												0													108.0	110.0	109.0					12																	53202174		2193	4298	6491	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1029A>G	12.37:g.53202174T>C			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Q417	ENST00000551956.1	37	c.1251	CCDS41787.2	12																																																																																			KRT4	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.507	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	T	NM_002272		53202174	-1	no_errors	ENST00000293774	ensembl	human	known	70_37	silent	SNP	0.003	C
KRTAP10-1	386677	genome.wustl.edu	37	21	45959905	45959905	+	Silent	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:45959905C>G	ENST00000400375.1	-	1	173	c.129G>C	c.(127-129)ctG>ctC	p.L43L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	43	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGACCAGGGTCAGGCAGGGGG	0.706																																																	0													45.0	54.0	51.0					21																	45959905		2201	4280	6481	SO:0001819	synonymous_variant	386677			AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.129G>C	21.37:g.45959905C>G			Q0VAR0|Q0VAR1	Silent	SNP	NULL	p.L43	ENST00000400375.1	37	c.129	CCDS42954.1	21																																																																																			KRTAP10-1	-	NULL		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-1	HGNC	protein_coding	OTTHUMT00000128030.1	C			45959905	-1	no_errors	ENST00000400375	ensembl	human	known	70_37	silent	SNP	0.600	G
LARS2	23395	genome.wustl.edu	37	3	45441741	45441741	+	Missense_Mutation	SNP	C	C	T	rs374194205		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:45441741C>T	ENST00000415258.1	+	3	380	c.239C>T	c.(238-240)tCg>tTg	p.S80L	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Missense_Mutation_p.S80L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	80					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TCCTAGAAATCGAAGCCAAAA	0.388																																																	0								C	LEU/SER	0,4406		0,0,2203	144.0	129.0	134.0		239	4.8	1.0	3		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	LARS2	NM_015340.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	80/904	45441741	1,13005	2203	4300	6503	SO:0001583	missense	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.239C>T	3.37:g.45441741C>T	ENSP00000408576:p.Ser80Leu			Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.S80L	ENST00000415258.1	37	c.239	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086674	0.55861	0.0	1.16E-4	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000430399	T;T;T	0.77877	-1.13;-1.13;1.88	5.64	4.75	0.60458	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.329012	0.29684	N	0.011464	T	0.76637	0.4015	M	0.71920	2.185	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.74074	-0.3782	10	0.54805	T	0.06	-5.9528	13.5883	0.61944	0.0:0.9243:0.0:0.0757	.	80	Q15031	SYLM_HUMAN	L	80	ENSP00000265537:S80L;ENSP00000408576:S80L;ENSP00000401388:S80L	ENSP00000265537:S80L	S	+	2	0	LARS2	45416745	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.064000	0.57506	1.356000	0.45884	0.650000	0.86243	TCG	LARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-ligase_bac/mito		0.388	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	C	NM_015340		45441741	+1	no_errors	ENST00000265537	ensembl	human	known	70_37	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000213.1	138882	138882	+	IGR	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chrGL000213.1:138882G>A								None (None upstream) : None (None downstream)																							TCTTCTCGACGGACGTGGTAC	0.587																																																	0																																										SO:0001628	intergenic_variant	100288966																															GL000213.1.37:g.138882G>A				Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R136C		37	c.406		GL000213.1																																																																																			BX072566.1	-	NULL	0	0.587					LOC100288966	Clone_based_ensembl_gene			G			138882	-1	no_errors	ENST00000327822	ensembl	human	known	70_37	missense	SNP	NULL	A
LPL	4023	genome.wustl.edu	37	8	19809403	19809403	+	Missense_Mutation	SNP	G	G	A	rs199675233		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:19809403G>A	ENST00000311322.8	+	3	843	c.373G>A	c.(373-375)Gcg>Acg	p.A125T		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	125					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.A125T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CCCAGTGTCCGCGGGCTACAC	0.532																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	HM971397	LPL	M							117.0	106.0	110.0					8																	19809403		2203	4300	6503	SO:0001583	missense	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.373G>A	8.37:g.19809403G>A	ENSP00000309757:p.Ala125Thr		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.A125T	ENST00000311322.8	37	c.373	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790048	0.90367	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000311322;ENST00000538071;ENST00000535763	D;D;D	0.89810	-2.57;-2.57;-2.57	5.91	5.91	0.95273	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	M	0.65975	2.015	0.39805	D	0.972622	D	0.89917	1.0	D	0.74023	0.982	D	0.92642	0.6125	8	.	.	.	-15.5229	17.7894	0.88547	0.0:0.0:1.0:0.0	.	125	P06858	LIPL_HUMAN	T	49;125;125;49;111	ENSP00000428496:A49T;ENSP00000428237:A125T;ENSP00000309757:A125T	.	A	+	1	0	LPL	19853683	1.000000	0.71417	0.988000	0.46212	0.673000	0.39480	9.688000	0.98670	2.805000	0.96524	0.460000	0.39030	GCG	LPL	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase,tigrfam_Lipo_Lipase		0.532	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	G			19809403	+1	no_errors	ENST00000311322	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK13	5603	genome.wustl.edu	37	6	36106799	36106799	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:36106799G>C	ENST00000211287.4	+	11	1247	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E319Q|Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	329					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGATTCCTTAGAACACGAGAA	0.602																																																	0													53.0	55.0	54.0					6																	36106799		2203	4300	6503	SO:0001583	missense	5603			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.985G>C	6.37:g.36106799G>C	ENSP00000211287:p.Glu329Gln		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK	p.E329Q	ENST00000211287.4	37	c.985	CCDS4818.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274888	0.80580	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.61510	0.1;0.1	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000020	T	0.69744	0.3145	M	0.76938	2.355	0.80722	D	1	D	0.60160	0.987	P	0.59703	0.862	T	0.74763	-0.3555	10	0.72032	D	0.01	-28.2878	18.6501	0.91428	0.0:0.0:1.0:0.0	.	329	O15264	MK13_HUMAN	Q	319;329;274	ENSP00000362866:E319Q;ENSP00000211287:E329Q	ENSP00000211287:E329Q	E	+	1	0	MAPK13	36214777	1.000000	0.71417	0.786000	0.31890	0.922000	0.55478	9.706000	0.98722	2.392000	0.81423	0.561000	0.74099	GAA	MAPK13	-	superfamily_Kinase-like_dom		0.602	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK13	HGNC	protein_coding	OTTHUMT00000040328.1	G			36106799	+1	no_errors	ENST00000211287	ensembl	human	known	70_37	missense	SNP	1.000	C
MGAM	8972	genome.wustl.edu	37	7	141730555	141730555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:141730555G>T	ENST00000549489.2	+	12	1563	c.1468G>T	c.(1468-1470)Gag>Tag	p.E490*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.E490*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	490	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCATTGGGGAGGTAACTTA	0.468																																																	0													64.0	59.0	60.0					7																	141730555		1900	4128	6028	SO:0001587	stop_gained	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1468G>T	7.37:g.141730555G>T	ENSP00000447378:p.Glu490*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E490*	ENST00000549489.2	37	c.1468	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792984	0.90453	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.99	0.902	0.19290	.	0.343612	0.25022	N	0.033749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2028	0.15275	0.2435:0.2829:0.4736:0.0	.	.	.	.	X	490;490;367	.	ENSP00000316431:E367X	E	+	1	0	MGAM	141377024	1.000000	0.71417	0.986000	0.45419	0.132000	0.20833	2.006000	0.40874	0.245000	0.21373	-0.302000	0.09304	GAG	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141730555	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MMP2	4313	genome.wustl.edu	37	16	55525827	55525827	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:55525827G>C	ENST00000219070.4	+	8	1804	c.1295G>C	c.(1294-1296)cGt>cCt	p.R432P	MMP2_ENST00000543485.1_Missense_Mutation_p.R356P|MMP2_ENST00000437642.2_Missense_Mutation_p.R382P|MMP2_ENST00000570308.1_Missense_Mutation_p.R356P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	432	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AAGAACTTCCGTCTGTCCCAG	0.617																																																	0													51.0	52.0	52.0					16																	55525827		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1295G>C	16.37:g.55525827G>C	ENSP00000219070:p.Arg432Pro		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.R432P	ENST00000219070.4	37	c.1295	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458197	0.43634	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.22539	1.95;1.95;1.95	5.23	5.23	0.72850	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	N	0.22421	0.69	0.80722	D	1	B;D	0.89917	0.027;1.0	B;D	0.87578	0.03;0.998	T	0.06215	-1.0839	10	0.22109	T	0.4	.	18.807	0.92041	0.0:0.0:1.0:0.0	.	382;432	E9PE45;P08253	.;MMP2_HUMAN	P	432;356;382	ENSP00000219070:R432P;ENSP00000444143:R356P;ENSP00000394237:R382P	ENSP00000219070:R432P	R	+	2	0	MMP2	54083328	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.005000	0.57075	2.442000	0.82660	0.467000	0.42956	CGT	MMP2	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.617	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	G			55525827	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH10	4628	genome.wustl.edu	37	17	8449919	8449919	+	Silent	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:8449919C>G	ENST00000269243.4	-	11	1329	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000379980.4_Silent_p.L413L|MYH10_ENST00000360416.3_Silent_p.L407L|MYH10_ENST00000396239.1_Silent_p.L397L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	397	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGGGGAGTCAGGATGGCCC	0.433																																																	0													91.0	79.0	83.0					17																	8449919		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1191G>C	17.37:g.8449919C>G			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L397	ENST00000269243.4	37	c.1191	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8449919	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.196	G
NAIP	4671	genome.wustl.edu	37	5	70307110	70307110	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:70307110C>G	ENST00000517649.1	-	5	950	c.660G>C	c.(658-660)tgG>tgC	p.W220C	NAIP_ENST00000194097.4_Missense_Mutation_p.W220C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.W220C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	220					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACTTGGGGAACCATTTGGCAT	0.403																																																	0													121.0	104.0	110.0					5																	70307110		2202	4296	6498	SO:0001583	missense	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.660G>C	5.37:g.70307110C>G	ENSP00000428657:p.Trp220Cys		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.W220C	ENST00000517649.1	37	c.660	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697985	0.48307	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04317	3.65;3.65;3.65	2.86	2.86	0.33363	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.21509	0.0518	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03576	-1.1023	9	0.48119	T	0.1	.	13.5868	0.61935	0.0:1.0:0.0:0.0	.	220;220	E7EQW0;Q13075	.;BIRC1_HUMAN	C	220	ENSP00000428657:W220C;ENSP00000443944:W220C;ENSP00000429545:W220C	ENSP00000443944:W220C	W	-	3	0	NAIP	70342866	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.637000	0.54324	1.917000	0.55516	0.205000	0.17691	TGG	NAIP	-	pfam_BIR,smart_BIR,pfscan_BIR		0.403	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	C	NM_004536		70307110	-1	no_errors	ENST00000194097	ensembl	human	known	70_37	missense	SNP	1.000	G
NBEA	26960	genome.wustl.edu	37	13	36026233	36026233	+	Silent	SNP	G	G	T	rs199826709	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr13:36026233G>T	ENST00000400445.3	+	40	6843	c.6309G>T	c.(6307-6309)acG>acT	p.T2103T	NBEA_ENST00000540320.1_Silent_p.T2103T|NBEA_ENST00000379939.2_Silent_p.T2100T|NBEA_ENST00000310336.4_Silent_p.T2103T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.T2103T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTAGGCACGGAAGAAGATG	0.313																																																	1	Substitution - coding silent(1)	lung(1)											77.0	71.0	73.0					13																	36026233		1867	4091	5958	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6309G>T	13.37:g.36026233G>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T2103	ENST00000400445.3	37	c.6309	CCDS45026.1	13																																																																																			NBEA	-	pfam_DUF1088		0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		36026233	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	0.997	T
NFE2L2	4780	genome.wustl.edu	37	2	178098816	178098816	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:178098816C>G	ENST00000397062.3	-	2	783	c.229G>C	c.(229-231)Gat>Cat	p.D77H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D61H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D61H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D61H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D61H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	77					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D77N(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTCTCTTCATCTAGTTGTAAC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											153.0	149.0	150.0					2																	178098816		1894	4105	5999	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.229G>C	2.37:g.178098816C>G	ENSP00000380252:p.Asp77His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D77H	ENST00000397062.3	37	c.229	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486904	0.63962	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	61;61;61;77	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	61;77;61;61;61;61;61	ENSP00000380253:D61H;ENSP00000380252:D77H;ENSP00000411575:D61H;ENSP00000391590:D61H;ENSP00000400073:D61H;ENSP00000412191:D61H;ENSP00000410015:D61H	ENSP00000380252:D77H	D	-	1	0	NFE2L2	177807062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098816	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NKTR	4820	genome.wustl.edu	37	3	42680356	42680356	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:42680356delA	ENST00000232978.8	+	13	3348	c.3160delA	c.(3160-3162)aatfs	p.N1054fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1054					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CATAAAAGATAATATTCTAAA	0.343																																																	0													38.0	44.0	42.0					3																	42680356		2193	4288	6481	SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3160delA	3.37:g.42680356delA	ENSP00000232978:p.Asn1054fs			Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.N1054fs	ENST00000232978.8	37	c.3160	CCDS2702.1	3																																																																																			NKTR	-	NULL		0.343	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	A	NM_005385		42680356	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
NYNRIN	57523	genome.wustl.edu	37	14	24886634	24886634	+	Silent	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr14:24886634C>T	ENST00000382554.3	+	9	5997	c.5679C>T	c.(5677-5679)ttC>ttT	p.F1893F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1893					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGCTGTCCTTCAAGGTCTTGG	0.627																																																	0													8.0	9.0	9.0					14																	24886634		1899	4100	5999	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5679C>T	14.37:g.24886634C>T			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.F1893	ENST00000382554.3	37	c.5679	CCDS45090.1	14																																																																																			NYNRIN	-	NULL		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24886634	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	silent	SNP	0.360	T
OBSL1	23363	genome.wustl.edu	37	2	220432185	220432185	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr2:220432185G>T	ENST00000404537.1	-	4	1703	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L	OBSL1_ENST00000373873.4_Missense_Mutation_p.F549L|OBSL1_ENST00000289656.3_Missense_Mutation_p.F136L|OBSL1_ENST00000603926.1_Missense_Mutation_p.F549L|OBSL1_ENST00000265318.4_Missense_Mutation_p.F549L|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.F549L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	549	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCGGTAGATGAATGGGGTCT	0.617																																																	0													23.0	29.0	27.0					2																	220432185		2008	4169	6177	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1647C>A	2.37:g.220432185G>T	ENSP00000385636:p.Phe549Leu		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F549L	ENST00000404537.1	37	c.1647	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	2.835	-0.241784	0.05906	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.56103	0.71;0.64;0.58;0.48;1.05	4.92	-1.55	0.08558	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31734	0.0806	N	0.08118	0	0.20703	N	0.999863	P;P;P;P	0.46621	0.881;0.803;0.634;0.794	P;P;B;B	0.47162	0.471;0.54;0.204;0.31	T	0.22941	-1.0202	9	0.07990	T	0.79	.	10.3357	0.43847	0.4742:0.0:0.5258:0.0	.	550;549;136;549	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	L	549;549;549;549;136	ENSP00000265318:F549L;ENSP00000385636:F549L;ENSP00000362983:F549L;ENSP00000362980:F549L;ENSP00000289656:F136L	ENSP00000265318:F549L	F	-	3	2	OBSL1	220140429	0.010000	0.17322	0.993000	0.49108	0.957000	0.61999	-0.242000	0.08928	-0.175000	0.10725	0.561000	0.74099	TTC	OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	G			220432185	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.262	T
OR8H3	390152	genome.wustl.edu	37	11	55890080	55890080	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:55890080G>A	ENST00000313472.3	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.448																																																	0													277.0	274.0	275.0					11																	55890080		2201	4293	6494	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.232G>A	11.37:g.55890080G>A	ENSP00000323928:p.Val78Ile		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V78I	ENST00000313472.3	37	c.232	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023386	0.00414	.	.	ENSG00000181761	ENST00000313472	T	0.01406	4.93	3.44	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	N	0.000047	T	0.00666	0.0022	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49031	-0.8981	10	0.02654	T	1	.	7.2605	0.26201	0.7163:0.0:0.2837:0.0	.	78	Q8N146	OR8H3_HUMAN	I	78	ENSP00000323928:V78I	ENSP00000323928:V78I	V	+	1	0	OR8H3	55646656	0.001000	0.12720	0.784000	0.31847	0.223000	0.24884	1.399000	0.34566	0.334000	0.23590	-1.467000	0.01014	GTC	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	G	NM_001005201		55890080	+1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	0.003	A
PCDHA13	56136	genome.wustl.edu	37	5	140263676	140263677	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:140263676_140263677CG>TA	ENST00000289272.2	+	1	1823_1824	c.1823_1824CG>TA	c.(1822-1824)tCG>tTA	p.S608L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S608L|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAATTGC	0.683																																					Melanoma(147;1739 1852 5500 27947 37288)												0																																										SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	Exception_encountered	5.37:g.140263676_140263677delinsTA	ENSP00000289272:p.Ser608Leu		O75277	Missense_Mutation|Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S608L|p.S608	ENST00000289272.2	37	c.1823|c.1824	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.683	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C|G	NM_018904		140263676|140263677	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	missense|silent	SNP	0.964|0.009	T|A
PDE3A	5139	genome.wustl.edu	37	12	20766487	20766487	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr12:20766487G>C	ENST00000359062.3	+	3	1162	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	374					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCACATCCTTGAGAGCCGTGA	0.552																																																	0													108.0	98.0	102.0					12																	20766487		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1122G>C	12.37:g.20766487G>C	ENSP00000351957:p.Leu374Phe		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L374F	ENST00000359062.3	37	c.1122	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358511	0.82243	.	.	ENSG00000172572	ENST00000359062	T	0.53206	0.63	5.87	4.97	0.65823	.	1.328570	0.05953	N	0.639161	T	0.71005	0.3289	M	0.73598	2.24	0.49798	D	0.999822	D	0.76494	0.999	D	0.87578	0.998	T	0.60772	-0.7197	10	0.87932	D	0	.	12.1153	0.53861	0.1342:0.0:0.8658:0.0	.	374	Q14432	PDE3A_HUMAN	F	374	ENSP00000351957:L374F	ENSP00000351957:L374F	L	+	3	2	PDE3A	20657754	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	TTG	PDE3A	-	NULL		0.552	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20766487	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	C
PHC3	80012	genome.wustl.edu	37	3	169896685	169896685	+	Missense_Mutation	SNP	G	G	A	rs368703405		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:169896685G>A	ENST00000494943.1	-	2	88	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PHC3_ENST00000467570.1_Missense_Mutation_p.P19L|PHC3_ENST00000481639.1_Missense_Mutation_p.P19L|PHC3_ENST00000495893.2_Missense_Mutation_p.P19L|PHC3_ENST00000474275.1_Missense_Mutation_p.P7L|PHC3_ENST00000497658.1_Missense_Mutation_p.P19L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	7					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGATGTTCCCGGGTTTGGTTC	0.448																																																	0								G	LEU/PRO	1,4131		0,1,2065	297.0	304.0	302.0		56	4.1	1.0	3		302	0,8432		0,0,4216	no	missense	PHC3	NM_024947.3	98	0,1,6281	AA,AG,GG		0.0,0.0242,0.0080	benign	19/996	169896685	1,12563	2066	4216	6282	SO:0001583	missense	80012				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.20C>T	3.37:g.169896685G>A	ENSP00000420271:p.Pro7Leu		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.P19L	ENST00000494943.1	37	c.56		3	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855616	0.51376	2.42E-4	0.0	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.32988	1.43;1.45	5.89	4.12	0.48240	.	0.320130	0.27366	N	0.019693	T	0.19886	0.0478	L	0.38175	1.15	0.31865	N	0.620463	B;B;B;B;B;P;B;B	0.34546	0.0;0.0;0.0;0.0;0.0;0.456;0.0;0.0	B;B;B;B;B;B;B;B	0.25291	0.0;0.001;0.0;0.0;0.001;0.059;0.001;0.001	T	0.17077	-1.0381	9	.	.	.	-6.9949	9.7552	0.40500	0.2078:0.0:0.7922:0.0	.	19;19;7;19;19;7;19;19	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	L	7;19;19;19;19;19;7;19;19;19	ENSP00000420271:P7L;ENSP00000420294:P19L	.	P	-	2	0	PHC3	171379379	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	2.478000	0.45189	0.847000	0.35167	-0.258000	0.10820	CCG	PHC3	-	NULL		0.448	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	G	NM_024947		169896685	-1	no_errors	ENST00000495893	ensembl	human	known	70_37	missense	SNP	1.000	A
JADE1	79960	genome.wustl.edu	37	4	129793030	129793030	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr4:129793030G>T	ENST00000226319.6	+	11	2422	c.2142G>T	c.(2140-2142)agG>agT	p.R714S	PHF17_ENST00000512960.1_Missense_Mutation_p.R714S|PHF17_ENST00000452328.2_Missense_Mutation_p.R702S	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGCACAAGGAAGGAGATAG	0.527																																																	0													48.0	50.0	49.0					4																	129793030		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.2142G>T	4.37:g.129793030G>T	ENSP00000226319:p.Arg714Ser			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R714S	ENST00000226319.6	37	c.2142	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248364	0.10130	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960	T;T;T	0.46063	0.88;0.9;0.88	4.32	3.47	0.39725	.	0.273454	0.38217	N	0.001779	T	0.26304	0.0642	L	0.27053	0.805	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.05699	-1.0869	9	.	.	.	.	9.0264	0.36232	0.1685:0.0:0.8315:0.0	.	702;714	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	S	714;702;714	ENSP00000226319:R714S;ENSP00000388015:R702S;ENSP00000425730:R714S	.	R	+	3	2	PHF17	130012480	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	3.014000	0.49590	1.162000	0.42619	-0.258000	0.10820	AGG	PHF17	-	NULL		0.527	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	G			129793030	+1	no_errors	ENST00000226319	ensembl	human	known	70_37	missense	SNP	0.974	T
PHKA2	5256	genome.wustl.edu	37	X	18961874	18961874	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chrX:18961874C>T	ENST00000379942.4	-	7	1336	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	224					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CACTGACTTGCGTCCTCCATG	0.468																																																	0													210.0	170.0	184.0					X																	18961874		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.671G>A	X.37:g.18961874C>T	ENSP00000369274:p.Arg224His		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R224H	ENST00000379942.4	37	c.671	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027548	0.54683	.	.	ENSG00000044446	ENST00000379942	D	0.93604	-3.25	5.71	5.71	0.89125	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.105846	0.64402	D	0.000007	D	0.83445	0.5256	N	0.11106	0.095	0.38884	D	0.956965	B	0.13145	0.007	B	0.13407	0.009	T	0.77795	-0.2454	10	0.32370	T	0.25	-13.9267	5.6733	0.17735	0.0:0.6774:0.1869:0.1357	.	224	P46019	KPB2_HUMAN	H	224	ENSP00000369274:R224H	ENSP00000369274:R224H	R	-	2	0	PHKA2	18871795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.919000	0.48836	2.402000	0.81655	0.600000	0.82982	CGC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.468	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		18961874	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88783292	88783292	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:88783292C>G	ENST00000301015.9	-	46	6921	c.6675G>C	c.(6673-6675)atG>atC	p.M2225I	RP5-1142A6.9_ENST00000564984.1_RNA|MIR4722_ENST00000578292.1_RNA|PIEZO1_ENST00000327397.7_Missense_Mutation_p.M93I	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	2225			M -> R (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). {ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23487776}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GCTGGGCGCTCATGGTGAACA	0.677																																																	0													36.0	49.0	45.0					16																	88783292		692	1590	2282	SO:0001583	missense	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.6675G>C	16.37:g.88783292C>G	ENSP00000301015:p.Met2225Ile		A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.M93I	ENST00000301015.9	37	c.279	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.549018|4.549018	0.86127|0.86127	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000451779|ENST00000301015;ENST00000327397	.|T;T	.|0.72167	.|-0.63;-0.63	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81192|0.81192	0.4771|0.4771	M|M	0.77406|0.77406	2.37|2.37	0.58432|0.58432	D|D	0.999996|0.999996	.|B;D;D	.|0.58970	.|0.241;0.984;0.984	.|B;P;P	.|0.57846	.|0.387;0.828;0.828	T|T	0.78740|0.78740	-0.2086|-0.2086	5|10	.|0.23302	.|T	.|0.38	-54.5546|-54.5546	17.6779|17.6779	0.88235|0.88235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2225;93;93	.|Q92508;E7EUT2;Q96HU3	.|PIEZ1_HUMAN;.;.	Q|I	2171|2225;93	.|ENSP00000301015:M2225I;ENSP00000333704:M93I	.|ENSP00000301015:M2225I	E|M	-|-	1|3	0|0	FAM38A|FAM38A	87310793|87310793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	5.526000|5.526000	0.67116|0.67116	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GAG|ATG	PIEZO1	-	pfam_DUF3595		0.677	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	C	NM_014745		88783292	-1	no_errors	ENST00000327397	ensembl	human	known	70_37	missense	SNP	1.000	G
PLS1	5357	genome.wustl.edu	37	3	142430847	142430847	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:142430847T>G	ENST00000337777.3	+	16	2101	c.1888T>G	c.(1888-1890)Taa>Gaa	p.*630E	PLS1_ENST00000497002.1_Nonstop_Mutation_p.*630E|PLS1_ENST00000457734.2_Nonstop_Mutation_p.*630E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	0						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CAGAATAAAATAATCATTTCA	0.358																																																	0													90.0	89.0	90.0					3																	142430847		2203	4299	6502	SO:0001578	stop_lost	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1888T>G	3.37:g.142430847T>G	ENSP00000336831:p.*630Gluext*81		A8K2Q1|D3DNG3|Q8NEG6	Nonstop_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.*630E	ENST00000337777.3	37	c.1888	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909729	0.72983	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9507	0.79835	0.0:0.0:0.0:1.0	.	.	.	.	E	630	.	.	X	+	1	0	PLS1	143913537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.772000	0.68889	2.178000	0.69098	0.454000	0.30748	TAA	PLS1	-	NULL		0.358	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	T	NM_002670		142430847	+1	no_errors	ENST00000337777	ensembl	human	known	70_37	nonstop	SNP	1.000	G
PLCH1	23007	genome.wustl.edu	37	3	155206497	155206497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:155206497G>A	ENST00000340059.7	-	19	2454	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R801*|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R819*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R801*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R801*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R819*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	819	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAAAGTCTCGTCCAATGGGA	0.453																																																	0													131.0	108.0	115.0					3																	155206497		2203	4300	6503	SO:0001587	stop_gained	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2455C>T	3.37:g.155206497G>A	ENSP00000345988:p.Arg819*		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R819*	ENST00000340059.7	37	c.2455	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.978495	0.97979	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.76	-0.238	0.13055	.	0.240412	0.39687	N	0.001286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3827	0.90457	0.0:0.0:0.43:0.57	.	.	.	.	X	819;801;819;819;801;801	.	ENSP00000335469:R801X	R	-	1	2	PLCH1	156689191	0.853000	0.29707	0.978000	0.43139	0.961000	0.63080	0.459000	0.21908	0.018000	0.15052	0.655000	0.94253	CGA	PLCH1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155206497	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	nonsense	SNP	0.260	A
PLXNB3	5365	genome.wustl.edu	37	X	153042690	153042691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chrX:153042690_153042691insG	ENST00000361971.5	+	30	5069_5070	c.4955_4956insG	c.(4954-4959)gaggggfs	p.EG1652fs	PLXNB3_ENST00000538966.1_Frame_Shift_Ins_p.EG1675fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.EG1305fs|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1652					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCGAGGAGGGGGGGGTGT	0.693																																																	0																																										SO:0001589	frameshift_variant	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4963dupG	X.37:g.153042698_153042698dupG	ENSP00000355378:p.Glu1652fs		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V1678fs	ENST00000361971.5	37	c.5024_5025	CCDS14729.1	X																																																																																			PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.693	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-			153042691	+1	no_errors	ENST00000538966	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.849	G
POLR2A	5430	genome.wustl.edu	37	17	7388154	7388154	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:7388154G>C	ENST00000322644.6	+	1	470	c.71G>C	c.(70-72)gGa>gCa	p.G24A	POLR2A_ENST00000572844.1_Missense_Mutation_p.G24A|ZBTB4_ENST00000311403.4_5'Flank	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	24					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTCCAGTTCGGAGTCCTGAGT	0.716																																																	0													39.0	35.0	36.0					17																	7388154		2196	4300	6496	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.71G>C	17.37:g.7388154G>C	ENSP00000314949:p.Gly24Ala		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.G24A	ENST00000322644.6	37	c.71	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016898	0.93404	.	.	ENSG00000181222	ENST00000322644	T	0.70045	-0.45	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 1 (1);	0.056508	0.64402	D	0.000001	D	0.84252	0.5431	M	0.87097	2.86	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.987	D	0.86234	0.1639	10	0.72032	D	0.01	.	17.0222	0.86437	0.0:0.0:1.0:0.0	.	24;24	P24928;Q6NX41	RPB1_HUMAN;.	A	24	ENSP00000314949:G24A	ENSP00000314949:G24A	G	+	2	0	SLC35G6	7328878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.379000	0.79691	2.757000	0.94681	0.655000	0.94253	GGA	POLR2A	-	pfam_RNA_pol_Rpb1_1		0.716	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7388154	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPN12	5782	genome.wustl.edu	37	7	77240091	77240091	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:77240091G>C	ENST00000248594.6	+	10	1044	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	PTPN12_ENST00000435495.2_Missense_Mutation_p.E128Q|PTPN12_ENST00000415482.2_Missense_Mutation_p.E139Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	258	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAAAATACCAGAGGAATTTAA	0.269																																																	0													29.0	33.0	31.0					7																	77240091		2111	4244	6355	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.772G>C	7.37:g.77240091G>C	ENSP00000248594:p.Glu258Gln		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E258Q	ENST00000248594.6	37	c.772	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592976	0.86953	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.11385	2.78;3.14;3.15	5.47	5.47	0.80525	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.64260	1.97	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.00872	-1.1532	10	0.66056	D	0.02	.	19.6841	0.95974	0.0:0.0:1.0:0.0	.	258	Q05209	PTN12_HUMAN	Q	258;139;139;128	ENSP00000248594:E258Q;ENSP00000392429:E139Q;ENSP00000397991:E128Q	ENSP00000248594:E258Q	E	+	1	0	PTPN12	77078027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.897000	0.92532	2.714000	0.92807	0.655000	0.94253	GAG	PTPN12	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.269	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	G			77240091	+1	no_errors	ENST00000248594	ensembl	human	known	70_37	missense	SNP	1.000	C
PUS7	54517	genome.wustl.edu	37	7	105103125	105103125	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:105103125T>C	ENST00000356362.2	-	14	1914	c.1700A>G	c.(1699-1701)gAt>gGt	p.D567G	PUS7_ENST00000469408.1_Missense_Mutation_p.D567G	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	567	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CAAGGAATAATCTCGAATTTT	0.358																																					Colon(138;2387 3051 17860)												0													166.0	153.0	158.0					7																	105103125		2203	4300	6503	SO:0001583	missense	54517			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1700A>G	7.37:g.105103125T>C	ENSP00000348722:p.Asp567Gly		Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.D567G	ENST00000356362.2	37	c.1700	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760035	0.89932	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.41065	1.01;1.01	5.62	5.62	0.85841	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.72625	0.951;0.978	T	0.63093	-0.6714	10	0.35671	T	0.21	-27.487	15.0087	0.71533	0.0:0.0:0.0:1.0	.	567;567	B3KY42;Q96PZ0	.;PUS7_HUMAN	G	567	ENSP00000348722:D567G;ENSP00000417402:D567G	ENSP00000348722:D567G	D	-	2	0	PUS7	104890361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.122000	0.65172	0.533000	0.62120	GAT	PUS7	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD		0.358	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	T	NM_019042		105103125	-1	no_errors	ENST00000356362	ensembl	human	known	70_37	missense	SNP	1.000	C
RFX7	64864	genome.wustl.edu	37	15	56435016	56435016	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:56435016C>T	ENST00000559447.2	-	4	341	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RFX7_ENST00000423270.1_Missense_Mutation_p.E121K|RFX7_ENST00000422057.1_Missense_Mutation_p.E24K|RFX7_ENST00000317318.6_Missense_Mutation_p.E121K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	24					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGAAGTCTCCGGATGTTCC	0.393																																																	0													84.0	80.0	81.0					15																	56435016		1889	4120	6009	SO:0001583	missense	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.70G>A	15.37:g.56435016C>T	ENSP00000453281:p.Glu24Lys		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.E121K	ENST00000559447.2	37	c.361		15	.	.	.	.	.	.	.	.	.	.	C	34	5.338477	0.95783	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.82526	-1.62;-1.62;-1.62	6.02	6.02	0.97574	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.85318	0.5669	N	0.17723	0.515	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	D	0.86469	0.1784	10	0.59425	D	0.04	-15.2651	18.0409	0.89318	0.0:1.0:0.0:0.0	.	24	Q2KHR2	RFX7_HUMAN	K	24;121;121	ENSP00000387504:E24K;ENSP00000313299:E121K;ENSP00000397644:E121K	ENSP00000313299:E121K	E	-	1	0	RFX7	54222308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.850000	0.98022	0.650000	0.86243	GAG	RFX7	-	pfam_DNA-bd_RFX		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	C	NM_022841		56435016	-1	no_errors	ENST00000423270	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF111	54778	genome.wustl.edu	37	15	59387334	59387335	+	3'UTR	INS	-	-	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr15:59387334_59387335insT	ENST00000557998.1	+	0	3507_3508				RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000434298.1_3'UTR|RNF111_ENST00000561186.1_3'UTR|RNF111_ENST00000559209.1_3'UTR|RNF111_ENST00000348370.4_3'UTR	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATTTTACTGTATTTTTGCATGG	0.312																																					NSCLC(72;983 1365 10746 34387 47081)												0																																										SO:0001624	3_prime_UTR_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.*236->T	15.37:g.59387339_59387339dupT			C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	RNA	INS	-	NULL	ENST00000557998.1	37	NULL	CCDS58366.1	15																																																																																			RNF111	-	-		0.312	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	NM_017610		59387335	+1	no_errors	ENST00000560080	ensembl	human	known	70_37	rna	INS	1.000:1.000	T
RPUSD3	285367	genome.wustl.edu	37	3	9885374	9885374	+	Intron	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:9885374G>A	ENST00000383820.5	-	2	127				RPUSD3_ENST00000485705.1_Intron|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Intron|RPUSD3_ENST00000424438.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3						pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AAATCCTGCGGCCTCTGACAA	0.577																																																	0																																										SO:0001627	intron_variant	285367			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.126-89C>T	3.37:g.9885374G>A			B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	RNA	SNP	-	NULL	ENST00000383820.5	37	NULL	CCDS2586.2	3																																																																																			RPUSD3	-	-		0.577	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	G	NM_173659		9885374	-1	no_errors	ENST00000473522	ensembl	human	known	70_37	rna	SNP	0.000	A
RRN3	54700	genome.wustl.edu	37	16	15188041	15188041	+	Nonsense_Mutation	SNP	G	G	T	rs142932327	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:15188041G>T	ENST00000198767.6	-	1	133	c.50C>A	c.(49-51)tCg>tAg	p.S17*	PDXDC1_ENST00000535621.2_Intron|RP11-72I8.1_ENST00000569858.1_RNA|RRN3_ENST00000564131.1_Nonsense_Mutation_p.S17*|RRN3_ENST00000429751.2_Nonsense_Mutation_p.S17*|RRN3_ENST00000327307.7_5'Flank|RRN3_ENST00000563559.1_Nonsense_Mutation_p.S17*	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	17					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGCAGAGGACGAAGCGGCCGC	0.632																																																	0													22.0	19.0	20.0					16																	15188041		2197	4298	6495	SO:0001587	stop_gained	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.50C>A	16.37:g.15188041G>T	ENSP00000198767:p.Ser17*		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Nonsense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.S17*	ENST00000198767.6	37	c.50	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	19.46	3.832449	0.71258	.	.	ENSG00000085721	ENST00000198767;ENST00000429751	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.35418	D	0.792972	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8894	0.41281	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000198767:S17X	S	-	2	0	RRN3	15095542	0.031000	0.19500	0.006000	0.13384	0.006000	0.05464	2.744000	0.47450	1.752000	0.51891	0.305000	0.20034	TCG	RRN3	-	NULL		0.632	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	G	NM_018427		15188041	-1	no_errors	ENST00000198767	ensembl	human	known	70_37	nonsense	SNP	0.004	T
RRP15	51018	genome.wustl.edu	37	1	218475649	218475649	+	Silent	SNP	G	G	A	rs145914864	byFrequency	TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:218475649G>A	ENST00000366932.3	+	2	183	c.153G>A	c.(151-153)tcG>tcA	p.S51S	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	51						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCTGTGGATCGGAAAAGGACC	0.453																																																	0													116.0	118.0	117.0					1																	218475649		2203	4300	6503	SO:0001819	synonymous_variant	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.153G>A	1.37:g.218475649G>A				Silent	SNP	pfam_DUF1665	p.S51	ENST00000366932.3	37	c.153	CCDS1520.2	1																																																																																			RRP15	-	NULL		0.453	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	G	NM_016052		218475649	+1	no_errors	ENST00000366932	ensembl	human	known	70_37	silent	SNP	0.000	A
RTN4RL2	349667	genome.wustl.edu	37	11	57235468	57235468	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr11:57235468C>T	ENST00000533205.1	+	2	427	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R140C|RTN4RL2_ENST00000335099.3_Missense_Mutation_p.R140C					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCATTTGTACCGCTGCCAGCT	0.652																																																	0													48.0	49.0	48.0					11																	57235468		2201	4296	6497	SO:0001583	missense	349667			BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.418C>T	11.37:g.57235468C>T	ENSP00000435606:p.Arg140Cys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R140C	ENST00000533205.1	37	c.418		11	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340377	0.81911	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.57907	0.37;0.37;0.37	4.81	4.81	0.61882	.	0.360823	0.19498	N	0.112809	T	0.72598	0.3480	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76061	-0.3097	10	0.87932	D	0	.	17.8619	0.88784	0.0:1.0:0.0:0.0	.	140	Q86UN3	R4RL2_HUMAN	C	140	ENSP00000335397:R140C;ENSP00000435606:R140C;ENSP00000378552:R140C	ENSP00000335397:R140C	R	+	1	0	RTN4RL2	56992044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.648000	0.46647	2.390000	0.81377	0.561000	0.74099	CGC	RTN4RL2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.652	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	RTN4RL2	HGNC	protein_coding	OTTHUMT00000392538.1	C	NM_178570		57235468	+1	no_errors	ENST00000335099	ensembl	human	known	70_37	missense	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30733487	30733487	+	Missense_Mutation	SNP	C	C	T	rs375393051		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr16:30733487C>T	ENST00000262518.4	+	22	3971	c.3586C>T	c.(3586-3588)Cgt>Tgt	p.R1196C	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1196C|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1100C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1196	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACTGGCACAACGTCCAGTGGC	0.547																																																	0													133.0	108.0	116.0					16																	30733487		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3586C>T	16.37:g.30733487C>T	ENSP00000262518:p.Arg1196Cys		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R1196C	ENST00000262518.4	37	c.3586	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930095	0.73327	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92397	-3.03;-2.9;-2.93	4.68	4.68	0.58851	.	0.000000	0.48767	D	0.000171	D	0.92760	0.7698	N	0.24115	0.695	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.987	D	0.93923	0.7207	10	0.66056	D	0.02	-8.3383	16.5291	0.84353	0.0:1.0:0.0:0.0	.	1100;1196;1196	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	C	1196;1196;1100	ENSP00000262518:R1196C;ENSP00000378499:R1196C;ENSP00000343042:R1100C	ENSP00000262518:R1196C	R	+	1	0	SRCAP	30640988	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	3.691000	0.54720	2.414000	0.81942	0.462000	0.41574	CGT	SRCAP	-	NULL		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30733487	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T
TARS2	80222	genome.wustl.edu	37	1	150464809	150464809	+	Intron	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:150464809C>T	ENST00000369064.3	+	7	729				TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTCTTCTGTCAGCTAAAGAC	0.468																																																	0																																										SO:0001627	intron_variant	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.696-78C>T	1.37:g.150464809C>T			Q53GW7|Q96I50|Q9H9V2	RNA	SNP	-	NULL	ENST00000369064.3	37	NULL	CCDS952.1	1																																																																																			TARS2	-	-		0.468	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	C	NM_025150		150464809	+1	no_errors	ENST00000460794	ensembl	human	known	70_37	rna	SNP	0.000	T
TLCD2	727910	genome.wustl.edu	37	17	1611129	1611130	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:1611129_1611130insC	ENST00000330676.6	-	4	924_925	c.729_730insG	c.(727-732)gggaccfs	p.T244fs		NM_001164407.1	NP_001157879.1	A6NGC4	TLCD2_HUMAN	TLC domain containing 2	244						integral component of membrane (GO:0016021)				prostate(1)	1						CGTGTCCTGGTCCCCCTGGTTT	0.569																																																	0																																										SO:0001589	frameshift_variant	727910				CCDS45567.1	17p13.3	2010-10-18			ENSG00000185561	ENSG00000185561			33522	protein-coding gene	gene with protein product						16793762	Standard	NM_001164407		Approved		uc021tnh.1	A6NGC4	OTTHUMG00000132477	ENST00000330676.6:c.730dupG	17.37:g.1611134_1611134dupC	ENSP00000331965:p.Thr244fs			Frame_Shift_Ins	INS	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.T243fs	ENST00000330676.6	37	c.730_729	CCDS45567.1	17																																																																																			TLCD2	-	NULL		0.569	TLCD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TLCD2	HGNC	protein_coding	OTTHUMT00000255644.4	-	NM_001164407		1611130	-1	no_errors	ENST00000330676	ensembl	human	novel	70_37	frame_shift_ins	INS	0.009:0.001	C
POR	5447	genome.wustl.edu	37	7	75616500	75616500	+	IGR	DEL	T	T	-			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr7:75616500delT	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TCAATCCTTCTTGCTCCCGTG	0.597																																																	0													24.0	29.0	27.0					7																	75616500		2052	4193	6245	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616500delT			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			TMEM120A	-	-		0.597	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120A	HGNC	protein_coding	OTTHUMT00000252796.7	T	NM_000941		75616500	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	DEL	0.996	-
TMEM235	283999	genome.wustl.edu	37	17	76227940	76227940	+	5'Flank	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr17:76227940G>A	ENST00000551068.3	+	0	0				TMEM235_ENST00000421688.1_Missense_Mutation_p.G129E|TMEM235_ENST00000374946.3_5'UTR|TMEM235_ENST00000550981.3_5'Flank|TMEM235_ENST00000586400.1_5'UTR			A6NFC5	TM235_HUMAN	transmembrane protein 235							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						GCGACCCCAGGGGGCCCGCGA	0.776																																																	0													3.0	3.0	3.0					17																	76227940		631	1457	2088	SO:0001631	upstream_gene_variant	283999			BC042066	CCDS56048.1, CCDS56046.1, CCDS56047.1	17q25.3	2011-02-18	2011-02-18	2011-02-18	ENSG00000204278	ENSG00000204278			27563	protein-coding gene	gene with protein product							Standard	NM_001204210		Approved		uc002jvk.3	A6NFC5			17.37:g.76227940G>A	Exception_encountered		C9JRE6	Missense_Mutation	SNP	NULL	p.G129E	ENST00000551068.3	37	c.386	CCDS56046.1	17	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249824	0.22880	.	.	ENSG00000204278	ENST00000421688	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.21802	N	0.99953	.	.	.	.	.	.	T	0.37641	-0.9697	5	0.87932	D	0	.	5.7953	0.18383	0.0:0.0:1.0:0.0	.	.	.	.	E	129	.	ENSP00000402790:G129E	G	+	2	0	TMEM235	73739535	0.008000	0.16893	0.008000	0.14137	0.028000	0.11728	0.119000	0.15626	0.970000	0.38263	0.456000	0.33151	GGG	TMEM235	-	NULL		0.776	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1	G	NM_001204211		76227940	+1	no_errors	ENST00000421688	ensembl	human	known	70_37	missense	SNP	0.008	A
TONSL	4796	genome.wustl.edu	37	8	145665491	145665491	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:145665491C>T	ENST00000409379.3	-	11	1422	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	465	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						tcctcatcttcatcttcAGCT	0.657																																																	0													35.0	36.0	36.0					8																	145665491		2202	4296	6498	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1393G>A	8.37:g.145665491C>T	ENSP00000386239:p.Glu465Lys		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E465K	ENST00000409379.3	37	c.1393	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	1.042	-0.678485	0.03378	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.41758	0.99	5.7	4.82	0.62117	.	8.984230	0.00166	N	0.000001	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.28554	-1.0040	10	0.05959	T	0.93	-0.5157	14.5642	0.68162	0.0:0.8528:0.1472:0.0	.	465	Q96HA7	TONSL_HUMAN	K	465	ENSP00000386239:E465K	ENSP00000386239:E465K	E	-	1	0	TONSL	145636299	0.013000	0.17824	0.052000	0.19188	0.010000	0.07245	1.240000	0.32731	1.403000	0.46800	0.655000	0.94253	GAA	TONSL	-	NULL		0.657	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	C	NM_013432		145665491	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.225	T
TRIM67	440730	genome.wustl.edu	37	1	231334860	231334860	+	Missense_Mutation	SNP	G	G	A	rs372931843		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr1:231334860G>A	ENST00000366653.5	+	3	1208	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	TRIM67_ENST00000449018.3_Missense_Mutation_p.R341H|TRIM67_ENST00000366652.2_Missense_Mutation_p.R403H|TRIM67_ENST00000444294.3_Missense_Mutation_p.R403H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	403					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCTTTAACTCGTCAGAAAGCC	0.532																																																	0								G	HIS/ARG	0,4038		0,0,2019	137.0	144.0	142.0		1208	5.6	1.0	1		142	1,8345		0,1,4172	no	missense	TRIM67	NM_001004342.3	29	0,1,6191	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	403/784	231334860	1,12383	2019	4173	6192	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1208G>A	1.37:g.231334860G>A	ENSP00000355613:p.Arg403His		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R403H	ENST00000366653.5	37	c.1208	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.387131	0.95988	0.0	1.2E-4	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70869	-0.52;-0.43;-0.46;-0.52	5.61	5.61	0.85477	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.48362	1.52	0.80722	D	1	P	0.41546	0.754	B	0.34722	0.188	T	0.70550	-0.4841	10	0.62326	D	0.03	.	19.6258	0.95677	0.0:0.0:1.0:0.0	.	403	Q6ZTA4	TRI67_HUMAN	H	403;403;341;403	ENSP00000412124:R403H;ENSP00000355612:R403H;ENSP00000400163:R341H;ENSP00000355613:R403H	ENSP00000355612:R403H	R	+	2	0	TRIM67	229401483	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	9.471000	0.97696	2.638000	0.89438	0.561000	0.74099	CGT	TRIM67	-	smart_Bbox_C		0.532	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231334860	+1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	1.000	A
TSPYL4	23270	genome.wustl.edu	37	6	116574253	116574253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:116574253G>A	ENST00000420283.1	-	1	1008	c.919C>T	c.(919-921)Cga>Tga	p.R307*	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	307					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCCTCATTTCGGAAGTAGGGG	0.537																																																	0													75.0	75.0	75.0					6																	116574253		1931	4152	6083	SO:0001587	stop_gained	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.919C>T	6.37:g.116574253G>A	ENSP00000410943:p.Arg307*		B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	pfam_NAP_family	p.R307*	ENST00000420283.1	37	c.919	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.560161	0.96527	.	.	ENSG00000187189	ENST00000420283	.	.	.	3.83	1.98	0.26296	.	1.103170	0.07343	U	0.881097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0001	8.7113	0.34385	0.0:0.0:0.5861:0.4139	.	.	.	.	X	307	.	ENSP00000410943:R307X	R	-	1	2	TSPYL4	116680946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.839000	0.39220	0.552000	0.29026	0.462000	0.41574	CGA	TSPYL4	-	pfam_NAP_family		0.537	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	G			116574253	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TSSK4	283629	genome.wustl.edu	37	14	24676444	24676444	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr14:24676444C>T	ENST00000287913.6	+	3	701	c.533C>T	c.(532-534)cCt>cTt	p.P178L	TSSK4_ENST00000339917.5_Missense_Mutation_p.P188L|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000556621.1_Missense_Mutation_p.P102L|CHMP4A_ENST00000542700.2_5'Flank			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TCTAACCAGCCTGTGGGTTGT	0.502																																																	0													217.0	182.0	193.0					14																	24676444		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.533C>T	14.37:g.24676444C>T	ENSP00000287913:p.Pro178Leu		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	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,pfscan_Prot_kinase_cat_dom	p.P188L	ENST00000287913.6	37	c.563	CCDS9618.1	14	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.597836	0.00857	.	.	ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913	T;T;T	0.71103	-0.51;-0.39;-0.54	5.2	3.37	0.38596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.893166	0.09550	N	0.787086	T	0.56485	0.1988	N	0.25890	0.77	0.09310	N	0.999999	B;B;P	0.39576	0.043;0.053;0.679	B;B;B	0.36030	0.031;0.053;0.216	T	0.45760	-0.9239	10	0.54805	T	0.06	.	8.2404	0.31656	0.3196:0.5259:0.1545:0.0	.	188;178;108	Q6SA08-2;Q6SA08;Q8IZN1	.;TSSK4_HUMAN;.	L	188;102;178	ENSP00000339179:P188L;ENSP00000452054:P102L;ENSP00000287913:P178L	ENSP00000287913:P178L	P	+	2	0	TSSK4	23746284	0.091000	0.21658	0.304000	0.25085	0.083000	0.17756	0.381000	0.20619	0.764000	0.33197	-0.152000	0.13540	CCT	TSSK4	-	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,pfscan_Prot_kinase_cat_dom		0.502	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSSK4	HGNC	protein_coding	OTTHUMT00000073139.3	C	NM_174944		24676444	+1	no_errors	ENST00000339917	ensembl	human	known	70_37	missense	SNP	0.003	T
U2AF1	7307	genome.wustl.edu	37	21	44527584	44527584	+	Silent	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr21:44527584G>A	ENST00000291552.4	-	1	113	c.21C>T	c.(19-21)tcC>tcT	p.S7S	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.S7S|U2AF1_ENST00000459639.1_5'Flank|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	7					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGCCGAAGATGGAGGCCAGAT	0.731			Mis		"""CLL, MDS"""																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													19.0	23.0	22.0					21																	44527584		2201	4299	6500	SO:0001819	synonymous_variant	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.21C>T	21.37:g.44527584G>A			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S7	ENST00000291552.4	37	c.21	CCDS13694.1	21																																																																																			U2AF1	-	NULL		0.731	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44527584	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	silent	SNP	1.000	A
VPS37A	137492	genome.wustl.edu	37	8	17123453	17123453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:17123453delC	ENST00000324849.4	+	2	837	c.163delC	c.(163-165)ccafs	p.P55fs	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Frame_Shift_Del_p.P55fs	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	55					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATACAGATTGCCATTCACCAT	0.289																																																	0													108.0	108.0	108.0					8																	17123453		2203	4293	6496	SO:0001589	frameshift_variant	137492				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.163delC	8.37:g.17123453delC	ENSP00000318629:p.Pro55fs		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Frame_Shift_Del	DEL	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.P55fs	ENST00000324849.4	37	c.163	CCDS6001.1	8																																																																																			VPS37A	-	NULL		0.289	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	C	NM_152415		17123453	+1	no_errors	ENST00000324849	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
XCR1	2829	genome.wustl.edu	37	3	46063368	46063368	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr3:46063368G>T	ENST00000309285.3	-	2	428	c.72C>A	c.(70-72)aaC>aaA	p.N24K	XCR1_ENST00000542109.1_Missense_Mutation_p.N24K	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	24					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAGGCCTGGTTCTCACACG	0.567																																																	0													87.0	87.0	87.0					3																	46063368		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.72C>A	3.37:g.46063368G>T	ENSP00000310405:p.Asn24Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.N24K	ENST00000309285.3	37	c.72	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	G	3.807	-0.040423	0.07497	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.65732	-0.17;-0.17	5.03	-1.2	0.09554	.	1.838620	0.02385	N	0.079125	T	0.32823	0.0842	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28522	-1.0041	10	0.02654	T	1	.	1.1198	0.01722	0.3343:0.278:0.255:0.1327	.	24	P46094	XCR1_HUMAN	K	24	ENSP00000310405:N24K;ENSP00000438119:N24K	ENSP00000310405:N24K	N	-	3	2	XCR1	46038372	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.512000	0.00957	-0.336000	0.08438	0.650000	0.86243	AAC	XCR1	-	prints_Chemokine_lymphotactin_XCR1		0.567	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	G			46063368	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	T
ZBTB10	65986	genome.wustl.edu	37	8	81412100	81412100	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:81412100G>T	ENST00000430430.1	+	3	2123	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ZBTB10_ENST00000455036.3_Missense_Mutation_p.M448I|ZBTB10_ENST00000426744.2_Missense_Mutation_p.M448I|ZBTB10_ENST00000379091.4_Missense_Mutation_p.M156I	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ATCTTCAAATGAGTGAAGTTG	0.373																																																	0													87.0	81.0	83.0					8																	81412100		1827	4089	5916	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1344G>T	8.37:g.81412100G>T	ENSP00000387462:p.Met448Ile		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M448I	ENST00000430430.1	37	c.1344	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487457	0.84854	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.77	5.77	0.91146	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	L	0.27975	0.815	0.58432	D	0.999999	P;D;D;D	0.63880	0.881;0.985;0.982;0.993	P;D;D;D	0.73708	0.863;0.977;0.961;0.981	T	0.73490	-0.3966	10	0.72032	D	0.01	.	20.0562	0.97651	0.0:0.0:1.0:0.0	.	304;448;448;156	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	I	156;448;448;448;276	ENSP00000368384:M156I;ENSP00000387462:M448I;ENSP00000412036:M448I;ENSP00000416134:M448I	ENSP00000368384:M156I	M	+	3	0	ZBTB10	81574655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.758000	0.94735	0.644000	0.83932	ATG	ZBTB10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.373	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	G	NM_023929		81412100	+1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFAND3	60685	genome.wustl.edu	37	6	38120554	38120554	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:38120554G>A	ENST00000287218.4	+	0	1520				ZFAND3_ENST00000373391.2_3'UTR|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3								DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TTCCCACGACGCACATGGCTT	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	60685			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.*389G>A	6.37:g.38120554G>A			Q5SZZ0|Q5SZZ1	RNA	SNP	-	NULL	ENST00000287218.4	37	NULL	CCDS4836.1	6																																																																																			ZFAND3	-	-		0.463	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND3	HGNC	protein_coding	OTTHUMT00000040424.3	G	NM_021943		38120554	+1	no_errors	ENST00000440482	ensembl	human	known	70_37	rna	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77763576	77763576	+	Silent	SNP	C	C	T	rs540974936		TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr8:77763576C>T	ENST00000521891.2	+	10	4867	c.4419C>T	c.(4417-4419)agC>agT	p.S1473S	ZFHX4_ENST00000455469.2_Silent_p.S1428S|ZFHX4_ENST00000050961.6_Silent_p.S1428S|ZFHX4_ENST00000518282.1_Silent_p.S1447S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1428					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)			GGGCAGAGAGCGAAACTATGT	0.493										HNSCC(33;0.089)			c|||	1	0.000199681	0.0008	0.0	5008	,	,		19900	0.0		0.0	False		,,,				2504	0.0																0													46.0	43.0	44.0					8																	77763576		2009	4183	6192	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.4419C>T	8.37:g.77763576C>T			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.S1473	ENST00000521891.2	37	c.4419	CCDS47878.2	8																																																																																			ZFHX4	-	NULL		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77763576	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	silent	SNP	0.958	T
ZFP62	643836	genome.wustl.edu	37	5	180277836	180277836	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr5:180277836G>T	ENST00000502412.1	-	2	716	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	ZFP62_ENST00000359141.6_Missense_Mutation_p.S160Y|ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Missense_Mutation_p.S187Y	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCCCCAGAATGGGTGCT	0.463																																																	0													19.0	21.0	20.0					5																	180277836		692	1591	2283	SO:0001583	missense	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.659C>A	5.37:g.180277836G>T	ENSP00000423820:p.Ser220Tyr		B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S187Y	ENST00000502412.1	37	c.560	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	16.35	3.097280	0.56075	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.19938	2.11;2.11;2.11	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49321	0.1550	M	0.87758	2.905	0.37907	D	0.931259	D	0.65815	0.995	D	0.66497	0.944	T	0.62586	-0.6823	9	0.87932	D	0	.	14.4245	0.67204	0.0:0.0:1.0:0.0	.	220	Q8NB50	ZFP62_HUMAN	Y	187;160;220;14	ENSP00000426193:S187Y;ENSP00000352053:S160Y;ENSP00000423820:S220Y	ENSP00000352053:S160Y	S	-	2	0	ZFP62	180210442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	2.542000	0.85734	0.637000	0.83480	TCT	ZFP62	-	pfscan_Znf_C2H2		0.463	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	G	NM_152283		180277836	-1	no_errors	ENST00000512132	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF318	24149	genome.wustl.edu	37	6	43307899	43307899	+	Silent	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr6:43307899C>T	ENST00000361428.2	-	10	3914	c.3837G>A	c.(3835-3837)aaG>aaA	p.K1279K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1279	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTCTGGCTTCTTCCAGCTGA	0.383																																																	0													151.0	155.0	154.0					6																	43307899		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3837G>A	6.37:g.43307899C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.K1279	ENST00000361428.2	37	c.3837	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.383	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43307899	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF730	100129543	genome.wustl.edu	37	19	23318765	23318765	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:23318765A>T	ENST00000597761.2	+	3	345	c.146A>T	c.(145-147)aAg>aTg	p.K49M	ZNF730_ENST00000593635.1_Missense_Mutation_p.K17M	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCTGTCTCAAAGCCAGACCTG	0.388																																																	0																																										SO:0001583	missense	100129543			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.146A>T	19.37:g.23318765A>T	ENSP00000472959:p.Lys49Met			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.K49M	ENST00000597761.2	37	c.146	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	A	8.945	0.966674	0.18659	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.47	0.47	0.16747	.	.	.	.	.	T	0.61714	0.2369	M	0.88842	2.985	0.09310	N	1	.	.	.	.	.	.	T	0.55490	-0.8133	5	0.87932	D	0	.	.	.	.	.	.	.	.	M	49	.	ENSP00000329365:K49M	K	+	2	0	ZNF730	23110605	0.017000	0.18338	0.015000	0.15790	0.015000	0.08874	2.120000	0.41968	0.432000	0.26286	0.254000	0.18369	AAG	ZNF730	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	A	XM_001719792		23318765	+1	no_errors	ENST00000327867	ensembl	human	known	70_37	missense	SNP	0.017	T
ZNF793	390927	genome.wustl.edu	37	19	38024296	38024296	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PI-01A-11D-A18J-09	TCGA-EK-A2PI-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	259fea6c-0386-431c-8735-27ba978a28ee	0b319d95-644c-4b1b-8e96-36f215a5732d	g.chr19:38024296C>T	ENST00000587143.1	+	5	464	c.229C>T	c.(229-231)Cac>Tac	p.H77Y	ZNF793_ENST00000542455.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000445217.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000587986.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000589319.1_Missense_Mutation_p.H77Y|ZNF793_ENST00000588578.1_Missense_Mutation_p.H77Y			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCGGGCTGCCACTGTTGGGG	0.493																																					Melanoma(44;400 1431 1499 19093)												0													71.0	73.0	72.0					19																	38024296		1928	4130	6058	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.229C>T	19.37:g.38024296C>T	ENSP00000468605:p.His77Tyr		E9PGN4|Q7Z3Q9	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.H77Y	ENST00000587143.1	37	c.229	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748724	0.15710	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.06768	3.26;3.26	3.46	1.07	0.20283	Krueppel-associated box (1);	0.463064	0.16068	N	0.231155	T	0.02848	0.0085	N	0.17474	0.49	0.23754	N	0.996936	P;B	0.35745	0.518;0.376	B;B	0.29176	0.099;0.042	T	0.32402	-0.9908	10	0.02654	T	1	.	3.4884	0.07629	0.2502:0.6118:0.0:0.138	.	77;77	Q6ZN11;E9PGN4	ZN793_HUMAN;.	Y	77;77;77;76	ENSP00000444355:H77Y;ENSP00000396402:H77Y	ENSP00000318811:H76Y	H	+	1	0	ZNF793	42716136	0.312000	0.24545	0.992000	0.48379	0.814000	0.46013	-0.158000	0.10070	0.766000	0.33244	0.462000	0.41574	CAC	ZNF793	-	pfscan_Krueppel-associated_box		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	C	NM_001013659		38024296	+1	no_errors	ENST00000445217	ensembl	human	known	70_37	missense	SNP	0.953	T
