#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_ensembl_gene_id	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_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA1	19	genome.wustl.edu	37	9	107562106	107562106	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:107562106A>T	ENST00000374736.3	-	36	5331	c.4937T>A	c.(4936-4938)gTg>gAg	p.V1646E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1646					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTACAGAGCCACCTCTGAGAG	0.498																																																	0													131.0	117.0	122.0					9																	107562106		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4937T>A	9.37:g.107562106A>T	ENSP00000363868:p.Val1646Glu		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1646E	ENST00000374736.3	37	c.4937	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905299	0.72868	.	.	ENSG00000165029	ENST00000374736	D	0.86627	-2.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	L	0.41079	1.255	0.80722	D	1	B	0.33494	0.414	P	0.45449	0.481	D	0.83545	0.0098	10	0.22109	T	0.4	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	1646	O95477	ABCA1_HUMAN	E	1646	ENSP00000363868:V1646E	ENSP00000363868:V1646E	V	-	2	0	ABCA1	106601927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.333000	0.79357	0.533000	0.62120	GTG	ABCA1	-	NULL	ENSG00000165029		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1		0.00	66	0	A	NM_005502		107562106	-1			no_errors	ENST00000374736	ensembl	human	known	74_37	missense	20.29	54	14	SNP	1.000	T
ACIN1	22985	genome.wustl.edu	37	14	23559205	23559205	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:23559205C>A	ENST00000262710.1	-	4	923	c.596G>T	c.(595-597)aGc>aTc	p.S199I	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Missense_Mutation_p.S199I|ACIN1_ENST00000605057.1_Missense_Mutation_p.S141I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	199	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S199T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGAATGTCTGCTGAGCTCCAG	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											65.0	46.0	53.0					14																	23559205		2203	4300	6503	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.596G>T	14.37:g.23559205C>A	ENSP00000262710:p.Ser199Ile		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S199I	ENST00000262710.1	37	c.596	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379836	0.42207	.	.	ENSG00000100813	ENST00000262710;ENST00000555053	T;T	0.15834	2.39;2.39	4.86	3.95	0.45737	.	0.000000	0.45867	D	0.000333	T	0.10252	0.0251	N	0.22421	0.69	0.80722	D	1	P;P	0.38677	0.642;0.51	B;B	0.35278	0.199;0.058	T	0.09292	-1.0681	10	0.34782	T	0.22	-7.692	9.306	0.37876	0.0:0.8991:0.0:0.1009	.	199;199	G3V3M7;Q9UKV3	.;ACINU_HUMAN	I	199	ENSP00000262710:S199I;ENSP00000451328:S199I	ENSP00000262710:S199I	S	-	2	0	ACIN1	22629045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.243000	0.43115	2.534000	0.85438	0.484000	0.47621	AGC	ACIN1	-	NULL	ENSG00000100813		0.567	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0.00	28	0	C	NM_014977		23559205	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
ACTR8	93973	genome.wustl.edu	37	3	53910032	53910032	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:53910032C>T	ENST00000335754.3	-	7	954	c.854G>A	c.(853-855)gGg>gAg	p.G285E	ACTR8_ENST00000482349.1_Missense_Mutation_p.G174E|ACTR8_ENST00000231909.7_Missense_Mutation_p.G35E	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	285					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTTCTGGTCCCCAACGTCTAC	0.522																																																	0													163.0	145.0	151.0					3																	53910032		2203	4300	6503	SO:0001583	missense	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.854G>A	3.37:g.53910032C>T	ENSP00000336842:p.Gly285Glu		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.G285E	ENST00000335754.3	37	c.854	CCDS2875.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.201043|5.201043	0.94997|0.94997	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909|ENST00000486794	D;D;D|D	0.99887|0.99888	-5.15;-5.15;-7.53|-7.54	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99902|0.99902	0.9953|0.9953	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.96713|0.96713	0.9527|0.9527	10|8	0.87932|0.87932	D|D	0|0	5.7132|5.7132	18.7629|18.7629	0.91860|0.91860	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;35|.	Q9H981;Q9H981-3|.	ARP8_HUMAN;.|.	E|R	285;174;35|84	ENSP00000336842:G285E;ENSP00000419429:G174E;ENSP00000231909:G35E|ENSP00000417230:G84R	ENSP00000231909:G35E|ENSP00000417230:G84R	G|G	-|-	2|1	0|0	ACTR8|ACTR8	53885072|53885072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|GGG	ACTR8	-	pfam_Actin-related,smart_Actin-related	ENSG00000113812		0.522	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2		0.00	39	0	C	NM_022899		53910032	-1			no_errors	ENST00000335754	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84651856	84651856	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:84651856C>T	ENST00000286744.5	+	21	3700	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1159F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1159						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAGTGTGTCCCAAAGCTCG	0.517																																																	0													52.0	51.0	52.0					15																	84651856		2203	4300	6503	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3476C>T	15.37:g.84651856C>T	ENSP00000286744:p.Ser1159Phe		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.S1159F	ENST00000286744.5	37	c.3476	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490290	0.44249	.	.	ENSG00000156218	ENST00000286744	T	0.65549	-0.16	5.23	5.23	0.72850	.	0.267871	0.19965	N	0.102122	T	0.45074	0.1324	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.38373	-0.9664	10	0.46703	T	0.11	.	13.1556	0.59516	0.0:0.923:0.0:0.077	.	1159;1159	P82987-2;P82987	.;ATL3_HUMAN	F	1159	ENSP00000286744:S1159F	ENSP00000286744:S1159F	S	+	2	0	ADAMTSL3	82442860	0.077000	0.21312	0.046000	0.18839	0.330000	0.28571	1.084000	0.30828	2.422000	0.82143	0.557000	0.71058	TCC	ADAMTSL3	-	NULL	ENSG00000156218		0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2		0.00	22	0	C	NM_207517		84651856	+1			no_errors	ENST00000286744	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.024	T
ADRA1A	148	genome.wustl.edu	37	8	26721982	26721982	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:26721982C>A	ENST00000519229.1	-	1	511	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	ADRA1A_ENST00000354550.4_Missense_Mutation_p.A169S|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A169S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A169S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A169S|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A169S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A169S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A169S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A169S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A169S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCCTCGGGGGCCGGCTGCCTC	0.627																																																	0													34.0	39.0	37.0					8																	26721982		2203	4300	6503	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.505G>T	8.37:g.26721982C>A	ENSP00000430793:p.Ala169Ser		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.A169S	ENST00000519229.1	37	c.505		8	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400360	0.42613	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.35	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.206220	0.42420	D	0.000717	T	0.32852	0.0843	L	0.31664	0.95	0.49483	D	0.999794	P;P;B;P;P;B	0.39940	0.486;0.486;0.146;0.696;0.493;0.361	B;B;B;B;B;B	0.42462	0.333;0.333;0.3;0.273;0.116;0.388	T	0.11348	-1.0591	10	0.45353	T	0.12	.	16.3193	0.82939	0.0:0.8679:0.1321:0.0	.	169;169;169;169;169;169	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	S	169	ENSP00000369960:A169S;ENSP00000369961:A169S;ENSP00000369956:A169S;ENSP00000369955:A169S;ENSP00000430793:A169S;ENSP00000346557:A169S;ENSP00000276393:A169S;ENSP00000369947:A169S;ENSP00000369946:A169S;ENSP00000351725:A169S	ENSP00000276393:A169S	A	-	1	0	ADRA1A	26777899	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	3.113000	0.50376	2.646000	0.89796	0.558000	0.71614	GCC	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000120907		0.627	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1		0.00	16	0	C	NM_033303		26721982	-1			no_errors	ENST00000380586	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.998	A
AKT1S1	84335	genome.wustl.edu	37	19	50374931	50374931	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:50374931C>T	ENST00000391833.1	-	3	2489	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	AKT1S1_ENST00000391834.2_Missense_Mutation_p.C167Y|AKT1S1_ENST00000391835.1_Missense_Mutation_p.C187Y|AKT1S1_ENST00000391832.3_Missense_Mutation_p.C167Y|AKT1S1_ENST00000344175.5_Missense_Mutation_p.C167Y|AKT1S1_ENST00000391831.1_Missense_Mutation_p.C167Y	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGGCACTGAGCAGGTGGGGGG	0.652																																																	0													35.0	43.0	41.0					19																	50374931		2202	4294	6496	SO:0001583	missense	0			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.500G>A	19.37:g.50374931C>T	ENSP00000375709:p.Cys167Tyr			Missense_Mutation	SNP	NULL	p.C167Y	ENST00000391833.1	37	c.500	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.043001	0.00039	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.06;1.04	3.6	-4.18	0.03846	.	1.188910	0.05936	N	0.636156	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.02654	T	1	0.1894	7.4981	0.27500	0.0:0.568:0.1654:0.2665	.	167	Q96B36	AKTS1_HUMAN	Y	167;167;167;167;187;167	ENSP00000375709:C167Y;ENSP00000341698:C167Y;ENSP00000375708:C167Y;ENSP00000375710:C167Y;ENSP00000375711:C187Y;ENSP00000375707:C167Y	ENSP00000341698:C167Y	C	-	2	0	AKT1S1	55066743	0.013000	0.17824	0.000000	0.03702	0.010000	0.07245	-0.957000	0.03861	-1.108000	0.03000	-0.302000	0.09304	TGC	AKT1S1	-	NULL	ENSG00000204673		0.652	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0.00	49	0	C	NM_032375		50374931	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense	11.39	70	9	SNP	0.000	T
AMER2	219287	genome.wustl.edu	37	13	25743791	25743791	+	Missense_Mutation	SNP	C	C	A	rs369844022		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr13:25743791C>A	ENST00000515384.1	-	1	2634	c.1967G>T	c.(1966-1968)gGg>gTg	p.G656V	AMER2_ENST00000357816.2_Missense_Mutation_p.G537V|AMER2_ENST00000381853.3_Missense_Mutation_p.G537V			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	656					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GATGGTGGTCCCAGCCAAGCC	0.577																																																	0													53.0	57.0	55.0					13																	25743791		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1967G>T	13.37:g.25743791C>A	ENSP00000426528:p.Gly656Val		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.G656V	ENST00000515384.1	37	c.1967	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607356	0.66558	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.35421	1.41;1.41;1.31	5.97	5.97	0.96955	.	0.066725	0.56097	D	0.000021	T	0.45357	0.1338	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.41752	-0.9491	10	0.72032	D	0.01	-27.4014	12.6927	0.56985	0.0:0.9254:0.0:0.0746	.	656;537	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	V	537;537;656	ENSP00000350469:G537V;ENSP00000371277:G537V;ENSP00000426528:G656V	ENSP00000350469:G537V	G	-	2	0	FAM123A	24641791	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.770000	0.55310	2.837000	0.97791	0.655000	0.94253	GGG	AMER2	-	NULL	ENSG00000165566		0.577	AMER2-002	KNOWN	basic|CCDS	protein_coding	AMER2	HGNC	protein_coding	OTTHUMT00000370229.1		0.00	43	0	C	NM_152704		25743791	-1			no_errors	ENST00000515384	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A
ANGEL2	90806	genome.wustl.edu	37	1	213174199	213174199	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:213174199C>A	ENST00000366962.3	-	6	1344	c.1190G>T	c.(1189-1191)tGg>tTg	p.W397L	ANGEL2_ENST00000544555.1_Missense_Mutation_p.W228L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.W228L|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Missense_Mutation_p.W271L|ANGEL2_ENST00000473303.1_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	397										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GTTTGGGGGCCAAATTGGAAT	0.378																																																	0													80.0	74.0	76.0					1																	213174199		2203	4300	6503	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1190G>T	1.37:g.213174199C>A	ENSP00000355929:p.Trp397Leu		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.W397L	ENST00000366962.3	37	c.1190	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226965	0.79576	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642	T;T;T;T	0.39056	2.02;1.1;1.1;1.66	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.45228	1.405	0.80722	D	1	D;B	0.55605	0.972;0.379	P;B	0.60068	0.868;0.418	T	0.34650	-0.9820	10	0.15952	T	0.53	-10.7555	19.4006	0.94627	0.0:1.0:0.0:0.0	.	271;397	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	397;228;228;271	ENSP00000355929:W397L;ENSP00000353696:W228L;ENSP00000443193:W228L;ENSP00000446124:W271L	ENSP00000353696:W228L	W	-	2	0	ANGEL2	211240822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.219000	0.72231	2.571000	0.86741	0.650000	0.86243	TGG	ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.378	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1		0.00	68	0	C	NM_144567		213174199	-1			no_errors	ENST00000366962	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
ANK2	287	genome.wustl.edu	37	4	114279017	114279017	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:114279017C>A	ENST00000357077.4	+	38	9296	c.9243C>A	c.(9241-9243)gaC>gaA	p.D3081E	ANK2_ENST00000264366.6_Missense_Mutation_p.D3048E|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3081					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCACCCCTGACACCACTCCTG	0.473																																																	0													62.0	62.0	62.0					4																	114279017		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9243C>A	4.37:g.114279017C>A	ENSP00000349588:p.Asp3081Glu		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D3081E	ENST00000357077.4	37	c.9243	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906944	0.52333	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99507	-2.56;-2.58;-6.04	5.78	4.04	0.47022	.	0.000000	0.64402	D	0.000012	D	0.99312	0.9759	M	0.77313	2.365	0.80722	D	1	P;D	0.89917	0.946;1.0	P;D	0.83275	0.514;0.996	D	0.99208	1.0875	10	0.49607	T	0.09	.	8.5812	0.33630	0.0:0.6423:0.0:0.3577	.	3048;3081	Q01484;Q01484-4	ANK2_HUMAN;.	E	3081;3048;91	ENSP00000349588:D3081E;ENSP00000264366:D3048E;ENSP00000422498:D91E	ENSP00000264366:D3048E	D	+	3	2	ANK2	114498466	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.091000	0.30915	0.774000	0.33427	-0.251000	0.11542	GAC	ANK2	-	NULL	ENSG00000145362		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	23	0	C	NM_001148		114279017	+1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	65.38	9	17	SNP	1.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14851601	14851601	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:14851601C>T	ENST00000358984.4	+	36	3481	c.3301C>T	c.(3301-3303)Ctg>Ttg	p.L1101L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1101										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGTAGCCACACTGAAACATCA	0.333																																																	0													44.0	36.0	39.0					18																	14851601		692	1590	2282	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3301C>T	18.37:g.14851601C>T			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1101	ENST00000358984.4	37	c.3301	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.333	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1		0.00	64	0	C	NM_001145029		14851601	+1			no_errors	ENST00000358984	ensembl	human	known	74_37	silent	11.54	69	9	SNP	0.001	T
AR	367	genome.wustl.edu	37	X	66765188	66765188	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:66765188A>T	ENST00000374690.3	+	1	724	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	AR_ENST00000396044.3_Missense_Mutation_p.Q67L|AR_ENST00000504326.1_Missense_Mutation_p.Q67L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	67	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.672									Androgen Insensitivity Syndrome																																								0													4.0	8.0	7.0					X																	66765188		1328	2795	4123	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.200A>T	X.37:g.66765188A>T	ENSP00000363822:p.Gln67Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q67L	ENST00000374690.3	37	c.200	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	12.39	1.924161	0.34002	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	1.43	1.43	0.22495	.	1.958740	0.03276	U	0.185421	T	0.60483	0.2272	N	0.19112	0.55	0.19945	N	0.999946	P;P;P	0.49559	0.807;0.925;0.807	D;D;P	0.65140	0.932;0.932;0.728	T	0.51325	-0.8720	10	0.72032	D	0.01	.	4.8652	0.13604	1.0:0.0:0.0:0.0	.	67;67;65	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	67	ENSP00000363822:Q67L;ENSP00000421155:Q67L;ENSP00000379359:Q67L	ENSP00000363822:Q67L	Q	+	2	0	AR	66681913	0.407000	0.25352	0.994000	0.49952	0.753000	0.42808	0.127000	0.15790	0.644000	0.30656	0.084000	0.15446	CAG	AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0.00	17	0	A	NM_000044		66765188	+1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.999	T
AR	367	genome.wustl.edu	37	X	66765191	66765191	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:66765191A>T	ENST00000374690.3	+	1	727	c.203A>T	c.(202-204)cAg>cTg	p.Q68L	AR_ENST00000396044.3_Missense_Mutation_p.Q68L|AR_ENST00000504326.1_Missense_Mutation_p.Q68L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	68	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																																								0																																										SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.203A>T	X.37:g.66765191A>T	ENSP00000363822:p.Gln68Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q68L	ENST00000374690.3	37	c.203	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	16.44	3.123738	0.56613	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.76060	-0.99;-0.99;-0.99	4.65	4.65	0.58169	.	0.643517	0.12034	N	0.505704	T	0.74764	0.3759	N	0.19112	0.55	0.21256	N	0.999748	P;P;P	0.49559	0.807;0.925;0.807	D;D;P	0.65140	0.932;0.932;0.728	T	0.63265	-0.6676	10	0.45353	T	0.12	.	9.4675	0.38822	1.0:0.0:0.0:0.0	.	68;68;66	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	68	ENSP00000363822:Q68L;ENSP00000421155:Q68L;ENSP00000379359:Q68L	ENSP00000363822:Q68L	Q	+	2	0	AR	66681916	0.901000	0.30685	1.000000	0.80357	0.788000	0.44548	0.492000	0.22435	1.757000	0.51966	0.381000	0.24937	CAG	AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0.00	17	0	A	NM_000044		66765191	+1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	25.93	19	7	SNP	1.000	T
ARID1B	57492	genome.wustl.edu	37	6	157522154	157522154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:157522154C>T	ENST00000350026.5	+	17	4388	c.4387C>T	c.(4387-4389)Cag>Tag	p.Q1463*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1458*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1516*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1476*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1463	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTATCCCTACCAGAACAGGCA	0.587																																																	0													52.0	57.0	55.0					6																	157522154		2203	4296	6499	SO:0001587	stop_gained	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4387C>T	6.37:g.157522154C>T	ENSP00000055163:p.Gln1463*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1516*	ENST00000350026.5	37	c.4546	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	44	10.627280	0.99440	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.08	5.08	0.68730	.	0.188954	0.47455	D	0.000235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	.	.	.	X	1476;1463;1516;1458;985	.	ENSP00000275248:Q1458X	Q	+	1	0	ARID1B	157563846	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.528000	0.85240	0.591000	0.81541	CAG	ARID1B	-	NULL	ENSG00000049618		0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0.00	19	0	C	NM_020732		157522154	+1			no_errors	ENST00000367148	ensembl	human	known	74_37	nonsense	19.35	25	6	SNP	1.000	T
ARMCX4	100131755	genome.wustl.edu	37	X	100746775	100746775	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:100746775G>A	ENST00000423738.3	+	2	3401	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	283						integral component of membrane (GO:0016021)				lung(1)	1						TGCAAAGCCTGAGGCTGAGGC	0.562																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.3199G>A	X.37:g.100746775G>A	ENSP00000404304:p.Glu1067Lys		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.E1067K	ENST00000423738.3	37	c.3199	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	9.895	1.205212	0.22205	.	.	ENSG00000196440	ENST00000423738	.	.	.	4.43	-0.613	0.11594	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27434	-1.0074	4	.	.	.	.	5.0385	0.14447	0.4385:0.1588:0.4026:0.0	.	.	.	.	K	1171	.	.	E	+	1	0	ARMCX4	100633431	.	.	0.000000	0.03702	0.026000	0.11368	.	.	-0.329000	0.08527	0.589000	0.80489	GAG	ARMCX4	-	NULL	ENSG00000196440		0.562	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2		0.00	22	0	G	NM_001256155		100746775	+1			no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	33.33	14	7	SNP	0.000	A
ATP10A	57194	genome.wustl.edu	37	15	25959047	25959047	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:25959047C>T	ENST00000356865.6	-	10	2229	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	706					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCTCTGGCCGCATACACCA	0.657																																																	0													54.0	51.0	52.0					15																	25959047		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2118G>A	15.37:g.25959047C>T			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A706	ENST00000356865.6	37	c.2118	CCDS32178.1	15																																																																																			ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.657	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1		0.00	50	0	C	NM_024490		25959047	-1			no_errors	ENST00000356865	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.132	T
ATP1B4	23439	genome.wustl.edu	37	X	119509235	119509235	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:119509235G>T	ENST00000218008.3	+	5	628	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D187Y|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D148Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	191					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGTTATAATGACAGTCTTCA	0.483																																																	0													103.0	95.0	98.0					X																	119509235		2203	4300	6503	SO:0001583	missense	0			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.571G>T	X.37:g.119509235G>T	ENSP00000218008:p.Asp191Tyr		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.D191Y	ENST00000218008.3	37	c.571	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391025	0.82902	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.32515	1.45;1.45;1.45	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.72437	-0.4294	10	0.66056	D	0.02	-12.5937	17.4253	0.87525	0.0:0.0:1.0:0.0	.	148;156;191;187	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	Y	191;187;148	ENSP00000218008:D191Y;ENSP00000355346:D187Y;ENSP00000443334:D148Y	ENSP00000218008:D191Y	D	+	1	0	ATP1B4	119393263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.147000	0.94646	2.328000	0.79073	0.513000	0.50165	GAC	ATP1B4	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000101892		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1		0.00	24	0	G	NM_001142447		119509235	+1			no_errors	ENST00000218008	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117486857	117486857	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:117486857C>G	ENST00000355044.3	+	27	4021	c.3895C>G	c.(3895-3897)Cca>Gca	p.P1299A	ATRNL1_ENST00000423111.2_Missense_Mutation_p.P350A|ATRNL1_ENST00000303745.7_Missense_Mutation_p.P92A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1299					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGCGAGGGCCATTAGAGGT	0.473																																																	0													53.0	47.0	49.0					10																	117486857		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3895C>G	10.37:g.117486857C>G	ENSP00000347152:p.Pro1299Ala		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.P1299A	ENST00000355044.3	37	c.3895	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	1.995	-0.430938	0.04669	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.39592	1.07;1.07;1.07	5.77	2.55	0.30701	.	0.242655	0.41823	D	0.000807	T	0.19886	0.0478	N	0.12182	0.205	0.31497	N	0.665233	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.23084	-1.0198	10	0.09084	T	0.74	-2.1769	8.9514	0.35792	0.1298:0.7233:0.0:0.1468	.	350;1299	B4DH41;Q5VV63	.;ATRN1_HUMAN	A	1299;350;92	ENSP00000347152:P1299A;ENSP00000409624:P350A;ENSP00000307660:P92A	ENSP00000307660:P92A	P	+	1	0	ATRNL1	117476847	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.061000	0.41403	0.752000	0.32923	0.650000	0.86243	CCA	ATRNL1	-	NULL	ENSG00000107518		0.473	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0.00	47	0	C	XM_049349		117486857	+1			no_errors	ENST00000355044	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	G
AXDND1	126859	genome.wustl.edu	37	1	179364289	179364289	+	Missense_Mutation	SNP	C	C	T	rs375180681		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:179364289C>T	ENST00000367618.3	+	11	1448	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	AXDND1_ENST00000457238.2_Missense_Mutation_p.A354V|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	354										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACAGAAAAAGCCCACAAGGAT	0.358																																																	0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	161.0	177.0	172.0		1061	2.3	0.7	1		172	0,8600		0,0,4300	no	missense	AXDND1	NM_144696.4	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	354/1013	179364289	1,13005	2203	4300	6503	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1061C>T	1.37:g.179364289C>T	ENSP00000356590:p.Ala354Val		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.A354V	ENST00000367618.3	37	c.1061	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591887	0.46214	2.27E-4	0.0	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.58210	1.56;0.35;1.64	5.65	2.34	0.29019	.	0.416092	0.27996	N	0.017018	T	0.37019	0.0988	L	0.28400	0.85	0.21652	N	0.999604	B;B;B	0.24823	0.026;0.058;0.112	B;B;B	0.27076	0.047;0.076;0.029	T	0.19712	-1.0297	10	0.21014	T	0.42	-19.2707	9.9264	0.41494	0.0:0.7337:0.0:0.2663	.	312;354;354	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	V	354;312;354;288	ENSP00000356590:A354V;ENSP00000416712:A354V;ENSP00000391716:A288V	ENSP00000353471:A312V	A	+	2	0	AXDND1	177630912	1.000000	0.71417	0.711000	0.30485	0.338000	0.28826	2.880000	0.48530	0.744000	0.32741	-0.136000	0.14681	GCC	AXDND1	-	NULL	ENSG00000162779		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1		0.00	64	0	C	NM_144696		179364289	+1			no_errors	ENST00000367618	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.825	T
BAGE2	85319	genome.wustl.edu	37	21	11039362	11039362	+	RNA	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr21:11039362T>G	ENST00000470054.1	-	0	841							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGCTTCACTTCAGAAGACA	0.358																																																	0																																												0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039362T>G			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.358	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3		0.00	190	0	T	NM_182482		11039362	-1			no_errors	ENST00000470054	ensembl	human	known	74_37	rna	10.63	185	22	SNP	0.033	G
BAGE2	85319	genome.wustl.edu	37	21	11098810	11098810	+	RNA	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr21:11098810G>A	ENST00000470054.1	-	0	115							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catctctgttgccaccaccat	0.637																																																	0													43.0	56.0	52.0					21																	11098810		692	1591	2283			0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098810G>A			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.637	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3		0.00	42	0	G	NM_182482		11098810	-1			no_errors	ENST00000470054	ensembl	human	known	74_37	rna	12.50	34	5	SNP	0.076	A
BBS5	129880	genome.wustl.edu	37	2	170361081	170361081	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:170361081G>C	ENST00000295240.3	+	12	1391	c.1015G>C	c.(1015-1017)Gta>Cta	p.V339L	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000392663.2_Missense_Mutation_p.V318L|BBS5_ENST00000554017.1_Intron	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	339					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTTTGGGAAGTAATGAGTTG	0.373									Bardet-Biedl syndrome																																								0													75.0	76.0	75.0					2																	170361081		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.1015G>C	2.37:g.170361081G>C	ENSP00000295240:p.Val339Leu		D3DPC3|Q6PKN0	Missense_Mutation	SNP	pfam_BBL5,smart_DM16_repeat,pirsf_BBL5	p.V339L	ENST00000295240.3	37	c.1015	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869282	0.91587	.	.	ENSG00000163093	ENST00000295240;ENST00000392663	T;D	0.83250	-1.04;-1.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	L	0.35854	1.095	0.80722	D	1	P;D	0.53745	0.952;0.962	P;P	0.49451	0.476;0.611	T	0.81790	-0.0771	10	0.37606	T	0.19	.	18.9464	0.92623	0.0:0.0:1.0:0.0	.	318;339	Q8N3I7-2;Q8N3I7	.;BBS5_HUMAN	L	339;318	ENSP00000295240:V339L;ENSP00000376431:V318L	ENSP00000295240:V339L	V	+	1	0	BBS5	170069327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.547000	0.85894	0.655000	0.94253	GTA	BBS5	-	pfam_BBL5,pirsf_BBL5	ENSG00000163093		0.373	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2		0.00	74	0	G	NM_152384		170361081	+1			no_errors	ENST00000295240	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	C
BNC1	646	genome.wustl.edu	37	15	83926243	83926243	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:83926243T>A	ENST00000345382.2	-	5	3021	c.2936A>T	c.(2935-2937)aAt>aTt	p.N979I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.N972I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	979					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGTTGGGATTCTGGCTGTG	0.473																																																	0													173.0	167.0	169.0					15																	83926243		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2936A>T	15.37:g.83926243T>A	ENSP00000307041:p.Asn979Ile		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N979I	ENST00000345382.2	37	c.2936	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	T	27.9	4.877185	0.91664	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.57595	0.39	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.76454	-0.2953	10	0.87932	D	0	-29.4264	16.379	0.83439	0.0:0.0:0.0:1.0	.	972;979	F5GY04;Q01954	.;BNC1_HUMAN	I	979;972	ENSP00000307041:N979I	ENSP00000307041:N979I	N	-	2	0	BNC1	81717247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.268000	0.75426	0.455000	0.32223	AAT	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.473	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0.00	72	0	T	NM_001717		83926243	-1			no_errors	ENST00000345382	ensembl	human	known	74_37	missense	5.48	68	4	SNP	1.000	A
BRINP3	339479	genome.wustl.edu	37	1	190068039	190068039	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:190068039G>A	ENST00000367462.3	-	8	1641	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	BRINP3_ENST00000534846.1_Silent_p.S368S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	470					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGAGCCCCTGGCTGAGCATGT	0.577																																																	0													100.0	101.0	101.0					1																	190068039		2203	4300	6503	SO:0001819	synonymous_variant	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1410C>T	1.37:g.190068039G>A			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	pfam_MACPF,smart_MACPF	p.S470	ENST00000367462.3	37	c.1410	CCDS1373.1	1																																																																																			BRINP3	-	NULL	ENSG00000162670		0.577	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0.00	26	0	G	NM_199051		190068039	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.995	A
MALRD1	340895	genome.wustl.edu	37	10	19820137	19820137	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:19820137T>G	ENST00000454679.2	+	18	3433	c.3433T>G	c.(3433-3435)Ttc>Gtc	p.F1145V	C10orf112_ENST00000455457.2_5'UTR|C10orf112_ENST00000492202.1_3'UTR			Q5VYJ5	MALR1_HUMAN		1145	MAM 6. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						TGGTCAGCACTTCCTGTACGT	0.388																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.3433T>G	10.37:g.19820137T>G	ENSP00000412763:p.Phe1145Val		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.F1145V	ENST00000454679.2	37	c.3433		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.14|18.14	3.556929|3.556929	0.65425|0.65425	.|.	.|.	ENSG00000204740|ENSG00000204740	ENST00000377266;ENST00000454679|ENST00000377265	T;T|.	0.03035|.	4.07;4.07|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.060484|.	0.64402|.	D|.	0.000004|.	T|T	0.63189|0.63189	0.2490|0.2490	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62196|0.62196	-0.6905|-0.6905	6|4	.|.	.|.	.|.	.|.	11.3052|11.3052	0.49332|0.49332	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	V|R	1158;1145|129	ENSP00000366477:F1158V;ENSP00000412763:F1145V|.	.|.	F|L	+|+	1|2	0|0	C10orf112|C10orf112	19860143|19860143	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.632000|0.632000	0.37999|0.37999	5.055000|5.055000	0.64282|0.64282	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	TTC|CTT	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000204740		0.388	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding			0.00	84	0	T			19820137	+1			no_errors	ENST00000454679	ensembl	human	known	74_37	missense	31.03	40	18	SNP	0.983	G
C22orf34	348645	genome.wustl.edu	37	22	50016913	50016913	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:50016913A>C	ENST00000444628.1	-	5	2052	c.981T>G	c.(979-981)gaT>gaG	p.D327E	C22orf34_ENST00000405854.1_Intron|C22orf34_ENST00000400023.1_Intron			Q6ZV56	CV034_HUMAN	chromosome 22 open reading frame 34	0										pancreas(1)	1						CCCCACATAAATCCTGAGGGG	0.577																																																	0																																										SO:0001583	missense	0			BC048207		22q13.33	2013-01-15			ENSG00000188511	ENSG00000188511			28010	other	unknown						12477932	Standard	NR_026997		Approved		uc003bit.3	Q6ZV56	OTTHUMG00000030424	ENST00000444628.1:c.981T>G	22.37:g.50016913A>C	ENSP00000395549:p.Asp327Glu		Q147Y0|Q5R3D1|Q6ZTN8	Missense_Mutation	SNP	NULL	p.D327E	ENST00000444628.1	37	c.981		22	.	.	.	.	.	.	.	.	.	.	A	3.541	-0.093753	0.07053	.	.	ENSG00000188511	ENST00000444628	.	.	.	0.815	-0.341	0.12639	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	.	3.1546	0.06500	0.3306:0.0:0.6694:0.0	.	.	.	.	E	327	.	.	D	-	3	2	C22orf34	48402917	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.310000	0.08135	-0.059000	0.13154	-0.540000	0.04249	GAT	C22orf34	-	NULL	ENSG00000188511		0.577	C22orf34-201	KNOWN	basic|appris_candidate_longest	protein_coding	C22orf34	HGNC	protein_coding			0.00	74	0	A	NR_026997		50016913	-1			no_errors	ENST00000444628	ensembl	human	known	74_37	missense	50.00	28	28	SNP	0.000	C
C6orf15	29113	genome.wustl.edu	37	6	31079655	31079655	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:31079655C>T	ENST00000259870.3	-	2	484	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	161					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGTGAGAGGCCTGTGGCATCG	0.622																																																	0													32.0	34.0	34.0					6																	31079655		1832	3614	5446	SO:0001583	missense	0			AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.481G>A	6.37:g.31079655C>T	ENSP00000259870:p.Gly161Ser		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	NULL	p.G161S	ENST00000259870.3	37	c.481	CCDS4693.1	6	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527077	0.27299	.	.	ENSG00000204542	ENST00000259870	T	0.05786	3.39	4.73	2.77	0.32553	.	1.239520	0.05845	N	0.619985	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44513	-0.9323	10	0.10377	T	0.69	-0.8395	4.9107	0.13820	0.0:0.503:0.3572:0.1398	.	161	Q6UXA7	CF015_HUMAN	S	161	ENSP00000259870:G161S	ENSP00000259870:G161S	G	-	1	0	C6orf15	31187634	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.657000	0.05335	1.179000	0.42884	0.643000	0.83706	GGC	C6orf15	-	NULL	ENSG00000204542		0.622	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf15	HGNC	protein_coding	OTTHUMT00000076184.2		0.00	36	0	C	NM_014070		31079655	-1			no_errors	ENST00000259870	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.001	T
CACNA1C	775	genome.wustl.edu	37	12	2224508	2224508	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:2224508C>T	ENST00000347598.4	+	2	168	c.168C>T	c.(166-168)atC>atT	p.I56I	CACNA1C_ENST00000399634.1_Silent_p.I56I|CACNA1C_ENST00000399603.1_Silent_p.I56I|CACNA1C_ENST00000344100.3_Silent_p.I56I|CACNA1C_ENST00000480911.1_Silent_p.I56I|CACNA1C_ENST00000406454.3_Silent_p.I56I|CACNA1C_ENST00000399617.1_Silent_p.I56I|CACNA1C_ENST00000402845.3_Silent_p.I56I|CACNA1C_ENST00000327702.7_Silent_p.I56I|CACNA1C_ENST00000399601.1_Silent_p.I56I|CACNA1C_ENST00000399641.1_Silent_p.I56I|CACNA1C_ENST00000399591.1_Silent_p.I56I|CACNA1C_ENST00000399655.1_Silent_p.I56I|CACNA1C_ENST00000399638.1_Silent_p.I56I|CACNA1C_ENST00000399621.1_Silent_p.I56I|CACNA1C_ENST00000399649.1_Silent_p.I56I|CACNA1C_ENST00000399606.1_Silent_p.I56I|CACNA1C_ENST00000335762.5_Silent_p.I56I|CACNA1C_ENST00000399597.1_Silent_p.I56I|CACNA1C_ENST00000399637.1_Silent_p.I56I|CACNA1C_ENST00000399595.1_Silent_p.I56I|CACNA1C_ENST00000399644.1_Silent_p.I56I|CACNA1C_ENST00000399629.1_Silent_p.I56I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	56					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCGGCCATCGACGCAGCCC	0.677																																																	0																																										SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.168C>T	12.37:g.2224508C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I56	ENST00000347598.4	37	c.168	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.677	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	18	0	C	NM_000719		2224508	+1			no_errors	ENST00000399634	ensembl	human	known	74_37	silent	61.54	5	8	SNP	0.994	T
CACNA1E	777	genome.wustl.edu	37	1	181452908	181452908	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:181452908G>T	ENST00000367573.2	+	1	28	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A10S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A10S|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A10S|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	10					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGTGGTCGCCAGGCCAGG	0.642																																																	0													25.0	28.0	27.0					1																	181452908		1898	4106	6004	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.28G>T	1.37:g.181452908G>T	ENSP00000356545:p.Ala10Ser		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A10S	ENST00000367573.2	37	c.28	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957478	0.34565	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97378	-4.36;-3.94;-3.94;-3.94;-3.95	5.28	5.28	0.74379	.	0.395622	0.20432	N	0.092457	D	0.92374	0.7580	N	0.08118	0	0.80722	D	1	B	0.22683	0.073	B	0.22753	0.041	D	0.88738	0.3241	10	0.33141	T	0.24	.	17.6827	0.88248	0.0:0.0:1.0:0.0	.	10	Q15878-3	.	S	10	ENSP00000432038:A10S;ENSP00000356542:A10S;ENSP00000434814:A10S;ENSP00000353222:A10S;ENSP00000356545:A10S	ENSP00000353222:A10S	A	+	1	0	CACNA1E	179719531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.887000	0.56197	2.474000	0.83562	0.561000	0.74099	GCC	CACNA1E	-	NULL	ENSG00000198216		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0.00	62	0	G	NM_000721		181452908	+1			no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
CACNA1H	8912	genome.wustl.edu	37	16	1245071	1245071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:1245071C>A	ENST00000348261.5	+	3	647	c.399C>A	c.(397-399)tgC>tgA	p.C133*	CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.C133*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.C133*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	133					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCGAGCGCTGCAACATCCtgg	0.647											OREG0023543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	79.0	77.0					16																	1245071		2060	4179	6239	SO:0001587	stop_gained	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.399C>A	16.37:g.1245071C>A	ENSP00000334198:p.Cys133*	594	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.C133*	ENST00000348261.5	37	c.399	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362871	0.61403	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.48	0.843	0.18935	.	0.432998	0.25405	N	0.030910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9644	0.35867	0.0:0.6788:0.0:0.3212	.	.	.	.	X	133	.	ENSP00000334198:C133X	C	+	3	2	CACNA1H	1185072	0.328000	0.24687	0.708000	0.30435	0.104000	0.19210	0.830000	0.27462	0.456000	0.26937	-0.359000	0.07587	TGC	CACNA1H	-	prints_VDCC_T_a1su	ENSG00000196557		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0.00	81	0	C	NM_001005407		1245071	+1			no_errors	ENST00000348261	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.324	A
CAPN13	92291	genome.wustl.edu	37	2	30987153	30987153	+	Missense_Mutation	SNP	C	C	A	rs200327194		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:30987153C>A	ENST00000295055.8	-	6	720	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	CAPN13_ENST00000534090.2_Missense_Mutation_p.D182Y|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	182	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGTGCAGATCGGAATAGGAT	0.587																																																	0													51.0	52.0	52.0					2																	30987153		2099	4214	6313	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.544G>T	2.37:g.30987153C>A	ENSP00000295055:p.Asp182Tyr		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D182Y	ENST00000295055.8	37	c.544	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	6.883	0.532332	0.13127	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87571	-2.27;-2.27	5.22	-4.44	0.03557	Peptidase C2, calpain, catalytic domain (3);	0.413559	0.29846	N	0.011058	T	0.74222	0.3688	L	0.28400	0.85	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.62455	-0.6851	10	0.59425	D	0.04	.	6.3337	0.21285	0.0736:0.0913:0.2088:0.6264	.	182	Q6MZZ7	CAN13_HUMAN	Y	182	ENSP00000295055:D182Y;ENSP00000431298:D182Y	ENSP00000295055:D182Y	D	-	1	0	CAPN13	30840657	0.024000	0.19004	0.023000	0.16930	0.241000	0.25554	0.590000	0.23954	-0.388000	0.07797	-0.502000	0.04539	GAT	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000162949		0.587	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2		0.00	41	0	C	NM_144575		30987153	-1			no_errors	ENST00000295055	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.001	A
CARD10	29775	genome.wustl.edu	37	22	37906323	37906323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:37906323C>A	ENST00000403299.1	-	5	1021	c.805G>T	c.(805-807)Gag>Tag	p.E269*	CARD10_ENST00000251973.5_Nonsense_Mutation_p.E269*|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	269					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ttctccttctccttctccttc	0.617																																																	0													31.0	33.0	32.0					22																	37906323		2203	4300	6503	SO:0001587	stop_gained	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.805G>T	22.37:g.37906323C>A	ENSP00000384570:p.Glu269*		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.E269*	ENST00000403299.1	37	c.805	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141772	0.77775	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	.	.	.	1.35	1.35	0.21983	.	0.780550	0.09557	U	0.786081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-15.3583	6.0989	0.20035	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000251973:E269X	E	-	1	0	CARD10	36236269	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	0.931000	0.28871	1.097000	0.41459	0.313000	0.20887	GAG	CARD10	-	NULL	ENSG00000100065		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1		0.00	14	0	C	NM_014550		37906323	-1			no_errors	ENST00000251973	ensembl	human	known	74_37	nonsense	26.67	11	4	SNP	0.999	A
CCDC144CP	348254	genome.wustl.edu	37	17	20245688	20245688	+	RNA	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:20245688G>A	ENST00000583626.1	+	0	301									RNA, 7SL, cytoplasmic 17, pseudogene																		AAGAAATGGAGAAGCACAGAA	0.358																																																	0																																												0					17p11.2	2013-04-02			ENSG00000266339			"""ncRNAs / Small cytoplasmic RNAs"""	46033	pseudogene	RNA, pseudogene							Standard			Approved						17.37:g.20245688G>A				RNA	SNP	-	NULL	ENST00000583626.1	37	NULL		17																																																																																			CCDC144CP	-	-	ENSG00000154898		0.358	RN7SL17P-201	KNOWN	basic	misc_RNA	CCDC144CP	HGNC	misc_RNA			0.00	179	0	G			20245688	+1			no_errors	ENST00000580574	ensembl	human	known	74_37	rna	17.68	149	32	SNP	0.005	A
CCDC80	151887	genome.wustl.edu	37	3	112337841	112337841	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:112337841G>T	ENST00000206423.3	-	4	3099	c.2146C>A	c.(2146-2148)Cta>Ata	p.L716I	CCDC80_ENST00000439685.2_Missense_Mutation_p.L716I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	716					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACATCTGTTAGCACCATGAAG	0.413																																																	0													155.0	139.0	144.0					3																	112337841		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2146C>A	3.37:g.112337841G>T	ENSP00000206423:p.Leu716Ile		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.L716I	ENST00000206423.3	37	c.2146	CCDS2968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.264166|4.264166	0.80358|0.80358	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|T;T	.|0.72942	.|-0.7;-0.7	5.73|5.73	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82375|0.82375	0.5023|0.5023	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.62365	.|0.989;0.991;0.991	.|D;D;D	.|0.73708	.|0.968;0.981;0.981	T|T	0.83257|0.83257	-0.0050|-0.0050	5|10	.|0.72032	.|D	.|0.01	-20.7055|-20.7055	11.5621|11.5621	0.50782|0.50782	0.151:0.0:0.849:0.0|0.151:0.0:0.849:0.0	.|.	.|727;716;716	.|Q76M96-2;A3KC71;Q76M96	.|.;.;CCD80_HUMAN	D|I	113|716;716;344	.|ENSP00000206423:L716I;ENSP00000411814:L716I	.|ENSP00000206423:L716I	A|L	-|-	2|1	0|2	CCDC80|CCDC80	113820531|113820531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.185000|3.185000	0.50934|0.50934	0.824000|0.824000	0.34613|0.34613	0.650000|0.650000	0.86243|0.86243	GCT|CTA	CCDC80	-	NULL	ENSG00000091986		0.413	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1		0.00	21	0	G	NM_199511		112337841	-1			no_errors	ENST00000206423	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	T
CD163L1	283316	genome.wustl.edu	37	12	7527976	7527976	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:7527976G>A	ENST00000313599.3	-	11	2959	c.2902C>T	c.(2902-2904)Cat>Tat	p.H968Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.H968Y|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.H978Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	968	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTAAGCAATGAAACCTGTGT	0.473																																																	0													101.0	88.0	92.0					12																	7527976		2203	4300	6503	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2902C>T	12.37:g.7527976G>A	ENSP00000315945:p.His968Tyr		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.H968Y	ENST00000313599.3	37	c.2902	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066669	0.36470	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35421	1.31;1.31;1.31	2.29	1.38	0.22167	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.241880	0.27306	U	0.019972	T	0.37183	0.0994	M	0.62209	1.925	0.09310	N	1	P;P	0.46277	0.875;0.752	P;B	0.46452	0.517;0.388	T	0.21109	-1.0255	10	0.66056	D	0.02	.	7.2454	0.26119	0.1497:0.0:0.8503:0.0	.	978;968	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	968;978;968	ENSP00000315945:H968Y;ENSP00000393474:H978Y;ENSP00000379871:H968Y	ENSP00000315945:H968Y	H	-	1	0	CD163L1	7419243	0.000000	0.05858	0.008000	0.14137	0.507000	0.33981	-1.082000	0.03400	0.506000	0.28125	0.455000	0.32223	CAT	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177675		0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0.00	52	0	G	NM_174941		7527976	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	A
CD1B	910	genome.wustl.edu	37	1	158299215	158299215	+	Silent	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158299215C>A	ENST00000368168.3	-	4	938	c.831G>T	c.(829-831)ctG>ctT	p.L277L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	277	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCCGACAGGACAGGCCAGCCG	0.572																																																	0													93.0	87.0	89.0					1																	158299215		2203	4300	6503	SO:0001819	synonymous_variant	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.831G>T	1.37:g.158299215C>A			Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L277	ENST00000368168.3	37	c.831	CCDS1176.1	1																																																																																			CD1B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158485		0.572	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2		0.00	49	0	C	NM_001764		158299215	-1			no_errors	ENST00000368168	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.022	A
CDC14A	8556	genome.wustl.edu	37	1	100908535	100908535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:100908535G>T	ENST00000336454.3	+	7	857	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.E168*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.E168*|CDC14A_ENST00000370124.3_Nonsense_Mutation_p.E168*|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.E110*|CDC14A_ENST00000370125.2_Nonsense_Mutation_p.E168*	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	168	Linker.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TGATGTGGATGAATATGAACA	0.284																																																	0													110.0	114.0	112.0					1																	100908535		2203	4297	6500	SO:0001587	stop_gained	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.502G>T	1.37:g.100908535G>T	ENSP00000336739:p.Glu168*		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E168*	ENST00000336454.3	37	c.502	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.400108	0.98262	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.4926	16.1134	0.81278	0.0:0.0:1.0:0.0	.	.	.	.	X	110;169;168;168;168;168;168	.	ENSP00000336739:E168X	E	+	1	0	CDC14A	100681123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.513000	0.81739	2.615000	0.88500	0.585000	0.79938	GAA	CDC14A	-	NULL	ENSG00000079335		0.284	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1		0.00	48	0	G	NM_033312		100908535	+1			no_errors	ENST00000361544	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T
CD1E	913	genome.wustl.edu	37	1	158326360	158326360	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158326360A>G	ENST00000368167.3	+	5	1216	c.977A>G	c.(976-978)gAc>gGc	p.D326G	CD1E_ENST00000368161.3_Nonstop_Mutation_p.*291W|CD1E_ENST00000444681.2_Missense_Mutation_p.D227G|CD1E_ENST00000368160.3_Missense_Mutation_p.D326G|CD1E_ENST00000368166.3_Missense_Mutation_p.D137G|CD1E_ENST00000452291.2_Missense_Mutation_p.D137G|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368155.3_Missense_Mutation_p.D181G|CD1E_ENST00000368165.3_Missense_Mutation_p.D236G|CD1E_ENST00000368156.1_Missense_Mutation_p.D236G|CD1E_ENST00000368163.3_Missense_Mutation_p.D271G|CD1E_ENST00000368164.3_Nonstop_Mutation_p.*102W|CD1E_ENST00000368157.1_Missense_Mutation_p.D82G|CD1E_ENST00000368154.1_Missense_Mutation_p.D82G	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	326					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTGTAGTTGACTCACGGTTA	0.358																																																	0													91.0	84.0	86.0					1																	158326360		1840	4097	5937	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.977A>G	1.37:g.158326360A>G	ENSP00000357149:p.Asp326Gly		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D326G	ENST00000368167.3	37	c.977	CCDS41417.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.018|0.018	-1.476865|-1.476865	0.01035|0.01035	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154|ENST00000368164;ENST00000368161	T;T;T;T;T;T;T;T;T;T;T|.	0.47528|.	5.35;4.82;3.54;3.59;3.7;3.53;0.85;4.84;3.75;3.59;0.84|.	4.61|4.61	-9.22|-9.22	0.00675|0.00675	.|.	2.440030|.	0.01406|.	N|.	0.013786|.	T|.	0.04634|.	0.0126|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;P;B;B|.	0.50943|.	0.001;0.001;0.0;0.0;0.001;0.0;0.001;0.94;0.0;0.0|.	B;B;B;B;B;B;B;P;B;B|.	0.47402|.	0.001;0.002;0.0;0.001;0.001;0.0;0.001;0.546;0.001;0.0|.	T|.	0.20042|.	-1.0287|.	9|.	0.40728|.	T|.	0.16|.	4.3202|4.3202	1.6918|1.6918	0.02853|0.02853	0.1657:0.2264:0.3655:0.2424|0.1657:0.2264:0.3655:0.2424	.|.	227;236;181;137;326;326;137;82;236;271|.	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4|.	.;.;.;.;.;CD1E_HUMAN;.;.;.;.|.	G|W	227;326;137;236;137;271;82;326;236;181;82|102;291	ENSP00000402906:D227G;ENSP00000357149:D326G;ENSP00000416228:D137G;ENSP00000357147:D236G;ENSP00000357148:D137G;ENSP00000357145:D271G;ENSP00000357139:D82G;ENSP00000357142:D326G;ENSP00000357138:D236G;ENSP00000357137:D181G;ENSP00000357136:D82G|.	ENSP00000357136:D82G|.	D|X	+|+	2|3	0|0	CD1E|CD1E	156592984|156592984	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.403000|-0.403000	0.07214|0.07214	-1.778000|-1.778000	0.01282|0.01282	-1.117000|-1.117000	0.02048|0.02048	GAC|TGA	CD1E	-	NULL	ENSG00000158488		0.358	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3		0.00	70	0	A	NM_030893		158326360	+1			no_errors	ENST00000368167	ensembl	human	known	74_37	missense	19.70	53	13	SNP	0.000	G
CDH17	1015	genome.wustl.edu	37	8	95189941	95189941	+	Silent	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:95189941G>C	ENST00000027335.3	-	4	283	c.159C>G	c.(157-159)gcC>gcG	p.A53A	CDH17_ENST00000450165.2_Silent_p.A53A|CDH17_ENST00000441892.2_Silent_p.A53A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGGAGGATTGGCCTTAAACT	0.393																																																	0													92.0	87.0	89.0					8																	95189941		2203	4300	6503	SO:0001819	synonymous_variant	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.159C>G	8.37:g.95189941G>C			Q15336|Q2M2E0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A53	ENST00000027335.3	37	c.159	CCDS6260.1	8																																																																																			CDH17	-	superfamily_Cadherin-like,smart_Cadherin	ENSG00000079112		0.393	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1		0.00	63	0	G	NM_004063		95189941	-1			no_errors	ENST00000027335	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.052	C
CERK	64781	genome.wustl.edu	37	22	47097574	47097574	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:47097574C>T	ENST00000216264.8	-	7	861	c.749G>A	c.(748-750)gGc>gAc	p.G250D	CERK_ENST00000541677.1_Missense_Mutation_p.G52D	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	250	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCGCTGGTGCCCACGGTGGA	0.582																																																	0													70.0	57.0	61.0					22																	47097574		2186	4265	6451	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.749G>A	22.37:g.47097574C>T	ENSP00000216264:p.Gly250Asp		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.G250D	ENST00000216264.8	37	c.749	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287193	0.59867	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.23348	1.91;1.91	4.49	4.49	0.54785	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.89785	3.06	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.65557	-0.6139	10	0.56958	D	0.05	-16.0164	15.012	0.71557	0.0:1.0:0.0:0.0	.	250	Q8TCT0	CERK1_HUMAN	D	250;52	ENSP00000216264:G250D;ENSP00000438659:G52D	ENSP00000216264:G250D	G	-	2	0	CERK	45476238	1.000000	0.71417	0.284000	0.24805	0.016000	0.09150	6.227000	0.72282	2.197000	0.70478	0.591000	0.81541	GGC	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.582	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2		0.00	21	0	C	NM_022766		47097574	-1			no_errors	ENST00000216264	ensembl	human	known	74_37	missense	16.67	14	3	SNP	1.000	T
CHL1	10752	genome.wustl.edu	37	3	386284	386284	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:386284A>C	ENST00000256509.2	+	9	1382	c.740A>C	c.(739-741)aAg>aCg	p.K247T	CHL1_ENST00000397491.2_Missense_Mutation_p.K231T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AATTCCATCAAGCAAAGAAAA	0.353																																																	0													94.0	90.0	91.0					3																	386284		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.740A>C	3.37:g.386284A>C	ENSP00000256509:p.Lys247Thr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K247T	ENST00000256509.2	37	c.740	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144116	0.37825	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.60424	0.19;0.21	5.51	5.51	0.81932	.	0.136206	0.52532	D	0.000068	T	0.64114	0.2569	L	0.39020	1.185	0.40258	D	0.978143	B;B;D	0.67145	0.323;0.323;0.996	B;B;D	0.69142	0.061;0.061;0.962	T	0.60286	-0.7293	10	0.19147	T	0.46	.	14.1841	0.65592	1.0:0.0:0.0:0.0	.	231;231;247	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	247;231	ENSP00000256509:K247T;ENSP00000380628:K231T	ENSP00000256509:K247T	K	+	2	0	CHL1	361284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.589000	0.61006	2.078000	0.62432	0.528000	0.53228	AAG	CHL1	-	NULL	ENSG00000134121		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2		0.00	54	0	A	NM_006614		386284	+1			no_errors	ENST00000256509	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	C
CLRN1-AS1	116933	genome.wustl.edu	37	3	150570302	150570302	+	RNA	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:150570302T>C	ENST00000476886.1	+	0	32									CLRN1 antisense RNA 1																		gggaatgcagtcaaggcttca	0.478																																																	0																																												0					3q25.1	2012-10-12	2012-08-15	2011-04-28	ENSG00000239265	ENSG00000239265		"""Long non-coding RNAs"""	30895	non-coding RNA	RNA, long non-coding			"""clarin 1 opposite strand"", ""CLRN1 antisense RNA 1 (non-protein coding)"""	CLRN1OS		11524702	Standard	NR_024066		Approved	UCRP	uc011bny.1		OTTHUMG00000159846		3.37:g.150570302T>C				RNA	SNP	-	NULL	ENST00000476886.1	37	NULL		3																																																																																			CLRN1-AS1	-	-	ENSG00000239265		0.478	CLRN1-AS1-001	KNOWN	basic	antisense	CLRN1-AS1	HGNC	antisense	OTTHUMT00000357695.2		0.00	31	0	T			150570302	+1			no_errors	ENST00000476886	ensembl	human	known	74_37	rna	27.59	21	8	SNP	0.116	C
CNTNAP5	129684	genome.wustl.edu	37	2	125547505	125547505	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:125547505T>G	ENST00000431078.1	+	18	3140	c.2776T>G	c.(2776-2778)Ttc>Gtc	p.F926V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	926	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAGAAAGGCTTCCTAGGATG	0.463																																																	0													54.0	52.0	53.0					2																	125547505		1979	4166	6145	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2776T>G	2.37:g.125547505T>G	ENSP00000399013:p.Phe926Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F926V	ENST00000431078.1	37	c.2776	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634833	0.87760	.	.	ENSG00000155052	ENST00000431078	D	0.90732	-2.72	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.52532	D	0.000064	D	0.97031	0.9030	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98354	1.0545	10	0.87932	D	0	.	14.602	0.68447	0.0:0.0:0.0:1.0	.	926	Q8WYK1	CNTP5_HUMAN	V	926	ENSP00000399013:F926V	ENSP00000399013:F926V	F	+	1	0	CNTNAP5	125263975	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.910000	0.87451	2.116000	0.64780	0.533000	0.62120	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3		0.00	31	0	T			125547505	+1			no_errors	ENST00000431078	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G
COL11A1	1301	genome.wustl.edu	37	1	103343652	103343652	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:103343652C>A	ENST00000370096.3	-	67	5656	c.5344G>T	c.(5344-5346)Gat>Tat	p.D1782Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.D1666Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1743Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1794Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1782	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCATGACATCAACAATAGGT	0.318																																																	0													103.0	97.0	99.0					1																	103343652		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5344G>T	1.37:g.103343652C>A	ENSP00000359114:p.Asp1782Tyr		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D1794Y	ENST00000370096.3	37	c.5380	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699061	0.68501	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.96817	0.9601	10	0.87932	D	0	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	1666;1743;1794;1782;1002	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Y	1782;1794;1743;1002;1666	ENSP00000359114:D1782Y;ENSP00000351163:D1794Y;ENSP00000302551:D1743Y;ENSP00000426533:D1666Y	ENSP00000302551:D1743Y	D	-	1	0	COL11A1	103116240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.604000	0.82830	2.793000	0.96121	0.561000	0.74099	GAT	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000060718		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	66	0	C	NM_080630		103343652	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	missense	38.60	35	22	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103380335	103380335	+	Silent	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:103380335T>C	ENST00000370096.3	-	51	4161	c.3849A>G	c.(3847-3849)gaA>gaG	p.E1283E	COL11A1_ENST00000512756.1_Silent_p.E1167E|COL11A1_ENST00000353414.4_Silent_p.E1244E|COL11A1_ENST00000358392.2_Silent_p.E1295E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1283	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTGGACCAGCTTCCCCTTTCT	0.463																																																	0													50.0	49.0	49.0					1																	103380335		2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3849A>G	1.37:g.103380335T>C			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E1295	ENST00000370096.3	37	c.3885	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	45	0	T	NM_080630		103380335	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	silent	18.64	48	11	SNP	1.000	C
COL3A1	1281	genome.wustl.edu	37	2	189864069	189864069	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:189864069T>C	ENST00000304636.3	+	30	2251	c.2081T>C	c.(2080-2082)cTt>cCt	p.L694P	COL3A1_ENST00000317840.5_Missense_Mutation_p.L694P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	694	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GCCCCAGGACTTAGAGGTGGA	0.488																																																	0													30.0	33.0	32.0					2																	189864069		2202	4298	6500	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2081T>C	2.37:g.189864069T>C	ENSP00000304408:p.Leu694Pro		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L694P	ENST00000304636.3	37	c.2081	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325064	0.24080	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93426	-3.19;-3.22	4.96	-1.7	0.08159	.	2.120730	0.03067	N	0.156624	D	0.84624	0.5513	N	0.05259	-0.085	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.72953	-0.4135	10	0.16896	T	0.51	.	11.7991	0.52116	0.0:0.7176:0.0:0.2824	.	694	P02461	CO3A1_HUMAN	P	694	ENSP00000304408:L694P;ENSP00000315243:L694P	ENSP00000304408:L694P	L	+	2	0	COL3A1	189572314	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	0.940000	0.28992	-0.424000	0.07382	0.528000	0.53228	CTT	COL3A1	-	NULL	ENSG00000168542		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3		0.00	55	0	T	NM_000090		189864069	+1			no_errors	ENST00000304636	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.000	C
COPA	1314	genome.wustl.edu	37	1	160262334	160262334	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:160262334C>T	ENST00000241704.7	-	28	3129	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	COPA_ENST00000368069.3_Missense_Mutation_p.R976H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	967					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R976H(2)|p.R967H(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGGTTGTGCGGCCTCGGGC	0.502																																																	4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											168.0	155.0	159.0					1																	160262334		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2900G>A	1.37:g.160262334C>T	ENSP00000241704:p.Arg967His		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R976H	ENST00000241704.7	37	c.2927	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679953	0.68042	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.49139	0.79;0.79	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.58428	1.81	0.80722	D	1	B;D	0.89917	0.224;1.0	B;D	0.72982	0.062;0.979	T	0.41627	-0.9498	10	0.24483	T	0.36	-15.0506	19.4432	0.94831	0.0:1.0:0.0:0.0	.	967;976	P53621;P53621-2	COPA_HUMAN;.	H	976;967	ENSP00000357048:R976H;ENSP00000241704:R967H	ENSP00000241704:R967H	R	-	2	0	COPA	158528958	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.567000	0.82357	2.941000	0.99782	0.655000	0.94253	CGC	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.502	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0.00	29	0	C	NM_004371		160262334	-1			no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
CPM	1368	genome.wustl.edu	37	12	69252831	69252831	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:69252831C>A	ENST00000551568.1	-	8	1021	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	CPM_ENST00000546373.1_Missense_Mutation_p.D321Y|CPM_ENST00000338356.3_Missense_Mutation_p.D321Y	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	321					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CCATTCTGATCAAAAACTTGA	0.284																																																	0													88.0	85.0	86.0					12																	69252831		2203	4298	6501	SO:0001583	missense	0			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.961G>T	12.37:g.69252831C>A	ENSP00000448517:p.Asp321Tyr		B2R800|Q9H2K9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.D321Y	ENST00000551568.1	37	c.961	CCDS8987.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.524278|3.524278	0.64747|0.64747	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373|ENST00000551897	T;T;T|.	0.27402|.	1.67;1.67;1.67|.	5.64|5.64	3.71|3.71	0.42584|0.42584	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85561|0.85561	0.5725|0.5725	H|H	0.95328|0.95328	3.655|3.655	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.89622|0.89622	0.3849|0.3849	9|5	.|.	.|.	.|.	-29.8908|-29.8908	13.0531|13.0531	0.58966|0.58966	0.1274:0.7497:0.1229:0.0|0.1274:0.7497:0.1229:0.0	.|.	321|.	P14384|.	CBPM_HUMAN|.	Y|F	321|123	ENSP00000448517:D321Y;ENSP00000339157:D321Y;ENSP00000447255:D321Y|.	.|.	D|L	-|-	1|3	0|2	CPM|CPM	67539098|67539098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.814000|0.814000	0.46013|0.46013	4.010000|4.010000	0.57117|0.57117	1.516000|1.516000	0.48900|0.48900	-0.181000|-0.181000	0.13052|0.13052	GAT|TTG	CPM	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000135678		0.284	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	HGNC	protein_coding	OTTHUMT00000403355.1		0.00	58	0	C	NM_198320		69252831	-1			no_errors	ENST00000338356	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A
CPXCR1	53336	genome.wustl.edu	37	X	88009209	88009209	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:88009209T>G	ENST00000276127.4	+	3	1053	c.794T>G	c.(793-795)gTt>gGt	p.V265G	CPXCR1_ENST00000373111.1_Missense_Mutation_p.V265G	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	265							metal ion binding (GO:0046872)	p.V265A(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCATGAATGTTATGATCACA	0.328																																																	1	Substitution - Missense(1)	lung(1)											43.0	40.0	41.0					X																	88009209		2201	4295	6496	SO:0001583	missense	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.794T>G	X.37:g.88009209T>G	ENSP00000276127:p.Val265Gly		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V265G	ENST00000276127.4	37	c.794	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	T	8.546	0.874445	0.17395	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.30981	1.51;1.51	3.57	-0.307	0.12777	.	1.310120	0.05681	N	0.590454	T	0.17238	0.0414	N	0.24115	0.695	0.09310	N	1	P	0.42518	0.782	B	0.34652	0.187	T	0.18777	-1.0326	9	.	.	.	-0.6274	5.8653	0.18771	0.0:0.3932:0.0:0.6068	.	265	Q8N123	CPXCR_HUMAN	G	265	ENSP00000276127:V265G;ENSP00000362203:V265G	.	V	+	2	0	CPXCR1	87895865	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.167000	0.16602	-0.151000	0.11176	0.481000	0.45027	GTT	CPXCR1	-	NULL	ENSG00000147183		0.328	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1		0.00	58	0	T	NM_033048		88009209	+1			no_errors	ENST00000276127	ensembl	human	known	74_37	missense	63.89	26	46	SNP	0.000	G
CRY1	1407	genome.wustl.edu	37	12	107399004	107399004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:107399004G>T	ENST00000008527.5	-	3	1157	c.290C>A	c.(289-291)tCa>tAa	p.S97*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	97	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATACTCAATTGAAAGTTTAGT	0.343																																																	0													141.0	136.0	138.0					12																	107399004		2203	4300	6503	SO:0001587	stop_gained	0			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.290C>A	12.37:g.107399004G>T	ENSP00000008527:p.Ser97*			Nonsense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.S97*	ENST00000008527.5	37	c.290	CCDS9112.1	12	.	.	.	.	.	.	.	.	.	.	G	45	11.604854	0.99582	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-12.7269	19.6408	0.95757	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000008527:S97X	S	-	2	0	CRY1	105923134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.658000	0.90341	0.585000	0.79938	TCA	CRY1	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N	ENSG00000008405		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1		0.00	44	0	G	NM_004075		107399004	-1			no_errors	ENST00000008527	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113348960	113348960	+	Silent	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:113348960T>G	ENST00000297405.5	-	44	7184	c.6940A>C	c.(6940-6942)Aga>Cga	p.R2314R	CSMD3_ENST00000352409.3_Silent_p.R2244R|CSMD3_ENST00000455883.2_Silent_p.R2210R|CSMD3_ENST00000343508.3_Silent_p.R2274R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2314	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGGTACTCTTACAAGCCAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													114.0	110.0	112.0					8																	113348960		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6940A>C	8.37:g.113348960T>G			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2314	ENST00000297405.5	37	c.6940	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	36	0	T	NM_052900		113348960	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	silent	31.91	32	15	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113363470	113363470	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:113363470G>T	ENST00000297405.5	-	40	6503	c.6259C>A	c.(6259-6261)Cac>Aac	p.H2087N	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2017N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1983N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2047N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2087	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGTGAGAGTGACCCTACATA	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													116.0	118.0	118.0					8																	113363470		2203	4293	6496	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6259C>A	8.37:g.113363470G>T	ENSP00000297405:p.His2087Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2087N	ENST00000297405.5	37	c.6259	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916978	0.33815	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.32	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.076027	0.53938	D	0.000058	T	0.55465	0.1922	N	0.04387	-0.21	0.43608	D	0.99597	B;B;D	0.58620	0.001;0.0;0.983	B;B;P	0.61397	0.005;0.006;0.888	T	0.56294	-0.8003	10	0.16420	T	0.52	.	17.3411	0.87296	0.0:0.0:1.0:0.0	.	1983;2087;2047	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2047;2087;1357;1983;2017	ENSP00000345799:H2047N;ENSP00000297405:H2087N;ENSP00000341558:H1357N;ENSP00000412263:H1983N;ENSP00000343124:H2017N	ENSP00000297405:H2087N	H	-	1	0	CSMD3	113432646	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.557000	0.67313	2.380000	0.81148	0.650000	0.86243	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	29	0	G	NM_052900		113363470	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
CTDP1	9150	genome.wustl.edu	37	18	77477873	77477873	+	Silent	SNP	G	G	A	rs140627086	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:77477873G>A	ENST00000299543.7	+	10	2421	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	CTDP1_ENST00000075430.7_Silent_p.P758P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	758					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGTTCCACCCGATGCCGGTTC	0.697													G|||	9	0.00179712	0.0	0.0029	5008	,	,		15469	0.001		0.005	False		,,,				2504	0.001																0								G	,,	9,4397	14.3+/-33.2	0,9,2194	41.0	48.0	46.0		1917,2274,2274	-10.1	0.0	18	dbSNP_134	46	39,8561	25.7+/-73.6	1,37,4262	no	coding-synonymous,coding-synonymous,coding-synonymous	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	1,46,6456	AA,AG,GG		0.4535,0.2043,0.3691	,,	639/843,758/962,758/868	77477873	48,12958	2203	4300	6503	SO:0001819	synonymous_variant	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2274G>A	18.37:g.77477873G>A			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.P758	ENST00000299543.7	37	c.2274	CCDS12017.1	18																																																																																			CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.697	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1		0.00	66	0	G	NM_004715		77477873	+1			no_errors	ENST00000299543	ensembl	human	known	74_37	silent	51.28	38	40	SNP	0.001	A
CTNND2	1501	genome.wustl.edu	37	5	11411748	11411748	+	Silent	SNP	G	G	T	rs374819899		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:11411748G>T	ENST00000304623.8	-	5	528	c.339C>A	c.(337-339)atC>atA	p.I113I	CTNND2_ENST00000359640.2_Silent_p.I113I|CTNND2_ENST00000511377.1_Silent_p.I22I|CTNND2_ENST00000503622.1_Silent_p.I22I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	113					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCATCTTCGATATCTTTTT	0.343																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	85.0		339	0.6	1.0	5		85	0,8600		0,0,4300	no	coding-synonymous	CTNND2	NM_001332.2		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		113/1226	11411748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.339C>A	5.37:g.11411748G>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I113	ENST00000304623.8	37	c.339	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.343	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1		0.00	36	0	G	NM_001332		11411748	-1			no_errors	ENST00000304623	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.999	T
CUL4B	8450	genome.wustl.edu	37	X	119672585	119672585	+	Silent	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:119672585G>T	ENST00000404115.3	-	15	2237	c.1836C>A	c.(1834-1836)gcC>gcA	p.A612A	CUL4B_ENST00000371322.5_Silent_p.A594A|CUL4B_ENST00000336592.6_Silent_p.A599A	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	612					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACAGGCGCTTGGCTAAATCTT	0.348																																																	0													97.0	96.0	96.0					X																	119672585		2203	4300	6503	SO:0001819	synonymous_variant	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1836C>A	X.37:g.119672585G>T			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A612	ENST00000404115.3	37	c.1836	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000158290		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0.00	49	0	G	NM_003588		119672585	-1			no_errors	ENST00000404115	ensembl	human	known	74_37	silent	9.09	39	4	SNP	0.997	T
CYP46A1	10858	genome.wustl.edu	37	14	100184390	100184390	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:100184390G>T	ENST00000261835.3	+	10	1011		c.e10-1		CYP46A1_ENST00000423126.2_Splice_Site|CYP46A1_ENST00000554176.1_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTTCCCACAGGTCACGAGAC	0.597																																																	0													115.0	83.0	94.0					14																	100184390		2203	4300	6503	SO:0001630	splice_region_variant	0			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.908-1G>T	14.37:g.100184390G>T			B4DHP8|E7EQG9|Q8N2B0	Splice_Site	SNP	-	e10-1	ENST00000261835.3	37	c.908-1	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677475	0.29783	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000380228;ENST00000554176;ENST00000556313	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8542	0.41075	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP46A1	99254143	1.000000	0.71417	0.993000	0.49108	0.604000	0.37047	5.579000	0.67457	2.036000	0.60181	0.455000	0.32223	.	CYP46A1	-	-	ENSG00000036530		0.597	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1		0.00	40	0	G		Intron	100184390	+1			no_errors	ENST00000261835	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.993	T
DENND4C	55667	genome.wustl.edu	37	9	19336364	19336364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:19336364C>T	ENST00000380432.2	+	15	2011	c.1978C>T	c.(1978-1980)Cag>Tag	p.Q660*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.Q896*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.Q896*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	660					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACAGTTTAGGCAGCCGCTTAA	0.448																																																	0													83.0	74.0	77.0					9																	19336364		2203	4300	6503	SO:0001587	stop_gained	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1978C>T	9.37:g.19336364C>T	ENSP00000369797:p.Gln660*		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q896*	ENST00000380432.2	37	c.2686		9	.	.	.	.	.	.	.	.	.	.	C	37	6.033921	0.97221	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000380432	.	.	.	5.98	5.06	0.68205	.	0.254751	0.41396	D	0.000892	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-5.0092	13.7809	0.63081	0.2794:0.7206:0.0:0.0	.	.	.	.	X	660;87;87	.	ENSP00000305795:Q87X	Q	+	1	0	DENND4C	19326364	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.071000	0.57556	1.499000	0.48617	0.585000	0.79938	CAG	DENND4C	-	NULL	ENSG00000137145		0.448	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding			0.00	43	0	C	NM_017925		19336364	+1			no_errors	ENST00000602925	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	1.000	T
DAPK1	1612	genome.wustl.edu	37	9	90322065	90322065	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:90322065C>T	ENST00000408954.3	+	26	4414	c.4079C>T	c.(4078-4080)gCc>gTc	p.A1360V	DAPK1_ENST00000469640.2_Missense_Mutation_p.A1385V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A1294V|DAPK1_ENST00000358077.5_Missense_Mutation_p.A1360V|DAPK1_ENST00000472284.1_Missense_Mutation_p.A1360V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1360	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCCCTCCACGCCCTGCTGCGG	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													43.0	47.0	46.0					9																	90322065		1951	4128	6079	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4079C>T	9.37:g.90322065C>T	ENSP00000386135:p.Ala1360Val		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.A1385V	ENST00000408954.3	37	c.4154	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455246	0.43634	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	6.04	6.04	0.98038	Death (3);DEATH-like (2);	0.000000	0.51477	D	0.000087	D	0.86134	0.5860	L	0.33753	1.03	0.58432	D	0.999996	P;P;P	0.43578	0.811;0.705;0.811	P;B;P	0.45660	0.489;0.439;0.489	D	0.85596	0.1249	10	0.49607	T	0.09	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1294;1360;1360	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	V	1360;1360;1385;1360;1294	ENSP00000350785:A1360V;ENSP00000417076:A1360V;ENSP00000418885:A1385V;ENSP00000386135:A1360V;ENSP00000419026:A1294V	ENSP00000350785:A1360V	A	+	2	0	DAPK1	89511885	0.991000	0.36638	0.984000	0.44739	0.262000	0.26303	2.944000	0.49034	2.873000	0.98535	0.563000	0.77884	GCC	DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0.00	21	0	C	NM_004938		90322065	+1			no_errors	ENST00000469640	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
DGKZ	8525	genome.wustl.edu	37	11	46393632	46393632	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:46393632G>A	ENST00000454345.1	+	11	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	DGKZ_ENST00000395574.3_Missense_Mutation_p.R246H|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.R279H|DGKZ_ENST00000527911.1_Missense_Mutation_p.R280H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R296H|DGKZ_ENST00000528615.1_Missense_Mutation_p.R58H|DGKZ_ENST00000318201.8_Missense_Mutation_p.R257H|DGKZ_ENST00000532868.2_Missense_Mutation_p.R284H|DGKZ_ENST00000421244.2_Missense_Mutation_p.R280H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	468	Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAGGAGGGCCGCTGGAGACCC	0.622																																																	0													34.0	29.0	31.0					11																	46393632		2202	4298	6500	SO:0001583	missense	0			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1403G>A	11.37:g.46393632G>A	ENSP00000412178:p.Arg468His		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R468H	ENST00000454345.1	37	c.1403	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620782	0.87460	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.24723	2.4;2.6;2.6;2.66;3.59;2.42;2.48;2.6;1.84	4.86	4.86	0.63082	.	0.978321	0.08308	N	0.965807	T	0.54240	0.1846	M	0.65975	2.015	0.58432	D	0.999999	P;D;D;D;P;D;D;D;D	0.89917	0.952;1.0;1.0;0.999;0.947;1.0;0.999;0.999;1.0	B;D;D;D;P;D;D;D;D	0.70487	0.241;0.932;0.95;0.932;0.457;0.969;0.969;0.932;0.932	T	0.49000	-0.8984	10	0.72032	D	0.01	.	18.4419	0.90669	0.0:0.0:1.0:0.0	.	257;245;223;280;468;279;280;246;296	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	H	296;58;246;245;280;279;280;257;468	ENSP00000343065:R296H;ENSP00000434719:R58H;ENSP00000378941:R246H;ENSP00000436273:R245H;ENSP00000436291:R280H;ENSP00000395684:R279H;ENSP00000391021:R280H;ENSP00000320340:R257H;ENSP00000412178:R468H	ENSP00000320340:R257H	R	+	2	0	DGKZ	46350208	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.472000	0.80996	2.429000	0.82318	0.586000	0.80456	CGC	DGKZ	-	NULL	ENSG00000149091		0.622	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1		0.00	59	0	G	NM_001105540		46393632	+1			no_errors	ENST00000454345	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96192269	96192269	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:96192269A>T	ENST00000324765.8	+	11	1474	c.1127A>T	c.(1126-1128)cAg>cTg	p.Q376L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q376L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q372L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q376L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	376	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTGATATTCAGTTGAAAGTA	0.308																																																	0													62.0	52.0	55.0					X																	96192269		2202	4300	6502	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1127A>T	X.37:g.96192269A>T	ENSP00000321348:p.Gln376Leu		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.Q376L	ENST00000324765.8	37	c.1127	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786047	0.49997	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.082227	0.49916	D	0.000135	D	0.93396	0.7894	M	0.92026	3.265	0.49213	D	0.999768	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.987;0.996	D	0.94578	0.7777	10	0.87932	D	0	.	13.2691	0.60152	1.0:0.0:0.0:0.0	.	376;376;383	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	376;372;376;376;376;383	ENSP00000362152:Q376L;ENSP00000362145:Q372L;ENSP00000348082:Q376L;ENSP00000362140:Q376L;ENSP00000321348:Q376L	ENSP00000321348:Q376L	Q	+	2	0	DIAPH2	96078925	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	8.560000	0.90712	1.572000	0.49736	0.235000	0.17854	CAG	DIAPH2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000147202		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0.00	39	0	A	NM_006729, NM_007309		96192269	+1			no_errors	ENST00000324765	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21641052	21641052	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:21641052C>A	ENST00000409508.3	+	18	3495	c.3464C>A	c.(3463-3465)tCc>tAc	p.S1155Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S1155Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1155	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGACAGATTCCGGACTTCAG	0.338									Kartagener syndrome																																								0													78.0	76.0	77.0					7																	21641052		1813	4079	5892	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3464C>A	7.37:g.21641052C>A	ENSP00000475939:p.Ser1155Tyr		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1155Y	ENST00000409508.3	37	c.3464		7	.	.	.	.	.	.	.	.	.	.	C	8.578	0.881686	0.17467	.	.	ENSG00000105877	ENST00000328843	T	0.24151	1.87	5.7	0.572	0.17357	.	1.156720	0.06135	N	0.671301	T	0.23210	0.0561	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.38607	-0.9653	9	0.59425	D	0.04	.	12.4581	0.55716	0.0:0.4829:0.4539:0.0632	.	1155	Q96DT5	DYH11_HUMAN	Y	1155	ENSP00000330671:S1155Y	ENSP00000330671:S1155Y	S	+	2	0	DNAH11	21607577	0.001000	0.12720	0.035000	0.18076	0.592000	0.36648	0.255000	0.18333	-0.168000	0.10853	-0.181000	0.13052	TCC	DNAH11	-	NULL	ENSG00000105877		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0.00	66	0	C	NM_003777		21641052	+1			no_errors	ENST00000328843	ensembl	human	known	74_37	missense	33.72	57	29	SNP	0.114	A
DNAH3	55567	genome.wustl.edu	37	16	20976007	20976007	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:20976007C>T	ENST00000261383.3	-	53	9198	c.9199G>A	c.(9199-9201)Gac>Aac	p.D3067N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3067	AAA 5. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGCCATTGTCGATGGAGAAG	0.502																																																	0													79.0	71.0	74.0					16																	20976007		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9199G>A	16.37:g.20976007C>T	ENSP00000261383:p.Asp3067Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.D3067N	ENST00000261383.3	37	c.9199	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798808	0.90538	.	.	ENSG00000158486	ENST00000261383	T	0.42900	0.96	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81243	-0.1021	10	0.87932	D	0	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	3067	Q8TD57	DYH3_HUMAN	N	3067	ENSP00000261383:D3067N	ENSP00000261383:D3067N	D	-	1	0	DNAH3	20883508	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	GAC	DNAH3	-	NULL	ENSG00000158486		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0.00	21	0	C	NM_017539		20976007	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	T
DPF1	8193	genome.wustl.edu	37	19	38709597	38709597	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:38709597C>T	ENST00000420980.2	-	4	507	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DPF1_ENST00000412732.1_Missense_Mutation_p.E79K|DPF1_ENST00000355526.4_Missense_Mutation_p.E161K|DPF1_ENST00000416611.1_Missense_Mutation_p.E135K|DPF1_ENST00000456296.1_Missense_Mutation_p.E135K|DPF1_ENST00000414789.1_Missense_Mutation_p.E79K	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	161					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCTCCTCCTCCTTCAGCTCA	0.647																																																	0													111.0	110.0	110.0					19																	38709597		2203	4300	6503	SO:0001583	missense	0			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.481G>A	19.37:g.38709597C>T	ENSP00000397354:p.Glu161Lys		B3KSY8|Q08AJ0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.E161K	ENST00000420980.2	37	c.481	CCDS33008.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.93|17.93	3.509374|3.509374	0.64522|0.64522	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365|ENST00000355526	D;D;D;D;D;T|D	0.90004|0.88896	-2.31;-2.6;-2.11;-2.6;-2.57;2.38|-2.44	3.83|3.83	2.78|2.78	0.32641|0.32641	.|.	0.082473|.	0.45361|.	D|.	0.000378|.	D|D	0.90659|0.90659	0.7070|0.7070	M|M	0.71036|0.71036	2.16|2.16	0.42411|0.42411	D|D	0.992608|0.992608	D;D;D;D;D;P|.	0.71674|.	0.993;0.993;0.989;0.997;0.998;0.945|.	D;D;D;D;D;P|.	0.72982|.	0.956;0.971;0.915;0.936;0.979;0.564|.	D|D	0.88885|0.88885	0.3342|0.3342	10|6	0.52906|.	T|.	0.07|.	-8.154|-8.154	10.7688|10.7688	0.46310|0.46310	0.0:0.9023:0.0:0.0977|0.0:0.9023:0.0:0.0977	.|.	135;135;134;161;161;161|.	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;.;DPF1_HUMAN|.	K|E	161;161;79;135;79;135;79;135;79|153	ENSP00000397354:E161K;ENSP00000412098:E79K;ENSP00000390223:E135K;ENSP00000391884:E79K;ENSP00000411569:E135K;ENSP00000416347:E79K|ENSP00000347716:G153E	ENSP00000412098:E79K|.	E|G	-|-	1|2	0|0	DPF1|DPF1	43401437|43401437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.916000|3.916000	0.56416|0.56416	0.941000|0.941000	0.37499|0.37499	0.467000|0.467000	0.42956|0.42956	GAG|GGA	DPF1	-	NULL	ENSG00000011332		0.647	DPF1-001	KNOWN	basic|CCDS	protein_coding	DPF1	HGNC	protein_coding	OTTHUMT00000347721.1		0.00	34	0	C			38709597	-1			no_errors	ENST00000355526	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
DRD1	1812	genome.wustl.edu	37	5	174869940	174869940	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:174869940G>A	ENST00000393752.2	-	2	1155	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	55					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACCTTGGACCGCAGGTGTCGG	0.572																																																	0													97.0	80.0	86.0					5																	174869940		2203	4300	6503	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.163C>T	5.37:g.174869940G>A	ENSP00000377353:p.Arg55Trp		B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.R55W	ENST00000393752.2	37	c.163	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129522	0.56721	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.45276	0.9	5.39	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86726	0.1945	10	0.87932	D	0	.	14.7105	0.69229	0.0:0.0:0.5591:0.4409	.	55	P21728	DRD1_HUMAN	W	55	ENSP00000377353:R55W	ENSP00000327652:R55W	R	-	1	2	DRD1	174802546	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.526000	0.35964	0.725000	0.32318	0.650000	0.86243	CGG	DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_rcpt	ENSG00000184845		0.572	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2		0.00	14	0	G	NM_000794		174869940	-1			no_errors	ENST00000393752	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A
DSP	1832	genome.wustl.edu	37	6	7583070	7583070	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:7583070C>A	ENST00000379802.3	+	24	5916	c.5575C>A	c.(5575-5577)Caa>Aaa	p.Q1859K	DSP_ENST00000418664.2_Missense_Mutation_p.Q1260K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1859	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGAAACAGCAAATTCAGAA	0.473																																																	0													89.0	92.0	91.0					6																	7583070		2203	4300	6503	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5575C>A	6.37:g.7583070C>A	ENSP00000369129:p.Gln1859Lys		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1859K	ENST00000379802.3	37	c.5575	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757108	0.31137	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.61742	0.08;0.08	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000027	T	0.21509	0.0518	N	0.19112	0.55	0.20196	N	0.99992	B;B	0.22683	0.055;0.073	B;B	0.17433	0.018;0.018	T	0.19095	-1.0316	10	0.02654	T	1	.	19.3485	0.94374	0.0:1.0:0.0:0.0	.	1307;1859	Q4LE79;P15924	.;DESP_HUMAN	K	1859;1260	ENSP00000369129:Q1859K;ENSP00000396591:Q1260K	ENSP00000369129:Q1859K	Q	+	1	0	DSP	7528069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.454000	0.44979	2.552000	0.86080	0.650000	0.86243	CAA	DSP	-	NULL	ENSG00000096696		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2		0.00	39	0	C	NM_004415		7583070	+1			no_errors	ENST00000379802	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56365979	56365979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:56365979C>A	ENST00000361203.3	-	75	18842	c.18835G>T	c.(18835-18837)Gag>Tag	p.E6279*	DST_ENST00000370769.4_Nonsense_Mutation_p.E6390*|DST_ENST00000370754.5_Nonsense_Mutation_p.E6568*|DST_ENST00000244364.6_Nonsense_Mutation_p.E3976*|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.E4193*|DST_ENST00000446842.2_Nonsense_Mutation_p.E6064*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.E4302*			Q03001	DYST_HUMAN	dystonin	6278					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6390K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCAGGAGCTCATCCAGGGCA	0.443																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											75.0	70.0	71.0					6																	56365979		1890	4121	6011	SO:0001587	stop_gained	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18835G>T	6.37:g.56365979C>A	ENSP00000354508:p.Glu6279*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E6568*	ENST00000361203.3	37	c.19702		6	.	.	.	.	.	.	.	.	.	.	C	58	31.254853	0.99978	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.88	5.88	0.94601	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.2141	0.98291	0.0:1.0:0.0:0.0	.	.	.	.	X	3976;6568;6390;4302;6064;4193;6279	.	ENSP00000244364:E3976X	E	-	1	0	DST	56473938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.815000	0.86186	2.773000	0.95371	0.591000	0.81541	GAG	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	65	0	C	NM_001723		56365979	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	nonsense	5.17	55	3	SNP	1.000	A
ECHDC3	79746	genome.wustl.edu	37	10	11805265	11805265	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:11805265C>A	ENST00000379215.4	+	5	845	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	212						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CATTTCTGCCCAGGAGGCCCT	0.637																																																	0													73.0	59.0	64.0					10																	11805265		2203	4300	6503	SO:0001583	missense	0			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.634C>A	10.37:g.11805265C>A	ENSP00000368517:p.Gln212Lys		Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.Q212K	ENST00000379215.4	37	c.634	CCDS7084.1	10	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807510	0.31961	.	.	ENSG00000134463	ENST00000379215;ENST00000422887	T;T	0.69306	-0.39;-0.39	5.47	5.47	0.80525	Crotonase, core (1);	0.313066	0.36134	N	0.002766	T	0.65893	0.2735	L	0.58302	1.8	0.40806	D	0.983383	B	0.21821	0.061	B	0.26310	0.068	T	0.61783	-0.6992	10	0.27785	T	0.31	.	18.2984	0.90155	0.0:1.0:0.0:0.0	.	212	Q96DC8	ECHD3_HUMAN	K	212;139	ENSP00000368517:Q212K;ENSP00000398429:Q139K	ENSP00000368517:Q212K	Q	+	1	0	ECHDC3	11845271	0.993000	0.37304	0.757000	0.31301	0.220000	0.24768	4.574000	0.60900	2.565000	0.86533	0.561000	0.74099	CAG	ECHDC3	-	pfam_Crotonase_core_superfam	ENSG00000134463		0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC3	HGNC	protein_coding	OTTHUMT00000046771.1		0.00	44	0	C	NM_024693		11805265	+1			no_errors	ENST00000379215	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.993	A
RINT1	60561	genome.wustl.edu	37	7	105207563	105207563	+	Intron	DEL	C	C	-			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:105207563delC	ENST00000257700.2	+	15	2417				EFCAB10_ENST00000485614.1_Intron|EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000490493.1_5'UTR|EFCAB10_ENST00000486180.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1						G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCCCTAAACAGTATAAAAG	0.418																																																	0													64.0	67.0	66.0					7																	105207563		2203	4300	6503	SO:0001627	intron_variant	0			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.2187-3C>-	7.37:g.105207563delC			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	RNA	DEL	-	NULL	ENST00000257700.2	37	NULL	CCDS34726.1	7																																																																																			EFCAB10	-	-	ENSG00000185055		0.418	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB10	HGNC	protein_coding	OTTHUMT00000348686.1		0.00	21	0	C	NM_021930		105207563	-1			no_errors	ENST00000490493	ensembl	human	known	74_37	rna	60.00	8	12	DEL	0.975	0
EMR1	2015	genome.wustl.edu	37	19	6904062	6904062	+	Missense_Mutation	SNP	G	G	A	rs528274667		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:6904062G>A	ENST00000312053.4	+	8	855	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EMR1_ENST00000381404.4_Missense_Mutation_p.R221H|EMR1_ENST00000381407.5_Missense_Mutation_p.R132H|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.R273H	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	273	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATGAGTGCCGCCAAGATCCA	0.473													G|||	0	0.0	0.0	0.0	5008	,	,		19963	0.0		0.0	False		,,,				2504	0.0																0													100.0	95.0	97.0					19																	6904062		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.818G>A	19.37:g.6904062G>A	ENSP00000311545:p.Arg273His		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.R273H	ENST00000312053.4	37	c.818	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809819	0.31961	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.06	-8.13	0.01073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.88522	0.6459	N	0.25992	0.78	0.09310	N	1	P;D;D;D	0.65815	0.884;0.984;0.989;0.995	B;P;P;P	0.57548	0.179;0.536;0.756;0.823	D	0.83852	0.0263	9	0.46703	T	0.11	.	8.6338	0.33935	0.0:0.152:0.224:0.6239	.	132;273;221;273	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	H	273;273;221;273;132	ENSP00000311545:R273H;ENSP00000370811:R221H;ENSP00000250572:R273H;ENSP00000370814:R132H	ENSP00000250572:R273H	R	+	2	0	EMR1	6855062	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.052000	0.01401	-1.890000	0.01111	-1.753000	0.00675	CGC	EMR1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000174837		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1		0.00	39	0	G			6904062	+1			no_errors	ENST00000312053	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	A
GLTPP1	645312	genome.wustl.edu	37	11	18210806	18210806	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:18210806A>G	ENST00000527671.1	-	1	236	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L																	lung(6)	6						GAGCGGCTCAAAGTAGGGGCC	0.557																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000527671.1:c.112T>C	11.37:g.18210806A>G				Silent	SNP	NULL	p.L38	ENST00000527671.1	37	c.112		11																																																																																			RP11-113D6.6	-	NULL	ENSG00000255470		0.557	RP11-113D6.6-001	NOVEL	basic|appris_principal	protein_coding	ENSG00000255470	Clone_based_vega_gene	protein_coding	OTTHUMT00000389787.1		0.00	63	0	A			18210806	-1			no_errors	ENST00000527671	ensembl	human	novel	74_37	silent	39.53	26	17	SNP	0.988	G
LOC105372038	105372038	genome.wustl.edu	37	18	25081766	25081767	+	lincRNA	INS	-	-	T	rs533267879		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:25081766_25081767insT	ENST00000584546.1	-	0	322_323																											tgcagagagcatttttttttcc	0.48																																																	0																																												0																															18.37:g.25081775_25081775dupT				RNA	INS	-	NULL	ENST00000584546.1	37	NULL		18																																																																																			RP11-739N10.1	-	-	ENSG00000264151		0.480	RP11-739N10.1-001	KNOWN	basic	lincRNA	ENSG00000264151	Clone_based_vega_gene	lincRNA	OTTHUMT00000447183.1		0.00	15	0	0			25081767	-1			no_errors	ENST00000584546	ensembl	human	known	74_37	rna	33.33	10	5	INS	0.079:0.061	T
EPHA6	285220	genome.wustl.edu	37	3	97124070	97124070	+	Silent	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:97124070T>C	ENST00000389672.5	+	6	1721	c.1683T>C	c.(1681-1683)gcT>gcC	p.A561A		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	467						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGCACCTGCTTTTTCCAATG	0.403																																																	0													62.0	60.0	60.0					3																	97124070		1849	4089	5938	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1683T>C	3.37:g.97124070T>C			D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A561	ENST00000389672.5	37	c.1683	CCDS46876.1	3																																																																																			EPHA6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080224		0.403	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3		0.00	62	0	T	NM_001080448		97124070	+1			no_errors	ENST00000389672	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.997	C
ERBB2	2064	genome.wustl.edu	37	17	37881021	37881021	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:37881021C>T	ENST00000269571.5	+	20	2509	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.R754C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R784C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R754C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R769C|ERBB2_ENST00000445658.2_Missense_Mutation_p.R508C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R754C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	784	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R784C(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATATGTCTCCCGCCTTCTGGG	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	lung(1)											88.0	85.0	86.0					17																	37881021		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2350C>T	17.37:g.37881021C>T	ENSP00000269571:p.Arg784Cys		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R784C	ENST00000269571.5	37	c.2350	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412396	0.62511	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80008	0.4545	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.82289	-0.0531	9	0.87932	D	0	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	508;769;784	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	C	754;769;508;784;754	ENSP00000385185:R754C;ENSP00000446466:R769C;ENSP00000404047:R508C;ENSP00000269571:R784C;ENSP00000443562:R754C	ENSP00000269571:R784C	R	+	1	0	ERBB2	35134547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.952000	0.70282	2.478000	0.83669	0.563000	0.77884	CGC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0.00	69	0	C			37881021	+1			no_errors	ENST00000269571	ensembl	human	known	74_37	missense	21.48	106	29	SNP	1.000	T
EVC2	132884	genome.wustl.edu	37	4	5664869	5664869	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:5664869G>A	ENST00000344408.5	-	9	1163	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	EVC2_ENST00000310917.2_Silent_p.S290S|EVC2_ENST00000344938.1_Silent_p.S370S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	370					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGGGTCCTCGGAAGACAGAA	0.448																																																	0													124.0	117.0	120.0					4																	5664869		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1110C>T	4.37:g.5664869G>A			Q86YT3|Q86YT4|Q8NG49	Silent	SNP	pfam_Limbin	p.S370	ENST00000344408.5	37	c.1110	CCDS3382.2	4																																																																																			EVC2	-	pfam_Limbin	ENSG00000173040		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0.00	39	0	G	NM_147127		5664869	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	silent	55.56	16	20	SNP	0.025	A
EVX2	344191	genome.wustl.edu	37	2	176948260	176948260	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:176948260G>A	ENST00000308618.4	-	1	381	c.245C>T	c.(244-246)aCg>aTg	p.T82M		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	82					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TTCGCTGCCCGTGTGCTGCAG	0.632																																																	0													63.0	71.0	68.0					2																	176948260		2203	4300	6503	SO:0001583	missense	0				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.245C>T	2.37:g.176948260G>A	ENSP00000312385:p.Thr82Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.T82M	ENST00000308618.4	37	c.245	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122388	0.37436	.	.	ENSG00000174279	ENST00000308618	D	0.91351	-2.83	5.84	4.93	0.64822	.	0.521924	0.21097	N	0.080225	T	0.81522	0.4840	N	0.08118	0	0.28186	N	0.927971	B	0.30870	0.298	B	0.26517	0.07	T	0.77744	-0.2473	10	0.66056	D	0.02	-19.279	16.3287	0.82997	0.0:0.0:0.8673:0.1327	.	82	Q03828	EVX2_HUMAN	M	82	ENSP00000312385:T82M	ENSP00000312385:T82M	T	-	2	0	EVX2	176656506	0.997000	0.39634	0.998000	0.56505	0.907000	0.53573	2.478000	0.45189	2.768000	0.95171	0.561000	0.74099	ACG	EVX2	-	NULL	ENSG00000174279		0.632	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1		0.00	69	0	G			176948260	-1			no_errors	ENST00000308618	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.999	A
FAM120A	23196	genome.wustl.edu	37	9	96326653	96326653	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:96326653A>G	ENST00000277165.6	+	18	3382	c.3188A>G	c.(3187-3189)cAg>cGg	p.Q1063R	FAM120A_ENST00000333936.5_Missense_Mutation_p.Q1091R|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000340893.4_Missense_Mutation_p.Q1017R	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1063	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGCTCCCCAGATGAACGGG	0.517																																																	0													63.0	70.0	68.0					9																	96326653		2203	4300	6503	SO:0001583	missense	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3188A>G	9.37:g.96326653A>G	ENSP00000277165:p.Gln1063Arg		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.Q1091R	ENST00000277165.6	37	c.3272	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860169	0.51482	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.52983	1.29;1.27;1.18;0.64	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000009	T	0.55417	0.1919	N	0.24115	0.695	0.51767	D	0.999939	D;B;D	0.57899	0.981;0.372;0.981	D;B;D	0.70487	0.969;0.21;0.969	T	0.60826	-0.7186	10	0.72032	D	0.01	-6.9804	15.5024	0.75709	1.0:0.0:0.0:0.0	.	1017;1091;1063	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	R	1063;1091;1017;439	ENSP00000277165:Q1063R;ENSP00000334918:Q1091R;ENSP00000344698:Q1017R;ENSP00000412440:Q439R	ENSP00000277165:Q1063R	Q	+	2	0	FAM120A	95366474	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.860000	0.69546	2.069000	0.61940	0.482000	0.46254	CAG	FAM120A	-	NULL	ENSG00000048828		0.517	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2		0.00	27	0	A	NM_014612		96326653	+1			no_errors	ENST00000333936	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G
FAT4	79633	genome.wustl.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	G	A	rs373678302		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:126336650G>A	ENST00000394329.3	+	5	6545	c.6532G>A	c.(6532-6534)Gca>Aca	p.A2178T	FAT4_ENST00000335110.5_Missense_Mutation_p.A476T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398																																																	4	Substitution - Missense(4)	lung(4)						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	155.0	141.0	146.0		6532	5.6	0.6	4		146	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2178/4982	126336650	1,13005	2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6532G>A	4.37:g.126336650G>A	ENSP00000377862:p.Ala2178Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2178T	ENST00000394329.3	37	c.6532	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946388	0.53079	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.79353	0.4431	M	0.93898	3.47	0.80722	D	1	D;D	0.63880	0.993;0.99	P;P	0.58577	0.802;0.841	D	0.84804	0.0786	10	0.87932	D	0	.	15.259	0.73606	0.0:0.0:0.8591:0.1409	.	476;2178	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2178;476	ENSP00000377862:A2178T;ENSP00000335169:A476T	ENSP00000335169:A476T	A	+	1	0	FAT4	126556100	1.000000	0.71417	0.566000	0.28421	0.058000	0.15608	7.722000	0.84778	2.642000	0.89623	0.557000	0.71058	GCA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0.00	60	0	G	NM_024582		126336650	+1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	A
FBXO27	126433	genome.wustl.edu	37	19	39516071	39516071	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:39516071C>T	ENST00000292853.4	-	6	951	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	FBXO27_ENST00000509137.2_Missense_Mutation_p.V278M|FBXO27_ENST00000600828.1_Missense_Mutation_p.V277M	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	278	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGACTCGCACGATCACACTG	0.592																																																	0													115.0	99.0	104.0					19																	39516071		2203	4300	6503	SO:0001583	missense	0			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.832G>A	19.37:g.39516071C>T	ENSP00000292853:p.Val278Met		Q96C87	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom	p.V278M	ENST00000292853.4	37	c.832	CCDS12527.1	19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947324	0.53186	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.50277	0.75;0.75	3.65	-1.28	0.09318	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.755708	0.10820	N	0.630580	T	0.52996	0.1769	M	0.82823	2.61	0.09310	N	1	D	0.59357	0.985	P	0.49708	0.62	T	0.49093	-0.8975	10	0.87932	D	0	-10.6725	4.5451	0.12076	0.0:0.4368:0.3515:0.2117	.	278	Q8NI29	FBX27_HUMAN	M	278	ENSP00000292853:V278M;ENSP00000437662:V278M	ENSP00000292853:V278M	V	-	1	0	FBXO27	44207911	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.299000	0.08254	-0.096000	0.12329	0.491000	0.48974	GTG	FBXO27	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000161243		0.592	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO27	HGNC	protein_coding	OTTHUMT00000463281.1		0.00	71	0	C			39516071	-1			no_errors	ENST00000292853	ensembl	human	known	74_37	missense	41.46	48	34	SNP	0.000	T
FEN1	2237	genome.wustl.edu	37	11	61563401	61563401	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:61563401C>T	ENST00000305885.2	+	2	981	c.568C>T	c.(568-570)Cta>Tta	p.L190L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGCCCTGTGCTAATGCGACA	0.587								Editing and processing nucleases																																									0													59.0	60.0	60.0					11																	61563401		2202	4299	6501	SO:0001819	synonymous_variant	0			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.568C>T	11.37:g.61563401C>T				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.L190	ENST00000305885.2	37	c.568	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG-I_dom,smart_XPG-I_dom	ENSG00000168496		0.587	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1		0.00	25	0	C	NM_004111		61563401	+1			no_errors	ENST00000305885	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	T
FGR	2268	genome.wustl.edu	37	1	27942113	27942113	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:27942113C>T	ENST00000374005.3	-	9	1138	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	FGR_ENST00000545953.1_Missense_Mutation_p.G218S|FGR_ENST00000399173.1_Missense_Mutation_p.G284S|FGR_ENST00000374004.1_Missense_Mutation_p.G284S	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTAGTGCTGCCGTTCCACGTG	0.677																																																	0													60.0	50.0	53.0					1																	27942113		2203	4300	6503	SO:0001583	missense	0			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.850G>A	1.37:g.27942113C>T	ENSP00000363117:p.Gly284Ser		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G284S	ENST00000374005.3	37	c.850	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654664	0.67472	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87	5.03	3.09	0.35607	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.301932	0.26948	N	0.021695	T	0.12263	0.0298	L	0.58354	1.805	0.27302	N	0.957555	B	0.32800	0.385	B	0.35039	0.194	T	0.10337	-1.0634	10	0.56958	D	0.05	.	8.3582	0.32342	0.16:0.757:0.0:0.0829	.	284	P09769	FGR_HUMAN	S	284;218;284;284;284;284	ENSP00000363117:G284S;ENSP00000445302:G218S;ENSP00000382126:G284S;ENSP00000363116:G284S;ENSP00000363115:G284S;ENSP00000407670:G284S	ENSP00000363115:G284S	G	-	1	0	FGR	27814700	1.000000	0.71417	0.027000	0.17364	0.983000	0.72400	4.880000	0.63107	0.591000	0.29711	0.491000	0.48974	GGC	FGR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000000938		0.677	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1		0.00	30	0	C	NM_005248		27942113	-1			no_errors	ENST00000374003	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.988	T
FOXP1	27086	genome.wustl.edu	37	3	71247109	71247109	+	Intron	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:71247109A>C	ENST00000318789.4	-	6	706				FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318779.3_Silent_p.V97V	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCGTCTCAGCAACTGCTCCCC	0.478			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													70.0	73.0	72.0					3																	71247109		2203	4300	6503	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+243T>G	3.37:g.71247109A>C			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	NULL	p.V97	ENST00000318789.4	37	c.291	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.478	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	45	0	A	NM_032682		71247109	-1			no_errors	ENST00000318779	ensembl	human	putative	74_37	silent	30.19	74	32	SNP	0.000	C
FOXP1	27086	genome.wustl.edu	37	3	71247201	71247201	+	Intron	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:71247201G>T	ENST00000318789.4	-	6	706				FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318779.3_Missense_Mutation_p.Q67K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTAGAGGGCTGATGGTTTATG	0.493			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													54.0	55.0	54.0					3																	71247201		2203	4300	6503	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+151C>A	3.37:g.71247201G>T			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	NULL	p.Q67K	ENST00000318789.4	37	c.199	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447589	0.12223	.	.	ENSG00000114861	ENST00000318779	T	0.44083	0.93	3.28	1.35	0.21983	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.25293	-1.0136	8	0.56958	D	0.05	.	5.1328	0.14919	0.2998:0.0:0.7002:0.0	.	67	Q9BSG9	.	K	67	ENSP00000318721:Q67K	ENSP00000318721:Q67K	Q	-	1	0	FOXP1	71329891	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.095000	0.15127	0.339000	0.23719	0.591000	0.81541	CAG	FOXP1	-	NULL	ENSG00000114861		0.493	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	31	0	G	NM_032682		71247201	-1			no_errors	ENST00000318779	ensembl	human	putative	74_37	missense	7.32	76	6	SNP	0.000	T
GABRP	2568	genome.wustl.edu	37	5	170239137	170239137	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:170239137G>A	ENST00000518525.1	+	11	1662	c.1198G>A	c.(1198-1200)Ggc>Agc	p.G400S	GABRP_ENST00000265294.4_Missense_Mutation_p.G400S|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	400					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAAAGATGGGCAGGATTGT	0.378																																																	0													113.0	107.0	109.0					5																	170239137		2203	4300	6503	SO:0001583	missense	0			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1198G>A	5.37:g.170239137G>A	ENSP00000430100:p.Gly400Ser		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G400S	ENST00000518525.1	37	c.1198	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972193	0.18736	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.80994	-1.44;-1.44	5.74	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.522386	0.22416	N	0.060341	T	0.55593	0.1930	N	0.12182	0.205	0.22226	N	0.999276	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	10	0.07644	T	0.81	.	3.4409	0.07463	0.2051:0.115:0.5617:0.1181	.	400	O00591	GBRP_HUMAN	S	400	ENSP00000430100:G400S;ENSP00000265294:G400S	ENSP00000265294:G400S	G	+	1	0	GABRP	170171715	0.937000	0.31787	0.997000	0.53966	0.971000	0.66376	0.705000	0.25675	0.345000	0.23873	0.655000	0.94253	GGC	GABRP	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,tigrfam_Neur_channel	ENSG00000094755		0.378	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3		0.00	69	0	G	NM_014211		170239137	+1			no_errors	ENST00000265294	ensembl	human	known	74_37	missense	16.84	79	16	SNP	0.991	A
GALNT18	374378	genome.wustl.edu	37	11	11354261	11354261	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:11354261C>T	ENST00000227756.4	-	8	1807	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	466					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCAATGATGTCGGAGTACATC	0.522																																																	0													103.0	84.0	90.0					11																	11354261		2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1396G>A	11.37:g.11354261C>T	ENSP00000227756:p.Asp466Asn		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D466N	ENST00000227756.4	37	c.1396	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306271	0.23736	.	.	ENSG00000110328	ENST00000227756	T	0.57107	0.42	5.54	5.54	0.83059	Ricin B-related lectin (1);	0.941143	0.09007	N	0.862195	T	0.37999	0.1024	N	0.12853	0.265	0.58432	D	0.999999	B	0.18310	0.027	B	0.10450	0.005	T	0.12192	-1.0557	10	0.08837	T	0.75	.	18.0372	0.89308	0.0:1.0:0.0:0.0	.	466	Q6P9A2	GLTL4_HUMAN	N	466	ENSP00000227756:D466N	ENSP00000227756:D466N	D	-	1	0	GALNTL4	11310837	1.000000	0.71417	0.956000	0.39512	0.608000	0.37181	6.083000	0.71326	2.609000	0.88269	0.655000	0.94253	GAC	GALNT18	-	superfamily_Ricin_B_lectin	ENSG00000110328		0.522	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0.00	33	0	C	NM_198516		11354261	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T
GAS2L2	246176	genome.wustl.edu	37	17	34077215	34077215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:34077215G>A	ENST00000254466.6	-	2	535	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.Q170*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	170					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTCCAGCTGCACGAGTGTG	0.711																																																	0													91.0	104.0	100.0					17																	34077215		2202	4298	6500	SO:0001587	stop_gained	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.508C>T	17.37:g.34077215G>A	ENSP00000254466:p.Gln170*		Q8NHY4	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Q170*	ENST00000254466.6	37	c.508	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.627506	0.96671	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	.	.	.	5.03	4.04	0.47022	.	0.726005	0.13005	N	0.421363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-0.0334	12.8961	0.58099	0.0805:0.0:0.9195:0.0	.	.	.	.	X	170	.	ENSP00000254466:Q170X	Q	-	1	0	GAS2L2	31101328	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.327000	0.79147	1.074000	0.40909	0.561000	0.74099	CAG	GAS2L2	-	superfamily_CH-domain	ENSG00000132139		0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1		0.00	42	0	G	NM_139285		34077215	-1			no_errors	ENST00000254466	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	A
GJB5	2709	genome.wustl.edu	37	1	35223091	35223091	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:35223091A>G	ENST00000338513.1	+	2	333	c.160A>G	c.(160-162)Aat>Gat	p.N54D	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	54					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CTTCGACTGCAATACTCGCCA	0.597																																																	0													132.0	113.0	120.0					1																	35223091		2203	4300	6503	SO:0001583	missense	0			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.160A>G	1.37:g.35223091A>G	ENSP00000340811:p.Asn54Asp		Q9UPA3	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.N54D	ENST00000338513.1	37	c.160	CCDS382.1	1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567117	0.65651	.	.	ENSG00000189280	ENST00000338513	D	0.99382	-5.8	5.89	3.41	0.39046	Connexin, conserved site (1);Connexin, N-terminal (2);	0.094359	0.64402	N	0.000001	D	0.98661	0.9551	L	0.58510	1.815	0.45837	D	0.998703	P	0.34757	0.467	P	0.49561	0.615	D	0.97454	1.0030	10	0.59425	D	0.04	.	8.5155	0.33244	0.8244:0.0:0.1756:0.0	.	54	O95377	CXB5_HUMAN	D	54	ENSP00000340811:N54D	ENSP00000340811:N54D	N	+	1	0	GJB5	34995678	1.000000	0.71417	0.966000	0.40874	0.908000	0.53690	5.314000	0.65804	0.411000	0.25702	0.459000	0.35465	AAT	GJB5	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000189280		0.597	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1		0.00	115	0	A	NM_005268		35223091	+1			no_errors	ENST00000338513	ensembl	human	known	74_37	missense	21.05	75	20	SNP	1.000	G
GBP2	2634	genome.wustl.edu	37	1	89573945	89573945	+	Silent	SNP	G	G	A	rs375772970		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:89573945G>A	ENST00000370466.3	-	11	1957	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	563					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCTCATTCTCGAATCCCTCCT	0.423																																																	0								G		0,4406		0,0,2203	144.0	133.0	137.0		1689	-2.9	0.0	1		137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GBP2	NM_004120.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		563/592	89573945	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1689C>T	1.37:g.89573945G>A			Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.F563	ENST00000370466.3	37	c.1689	CCDS719.1	1																																																																																			GBP2	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000162645		0.423	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2		0.00	66	0	G	NM_004120		89573945	-1			no_errors	ENST00000370466	ensembl	human	known	74_37	silent	20.51	62	16	SNP	0.000	A
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053127	85053127	+	RNA	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:85053127T>G	ENST00000414190.2	-	0	325					NR_003246.2																						ATGTTTTGTTTTTTTTTTTTC	0.363																																																	0																																												0																															15.37:g.85053127T>G				RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.363	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1		0.00	104	0	T			85053127	-1			no_errors	ENST00000414190	ensembl	human	known	74_37	rna	9.21	69	7	SNP	0.002	G
GPHN	10243	genome.wustl.edu	37	14	67382739	67382739	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:67382739G>T	ENST00000315266.5	+	6	1530	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	GPHN_ENST00000478722.1_Missense_Mutation_p.G137W|GPHN_ENST00000305960.9_Missense_Mutation_p.G106W|GPHN_ENST00000543237.1_Missense_Mutation_p.G150W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.G119W	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	137	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGGAATCAGAGGGAAAACGCT	0.378			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													138.0	131.0	134.0					14																	67382739		2203	4300	6503	SO:0001583	missense	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.409G>T	14.37:g.67382739G>T	ENSP00000312771:p.Gly137Trp		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	p.G137W	ENST00000315266.5	37	c.409	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.130068	0.94473	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.95	5.95	0.96441	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.90916	0.4779	10	0.87932	D	0	-5.7805	20.3802	0.98930	0.0:0.0:1.0:0.0	.	106;150;137;137;119	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	W	137;137;119;150;106;70	ENSP00000312771:G137W;ENSP00000417901:G137W;ENSP00000452220:G119W;ENSP00000438404:G150W;ENSP00000303019:G106W;ENSP00000450706:G70W	ENSP00000303019:G106W	G	+	1	0	GPHN	66452492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.822000	0.97130	0.563000	0.77884	GGG	GPHN	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.378	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2		0.00	61	0	G	NM_020806		67382739	+1			no_errors	ENST00000478722	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
GPR124	25960	genome.wustl.edu	37	8	37691252	37691252	+	Missense_Mutation	SNP	G	G	A	rs148143932		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:37691252G>A	ENST00000412232.2	+	10	1356	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	GPR124_ENST00000315215.7_Missense_Mutation_p.R448H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	448					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACCAGCTGCGCGTGTACACA	0.532																																																	0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	104.0	97.0	99.0		1343	4.5	1.0	8	dbSNP_134	99	0,8600		0,0,4300	no	missense	GPR124	NM_032777.9	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	448/1339	37691252	2,13004	2203	4300	6503	SO:0001583	missense	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1343G>A	8.37:g.37691252G>A	ENSP00000406367:p.Arg448His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.R448H	ENST00000412232.2	37	c.1343	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597564	0.46318	4.54E-4	0.0	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	4.51	4.51	0.55191	.	0.075113	0.56097	D	0.000040	T	0.57388	0.2050	L	0.54323	1.7	0.50171	D	0.999851	D;D	0.89917	0.999;1.0	D;D	0.79784	0.974;0.993	T	0.52132	-0.8616	10	0.14656	T	0.56	-9.9222	17.2164	0.86945	0.0:0.0:1.0:0.0	.	448;448	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	441;448;448	ENSP00000323508:R448H;ENSP00000406367:R448H	ENSP00000323508:R448H	R	+	2	0	GPR124	37810410	1.000000	0.71417	0.985000	0.45067	0.115000	0.19883	3.811000	0.55620	2.064000	0.61679	0.561000	0.74099	CGC	GPR124	-	NULL	ENSG00000020181		0.532	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2		0.00	35	0	G			37691252	+1			no_errors	ENST00000412232	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.989	A
GPR19	2842	genome.wustl.edu	37	12	12814459	12814459	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:12814459A>C	ENST00000540510.1	-	2	1116	c.924T>G	c.(922-924)agT>agG	p.S308R	GPR19_ENST00000332427.2_Missense_Mutation_p.S308R			P46093	GPR4_HUMAN	G protein-coupled receptor 19	270					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AAACAAGGGAACTTTTCTTAT	0.393																																																	0													64.0	65.0	65.0					12																	12814459		2203	4300	6503	SO:0001583	missense	0				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.924T>G	12.37:g.12814459A>C	ENSP00000441832:p.Ser308Arg		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S308R	ENST00000540510.1	37	c.924	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740109	0.30865	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.38401	1.14;1.14	5.53	0.0879	0.14452	GPCR, rhodopsin-like superfamily (1);	0.051744	0.85682	D	0.000000	T	0.41696	0.1170	L	0.52011	1.625	0.41515	D	0.98836	D	0.61080	0.989	P	0.59357	0.856	T	0.21861	-1.0233	10	0.23891	T	0.37	-18.9109	9.3346	0.38043	0.4024:0.0:0.5976:0.0	.	308	Q15760	GPR19_HUMAN	R	308	ENSP00000441832:S308R;ENSP00000333744:S308R	ENSP00000333744:S308R	S	-	3	2	GPR19	12705726	0.804000	0.28969	0.998000	0.56505	0.954000	0.61252	-0.078000	0.11375	0.249000	0.21456	0.533000	0.62120	AGT	GPR19	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183150		0.393	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1		0.00	47	0	A	NM_006143		12814459	-1			no_errors	ENST00000332427	ensembl	human	known	74_37	missense	50.00	22	22	SNP	0.995	C
GRIA1	2890	genome.wustl.edu	37	5	152873587	152873587	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:152873587T>C	ENST00000285900.5	+	2	525	c.182T>C	c.(181-183)aTt>aCt	p.I61T	GRIA1_ENST00000518783.1_Missense_Mutation_p.I71T|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.I61T|GRIA1_ENST00000448073.4_Missense_Mutation_p.I71T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.I61T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	61					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGATTGATATTGTGAACATC	0.463																																																	0													96.0	96.0	96.0					5																	152873587		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.182T>C	5.37:g.152873587T>C	ENSP00000285900:p.Ile61Thr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I71T	ENST00000285900.5	37	c.212	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007346	0.54361	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	D;T;D;D;D	0.84146	-1.81;2.78;-1.81;-1.81;-1.81	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.139047	0.64402	D	0.000007	T	0.82148	0.4974	N	0.03608	-0.345	0.80722	D	1	P;P;D;P;P;B	0.54772	0.8;0.8;0.968;0.8;0.762;0.057	B;B;D;B;B;B	0.67900	0.37;0.37;0.954;0.37;0.254;0.105	D	0.85404	0.1133	10	0.41790	T	0.15	.	14.7347	0.69406	0.0:0.0:0.0:1.0	.	71;71;61;71;61;61	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	T	61;61;61;61;71;71	ENSP00000285900:I61T;ENSP00000427920:I61T;ENSP00000339343:I61T;ENSP00000428994:I71T;ENSP00000415569:I71T	ENSP00000285900:I61T	I	+	2	0	GRIA1	152853780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.204000	0.72143	2.060000	0.61445	0.533000	0.62120	ATT	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0.00	37	0	T			152873587	+1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	C
GRID2IP	392862	genome.wustl.edu	37	7	6537450	6537450	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:6537450C>T	ENST00000457091.2	-	22	3590	c.3591G>A	c.(3589-3591)ggG>ggA	p.G1197G	GRID2IP_ENST00000435185.1_Silent_p.G1013G|GRID2IP_ENST00000452113.1_Silent_p.G1006G	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	1197	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GCAGGCCCTCCCCGGCCTGCA	0.677																																																	0													6.0	10.0	9.0					7																	6537450		680	1567	2247	SO:0001819	synonymous_variant	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.3591G>A	7.37:g.6537450C>T				Silent	SNP	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.G1197	ENST00000457091.2	37	c.3591	CCDS47537.1	7																																																																																			GRID2IP	-	smart_FH2_Formin	ENSG00000215045		0.677	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1		0.00	33	0	C	XM_294249		6537450	-1			no_errors	ENST00000457091	ensembl	human	putative	74_37	silent	34.48	19	10	SNP	0.127	T
GRPEL2	134266	genome.wustl.edu	37	5	148730657	148730657	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:148730657G>C	ENST00000329271.3	+	4	600	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	164					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)	p.E164*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGCCTGGAGAAACTGAC	0.517																																																	1	Substitution - Nonsense(1)	lung(1)											147.0	143.0	145.0					5																	148730657		2203	4300	6503	SO:0001583	missense	0			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.490G>C	5.37:g.148730657G>C	ENSP00000329558:p.Glu164Gln		B4DFA6|Q49AJ6	Missense_Mutation	SNP	pfam_GrpE,superfamily_GrpE_head,prints_GrpE	p.E164Q	ENST00000329271.3	37	c.490	CCDS4295.1	5	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348648	0.41599	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.95	2.89	0.33648	GrpE nucleotide exchange factor, head (2);	0.204155	0.42682	N	0.000673	T	0.49729	0.1574	N	0.25485	0.75	0.80722	D	1	B	0.17465	0.022	B	0.19946	0.027	T	0.47824	-0.9087	9	0.33141	T	0.24	-13.0241	16.2933	0.82760	0.0:0.5095:0.4905:0.0	.	164	Q8TAA5	GRPE2_HUMAN	Q	164	.	ENSP00000329558:E164Q	E	+	1	0	GRPEL2	148710850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.717000	0.47227	1.474000	0.48178	0.655000	0.94253	GAG	GRPEL2	-	pfam_GrpE,superfamily_GrpE_head	ENSG00000164284		0.517	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPEL2	HGNC	protein_coding	OTTHUMT00000252327.1		0.00	16	0	G	NM_152407		148730657	+1			no_errors	ENST00000329271	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	C
GUCY2F	2986	genome.wustl.edu	37	X	108638591	108638591	+	Silent	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:108638591A>C	ENST00000218006.2	-	12	2694	c.2403T>G	c.(2401-2403)acT>acG	p.T801T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	801	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTCATCAAAAGTTGGTCGTT	0.498																																																	0													165.0	134.0	145.0					X																	108638591		2203	4300	6503	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2403T>G	X.37:g.108638591A>C			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.T801	ENST00000218006.2	37	c.2403	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101890		0.498	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1		0.00	16	0	A	NM_001522		108638591	-1			no_errors	ENST00000218006	ensembl	human	known	74_37	silent	75.00	2	9	SNP	0.975	C
HCN1	348980	genome.wustl.edu	37	5	45396616	45396616	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:45396616G>A	ENST00000303230.4	-	4	1265	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	403					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCCGCCTCGAAGAATCCAG	0.448																																																	0													51.0	50.0	50.0					5																	45396616		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1208C>T	5.37:g.45396616G>A	ENSP00000307342:p.Ser403Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S403L	ENST00000303230.4	37	c.1208	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.546601	0.96488	.	.	ENSG00000164588	ENST00000303230	D	0.96967	-4.19	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);	0.000000	0.53938	D	0.000060	D	0.96144	0.8743	M	0.82132	2.575	0.80722	D	1	D	0.71674	0.998	B	0.41894	0.369	D	0.96823	0.9605	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	403	O60741	HCN1_HUMAN	L	403	ENSP00000307342:S403L	ENSP00000307342:S403L	S	-	2	0	HCN1	45432373	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	9.657000	0.98554	2.820000	0.97059	0.650000	0.86243	TCG	HCN1	-	superfamily_cNMP-bd-like	ENSG00000164588		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0.00	37	0	G	NM_021072		45396616	-1			no_errors	ENST00000303230	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056307	26056307	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:26056307T>C	ENST00000343677.2	-	1	392	c.350A>G	c.(349-351)aAg>aGg	p.K117R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	117					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						AACCTTGGGCTTGGCTTCCCC	0.582																																																	0													67.0	76.0	73.0					6																	26056307		2203	4300	6503	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.350A>G	6.37:g.26056307T>C	ENSP00000339566:p.Lys117Arg		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K117R	ENST00000343677.2	37	c.350	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606588	0.28623	.	.	ENSG00000187837	ENST00000343677	T	0.09817	2.94	5.54	5.54	0.83059	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.746307	0.12422	N	0.470298	T	0.09992	0.0245	L	0.47016	1.485	0.58432	D	0.999994	D	0.56521	0.976	P	0.50049	0.629	T	0.18999	-1.0319	10	0.30078	T	0.28	-6.4936	15.1351	0.72558	0.0:0.0:0.0:1.0	.	117	P16403	H12_HUMAN	R	117	ENSP00000339566:K117R	ENSP00000339566:K117R	K	-	2	0	HIST1H1C	26164286	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.122000	0.57910	2.229000	0.72834	0.533000	0.62120	AAG	HIST1H1C	-	NULL	ENSG00000187837		0.582	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1		0.00	30	0	T	NM_005319		26056307	-1			no_errors	ENST00000343677	ensembl	human	known	74_37	missense	63.64	12	21	SNP	1.000	C
HIST1H1B	3009	genome.wustl.edu	37	6	27834859	27834859	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:27834859T>C	ENST00000331442.3	-	1	500	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											97.0	111.0	106.0					6																	27834859		2203	4299	6502	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449A>G	6.37:g.27834859T>C	ENSP00000330074:p.Lys150Arg		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K150R	ENST00000331442.3	37	c.449	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041746	0.75732	.	.	ENSG00000184357	ENST00000331442	T	0.16597	2.33	5.19	5.19	0.71726	.	0.336830	0.26594	N	0.023513	T	0.11879	0.0289	N	0.08118	0	0.50467	D	0.999877	D	0.63880	0.993	D	0.70227	0.968	T	0.35574	-0.9783	10	0.26408	T	0.33	-5.5924	14.1885	0.65623	0.0:0.0:0.0:1.0	.	150	P16401	H15_HUMAN	R	150	ENSP00000330074:K150R	ENSP00000330074:K150R	K	-	2	0	HIST1H1B	27942838	1.000000	0.71417	0.828000	0.32881	0.957000	0.61999	6.302000	0.72788	2.103000	0.63969	0.533000	0.62120	AAG	HIST1H1B	-	NULL	ENSG00000184357		0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1		0.00	34	0	T	NM_005322		27834859	-1			no_errors	ENST00000331442	ensembl	human	known	74_37	missense	55.88	14	19	SNP	0.999	C
HMCN1	83872	genome.wustl.edu	37	1	185891577	185891577	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:185891577T>G	ENST00000271588.4	+	7	1196	c.967T>G	c.(967-969)Ttt>Gtt	p.F323V	HMCN1_ENST00000367492.2_Missense_Mutation_p.F323V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	323					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCGAGCTGGCTTTTCTCGAAA	0.413																																																	0													69.0	65.0	67.0					1																	185891577		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.967T>G	1.37:g.185891577T>G	ENSP00000271588:p.Phe323Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.F323V	ENST00000271588.4	37	c.967	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896058	0.91962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.81579	-1.5;-1.51	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90941	0.4797	10	0.54805	T	0.06	.	15.486	0.75569	0.0:0.0:0.0:1.0	.	323	Q96RW7	HMCN1_HUMAN	V	323	ENSP00000271588:F323V;ENSP00000356462:F323V	ENSP00000271588:F323V	F	+	1	0	HMCN1	184158200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.045000	0.60652	0.533000	0.62120	TTT	HMCN1	-	NULL	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	50	0	T	NM_031935		185891577	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G
HMCN1	83872	genome.wustl.edu	37	1	186031030	186031030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:186031030C>T	ENST00000271588.4	+	47	7589	c.7360C>T	c.(7360-7362)Caa>Taa	p.Q2454*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q2454*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2454	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATGCTGGCCAATATACTTG	0.373																																																	0													117.0	128.0	125.0					1																	186031030		2203	4300	6503	SO:0001587	stop_gained	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7360C>T	1.37:g.186031030C>T	ENSP00000271588:p.Gln2454*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Q2454*	ENST00000271588.4	37	c.7360	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	48	14.581008	0.99801	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.39	5.39	0.77823	.	0.188298	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.7008	0.62608	0.1543:0.8457:0.0:0.0	.	.	.	.	X	2454	.	ENSP00000271588:Q2454X	Q	+	1	0	HMCN1	184297653	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.975000	0.49281	2.528000	0.85240	0.591000	0.81541	CAA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	74	0	C	NM_031935		186031030	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T
HSPA9	3313	genome.wustl.edu	37	5	137895569	137895569	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:137895569G>T	ENST00000297185.3	-	11	1519	c.1394C>A	c.(1393-1395)cCa>cAa	p.P465Q	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	465					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTCTTGGTTGGAATAGTGGT	0.438																																																	0													66.0	72.0	70.0					5																	137895569		2203	4300	6503	SO:0001583	missense	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1394C>A	5.37:g.137895569G>T	ENSP00000297185:p.Pro465Gln		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.P465Q	ENST00000297185.3	37	c.1394	CCDS4208.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710634	0.89112	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.45668	0.89	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	H	0.99991	5.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92459	0.5976	10	0.87932	D	0	-10.0854	19.3107	0.94186	0.0:0.0:1.0:0.0	.	396;465	B7Z1V7;P38646	.;GRP75_HUMAN	Q	465;418;451	ENSP00000297185:P465Q	ENSP00000297185:P465Q	P	-	2	0	HSPA9	137923468	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.771000	0.98977	2.749000	0.94314	0.655000	0.94253	CCA	HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1		0.00	76	0	G	NM_004134		137895569	-1			no_errors	ENST00000297185	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
HTR3D	200909	genome.wustl.edu	37	3	183756275	183756275	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:183756275T>C	ENST00000382489.3	+	7	998	c.998T>C	c.(997-999)gTg>gCg	p.V333A	HTR3D_ENST00000334128.2_Missense_Mutation_p.V158A|HTR3D_ENST00000428798.2_Missense_Mutation_p.V283A|HTR3D_ENST00000453435.1_Missense_Mutation_p.V112A	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	333					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CTGCTGCACGTGGCCACCACC	0.652																																																	0													84.0	78.0	80.0					3																	183756275		2203	4300	6503	SO:0001583	missense	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.998T>C	3.37:g.183756275T>C	ENSP00000371929:p.Val333Ala		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.V333A	ENST00000382489.3	37	c.998	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924448	0.52653	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.36	3.36	0.38483	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.125600	0.06984	N	0.820510	T	0.78483	0.4290	L	0.54323	1.7	0.21445	N	0.999688	P;P;B;B	0.38551	0.636;0.619;0.363;0.42	B;B;B;B	0.43052	0.344;0.406;0.281;0.217	T	0.63462	-0.6632	10	0.17369	T	0.5	-6.3797	8.352	0.32307	0.0:0.0:0.0:1.0	.	333;158;112;158	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	A	158;283;333;112	ENSP00000334315:V158A;ENSP00000405409:V283A;ENSP00000371929:V333A;ENSP00000389268:V112A	ENSP00000334315:V158A	V	+	2	0	HTR3D	185238969	0.055000	0.20627	1.000000	0.80357	0.814000	0.46013	0.055000	0.14229	1.533000	0.49186	0.379000	0.24179	GTG	HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000186090		0.652	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1		0.00	42	0	T	NM_182537		183756275	+1			no_errors	ENST00000382489	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	C
HVCN1	84329	genome.wustl.edu	37	12	111099082	111099082	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:111099082C>T	ENST00000356742.5	-	3	946	c.193G>A	c.(193-195)Gag>Aag	p.E65K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E45K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E65K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E65K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	65					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTGCCTTCCTCGCCTGAGACT	0.612																																																	0													62.0	65.0	64.0					12																	111099082		2203	4300	6503	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.193G>A	12.37:g.111099082C>T	ENSP00000349181:p.Glu65Lys		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E65K	ENST00000356742.5	37	c.193	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	c	16.49	3.136825	0.56936	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.45276	0.9;0.91;0.91;0.93	5.28	4.35	0.52113	.	0.509796	0.19747	N	0.106981	T	0.34513	0.0900	M	0.63428	1.95	0.09310	N	1	B;B	0.23540	0.052;0.087	B;B	0.13407	0.006;0.009	T	0.09164	-1.0687	10	0.27082	T	0.32	-24.3063	6.2109	0.20628	0.1379:0.657:0.1331:0.0721	.	65;65	Q96D96;Q96D96-3	HVCN1_HUMAN;.	K	65;65;65;45;65	ENSP00000449601:E65K;ENSP00000242607:E65K;ENSP00000349181:E65K;ENSP00000412052:E45K	ENSP00000242607:E65K	E	-	1	0	HVCN1	109583465	0.000000	0.05858	0.995000	0.50966	0.109000	0.19521	0.711000	0.25764	2.754000	0.94517	0.457000	0.33378	GAG	HVCN1	-	NULL	ENSG00000122986		0.612	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1		0.00	129	0	C	NM_032369		111099082	-1			no_errors	ENST00000242607	ensembl	human	known	74_37	missense	53.51	53	61	SNP	0.059	T
IQGAP1	8826	genome.wustl.edu	37	15	91016157	91016157	+	Missense_Mutation	SNP	G	G	A	rs200740824		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:91016157G>A	ENST00000268182.5	+	19	2388	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R183H	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	755	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGCAGGCTCGCTGCCGTGGA	0.502																																																	0													100.0	101.0	101.0					15																	91016157		2198	4298	6496	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2264G>A	15.37:g.91016157G>A	ENSP00000268182:p.Arg755His		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.R755H	ENST00000268182.5	37	c.2264	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081698	0.36758	.	.	ENSG00000140575	ENST00000268182	T	0.24908	1.83	6.02	5.06	0.68205	.	0.253406	0.41712	D	0.000829	T	0.27454	0.0674	L	0.60845	1.875	0.44359	D	0.997255	B	0.06786	0.001	B	0.10450	0.005	T	0.08310	-1.0728	10	0.13108	T	0.6	-6.6636	18.0989	0.89499	0.0:0.1298:0.8702:0.0	.	755	P46940	IQGA1_HUMAN	H	755	ENSP00000268182:R755H	ENSP00000268182:R755H	R	+	2	0	IQGAP1	88817161	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.781000	0.85668	2.865000	0.98341	0.655000	0.94253	CGC	IQGAP1	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000140575		0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0.00	31	0	G	NM_003870		91016157	+1			no_errors	ENST00000268182	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.868	A
IGF1R	3480	genome.wustl.edu	37	15	99434636	99434636	+	Silent	SNP	G	G	A	rs370559574		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:99434636G>A	ENST00000268035.6	+	3	1334	c.723G>A	c.(721-723)gcG>gcA	p.A241A	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.A241A|RP11-654A16.1_ENST00000558736.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	241					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCTGCAGCGCGCCTGACAACG	0.637																																																	0													60.0	48.0	52.0					15																	99434636		2197	4297	6494	SO:0001819	synonymous_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.723G>A	15.37:g.99434636G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.A241	ENST00000268035.6	37	c.723	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000140443		0.637	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0.00	27	0	G	NM_000875		99434636	+1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.001	A
ITGA2	3673	genome.wustl.edu	37	5	52385875	52385875	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:52385875G>T	ENST00000296585.5	+	29	3591	c.3448G>T	c.(3448-3450)Gtt>Ttt	p.V1150F	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1150					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTAGCTCTGGTTGCAATTTT	0.373																																																	0													156.0	178.0	170.0					5																	52385875		2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3448G>T	5.37:g.52385875G>T	ENSP00000296585:p.Val1150Phe		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.V1150F	ENST00000296585.5	37	c.3448	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427936	0.62733	.	.	ENSG00000164171	ENST00000296585	T	0.61392	0.11	5.77	2.44	0.29823	.	0.355668	0.28560	N	0.014904	T	0.60392	0.2265	M	0.75615	2.305	0.21579	N	0.999631	P	0.44776	0.843	P	0.49252	0.604	T	0.53387	-0.8446	10	0.52906	T	0.07	.	5.6681	0.17707	0.237:0.1599:0.6031:0.0	.	1150	P17301	ITA2_HUMAN	F	1150	ENSP00000296585:V1150F	ENSP00000296585:V1150F	V	+	1	0	ITGA2	52421632	1.000000	0.71417	0.588000	0.28705	0.864000	0.49448	2.616000	0.46376	0.852000	0.35287	0.650000	0.86243	GTT	ITGA2	-	prints_Integrin_alpha	ENSG00000164171		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0.00	104	0	G	NM_002203		52385875	+1			no_errors	ENST00000296585	ensembl	human	known	74_37	missense	13.00	87	13	SNP	0.227	T
ITPKB	3707	genome.wustl.edu	37	1	226825421	226825421	+	Silent	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:226825421G>T	ENST00000272117.3	-	6	2583	c.2584C>A	c.(2584-2586)Cga>Aga	p.R862R	ITPKB_ENST00000429204.1_Silent_p.R862R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	862					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGAGTGGTTCGAATGGCCTTC	0.552											OREG0014299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(84;110 1851 5306 33547)												0													87.0	81.0	83.0					1																	226825421		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2584C>A	1.37:g.226825421G>T		2315	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	pfam_IPK	p.R862	ENST00000272117.3	37	c.2584	CCDS1555.1	1																																																																																			ITPKB	-	pfam_IPK	ENSG00000143772		0.552	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1		0.00	28	0	G	NM_002221		226825421	-1			no_errors	ENST00000272117	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.991	T
KCNN2	3781	genome.wustl.edu	37	5	113698686	113698686	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:113698686G>A	ENST00000512097.3	+	2	1232	c.214G>A	c.(214-216)Gag>Aag	p.E72K	KCNN2_ENST00000264773.3_Missense_Mutation_p.E72K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	72					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GTCTAAGCCCGAGCACAACAA	0.711																																																	0													26.0	24.0	25.0					5																	113698686		2190	4286	6476	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.214G>A	5.37:g.113698686G>A	ENSP00000427120:p.Glu72Lys		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.E72K	ENST00000512097.3	37	c.214	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683774	0.88639	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98926	-5.24;-5.24	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000011	D	0.97770	0.9268	M	0.68952	2.095	0.80722	D	1	D	0.55605	0.972	B	0.42361	0.385	D	0.98276	1.0506	10	0.52906	T	0.07	.	18.9222	0.92529	0.0:0.0:1.0:0.0	.	72	Q9H2S1	KCNN2_HUMAN	K	72	ENSP00000427120:E72K;ENSP00000264773:E72K	ENSP00000264773:E72K	E	+	1	0	KCNN2	113726585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.562000	0.86427	0.655000	0.94253	GAG	KCNN2	-	NULL	ENSG00000080709		0.711	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2		0.00	39	0	G	NM_021614		113698686	+1			no_errors	ENST00000264773	ensembl	human	known	74_37	missense	12.12	27	4	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133184938	133184938	+	Silent	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:133184938G>T	ENST00000388996.4	-	7	1467	c.1047C>A	c.(1045-1047)ggC>ggA	p.G349G	KCNQ3_ENST00000521134.1_Silent_p.G229G|KCNQ3_ENST00000519445.1_Silent_p.G349G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	349					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACCCCAGGATGCCCTGGAGGG	0.602																																																	0													95.0	79.0	84.0					8																	133184938		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1047C>A	8.37:g.133184938G>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G349	ENST00000388996.4	37	c.1047	CCDS34943.1	8																																																																																			KCNQ3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000184156		0.602	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2		0.00	24	0	G	NM_004519		133184938	-1			no_errors	ENST00000388996	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.970	T
KCNQ5	56479	genome.wustl.edu	37	6	73904395	73904395	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:73904395G>T	ENST00000370398.1	+	14	2166	c.2057G>T	c.(2056-2058)aGa>aTa	p.R686I	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R705I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R677I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R686I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R687I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R576I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R696I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	686					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AACATCTCGAGAGGCCTGCAG	0.488																																					GBM(142;1375 1859 14391 23261 44706)												0													117.0	119.0	119.0					6																	73904395		2203	4300	6503	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2057G>T	6.37:g.73904395G>T	ENSP00000359425:p.Arg686Ile		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R696I	ENST00000370398.1	37	c.2087	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098834	0.56183	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99474	-5.71;-5.72;-5.72;-5.71;-5.72;-5.75;-5.97	5.32	5.32	0.75619	.	0.075966	0.52532	D	0.000067	D	0.99067	0.9680	M	0.61703	1.905	0.50171	D	0.999859	P;P;B;P;B	0.52692	0.955;0.534;0.004;0.948;0.346	P;P;B;P;B	0.52957	0.714;0.454;0.004;0.66;0.163	D	0.99744	1.1016	10	0.59425	D	0.04	.	18.9881	0.92780	0.0:0.0:1.0:0.0	.	576;696;705;677;686	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	I	705;705;686;686;696;687;677;576	ENSP00000345055:R705I;ENSP00000347326:R686I;ENSP00000359425:R686I;ENSP00000385501:R696I;ENSP00000347853:R687I;ENSP00000384453:R677I;ENSP00000409861:R576I	ENSP00000345055:R705I	R	+	2	0	KCNQ5	73961116	1.000000	0.71417	0.350000	0.25708	0.868000	0.49771	9.193000	0.94954	2.486000	0.83907	0.561000	0.74099	AGA	KCNQ5	-	NULL	ENSG00000185760		0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3		0.00	34	0	G	NM_019842		73904395	+1			no_errors	ENST00000402622	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.982	T
KDM5B	10765	genome.wustl.edu	37	1	202709863	202709863	+	Missense_Mutation	SNP	G	G	A	rs575015025		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:202709863G>A	ENST00000367265.3	-	20	4187	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	KDM5B_ENST00000367264.2_Missense_Mutation_p.A1044V	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1008					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCAGAGCCGCACCATTGGG	0.453																																																	0													79.0	82.0	81.0					1																	202709863		2203	4300	6503	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3023C>T	1.37:g.202709863G>A	ENSP00000356234:p.Ala1008Val		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.A1044V	ENST00000367265.3	37	c.3131	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542824	0.27563	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.47869	0.83;0.83;0.83	5.73	0.0137	0.14097	Lysine-specific demethylase-like domain (1);	0.802027	0.11905	N	0.518256	T	0.38612	0.1047	L	0.48642	1.525	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.14023	0.004;0.01	T	0.28490	-1.0042	10	0.30078	T	0.28	-1.7373	11.0055	0.47631	0.6727:0.0:0.3273:0.0	.	1044;1008	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	V	1008;850;1044;850	ENSP00000356234:A1008V;ENSP00000356233:A1044V;ENSP00000235790:A850V	ENSP00000235790:A850V	A	-	2	0	KDM5B	200976486	0.001000	0.12720	0.011000	0.14972	0.953000	0.61014	0.539000	0.23175	-0.126000	0.11682	0.557000	0.71058	GCG	KDM5B	-	pfam_Lys_sp_deMease_like_dom	ENSG00000117139		0.453	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2		0.00	36	0	G	NM_006618		202709863	-1			no_errors	ENST00000367264	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.001	A
KDM6B	23135	genome.wustl.edu	37	17	7752830	7752830	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:7752830G>A	ENST00000448097.2	+	11	3555	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	KDM6B_ENST00000254846.5_Missense_Mutation_p.R1075Q			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1075	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AAGAAGGCTCGGGAGGAAGCC	0.662																																																	0													14.0	17.0	16.0					17																	7752830		2196	4287	6483	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3224G>A	17.37:g.7752830G>A	ENSP00000412513:p.Arg1075Gln		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1075Q	ENST00000448097.2	37	c.3224		17	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426000	0.25726	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.32988	1.43;1.44	3.96	2.95	0.34219	.	0.416880	0.21041	N	0.081171	T	0.15652	0.0377	N	0.14661	0.345	0.26009	N	0.982015	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.19778	-1.0295	10	0.21014	T	0.42	-4.3542	8.3098	0.32064	0.1223:0.0:0.8777:0.0	.	1075;1075	O15054;O15054-1	KDM6B_HUMAN;.	Q	1075	ENSP00000254846:R1075Q;ENSP00000412513:R1075Q	ENSP00000254846:R1075Q	R	+	2	0	KDM6B	7693555	0.746000	0.28272	0.968000	0.41197	0.875000	0.50365	1.475000	0.35409	0.965000	0.38133	0.462000	0.41574	CGG	KDM6B	-	NULL	ENSG00000132510		0.662	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0.00	75	0	G	XM_043272		7752830	+1			no_errors	ENST00000254846	ensembl	human	known	74_37	missense	58.21	28	39	SNP	0.904	A
KIAA0100	9703	genome.wustl.edu	37	17	26958852	26958852	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:26958852C>T	ENST00000528896.2	-	22	4156	c.4082G>A	c.(4081-4083)cGg>cAg	p.R1361Q	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1218Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1218Q|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1361						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGTATAAGCCGCTGAGTCCC	0.493																																																	0													100.0	104.0	103.0					17																	26958852		2203	4300	6503	SO:0001583	missense	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4082G>A	17.37:g.26958852C>T	ENSP00000436773:p.Arg1361Gln		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R1361Q	ENST00000528896.2	37	c.4082	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.304561	0.95601	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23950	1.88;1.88	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.13575	-1.0504	10	0.13470	T	0.59	.	20.0793	0.97766	0.0:1.0:0.0:0.0	.	1361	Q14667	K0100_HUMAN	Q	1361;1331;1361;1218	ENSP00000436773:R1361Q;ENSP00000446443:R1218Q	ENSP00000005905:R1361Q	R	-	2	0	KIAA0100	23982979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.735000	0.93741	0.650000	0.86243	CGG	KIAA0100	-	NULL	ENSG00000007202		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3		0.00	20	0	C	NM_014680		26958852	-1			no_errors	ENST00000528896	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
KIF4B	285643	genome.wustl.edu	37	5	154396400	154396400	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:154396400T>G	ENST00000435029.4	+	1	3141	c.2981T>G	c.(2980-2982)cTg>cGg	p.L994R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	994	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGCAGAAACTGATCCTCCTC	0.438																																																	0													155.0	158.0	157.0					5																	154396400		2203	4300	6503	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2981T>G	5.37:g.154396400T>G	ENSP00000387875:p.Leu994Arg			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L994R	ENST00000435029.4	37	c.2981	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	t	6.869	0.529662	0.13127	.	.	ENSG00000226650	ENST00000435029	T	0.69561	-0.41	1.55	0.27	0.15635	.	.	.	.	.	T	0.54367	0.1854	L	0.59436	1.845	0.35426	D	0.793629	B	0.32573	0.376	B	0.29598	0.104	T	0.52845	-0.8521	9	0.34782	T	0.22	.	5.7956	0.18385	0.0:0.0:0.2731:0.7269	.	994	Q2VIQ3	KIF4B_HUMAN	R	994	ENSP00000387875:L994R	ENSP00000387875:L994R	L	+	2	0	KIF4B	154376593	0.968000	0.33430	0.552000	0.28243	0.143000	0.21401	2.086000	0.41643	0.056000	0.16144	-0.429000	0.05907	CTG	KIF4B	-	NULL	ENSG00000226650		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1		0.00	38	0	T			154396400	+1			no_errors	ENST00000435029	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.976	G
Unknown	0	genome.wustl.edu	37	GL000209.1	18675	18675	+	IGR	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrGL000209.1:18675C>T								None (None upstream) : None (None downstream)																							CAGTGGTCATCATCCCCTTTG	0.483																																																	0																																										SO:0001628	intergenic_variant	0																															GL000209.1.37:g.18675C>T				Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.I332		37	c.996		GL000209.1																																																																																			KIR2DL2	-	NULL	ENSG00000215764	0	0.483					KIR2DL2	HGNC				0.00	153	0	C			18675	+1			no_errors	ENST00000400875	ensembl	human	known	74_37	silent	21.43	110	30	SNP	NULL	T
KLB	152831	genome.wustl.edu	37	4	39408705	39408705	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:39408705C>T	ENST00000257408.4	+	1	233	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	46					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGCACTTATTCTGCTACGAGC	0.403																																																	0													108.0	104.0	106.0					4																	39408705		2203	4300	6503	SO:0001819	synonymous_variant	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.136C>T	4.37:g.39408705C>T			Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L46	ENST00000257408.4	37	c.136	CCDS3451.1	4																																																																																			KLB	-	NULL	ENSG00000134962		0.403	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1		0.00	32	0	C	NM_175737		39408705	+1			no_errors	ENST00000257408	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.005	T
KLKB1	3818	genome.wustl.edu	37	4	187175794	187175794	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:187175794G>C	ENST00000264690.6	+	12	1553	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H	KLKB1_ENST00000513864.1_Missense_Mutation_p.D456H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	456	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAATCTGTCAGACATTACAAA	0.368																																																	0													119.0	117.0	118.0					4																	187175794		2203	4300	6503	SO:0001583	missense	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1366G>C	4.37:g.187175794G>C	ENSP00000264690:p.Asp456His		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.D456H	ENST00000264690.6	37	c.1366	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.084356|2.084356	0.36758|0.36758	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.88354|.	-2.37;-2.37|.	5.7|5.7	3.06|3.06	0.35304|0.35304	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.553105|.	0.19406|.	N|.	0.115058|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.11756|0.11756	0.17|0.17	0.25495|0.25495	N|N	0.987607|0.987607	P;P;P|.	0.39094|.	0.659;0.623;0.659|.	B;B;B|.	0.43155|.	0.269;0.41;0.269|.	T|T	0.22452|0.22452	-1.0216|-1.0216	10|5	0.66056|.	D|.	0.02|.	.|.	8.5585|8.5585	0.33496|0.33496	0.2892:0.0:0.7108:0.0|0.2892:0.0:0.7108:0.0	.|.	418;456;456|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	H|H	456;456;418|503	ENSP00000264690:D456H;ENSP00000424469:D456H|.	ENSP00000264690:D456H|.	D|Q	+|+	1|3	0|2	KLKB1|KLKB1	187412788|187412788	1.000000|1.000000	0.71417|0.71417	0.143000|0.143000	0.22291|0.22291	0.281000|0.281000	0.26958|0.26958	2.284000|2.284000	0.43478|0.43478	0.778000|0.778000	0.33520|0.33520	0.655000|0.655000	0.94253|0.94253	GAC|CAG	KLKB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000164344		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1		0.00	35	0	G	NM_000892		187175794	+1			no_errors	ENST00000264690	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.928	C
LBX1	10660	genome.wustl.edu	37	10	102987416	102987416	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:102987416C>T	ENST00000370193.2	-	2	1435	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	153					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCGCGATCGGCGGGGGACAGG	0.587																																																	0													90.0	95.0	93.0					10																	102987416		2203	4300	6503	SO:0001583	missense	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.457G>A	10.37:g.102987416C>T	ENSP00000359212:p.Ala153Thr		B9EGA2|Q05BB2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.A153T	ENST00000370193.2	37	c.457	CCDS31270.1	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475505	0.84640	.	.	ENSG00000138136	ENST00000370193	D	0.96200	-3.94	5.61	5.61	0.85477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	N	0.12961	0.28	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.94306	0.7541	10	0.54805	T	0.06	.	12.5865	0.56421	0.0:0.9233:0.0:0.0767	.	153	P52954	LBX1_HUMAN	T	153	ENSP00000359212:A153T	ENSP00000359212:A153T	A	-	1	0	LBX1	102977406	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.946000	0.70234	2.646000	0.89796	0.561000	0.74099	GCC	LBX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000138136		0.587	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3		0.00	58	0	C	NM_006562		102987416	-1			no_errors	ENST00000370193	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.996	T
LCN9	392399	genome.wustl.edu	37	9	138557177	138557177	+	Missense_Mutation	SNP	G	G	A	rs374188235		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:138557177G>A	ENST00000277526.3	+	4	394	c.394G>A	c.(394-396)Gag>Aag	p.E132K	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	132						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAACGGGACCGAGACCCACAC	0.632																																																	0								G	LYS/GLU	0,4222		0,0,2111	67.0	76.0	73.0		394	-5.8	0.0	9		73	2,8402		0,2,4200	no	missense	LCN9	NM_001001676.1	56	0,2,6311	AA,AG,GG		0.0238,0.0,0.0158	benign	132/177	138557177	2,12624	2111	4202	6313	SO:0001583	missense	0			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.394G>A	9.37:g.138557177G>A	ENSP00000277526:p.Glu132Lys		C9J5F0|Q6JVE7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin	p.E132K	ENST00000277526.3	37	c.394	CCDS56593.1	9	.	.	.	.	.	.	.	.	.	.	G	4.920	0.170960	0.09391	0.0	2.38E-4	ENSG00000148386	ENST00000277526	T	0.07444	3.19	2.9	-5.8	0.02347	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.729430	0.01871	N	0.037208	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.37407	-0.9707	10	0.09084	T	0.74	-1.1652	1.7734	0.03016	0.2825:0.3941:0.1892:0.1341	.	132	Q8WX39	LCN9_HUMAN	K	132	ENSP00000277526:E132K	ENSP00000277526:E132K	E	+	1	0	LCN9	137696998	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.429000	0.02437	-1.848000	0.01172	-0.379000	0.06801	GAG	LCN9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148386		0.632	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	HGNC	protein_coding	OTTHUMT00000410711.1		0.00	58	0	G	NM_001001676		138557177	+1			no_errors	ENST00000277526	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	A
LENG9	94059	genome.wustl.edu	37	19	54973785	54973785	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:54973785G>A	ENST00000333834.4	-	1	1109	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	331							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TGTAGCCCAGGCTCGGTCACC	0.627																																																	0													55.0	50.0	52.0					19																	54973785		2203	4300	6503	SO:0001583	missense	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.991C>T	19.37:g.54973785G>A	ENSP00000331647:p.Pro331Ser		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.P331S	ENST00000333834.4	37	c.991	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455236	0.26161	.	.	ENSG00000182909	ENST00000333834	T	0.64803	-0.12	3.98	-1.09	0.09904	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.412413	0.23840	N	0.044057	T	0.48114	0.1482	L	0.59436	1.845	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.29305	-1.0016	10	0.32370	T	0.25	-4.4015	3.3568	0.07172	0.0948:0.3143:0.4295:0.1615	.	331	Q96B70	LENG9_HUMAN	S	331	ENSP00000331647:P331S	ENSP00000331647:P331S	P	-	1	0	LENG9	59665597	0.028000	0.19301	0.000000	0.03702	0.002000	0.02628	0.562000	0.23531	-0.140000	0.11394	-1.175000	0.01729	CCT	LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.627	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3		0.00	45	0	G	NM_198988		54973785	-1			no_errors	ENST00000333834	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.000	A
GHRL	51738	genome.wustl.edu	37	3	10326652	10326652	+	IGR	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:10326652G>A	ENST00000335542.8	-	0	1425				GHRLOS_ENST00000439539.3_RNA|LINC00852_ENST00000475197.1_RNA|RP11-438J1.1_ENST00000450534.1_Intron|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000605105.1_RNA|LINC00852_ENST00000538717.1_RNA|GHRL_ENST00000476283.1_5'Flank			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide						actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CCCCCGGGAAGACCAGTGTCG	0.527																																																	0													110.0	93.0	98.0					3																	10326652		692	1591	2283	SO:0001628	intergenic_variant	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360		3.37:g.10326652G>A			A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	RNA	SNP	-	NULL	ENST00000335542.8	37	NULL	CCDS33700.1	3																																																																																			LINC00852	-	-	ENSG00000231177		0.527	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LINC00852	HGNC	protein_coding	OTTHUMT00000339625.1		0.00	52	0	G	NM_016362		10326652	+1			no_errors	ENST00000475197	ensembl	human	known	74_37	rna	46.81	25	22	SNP	0.000	A
LOC100190940	100190940	genome.wustl.edu	37	12	130521297	130521297	+	lincRNA	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:130521297G>A	ENST00000567788.1	-	0	1404				RP11-474D1.4_ENST00000561864.1_lincRNA																							GAAATTCTTTGCAAACAAAGA	0.408																																																	0																																												0																															12.37:g.130521297G>A				RNA	SNP	-	NULL	ENST00000567788.1	37	NULL		12																																																																																			RP11-474D1.3	-	-	ENSG00000214039		0.408	RP11-474D1.3-001	KNOWN	basic	lincRNA	LOC100190940	Clone_based_vega_gene	lincRNA	OTTHUMT00000399498.1		0.00	45	0	G			130521297	-1			no_errors	ENST00000291374	ensembl	human	known	74_37	rna	24.49	37	12	SNP	0.808	A
LPAL2	80350	genome.wustl.edu	37	6	160908455	160908455	+	RNA	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:160908455G>T	ENST00000335388.5	-	0	517					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGTAGTTGGAGATCAAGCCAC	0.473																																																	0													118.0	103.0	108.0					6																	160908455		2203	4300	6503			0			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908455G>T			E1P5B4	RNA	SNP	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-	ENSG00000213071		0.473	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1		0.00	53	0	G	NM_024492		160908455	-1			no_errors	ENST00000335388	ensembl	human	known	74_37	rna	7.69	47	4	SNP	0.000	T
LRFN5	145581	genome.wustl.edu	37	14	42360955	42360955	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:42360955C>T	ENST00000298119.4	+	4	3077	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	630						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCTGCTTTGCCTCCTTCCTG	0.458										HNSCC(30;0.082)																																							0													126.0	103.0	111.0					14																	42360955		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1888C>T	14.37:g.42360955C>T	ENSP00000298119:p.Pro630Ser		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P630S	ENST00000298119.4	37	c.1888	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967294	0.18659	.	.	ENSG00000165379	ENST00000298119	T	0.40476	1.03	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000029	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.08599	T	0.76	.	11.0929	0.48125	0.0:0.9166:0.0:0.0834	.	630	Q96NI6	LRFN5_HUMAN	S	630	ENSP00000298119:P630S	ENSP00000298119:P630S	P	+	1	0	LRFN5	41430705	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.292000	0.59031	2.808000	0.96608	0.650000	0.86243	CCT	LRFN5	-	NULL	ENSG00000165379		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1		0.00	40	0	C	NM_152447		42360955	+1			no_errors	ENST00000298119	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
LRP2	4036	genome.wustl.edu	37	2	170115563	170115563	+	Missense_Mutation	SNP	G	G	A	rs368619363		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:170115563G>A	ENST00000263816.3	-	17	2770	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	LRP2_ENST00000443831.1_Missense_Mutation_p.R692W	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	829					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCACCGACCGTGGGTTATTT	0.403																																																	0								G	TRP/ARG	0,4406		0,0,2203	136.0	133.0	134.0		2485	3.9	0.2	2		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	829/4656	170115563	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2485C>T	2.37:g.170115563G>A	ENSP00000263816:p.Arg829Trp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R829W	ENST00000263816.3	37	c.2485	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281559	0.40394	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96774	-3.29;-4.12	5.77	3.9	0.45041	Six-bladed beta-propeller, TolB-like (1);	0.058311	0.64402	D	0.000002	D	0.98438	0.9480	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.915	D	0.98911	1.0780	10	0.87932	D	0	.	14.7946	0.69868	0.0:0.0:0.7363:0.2637	.	692;829	E9PC35;P98164	.;LRP2_HUMAN	W	829;692	ENSP00000263816:R829W;ENSP00000409813:R692W	ENSP00000263816:R829W	R	-	1	2	LRP2	169823809	1.000000	0.71417	0.232000	0.24009	0.017000	0.09413	2.134000	0.42102	0.710000	0.31997	0.591000	0.81541	CGG	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0.00	36	0	G	NM_004525		170115563	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.983	A
LSM14B	149986	genome.wustl.edu	37	20	60705584	60705584	+	Splice_Site	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:60705584A>G	ENST00000279068.6	+	6	833		c.e6-1		LSM14B_ENST00000253001.4_Splice_Site	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)						multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TTGTCCTCACAGGAAACAGGC	0.498																																																	0													57.0	56.0	56.0					20																	60705584		1985	4146	6131	SO:0001630	splice_region_variant	0			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.674-1A>G	20.37:g.60705584A>G			Q6PFW8|Q96LH8	Splice_Site	SNP	-	e6-2	ENST00000279068.6	37	c.674-2	CCDS46626.1	20	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649533	0.67358	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4482	0.75248	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LSM14B	60138979	1.000000	0.71417	0.966000	0.40874	0.907000	0.53573	5.335000	0.65929	2.125000	0.65367	0.454000	0.30748	.	LSM14B	-	-	ENSG00000149657		0.498	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4		0.00	36	0	A	NM_144703	Intron	60705584	+1			no_errors	ENST00000253001	ensembl	human	known	74_37	splice_site	10.87	41	5	SNP	0.995	G
LY9	4063	genome.wustl.edu	37	1	160784259	160784259	+	Silent	SNP	C	C	T	rs375232078		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:160784259C>T	ENST00000263285.6	+	4	810	c.780C>T	c.(778-780)gtC>gtT	p.V260V	LY9_ENST00000368037.5_Silent_p.V260V|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Silent_p.V260V|LY9_ENST00000368041.2_Silent_p.V220V|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.V260V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	260	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGTAGGGGTCCTGGGAGAGC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16473	0.0		0.0	False		,,,				2504	0.0																0								C		2,4404	4.2+/-10.8	0,2,2201	66.0	66.0	66.0		780	2.0	0.2	1		66	0,8600		0,0,4300	no	coding-synonymous	LY9	NM_002348.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		260/656	160784259	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.780C>T	1.37:g.160784259C>T			A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.V260	ENST00000263285.6	37	c.780	CCDS30916.1	1																																																																																			LY9	-	smart_Ig_sub	ENSG00000122224		0.562	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3		0.00	11	0	C	NM_002348		160784259	+1			no_errors	ENST00000263285	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.187	T
MAML2	84441	genome.wustl.edu	37	11	95712485	95712485	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:95712485C>T	ENST00000524717.1	-	5	4382	c.3098G>A	c.(3097-3099)aGc>aAc	p.S1033N		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1033					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TAGTGTTTGGCTCATTTGGTT	0.493			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													148.0	128.0	134.0					11																	95712485		1911	4128	6039	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3098G>A	11.37:g.95712485C>T	ENSP00000434552:p.Ser1033Asn		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S1033N	ENST00000524717.1	37	c.3098	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130905	0.06753	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.39229	1.09;1.09	5.72	-0.305	0.12784	.	0.436730	0.24508	N	0.037910	T	0.15696	0.0378	N	0.11000	0.08	0.24758	N	0.992943	B	0.06786	0.001	B	0.04013	0.001	T	0.31110	-0.9955	10	0.02654	T	1	-4.623	6.5431	0.22390	0.0:0.4406:0.1246:0.4348	.	1033	Q8IZL2	MAML2_HUMAN	N	1033	ENSP00000434552:S1033N;ENSP00000412394:S1033N	ENSP00000412394:S1033N	S	-	2	0	MAML2	95352133	0.985000	0.35326	0.178000	0.23040	0.994000	0.84299	0.184000	0.16939	-0.035000	0.13691	0.561000	0.74099	AGC	MAML2	-	NULL	ENSG00000184384		0.493	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0.00	41	0	C			95712485	-1			no_errors	ENST00000524717	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.966	T
MAOA	4128	genome.wustl.edu	37	X	43591035	43591035	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:43591035G>A	ENST00000338702.3	+	8	1013	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	MAOA_ENST00000542639.1_Missense_Mutation_p.R164Q	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	297					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	TTAATTCAGCGGCTTCCAATG	0.423																																																	0													98.0	84.0	88.0					X																	43591035		2203	4300	6503	SO:0001583	missense	0				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.890G>A	X.37:g.43591035G>A	ENSP00000340684:p.Arg297Gln		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.R297Q	ENST00000338702.3	37	c.890	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.496103	0.96355	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.93307	-3.2;-3.2	5.62	5.62	0.85841	Amine oxidase (1);	0.048394	0.85682	D	0.000000	D	0.96787	0.8951	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.96966	0.9705	10	0.59425	D	0.04	.	18.7135	0.91667	0.0:0.0:1.0:0.0	.	297	P21397	AOFA_HUMAN	Q	297;164	ENSP00000340684:R297Q;ENSP00000440846:R164Q	ENSP00000340684:R297Q	R	+	2	0	MAOA	43475979	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	9.337000	0.96545	2.365000	0.80145	0.538000	0.68166	CGG	MAOA	-	pfam_Amino_oxidase	ENSG00000189221		0.423	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1		0.00	28	0	G	NM_000240		43591035	+1			no_errors	ENST00000338702	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A
MAP4K2	5871	genome.wustl.edu	37	11	64564480	64564480	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:64564480C>T	ENST00000294066.2	-	20	1472	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G453R	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	461					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGGGGAGCCCGTGGCAGGAT	0.637																																																	0													62.0	60.0	61.0					11																	64564480		2201	4297	6498	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1381G>A	11.37:g.64564480C>T	ENSP00000294066:p.Gly461Arg		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.G461R	ENST00000294066.2	37	c.1381	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399535	0.83120	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.76060	-0.99;-0.68	4.51	4.51	0.55191	.	0.383844	0.25060	N	0.033445	D	0.83871	0.5348	M	0.65677	2.01	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85554	0.1223	10	0.87932	D	0	.	13.1403	0.59430	0.0:1.0:0.0:0.0	.	453;461	Q86VU3;Q12851	.;M4K2_HUMAN	R	461;453	ENSP00000294066:G461R;ENSP00000366567:G453R	ENSP00000294066:G461R	G	-	1	0	MAP4K2	64321056	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.401000	0.73256	2.247000	0.74100	0.558000	0.71614	GGG	MAP4K2	-	NULL	ENSG00000168067		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1		0.00	87	0	C	NM_004579		64564480	-1			no_errors	ENST00000294066	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	T
MCOLN1	57192	genome.wustl.edu	37	19	7592758	7592758	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:7592758A>G	ENST00000264079.6	+	6	814	c.689A>G	c.(688-690)aAt>aGt	p.N230S		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	230					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGCTGGTCAATGTCACCATC	0.617																																																	0													63.0	66.0	65.0					19																	7592758		2203	4300	6503	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.689A>G	19.37:g.7592758A>G	ENSP00000264079:p.Asn230Ser		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.N230S	ENST00000264079.6	37	c.689	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	A	9.051	0.992011	0.18966	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.54071	0.59	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.37630	1.12	0.80722	D	1	B;B	0.24882	0.113;0.024	B;B	0.24541	0.054;0.014	T	0.22521	-1.0214	10	0.09590	T	0.72	.	13.0738	0.59075	1.0:0.0:0.0:0.0	.	195;230	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	S	230;195	ENSP00000264079:N230S	ENSP00000264079:N230S	N	+	2	0	MCOLN1	7498758	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.823000	0.69272	1.979000	0.57680	0.482000	0.46254	AAT	MCOLN1	-	NULL	ENSG00000090674		0.617	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2		0.00	73	0	A	NM_020533		7592758	+1			no_errors	ENST00000264079	ensembl	human	known	74_37	missense	55.13	35	43	SNP	1.000	G
MED1	5469	genome.wustl.edu	37	17	37576108	37576108	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:37576108T>G	ENST00000394287.3	-	14	1364	c.1159A>C	c.(1159-1161)Agt>Cgt	p.S387R	MED1_ENST00000300651.6_Missense_Mutation_p.S387R			O95243	MBD4_HUMAN	mediator complex subunit 1	0				S -> L (in Ref. 6; BAG64144). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCTGTAGACTTCGGCCATCT	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													115.0	111.0	112.0					17																	37576108		2203	4300	6503	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1159A>C	17.37:g.37576108T>G	ENSP00000377828:p.Ser387Arg		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S387R	ENST00000394287.3	37	c.1159		17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373905	0.82573	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.33654	1.4	5.78	5.78	0.91487	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.47210	0.1433	L	0.39397	1.21	0.49582	D	0.999806	D;D	0.71674	0.998;0.958	D;P	0.66351	0.943;0.663	T	0.39663	-0.9603	9	0.42905	T	0.14	-7.6623	11.2304	0.48910	0.1366:0.0:0.0:0.8634	.	387;387	Q15648;Q15648-3	MED1_HUMAN;.	R	387	ENSP00000300651:S387R	ENSP00000300651:S387R	S	-	1	0	MED1	34829634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.096000	0.71446	2.205000	0.71048	0.477000	0.44152	AGT	MED1	-	pfam_Mediator_Med1_met/fun	ENSG00000125686		0.478	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1		0.00	56	0	T	NM_004774		37576108	-1			no_errors	ENST00000300651	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.998	G
MED12L	116931	genome.wustl.edu	37	3	151087236	151087236	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:151087236C>A	ENST00000474524.1	+	24	3496	c.3458C>A	c.(3457-3459)cCt>cAt	p.P1153H	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.P1013H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1153						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACCTTTCCCTGGAATAAGA	0.373																																																	0													127.0	130.0	129.0					3																	151087236		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3458C>A	3.37:g.151087236C>A	ENSP00000417235:p.Pro1153His		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1153H	ENST00000474524.1	37	c.3458	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288590	0.59976	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.28895	1.59;1.59	5.8	5.8	0.92144	.	0.121598	0.64402	D	0.000020	T	0.28830	0.0715	L	0.44542	1.39	0.80722	D	1	B;D;P	0.54964	0.05;0.969;0.947	B;B;B	0.43916	0.022;0.417;0.436	T	0.03364	-1.1044	10	0.66056	D	0.02	-22.9501	10.1769	0.42943	0.0:0.852:0.0:0.148	.	1013;1152;1153	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	H	1153;1013	ENSP00000417235:P1153H;ENSP00000273432:P1013H	ENSP00000273432:P1013H	P	+	2	0	MED12L	152569926	0.991000	0.36638	0.966000	0.40874	0.847000	0.48162	3.242000	0.51384	2.741000	0.93983	0.585000	0.79938	CCT	MED12L	-	NULL	ENSG00000144893		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0.00	90	0	C	NM_053002		151087236	+1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.977	A
MED13	9969	genome.wustl.edu	37	17	60072604	60072604	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:60072604G>T	ENST00000397786.2	-	10	2166	c.2090C>A	c.(2089-2091)cCa>cAa	p.P697Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	697					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATGCATATGGATCAATTTT	0.333																																																	0													209.0	181.0	190.0					17																	60072604		1837	4087	5924	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2090C>A	17.37:g.60072604G>T	ENSP00000380888:p.Pro697Gln		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P697Q	ENST00000397786.2	37	c.2090	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482308	0.84747	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.87334	-2.24	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93188	0.6580	10	0.87932	D	0	-5.0518	19.3563	0.94416	0.0:0.0:1.0:0.0	.	697	Q9UHV7	MED13_HUMAN	Q	697;696	ENSP00000380888:P697Q	ENSP00000262436:P696Q	P	-	2	0	MED13	57427386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.577000	0.90773	2.648000	0.89879	0.557000	0.71058	CCA	MED13	-	NULL	ENSG00000108510		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1		0.00	54	0	G	NM_005121		60072604	-1			no_errors	ENST00000397786	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	T
MLLT3	4300	genome.wustl.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	4	Substitution - coding silent(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)											10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S155	ENST00000380338.4	37	c.465	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0.00	53	0	G	NM_004529		20414379	-1			no_errors	ENST00000380338	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.991	A
MOB3C	148932	genome.wustl.edu	37	1	47078649	47078649	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:47078649C>T	ENST00000319928.3	-	2	575	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MOB3C_ENST00000371940.1_Silent_p.P138P|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.P167P|MOB3C_ENST00000477318.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	115							metal ion binding (GO:0046872)										CCATATAGCGCGGCGCAGAGA	0.662																																																	0													34.0	39.0	37.0					1																	47078649		2203	4299	6502	SO:0001819	synonymous_variant	0			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.345G>A	1.37:g.47078649C>T			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.P167	ENST00000319928.3	37	c.501	CCDS540.1	1																																																																																			MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000142961		0.662	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding			0.00	61	0	C	NM_145279		47078649	-1			no_errors	ENST00000271139	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.237	T
MPDZ	8777	genome.wustl.edu	37	9	13247762	13247762	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:13247762T>G	ENST00000319217.7	-	3	302	c.55A>C	c.(55-57)Acc>Ccc	p.T19P	MPDZ_ENST00000546205.1_Missense_Mutation_p.T19P|MPDZ_ENST00000541718.1_Missense_Mutation_p.T19P|MPDZ_ENST00000381015.4_Missense_Mutation_p.T19P|MPDZ_ENST00000536827.1_Missense_Mutation_p.T19P|MPDZ_ENST00000381022.2_Missense_Mutation_p.T19P|MPDZ_ENST00000447879.1_Missense_Mutation_p.T19P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	19	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAGCTTGGTTTGCAAGCGC	0.488																																																	0													261.0	250.0	254.0					9																	13247762		1928	4146	6074	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.55A>C	9.37:g.13247762T>G	ENSP00000320006:p.Thr19Pro		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T19P	ENST00000319217.7	37	c.55		9	.	.	.	.	.	.	.	.	.	.	T	11.78	1.739507	0.30774	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.81;2.86;2.86;2.86	5.68	1.68	0.24146	.	0.663319	0.13167	N	0.408606	T	0.05593	0.0147	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.006;0.005;0.005	B;B;B	0.08055	0.003;0.002;0.003	T	0.34153	-0.9840	10	0.31617	T	0.26	.	5.1634	0.15073	0.1453:0.6133:0.0:0.2414	.	19;19;19	B7ZMI4;O75970-3;O75970-2	.;.;.	P	19	ENSP00000320006:T19P;ENSP00000439807:T19P;ENSP00000370410:T19P;ENSP00000444151:T19P;ENSP00000415208:T19P;ENSP00000370403:T19P;ENSP00000446358:T19P	ENSP00000320006:T19P	T	-	1	0	MPDZ	13237762	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.356000	0.34079	0.301000	0.22738	-0.669000	0.03829	ACC	MPDZ	-	pfam_L27_2,pfscan_L27	ENSG00000107186		0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0.00	51	0	T	NM_003829		13247762	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G
MROH8	140699	genome.wustl.edu	37	20	35752070	35752070	+	Missense_Mutation	SNP	C	C	G	rs35287749	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:35752070C>G	ENST00000400441.3	-	15	1917	c.1918G>C	c.(1918-1920)Gac>Cac	p.D640H	MROH8_ENST00000217333.8_Missense_Mutation_p.D469H|MROH8_ENST00000441008.2_Missense_Mutation_p.D626H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	49																	CTTGGGATGTCGACATCAGAC	0.483																																																	0													132.0	132.0	132.0					20																	35752070		2075	4198	6273	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1918G>C	20.37:g.35752070C>G	ENSP00000383291:p.Asp640His		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D640H	ENST00000400441.3	37	c.1918		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.556|6.556	0.470868|0.470868	0.12461|0.12461	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	T;T;T|.	0.03607|.	4.11;4.39;3.87|.	5.4|5.4	-1.47|-1.47	0.08772|0.08772	.|.	1.019820|.	0.07820|.	N|.	0.959558|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999967|0.999967	B;P|.	0.51653|.	0.34;0.947|.	B;P|.	0.48982|.	0.113;0.597|.	T|T	0.28427|0.28427	-1.0044|-1.0044	10|5	0.45353|.	T|.	0.12|.	-9.2644|-9.2644	4.7649|4.7649	0.13127|0.13127	0.1396:0.4487:0.0:0.4118|0.1396:0.4487:0.0:0.4118	.|.	640;474|.	E7ETR9;Q9H579-2|.	.;.|.	H|P	626;640;469|267	ENSP00000392144:D626H;ENSP00000383291:D640H;ENSP00000217333:D469H|.	ENSP00000217333:D469H|.	D|R	-|-	1|2	0|0	C20orf132|C20orf132	35185484|35185484	0.098000|0.098000	0.21812|0.21812	0.633000|0.633000	0.29310|0.29310	0.073000|0.073000	0.16967|0.16967	-0.506000|-0.506000	0.06359|0.06359	-0.229000|-0.229000	0.09854|0.09854	0.491000|0.491000	0.48974|0.48974	GAC|CGA	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding			0.00	37	0	C	NM_152503		35752070	-1			no_errors	ENST00000400441	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.545	G
MSH5	4439	genome.wustl.edu	37	6	31708323	31708323	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:31708323C>T	ENST00000375755.3	+	2	366	c.80C>T	c.(79-81)cCg>cTg	p.P27L	CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.P27L|MSH5_ENST00000375742.3_Missense_Mutation_p.P27L|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Missense_Mutation_p.P27L|MSH5_ENST00000534153.4_Missense_Mutation_p.P27L|MSH5_ENST00000375740.3_Missense_Mutation_p.P27L|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.P27L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	27					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TTCCCCAGCCCGGCCCCAGTG	0.672								Direct reversal of damage;Mismatch excision repair (MMR)																																									0													5.0	6.0	6.0					6																	31708323		2037	4072	6109	SO:0001583	missense	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.80C>T	6.37:g.31708323C>T	ENSP00000364908:p.Pro27Leu		B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.P27L	ENST00000375755.3	37	c.80	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304380	0.40795	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000425703;ENST00000534153;ENST00000375703;ENST00000375740	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	4.53	1.78	0.24846	.	0.730042	0.12392	N	0.472941	T	0.11836	0.0288	L	0.40543	1.245	0.26415	N	0.976198	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.0;0.001;0.003	T	0.11494	-1.0585	9	0.46703	T	0.11	-14.295	6.7465	0.23464	0.0:0.7017:0.0:0.2983	.	27;27;27;27	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	L	27	ENSP00000364908:P27L;ENSP00000364894:P27L;ENSP00000364903:P27L;ENSP00000402842:P27L;ENSP00000431693:P27L;ENSP00000364855:P27L;ENSP00000364892:P27L	ENSP00000364855:P27L	P	+	2	0	MSH5	31816302	0.000000	0.05858	0.053000	0.19242	0.228000	0.25075	-0.077000	0.11394	0.272000	0.22027	0.655000	0.94253	CCG	MSH5	-	NULL	ENSG00000204410		0.672	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4		0.00	18	0	C			31708323	+1			no_errors	ENST00000375742	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.008	T
MT1F	4494	genome.wustl.edu	37	16	56693025	56693025	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:56693025C>T	ENST00000334350.6	+	3	500	c.135C>T	c.(133-135)gcC>gcT	p.A45A	MT1F_ENST00000394501.2_Silent_p.A46A|MT1F_ENST00000568475.1_3'UTR			P04733	MT1F_HUMAN	metallothionein 1F	45	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GCAAGTGTGCCCAGGGCTGTG	0.582																																					Colon(159;794 1866 3818 8748 33331)												0													104.0	106.0	105.0					16																	56693025		2198	4300	6498	SO:0001819	synonymous_variant	0			BC029453	CCDS32456.1	16q13	2008-02-05	2007-03-02			ENSG00000198417		"""Metallothioneins"""	7398	protein-coding gene	gene with protein product		156352		MT1		6089206, 2581970	Standard	NM_005949		Approved		uc002ejt.3	P04733		ENST00000334350.6:c.135C>T	16.37:g.56693025C>T			Q9UI97	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.A46	ENST00000334350.6	37	c.138	CCDS32456.1	16																																																																																			MT1F	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000198417		0.582	MT1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1F	HGNC	protein_coding	OTTHUMT00000433995.2		0.00	91	0	C	NM_005949		56693025	+1			no_errors	ENST00000394501	ensembl	human	known	74_37	silent	21.59	69	19	SNP	1.000	T
MTHFR	4524	genome.wustl.edu	37	1	11855311	11855311	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:11855311G>A	ENST00000376592.1	-	5	1003	c.875C>T	c.(874-876)gCt>gTt	p.A292V	MTHFR_ENST00000376585.1_Missense_Mutation_p.A333V|MTHFR_ENST00000376590.3_Missense_Mutation_p.A292V|MTHFR_ENST00000376583.3_Missense_Mutation_p.A333V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	292					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GCGGATGGCAGCATCGTTGTC	0.592																																																	0													114.0	105.0	108.0					1																	11855311		2203	4300	6503	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.875C>T	1.37:g.11855311G>A	ENSP00000365777:p.Ala292Val		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.A333V	ENST00000376592.1	37	c.998	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183294	0.38511	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.97	1.97	0.26223	.	0.100157	0.64402	D	0.000001	D	0.87928	0.6301	L	0.48218	1.51	0.54753	D	0.999989	B;B	0.17667	0.004;0.023	B;B	0.26614	0.014;0.071	T	0.79500	-0.1778	10	0.33141	T	0.24	.	10.3863	0.44143	0.0:0.1306:0.5985:0.2709	.	292;333	P42898;Q5SNW6	MTHR_HUMAN;.	V	292;333;292;333	ENSP00000365777:A292V;ENSP00000365767:A333V;ENSP00000365775:A292V;ENSP00000365770:A333V	ENSP00000365767:A333V	A	-	2	0	MTHFR	11777898	1.000000	0.71417	0.161000	0.22692	0.887000	0.51463	3.534000	0.53568	0.197000	0.20387	0.462000	0.41574	GCT	MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	ENSG00000177000		0.592	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1		0.00	15	0	G	NM_005957		11855311	-1			no_errors	ENST00000376583	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.985	A
MUC12	10071	genome.wustl.edu	37	7	100646855	100646855	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:100646855C>A	ENST00000379442.3	+	5	13440	c.13440C>A	c.(13438-13440)gaC>gaA	p.D4480E	MUC12_ENST00000536621.1_Missense_Mutation_p.D4337E			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4480	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACTCGAAGGACACTACCCCTG	0.562																																																	0													288.0	252.0	263.0					7																	100646855		687	1588	2275	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13440C>A	7.37:g.100646855C>A	ENSP00000368755:p.Asp4480Glu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.D4337E	ENST00000379442.3	37	c.13011		7	.	.	.	.	.	.	.	.	.	.	N	1.662	-0.511213	0.04231	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12984	2.63;2.63	0.481	0.481	0.16809	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42716	-0.9435	7	0.02654	T	1	.	3.4891	0.07630	0.4457:0.5541:1.0E-4:1.0E-4	.	.	.	.	E	4480;4337	ENSP00000368755:D4480E;ENSP00000441929:D4337E	ENSP00000368755:D4480E	D	+	3	2	MUC12	100433575	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.519000	0.06260	0.504000	0.28082	0.184000	0.17185	GAC	MUC12	-	NULL	ENSG00000205277		0.562	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1		0.00	230	0	C	XM_379904		100646855	+1			no_errors	ENST00000536621	ensembl	human	known	74_37	missense	11.79	187	25	SNP	0.001	A
MUC17	140453	genome.wustl.edu	37	7	100685498	100685498	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:100685498G>T	ENST00000306151.4	+	3	10865	c.10801G>T	c.(10801-10803)Gtt>Ttt	p.V3601F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3601	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCTTCTGTTGACAGAAG	0.463																																																	0													162.0	152.0	155.0					7																	100685498		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10801G>T	7.37:g.100685498G>T	ENSP00000302716:p.Val3601Phe		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V3601F	ENST00000306151.4	37	c.10801	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	7.555	0.663456	0.14710	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.78	-2.51	0.06365	.	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	D	0.79784	0.993	T	0.39313	-0.9620	9	0.56958	D	0.05	.	3.829	0.08867	0.3007:0.2127:0.4866:0.0	.	3601	Q685J3	MUC17_HUMAN	F	3601	ENSP00000302716:V3601F	ENSP00000302716:V3601F	V	+	1	0	MUC17	100472218	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.916000	0.01576	-0.471000	0.06891	0.186000	0.17326	GTT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0.00	94	0	G	NM_001040105		100685498	+1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.000	T
MYH4	4622	genome.wustl.edu	37	17	10356581	10356581	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:10356581T>G	ENST00000255381.2	-	24	3109	c.2999A>C	c.(2998-3000)aAg>aCg	p.K1000T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1000					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAGAGCCTTCTTCTCCTTGGT	0.488																																																	0													231.0	212.0	218.0					17																	10356581		2203	4298	6501	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2999A>C	17.37:g.10356581T>G	ENSP00000255381:p.Lys1000Thr			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1000T	ENST00000255381.2	37	c.2999	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003935	0.74932	.	.	ENSG00000141048	ENST00000255381	D	0.88201	-2.35	5.19	5.19	0.71726	.	0.000000	0.39146	U	0.001450	D	0.93690	0.7984	H	0.97682	4.055	0.58432	D	0.999998	B	0.33171	0.4	B	0.37239	0.244	D	0.94435	0.7653	10	0.66056	D	0.02	.	15.3343	0.74238	0.0:0.0:0.0:1.0	.	1000	Q9Y623	MYH4_HUMAN	T	1000	ENSP00000255381:K1000T	ENSP00000255381:K1000T	K	-	2	0	MYH4	10297306	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.138000	0.71717	2.078000	0.62432	0.482000	0.46254	AAG	MYH4	-	NULL	ENSG00000264424		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0.00	136	0	T	NM_017533		10356581	-1			no_errors	ENST00000255381	ensembl	human	known	74_37	missense	44.55	61	49	SNP	1.000	G
MYH2	4620	genome.wustl.edu	37	17	10428384	10428384	+	Splice_Site	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:10428384T>G	ENST00000245503.5	-	34	5047		c.e34-2		RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGAGATGCCTTAATGACAGC	0.388																																																	0													77.0	78.0	78.0					17																	10428384		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4663-2A>C	17.37:g.10428384T>G			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	-	e32-2	ENST00000245503.5	37	c.4663-2	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340829	0.60963	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4951	0.75643	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10369109	1.000000	0.71417	0.940000	0.37924	0.991000	0.79684	7.846000	0.86887	2.247000	0.74100	0.482000	0.46254	.	MYH2	-	-	ENSG00000125414		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3		0.00	63	0	T	NM_017534	Intron	10428384	-1			no_errors	ENST00000245503	ensembl	human	known	74_37	splice_site	47.06	27	24	SNP	0.992	G
NBAS	51594	genome.wustl.edu	37	2	15618399	15618399	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:15618399G>T	ENST00000281513.5	-	13	1123	c.1098C>A	c.(1096-1098)gaC>gaA	p.D366E	NBAS_ENST00000441750.1_Missense_Mutation_p.D366E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	366					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGATTAAGGTCATCATAGC	0.308																																																	0													66.0	65.0	65.0					2																	15618399		2203	4299	6502	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1098C>A	2.37:g.15618399G>T	ENSP00000281513:p.Asp366Glu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.D366E	ENST00000281513.5	37	c.1098	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	6.249	0.414021	0.11870	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.41065	1.01;1.01	5.47	-0.948	0.10379	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.155386	0.56097	N	0.000026	T	0.09992	0.0245	N	0.00308	-1.67	0.19945	N	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.87932	D	0	.	5.1091	0.14800	0.0676:0.1687:0.3937:0.37	.	366	A2RRP1	NBAS_HUMAN	E	366	ENSP00000413201:D366E;ENSP00000281513:D366E	ENSP00000281513:D366E	D	-	3	2	NBAS	15535850	0.542000	0.26426	0.998000	0.56505	0.999000	0.98932	-0.472000	0.06623	0.029000	0.15352	0.655000	0.94253	GAC	NBAS	-	superfamily_Quino_amine_DH_bsu	ENSG00000151779		0.308	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0.00	31	0	G	NM_015909		15618399	-1			no_errors	ENST00000281513	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.978	T
NCAPD2	9918	genome.wustl.edu	37	12	6624087	6624087	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:6624087G>T	ENST00000315579.5	+	9	1786		c.e9+1		NCAPD2_ENST00000545962.1_Splice_Site	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGATGGAGAAGTAGGTGGTCC	0.458																																																	0													112.0	93.0	100.0					12																	6624087		2203	4300	6503	SO:0001630	splice_region_variant	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.987+1G>T	12.37:g.6624087G>T			D3DUR4|Q8N6U3	Splice_Site	SNP	-	e8+1	ENST00000315579.5	37	c.987+1	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775787	0.70107	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPD2	6494348	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	8.754000	0.91642	2.652000	0.90054	0.655000	0.94253	.	NCAPD2	-	-	ENSG00000010292		0.458	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0.00	25	0	G	NM_014865	Intron	6624087	+1			no_errors	ENST00000315579	ensembl	human	known	74_37	splice_site	5.56	34	2	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152392295	152392295	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:152392295T>G	ENST00000172853.10	-	114	16266	c.16119A>C	c.(16117-16119)gaA>gaC	p.E5373D	NEB_ENST00000397345.3_Missense_Mutation_p.E7074D|NEB_ENST00000604864.1_Missense_Mutation_p.E7074D|NEB_ENST00000409198.1_Missense_Mutation_p.E5373D|NEB_ENST00000603639.1_Missense_Mutation_p.E7074D|NEB_ENST00000427231.2_Missense_Mutation_p.E7074D			P20929	NEBU_HUMAN	nebulin	5373					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCAAATACTTCTTTATACT	0.328																																																	0													71.0	67.0	68.0					2																	152392295		1831	4091	5922	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16119A>C	2.37:g.152392295T>G	ENSP00000172853:p.Glu5373Asp		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E7074D	ENST00000172853.10	37	c.21222		2	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826679	0.71143	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	6.17	-0.511	0.11970	.	0.097576	0.64402	D	0.000002	T	0.59851	0.2224	L	0.49455	1.56	0.80722	D	1	D;P	0.61697	0.99;0.943	D;D	0.69479	0.93;0.964	T	0.54977	-0.8212	10	0.27082	T	0.32	.	12.349	0.55136	0.0:0.5177:0.0:0.4823	.	5373;1804	P20929;Q14215	NEBU_HUMAN;.	D	5373;7074;7074;1422;1804;5373;162	ENSP00000386259:E5373D;ENSP00000380505:E7074D;ENSP00000416578:E7074D;ENSP00000410961:E1804D;ENSP00000172853:E5373D;ENSP00000405167:E162D	ENSP00000172853:E5373D	E	-	3	2	NEB	152100541	0.552000	0.26505	0.997000	0.53966	0.985000	0.73830	0.009000	0.13219	-0.002000	0.14469	-0.242000	0.12053	GAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.328	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0.00	30	0	T	NM_004543		152392295	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.979	G
NFATC3	4775	genome.wustl.edu	37	16	68224878	68224878	+	Missense_Mutation	SNP	G	G	A	rs374889805		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:68224878G>A	ENST00000346183.3	+	9	2330	c.2306G>A	c.(2305-2307)tGt>tAt	p.C769Y	NFATC3_ENST00000349223.5_Missense_Mutation_p.C769Y|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000575270.1_Missense_Mutation_p.C769Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.C769Y	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	769					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAGTTGCAGTGTAGAGATGAG	0.453																																																	0								G	TYR/CYS,TYR/CYS,TYR/CYS	0,4396		0,0,2198	175.0	150.0	158.0		2306,2306,2306	5.6	1.0	16		158	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	NFATC3	NM_004555.3,NM_173163.2,NM_173165.2	194,194,194	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	769/1069,769/1066,769/1076	68224878	2,12994	2198	4300	6498	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2306G>A	16.37:g.68224878G>A	ENSP00000300659:p.Cys769Tyr		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.C769Y	ENST00000346183.3	37	c.2306	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762103	0.49468	0.0	2.33E-4	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08193	3.12;3.13;3.12	5.55	5.55	0.83447	.	0.120187	0.64402	D	0.000008	T	0.09158	0.0226	L	0.29908	0.895	0.45634	D	0.998563	P;D;P;P	0.56287	0.947;0.975;0.947;0.947	B;P;B;B	0.46543	0.272;0.52;0.355;0.355	T	0.07654	-1.0761	10	0.02654	T	1	-1.6919	19.5071	0.95124	0.0:0.0:1.0:0.0	.	769;769;769;769	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Y	769;769;769;290	ENSP00000264008:C769Y;ENSP00000300659:C769Y;ENSP00000331324:C769Y	ENSP00000331324:C769Y	C	+	2	0	NFATC3	66782379	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.597000	0.74118	2.617000	0.88574	0.557000	0.71058	TGT	NFATC3	-	NULL	ENSG00000072736		0.453	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2		0.00	27	0	G	NM_004555		68224878	+1			no_errors	ENST00000346183	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
NPAP1	23742	genome.wustl.edu	37	15	24923216	24923216	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:24923216A>G	ENST00000329468.2	+	1	2676	c.2202A>G	c.(2200-2202)caA>caG	p.Q734Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	734					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGAACACACAACCCAGCGGCA	0.542																																																	0													107.0	108.0	108.0					15																	24923216		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2202A>G	15.37:g.24923216A>G				Silent	SNP	NULL	p.Q734	ENST00000329468.2	37	c.2202	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0.00	24	0	A	NM_018958		24923216	+1			no_errors	ENST00000329468	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.000	G
NPAS2	4862	genome.wustl.edu	37	2	101549428	101549428	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:101549428C>T	ENST00000335681.5	+	4	523	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.L145F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	80					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTTCATTCCTCAGTAATGA	0.393																																																	0													96.0	86.0	90.0					2																	101549428		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.238C>T	2.37:g.101549428C>T	ENSP00000338283:p.Leu80Phe		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.L145F	ENST00000335681.5	37	c.433	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.002252|4.002252	0.74932|0.74932	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740|ENST00000448812	T;T|.	0.11277|.	2.81;2.79|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Helix-loop-helix DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81903|0.81903	0.4921|0.4921	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.63877|.	0.919;0.831|.	T|T	0.81750|0.81750	-0.0790|-0.0790	10|5	0.59425|.	D|.	0.04|.	.|.	19.7612|19.7612	0.96319|0.96319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	145;80|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	F|L	80;145;66|69	ENSP00000338283:L80F;ENSP00000438428:L145F|.	ENSP00000338283:L80F|.	L|P	+|+	1|2	0|0	NPAS2|NPAS2	100915860|100915860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.376000|7.376000	0.79658|0.79658	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CTC|CCT	NPAS2	-	superfamily_bHLH_dom,prints_Nuc_translocat	ENSG00000170485		0.393	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3		0.00	27	0	C			101549428	+1			no_errors	ENST00000542504	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T
NSUN3	63899	genome.wustl.edu	37	3	93813066	93813066	+	Missense_Mutation	SNP	G	G	C	rs147353366		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:93813066G>C	ENST00000314622.4	+	4	760	c.549G>C	c.(547-549)ttG>ttC	p.L183F		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	183							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CACAGCCTTTGATAAATGTAA	0.358																																																	0													77.0	74.0	75.0					3																	93813066		2203	4300	6503	SO:0001583	missense	0			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.549G>C	3.37:g.93813066G>C	ENSP00000318986:p.Leu183Phe		Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L183F	ENST00000314622.4	37	c.549	CCDS2927.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523007	0.64747	.	.	ENSG00000178694	ENST00000314622	T	0.13196	2.61	5.98	5.98	0.97165	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.392082	0.25490	N	0.030319	T	0.19644	0.0472	L	0.49571	1.57	0.09310	N	0.999998	P	0.47841	0.901	P	0.53062	0.717	T	0.13656	-1.0501	10	0.09843	T	0.71	-4.9093	10.3233	0.43780	0.0686:0.0:0.7968:0.1346	.	183	Q9H649	NSUN3_HUMAN	F	183	ENSP00000318986:L183F	ENSP00000318986:L183F	L	+	3	2	NSUN3	95295756	0.758000	0.28405	0.998000	0.56505	0.984000	0.73092	1.034000	0.30204	2.835000	0.97688	0.650000	0.86243	TTG	NSUN3	-	pfam_Fmu/NOL1/Nop2p	ENSG00000178694		0.358	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1		0.00	47	0	G	NM_022072		93813066	+1			no_errors	ENST00000314622	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.014	C
NUPR1	26471	genome.wustl.edu	37	16	28549402	28549402	+	Missense_Mutation	SNP	C	C	T	rs371618392		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:28549402C>T	ENST00000324873.6	-	2	453	c.187G>A	c.(187-189)Gag>Aag	p.E63K	NUPR1_ENST00000395641.2_Missense_Mutation_p.E81K	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	63					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E63K(1)		breast(1)|large_intestine(1)|lung(1)	3						AGTTTCCTCTCGTGCCCGCCA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)						C	LYS/GLU,LYS/GLU	0,4394		0,0,2197	124.0	141.0	135.0		241,187	5.5	1.0	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NUPR1	NM_001042483.1,NM_012385.2	56,56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/101,63/83	28549402	1,12993	2197	4300	6497	SO:0001583	missense	0			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.187G>A	16.37:g.28549402C>T	ENSP00000315559:p.Glu63Lys		B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	pfam_Nuclear_phosphoprot_p8_DNA-bd	p.E63K	ENST00000324873.6	37	c.187	CCDS10634.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.936202	0.97122	0.0	1.16E-4	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.79323	0.4426	.	.	.	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.80876	-0.1186	8	0.66056	D	0.02	-24.4866	15.2482	0.73523	0.0:1.0:0.0:0.0	.	63	O60356	NUPR1_HUMAN	K	63;81	.	ENSP00000315559:E63K	E	-	1	0	NUPR1	28456903	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	4.683000	0.61679	2.748000	0.94277	0.655000	0.94253	GAG	NUPR1	-	pfam_Nuclear_phosphoprot_p8_DNA-bd	ENSG00000176046		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPR1	HGNC	protein_coding	OTTHUMT00000254692.2		0.00	27	0	C	NM_012385		28549402	-1			no_errors	ENST00000324873	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	T
NYX	60506	genome.wustl.edu	37	X	41332760	41332760	+	Silent	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:41332760G>T	ENST00000342595.2	+	2	510	c.54G>T	c.(52-54)ctG>ctT	p.L18L	NYX_ENST00000378220.1_Silent_p.L18L|NYX_ENST00000486842.1_3'UTR	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	18					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TCCTCGGCCTGCCCAGCGCCT	0.716																																																	0													1.0	1.0	1.0					X																	41332760		724	1550	2274	SO:0001819	synonymous_variant	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.54G>T	X.37:g.41332760G>T			D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L18	ENST00000342595.2	37	c.54	CCDS14256.1	X																																																																																			NYX	-	NULL	ENSG00000188937		0.716	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1		0.00	20	0	G	NM_022567		41332760	+1			no_errors	ENST00000342595	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.990	T
OPTC	26254	genome.wustl.edu	37	1	203472138	203472138	+	Splice_Site	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:203472138G>A	ENST00000367222.2	+	6	944		c.e6+1			NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin						negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACACCTGCAGGTAAGGAGCAC	0.562																																																	0													45.0	46.0	46.0					1																	203472138		2203	4299	6502	SO:0001630	splice_region_variant	0			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.828+1G>A	1.37:g.203472138G>A			Q5T2G4	Splice_Site	SNP	-	e5+1	ENST00000367222.2	37	c.828+1	CCDS1439.1	1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017538	0.54576	.	.	ENSG00000188770	ENST00000367222	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2504	0.60048	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPTC	201738761	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.459000	0.73513	2.219000	0.72066	0.514000	0.50259	.	OPTC	-	-	ENSG00000188770		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPTC	HGNC	protein_coding	OTTHUMT00000087964.1		0.00	26	0	G	NM_014359	Intron	203472138	+1			no_errors	ENST00000367222	ensembl	human	known	74_37	splice_site	21.74	18	5	SNP	1.000	A
OR10A5	144124	genome.wustl.edu	37	11	6867411	6867411	+	Silent	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:6867411T>C	ENST00000299454.4	+	1	529	c.498T>C	c.(496-498)agT>agC	p.S166S	OR10A5_ENST00000379831.2_Silent_p.S170S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	166					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTCTTCAGTTTTCCATTCT	0.532																																					Pancreas(44;21 1072 25662 28041 45559)												0													116.0	112.0	113.0					11																	6867411		2201	4293	6494	SO:0001819	synonymous_variant	0			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.498T>C	11.37:g.6867411T>C			O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S170	ENST00000299454.4	37	c.510	CCDS7773.1	11																																																																																			OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000166363		0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1		0.00	40	0	T	NM_178168		6867411	+1			no_errors	ENST00000379831	ensembl	human	known	74_37	silent	28.21	28	11	SNP	0.940	C
OR2F1	26211	genome.wustl.edu	37	7	143657735	143657735	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:143657735C>T	ENST00000392899.1	+	1	709	c.672C>T	c.(670-672)acC>acT	p.T224T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	224					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCATCTCCACCATCCTAAAGA	0.488																																																	0													191.0	172.0	178.0					7																	143657735		2203	4300	6503	SO:0001819	synonymous_variant	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.672C>T	7.37:g.143657735C>T			A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T224	ENST00000392899.1	37	c.672	CCDS5887.1	7																																																																																			OR2F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000213215		0.488	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1		0.00	53	0	C			143657735	+1			no_errors	ENST00000392899	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.005	T
OR2A1	346528	genome.wustl.edu	37	7	144015576	144015576	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:144015576A>G	ENST00000408951.1	+	1	359	c.359A>G	c.(358-360)gAt>gGt	p.D120G	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ATGTCCTACGATCGTTACGTG	0.567																																																	0													52.0	55.0	54.0					7																	144015576		2168	4278	6446	SO:0001583	missense	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.359A>G	7.37:g.144015576A>G	ENSP00000386175:p.Asp120Gly		Q6IF44|Q96R46	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D120G	ENST00000408951.1	37	c.359	CCDS43673.1	7	.	.	.	.	.	.	.	.	.	.	a	13.02	2.113865	0.37339	.	.	ENSG00000221970	ENST00000408951	T	0.55588	0.51	2.96	2.96	0.34315	.	0.000000	0.33327	U	0.005035	T	0.77725	0.4173	H	0.96943	3.91	0.41345	D	0.987325	.	.	.	.	.	.	T	0.82472	-0.0440	8	0.87932	D	0	.	9.2952	0.37811	1.0:0.0:0.0:0.0	.	.	.	.	G	120	ENSP00000386175:D120G	ENSP00000386175:D120G	D	+	2	0	OR2A1	143646509	1.000000	0.71417	0.248000	0.24265	0.085000	0.17905	8.782000	0.91809	1.338000	0.45544	0.402000	0.26972	GAT	OR2A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221970		0.567	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1		0.00	97	0	A			144015576	+1			no_errors	ENST00000408951	ensembl	human	known	74_37	missense	9.62	94	10	SNP	0.997	G
OR2T33	391195	genome.wustl.edu	37	1	248436861	248436861	+	Missense_Mutation	SNP	C	C	T	rs139302289	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:248436861C>T	ENST00000318021.2	-	1	277	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTACTTCCGGTCAAGTAG	0.567													c|||	2	0.000399361	0.0015	0.0	5008	,	,		17555	0.0		0.0	False		,,,				2504	0.0																0								C	ARG/GLY	5,4401		0,5,2198	87.0	79.0	82.0		256	0.2	0.0	1	dbSNP_134	82	0,8594		0,0,4297	no	missense	OR2T33	NM_001004695.1	125	0,5,6495	TT,TC,CC		0.0,0.1135,0.0385	possibly-damaging	86/321	248436861	5,12995	2203	4297	6500	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.256G>A	1.37:g.248436861C>T	ENSP00000324687:p.Gly86Arg		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G86R	ENST00000318021.2	37	c.256	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	10.87	1.471518	0.26423	0.001135	0.0	ENSG00000177212	ENST00000318021	T	0.02944	4.1	2.7	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002929	T	0.07503	0.0189	M	0.66939	2.045	0.09310	N	1	D	0.63046	0.992	P	0.56398	0.797	T	0.08186	-1.0734	10	0.66056	D	0.02	.	7.9295	0.29893	0.1533:0.5768:0.2699:0.0	.	86	Q8NG76	O2T33_HUMAN	R	86	ENSP00000324687:G86R	ENSP00000324687:G86R	G	-	1	0	OR2T33	246503484	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.337000	0.07852	0.366000	0.24427	0.494000	0.49563	GGA	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1		0.00	134	0	C	NM_001004695		248436861	-1			no_errors	ENST00000318021	ensembl	human	known	74_37	missense	44.00	112	88	SNP	0.000	T
OR4C6	219432	genome.wustl.edu	37	11	55432790	55432790	+	Missense_Mutation	SNP	A	A	C	rs200014503		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:55432790A>C	ENST00000314259.3	+	1	177	c.148A>C	c.(148-150)Agt>Cgt	p.S50R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATTATCACAAGTCAGAGTCT	0.408																																																	0													280.0	250.0	260.0					11																	55432790		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.148A>C	11.37:g.55432790A>C	ENSP00000324769:p.Ser50Arg		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S50R	ENST00000314259.3	37	c.148	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406353	0.42715	.	.	ENSG00000181903	ENST00000314259	T	0.01099	5.34	3.83	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.153264	0.30593	N	0.009294	T	0.06371	0.0164	M	0.91717	3.235	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15037	-1.0451	10	0.87932	D	0	.	2.8612	0.05588	0.508:0.0:0.1157:0.3763	.	50	Q8NH72	OR4C6_HUMAN	R	50	ENSP00000324769:S50R	ENSP00000324769:S50R	S	+	1	0	OR4C6	55189366	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-0.874000	0.04210	1.387000	0.46486	0.444000	0.29173	AGT	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181903		0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0.00	28	0	A	NM_001004704		55432790	+1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	C
OR5R1	219479	genome.wustl.edu	37	11	56185440	56185440	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:56185440T>A	ENST00000312253.1	-	1	268	c.269A>T	c.(268-270)aAc>aTc	p.N90I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAATGGTGTTGCGTTCCAC	0.453																																																	0													123.0	110.0	115.0					11																	56185440		2201	4296	6497	SO:0001583	missense	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.269A>T	11.37:g.56185440T>A	ENSP00000308595:p.Asn90Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N90I	ENST00000312253.1	37	c.269	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126226	0.37533	.	.	ENSG00000174942	ENST00000312253	T	0.01998	4.51	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.220262	0.22262	U	0.062383	T	0.12178	0.0296	M	0.86028	2.79	0.09310	N	1	D	0.53619	0.961	P	0.62014	0.897	T	0.07578	-1.0765	10	0.87932	D	0	-12.2585	11.1333	0.48360	0.0:0.0:0.1544:0.8456	.	90	Q8NH85	OR5R1_HUMAN	I	90	ENSP00000308595:N90I	ENSP00000308595:N90I	N	-	2	0	OR5R1	55942016	0.001000	0.12720	0.104000	0.21259	0.078000	0.17371	0.775000	0.26689	2.211000	0.71520	0.391000	0.25812	AAC	OR5R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174942		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1		0.00	16	0	T	NM_001004744		56185440	-1			no_errors	ENST00000312253	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.063	A
OR8B2	26595	genome.wustl.edu	37	11	124252988	124252988	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:124252988G>C	ENST00000375013.2	-	1	270	c.252C>G	c.(250-252)aaC>aaG	p.N84K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTGACACAAAGTTCATTAGCA	0.368																																																	0													138.0	133.0	134.0					11																	124252988		2201	4299	6500	SO:0001583	missense	0			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.252C>G	11.37:g.124252988G>C	ENSP00000364152:p.Asn84Lys		Q8NGH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N84K	ENST00000375013.2	37	c.252	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	g	5.691	0.312134	0.10789	.	.	ENSG00000204293	ENST00000375013	T	0.00466	7.23	4.2	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.277802	0.31601	N	0.007363	T	0.00695	0.0023	M	0.93150	3.385	0.09310	N	1	B	0.27853	0.191	B	0.26770	0.073	T	0.37911	-0.9685	10	0.66056	D	0.02	.	5.2584	0.15559	0.3755:0.0:0.6245:0.0	.	84	Q96RD0	OR8B2_HUMAN	K	84	ENSP00000364152:N84K	ENSP00000364152:N84K	N	-	3	2	OR8B2	123758198	0.000000	0.05858	0.137000	0.22149	0.099000	0.18886	-1.218000	0.02976	1.103000	0.41568	0.400000	0.26472	AAC	OR8B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204293		0.368	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1		0.00	49	0	G	NM_001005468		124252988	-1			no_errors	ENST00000375013	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.042	C
PARVB	29780	genome.wustl.edu	37	22	44514957	44514957	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:44514957A>G	ENST00000338758.7	+	4	376	c.313A>G	c.(313-315)Agg>Ggg	p.R105G	PARVB_ENST00000404989.1_Missense_Mutation_p.R68G|PARVB_ENST00000406477.3_Missense_Mutation_p.R138G	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	105	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGTGGAGGAGAGGATCATTGT	0.587																																																	0													203.0	169.0	180.0					22																	44514957		2203	4300	6503	SO:0001583	missense	0			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.313A>G	22.37:g.44514957A>G	ENSP00000342492:p.Arg105Gly		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R138G	ENST00000338758.7	37	c.412	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053535	0.55218	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	4.92	-3.15	0.05233	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	M	0.86740	2.835	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.996;0.999;0.997	T	0.77718	-0.2483	10	0.87932	D	0	.	16.0854	0.81042	0.2869:0.7131:0.0:0.0	.	105;68;105;138	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	G	138;105;105;103;68	ENSP00000384515:R138G;ENSP00000342492:R105G;ENSP00000385331:R105G;ENSP00000393758:R103G;ENSP00000384353:R68G	ENSP00000342492:R105G	R	+	1	2	PARVB	42846290	0.973000	0.33851	0.214000	0.23707	0.683000	0.39861	1.727000	0.38095	-1.093000	0.03058	-0.313000	0.08912	AGG	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000188677		0.587	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2		0.00	25	0	A	NM_001003828		44514957	+1			no_errors	ENST00000406477	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.325	G
PCDH19	57526	genome.wustl.edu	37	X	99551696	99551696	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:99551696C>A	ENST00000373034.4	-	6	4701	c.3026G>T	c.(3025-3027)gGc>gTc	p.G1009V	PCDH19_ENST00000420881.2_Missense_Mutation_p.G961V|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Missense_Mutation_p.G962V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1009					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTGGTGGGGCCGCAGTCGTC	0.567																																																	0													79.0	79.0	79.0					X																	99551696		2123	4217	6340	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3026G>T	X.37:g.99551696C>A	ENSP00000362125:p.Gly1009Val		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1009V	ENST00000373034.4	37	c.3026	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.59;0.58;0.59	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	L	0.38175	1.15	0.80722	D	1	B;D;D	0.62365	0.335;0.991;0.984	B;P;P	0.54026	0.058;0.74;0.554	T	0.57353	-0.7826	10	0.48119	T	0.1	.	15.833	0.78773	0.0:0.8676:0.1324:0.0	.	1009;962;961	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	V	961;1009;962	ENSP00000400327:G961V;ENSP00000362125:G1009V;ENSP00000255531:G962V	ENSP00000255531:G962V	G	-	2	0	PCDH19	99438352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.757000	0.47557	1.164000	0.42652	0.600000	0.82982	GGC	PCDH19	-	NULL	ENSG00000165194		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2		0.00	18	0	C	NM_020766		99551696	-1			no_errors	ENST00000373034	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	A
PASD1	139135	genome.wustl.edu	37	X	150840247	150840247	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:150840247A>C	ENST00000370357.4	+	13	1678	c.1433A>C	c.(1432-1434)aAc>aCc	p.N478T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	478						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGCCTTCAACCAGGTATGG	0.453																																																	0													79.0	73.0	75.0					X																	150840247		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1433A>C	X.37:g.150840247A>C	ENSP00000359382:p.Asn478Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.N478T	ENST00000370357.4	37	c.1433	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	4.395	0.072919	0.08436	.	.	ENSG00000166049	ENST00000370357	T	0.16897	2.31	3.45	-6.91	0.01649	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.33803	-0.9854	9	0.56958	D	0.05	-6.1647	0.2864	0.00252	0.3631:0.1438:0.2186:0.2746	.	478	Q8IV76	PASD1_HUMAN	T	478	ENSP00000359382:N478T	ENSP00000359382:N478T	N	+	2	0	PASD1	150590903	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.675000	0.01947	-2.217000	0.00731	-1.848000	0.00571	AAC	PASD1	-	NULL	ENSG00000166049		0.453	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2		0.00	17	0	A	NM_173493		150840247	+1			no_errors	ENST00000370357	ensembl	human	known	74_37	missense	50.00	17	17	SNP	0.000	C
PCK2	5106	genome.wustl.edu	37	14	24569441	24569441	+	Intron	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:24569441G>C	ENST00000216780.4	+	7	1502				PCK2_ENST00000558096.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.G418A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGTGGGGAAGGTGTGGCACAG	0.567																																																	0													107.0	73.0	84.0					14																	24569441		2203	4300	6503	SO:0001627	intron_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+19G>C	14.37:g.24569441G>C			O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N	p.G418A	ENST00000216780.4	37	c.1253	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425587	0.25639	.	.	ENSG00000100889	ENST00000396973	T	0.05786	3.39	4.2	-3.94	0.04130	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47249	-0.9132	7	.	.	.	.	4.1381	0.10181	0.1298:0.1031:0.5534:0.2136	.	418	Q16822-2	.	A	418	ENSP00000380171:G418A	.	G	+	2	0	PCK2	23639281	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.011000	0.03652	-0.196000	0.10366	-0.266000	0.10368	GGT	PCK2	-	NULL	ENSG00000100889		0.567	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3		0.00	29	0	G	NM_001018073		24569441	+1			no_errors	ENST00000396973	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	C
PCLO	27445	genome.wustl.edu	37	7	82532030	82532030	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:82532030G>T	ENST00000333891.9	-	9	13802	c.13465C>A	c.(13465-13467)Cac>Aac	p.H4489N	PCLO_ENST00000423517.2_Missense_Mutation_p.H4489N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGATGTAGTGCATAGTTTTC	0.303																																																	0													189.0	171.0	176.0					7																	82532030		1836	4089	5925	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13465C>A	7.37:g.82532030G>T	ENSP00000334319:p.His4489Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.H4489N	ENST00000333891.9	37	c.13465	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405392	0.25378	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.39	5.55	5.55	0.83447	.	.	.	.	.	T	0.28830	0.0715	L	0.50333	1.59	0.80722	D	1	B;B	0.34015	0.435;0.435	B;B	0.43536	0.423;0.423	T	0.02805	-1.1108	9	0.87932	D	0	.	19.512	0.95146	0.0:0.0:1.0:0.0	.	4489;4489	Q9Y6V0-5;Q9Y6V0-6	.;.	N	4489	ENSP00000334319:H4489N;ENSP00000388393:H4489N	ENSP00000334319:H4489N	H	-	1	0	PCLO	82369966	1.000000	0.71417	0.958000	0.39756	0.312000	0.27988	6.119000	0.71590	2.624000	0.88883	0.467000	0.42956	CAC	PCLO	-	superfamily_PDZ	ENSG00000186472		0.303	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0.00	80	0	G	NM_014510		82532030	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.996	T
PDE1B	5153	genome.wustl.edu	37	12	54970422	54970422	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:54970422C>A	ENST00000243052.3	+	14	1880	c.1444C>A	c.(1444-1446)Cgt>Agt	p.R482S	PDE1B_ENST00000538346.1_Missense_Mutation_p.R441S|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R462S|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	482	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGTCAGCTTTCGTTCCACCTG	0.562																																																	0													75.0	62.0	66.0					12																	54970422		2203	4300	6503	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1444C>A	12.37:g.54970422C>A	ENSP00000243052:p.Arg482Ser		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R482S	ENST00000243052.3	37	c.1444	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216340	0.58452	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69806	-0.43;-0.41;-0.41	4.86	4.86	0.63082	.	0.000000	0.45361	D	0.000373	T	0.66626	0.2808	N	0.24115	0.695	0.80722	D	1	D;P	0.56035	0.974;0.956	P;P	0.56823	0.807;0.714	T	0.67217	-0.5726	10	0.39692	T	0.17	.	15.8534	0.78952	0.0:1.0:0.0:0.0	.	462;482	Q01064-2;Q01064	.;PDE1B_HUMAN	S	482;441;462	ENSP00000243052:R482S;ENSP00000442559:R441S;ENSP00000448519:R462S	ENSP00000243052:R482S	R	+	1	0	PDE1B	53256689	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	6.755000	0.74914	2.403000	0.81681	0.561000	0.74099	CGT	PDE1B	-	NULL	ENSG00000123360		0.562	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1		0.00	46	0	C			54970422	+1			no_errors	ENST00000243052	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	31983574	31983574	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:31983574T>G	ENST00000438447.1	+	3	1178	c.790T>G	c.(790-792)Ttt>Gtt	p.F264V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F264V			O15018	PDZD2_HUMAN	PDZ domain containing 2	264					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGCCATGTCTTTCAGCTAGA	0.552																																																	0													65.0	67.0	67.0					5																	31983574		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.790T>G	5.37:g.31983574T>G	ENSP00000402033:p.Phe264Val		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F264V	ENST00000438447.1	37	c.790	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	T	9.161	1.018660	0.19355	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05786	3.39;3.39	4.19	3.02	0.34903	.	0.613450	0.14700	N	0.303622	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B;B	0.26318	0.051;0.146	B;B	0.24974	0.016;0.057	T	0.45145	-0.9281	10	0.19147	T	0.46	.	6.5634	0.22499	0.0:0.1074:0.0:0.8926	.	90;264	B4E3P2;O15018	.;PDZD2_HUMAN	V	264	ENSP00000402033:F264V;ENSP00000282493:F264V	ENSP00000282493:F264V	F	+	1	0	PDZD2	32019331	0.960000	0.32886	0.020000	0.16555	0.312000	0.27988	-0.304000	0.08199	0.940000	0.37473	0.528000	0.53228	TTT	PDZD2	-	NULL	ENSG00000133401		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0.00	28	0	T			31983574	+1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.052	G
PFKM	5213	genome.wustl.edu	37	12	48539352	48539352	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:48539352G>T	ENST00000312352.7	+	23	2243	c.2204G>T	c.(2203-2205)cGa>cTa	p.R735L	PFKM_ENST00000547587.1_Missense_Mutation_p.R735L|PFKM_ENST00000551804.1_Missense_Mutation_p.R704L|PFKM_ENST00000340802.6_Missense_Mutation_p.R806L|PFKM_ENST00000395233.2_Missense_Mutation_p.R704L|PFKM_ENST00000359794.5_Missense_Mutation_p.R735L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	735	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTAGGCATCGAATCCCCAAG	0.453																																																	0													112.0	84.0	94.0					12																	48539352		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2204G>T	12.37:g.48539352G>T	ENSP00000309438:p.Arg735Leu		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R735L	ENST00000312352.7	37	c.2204	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960331	0.92791	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.05	5.05	0.67936	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79784	0.993;0.97;0.919	D	0.92594	0.6085	10	0.87932	D	0	-10.9633	18.5901	0.91208	0.0:0.0:1.0:0.0	.	704;735;806	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	L	806;735;704;704;735;735	ENSP00000345771:R806L;ENSP00000352842:R735L;ENSP00000378656:R704L;ENSP00000448177:R704L;ENSP00000449426:R735L;ENSP00000309438:R735L	ENSP00000309438:R735L	R	+	2	0	PFKM	46825619	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.595000	0.98260	2.793000	0.96121	0.655000	0.94253	CGA	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.453	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1		0.00	14	0	G	NM_000289		48539352	+1			no_errors	ENST00000312352	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936096	178936096	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:178936096G>C	ENST00000263967.3	+	10	1795	c.1638G>C	c.(1636-1638)caG>caC	p.Q546H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546H(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCACTGAGCAGGAGAAAGATT	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	4	Substitution - Missense(4)	endometrium(2)|cervix(1)|large_intestine(1)											62.0	62.0	62.0					3																	178936096		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1638G>C	3.37:g.178936096G>C	ENSP00000263967:p.Gln546His		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546H	ENST00000263967.3	37	c.1638	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721757	0.30503	.	.	ENSG00000121879	ENST00000263967	T	0.63096	-0.02	5.78	3.27	0.37495	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.62937	-0.6748	10	0.36615	T	0.2	-14.2064	10.0913	0.42449	0.8629:0.0:0.1371:0.0	.	546	P42336	PK3CA_HUMAN	H	546	ENSP00000263967:Q546H	ENSP00000263967:Q546H	Q	+	3	2	PIK3CA	180418790	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.950000	0.49081	0.451000	0.26802	-0.670000	0.03821	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0.00	75	0	G			178936096	+1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	C
PKHD1L1	93035	genome.wustl.edu	37	8	110465006	110465006	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:110465006A>C	ENST00000378402.5	+	43	6671	c.6567A>C	c.(6565-6567)aaA>aaC	p.K2189N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2189	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGGGGGAAAATCTCCCCCAG	0.388										HNSCC(38;0.096)																																							0													44.0	42.0	42.0					8																	110465006		1813	4076	5889	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6567A>C	8.37:g.110465006A>C	ENSP00000367655:p.Lys2189Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.K2189N	ENST00000378402.5	37	c.6567	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	5.941	0.357599	0.11239	.	.	ENSG00000205038	ENST00000378402	D	0.88818	-2.43	5.83	-3.25	0.05079	G8 domain (2);	1.007710	0.07968	N	0.983501	T	0.73369	0.3578	N	0.16903	0.455	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.58228	-0.7673	10	0.13108	T	0.6	.	2.5505	0.04748	0.215:0.2685:0.3856:0.1309	.	2189	Q86WI1	PKHL1_HUMAN	N	2189	ENSP00000367655:K2189N	ENSP00000367655:K2189N	K	+	3	2	PKHD1L1	110534182	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-1.107000	0.03316	-0.443000	0.07180	0.477000	0.44152	AAA	PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0.00	88	0	A	NM_177531		110465006	+1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.85	74	15	SNP	0.000	C
C10orf55	414236	genome.wustl.edu	37	10	75673062	75673062	+	Intron	SNP	G	G	A	rs371297216		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:75673062G>A	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Missense_Mutation_p.R128Q|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.R111Q|PLAU_ENST00000372762.4_Missense_Mutation_p.R92Q	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CCAGACAACCGGAGGCGACCC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19385	0.0		0.001	False		,,,				2504	0.0																0								G	,GLN/ARG,GLN/ARG	0,4406		0,0,2203	108.0	110.0	110.0		,332,383	1.6	0.2	10		110	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	PLAU,C10orf55	NM_001001791.2,NM_001145031.1,NM_002658.3	,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,benign,benign	,111/415,128/432	75673062	2,13004	2203	4300	6503	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-229C>T	10.37:g.75673062G>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R128Q	ENST00000409178.1	37	c.383	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123997	0.06795	0.0	2.33E-4	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.61980	0.06;0.06;0.06	5.31	1.63	0.23807	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.352135	0.31312	N	0.007870	T	0.27832	0.0685	N	0.02334	-0.595	0.09310	N	0.999998	B;B;B;B	0.22983	0.006;0.014;0.078;0.008	B;B;B;B	0.12837	0.004;0.007;0.008;0.007	T	0.10753	-1.0616	10	0.30078	T	0.28	.	3.5398	0.07807	0.646:0.0:0.1901:0.1638	.	111;92;128;128	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	Q	111;128;92;92	ENSP00000388474:R111Q;ENSP00000361850:R128Q;ENSP00000361848:R92Q	ENSP00000361847:R92Q	R	+	2	0	PLAU	75343068	0.000000	0.05858	0.212000	0.23672	0.136000	0.21042	0.542000	0.23222	0.332000	0.23536	-1.107000	0.02091	CGG	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122861		0.577	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1		0.00	31	0	G	NM_001001791		75673062	+1			no_errors	ENST00000372764	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.011	A
PLB1	151056	genome.wustl.edu	37	2	28804940	28804940	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:28804940C>T	ENST00000327757.5	+	24	1616	c.1572C>T	c.(1570-1572)caC>caT	p.H524H	PLB1_ENST00000329020.6_Silent_p.H212H|PLB1_ENST00000422425.2_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	524	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCAGGTCCACTATTCTCCCC	0.498																																																	0													106.0	92.0	97.0					2																	28804940		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1572C>T	2.37:g.28804940C>T			A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	pfam_Lipase_GDSL	p.H212	ENST00000327757.5	37	c.636	CCDS33168.1	2																																																																																			PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.498	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2		0.00	45	0	C			28804940	+1			no_errors	ENST00000329020	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.001	T
PLEKHH2	130271	genome.wustl.edu	37	2	43927611	43927611	+	Missense_Mutation	SNP	C	C	T	rs147485721		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:43927611C>T	ENST00000282406.4	+	8	1624	c.1514C>T	c.(1513-1515)aCg>aTg	p.T505M		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	505					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATATGGACACGAGTTGTGAT	0.413													c|||	1	0.000199681	0.0	0.0	5008	,	,		20841	0.001		0.0	False		,,,				2504	0.0																0								T	MET/THR	0,4406		0,0,2203	179.0	175.0	176.0		1514	3.5	0.8	2	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHH2	NM_172069.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	505/1494	43927611	1,13005	2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1514C>T	2.37:g.43927611C>T	ENSP00000282406:p.Thr505Met		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.T505M	ENST00000282406.4	37	c.1514	CCDS1812.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	8.931	0.963412	0.18583	0.0	1.16E-4	ENSG00000152527	ENST00000282406	T	0.73897	-0.79	5.57	3.54	0.40534	.	0.842078	0.10674	N	0.647158	T	0.55909	0.1950	N	0.16743	0.435	0.09310	N	1	B;D	0.58620	0.045;0.983	B;B	0.42882	0.02;0.401	T	0.38090	-0.9677	10	0.20046	T	0.44	-7.1909	6.4658	0.21981	0.0:0.678:0.0:0.322	.	505;505	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	M	505	ENSP00000282406:T505M	ENSP00000282406:T505M	T	+	2	0	PLEKHH2	43781115	0.819000	0.29175	0.790000	0.31976	0.845000	0.48019	1.523000	0.35932	1.367000	0.46095	-0.119000	0.15052	ACG	PLEKHH2	-	NULL	ENSG00000152527		0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0.00	36	0	C	NM_172069		43927611	+1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.174	T
PRB4	5545	genome.wustl.edu	37	12	11461446	11461446	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:11461446A>G	ENST00000535904.1	-	3	504	c.471T>C	c.(469-471)ccT>ccC	p.P157P	PRB4_ENST00000279575.1_Silent_p.P157P|PRB4_ENST00000445719.2_Intron			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	178	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCCTGGATGAGGTGGGGGAC	0.602										HNSCC(22;0.051)																																							0													196.0	214.0	208.0					12																	11461446		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.471T>C	12.37:g.11461446A>G			A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	NULL	p.P157	ENST00000535904.1	37	c.471	CCDS8641.1	12																																																																																			PRB4	-	NULL	ENSG00000230657		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1		0.00	112	0	A	NM_002723		11461446	-1			no_errors	ENST00000279575	ensembl	human	known	74_37	silent	39.36	57	37	SNP	0.000	G
PRG4	10216	genome.wustl.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G	rs558640103	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642													-|||	2	0.000399361	0.0008	0.0	5008	,	,		7951	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											99.0	99.0	99.0					1																	186276565		2203	4297	6500	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1714A>G	1.37:g.186276565A>G	ENSP00000399679:p.Thr572Ala		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.T572A	ENST00000445192.2	37	c.1714	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	a	6.012	0.370698	0.11409	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.54;3.44;3.54	3.96	1.21	0.21127	.	.	.	.	.	T	0.06096	0.0158	L	0.49126	1.545	0.09310	N	1	B;B;B;B	0.18013	0.025;0.025;0.015;0.025	B;B;B;B	0.19666	0.026;0.026;0.011;0.026	T	0.42292	-0.9460	8	.	.	.	.	3.8704	0.09035	0.6441:0.2029:0.1531:0.0	.	438;479;572;531	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	529;438;531;479;572	ENSP00000356456:T529A;ENSP00000356453:T531A;ENSP00000356455:T479A;ENSP00000399679:T572A	.	T	+	1	0	PRG4	184543188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	0.012000	0.14892	-0.559000	0.04183	ACC	PRG4	-	NULL	ENSG00000116690		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1		0.00	89	0	A	NM_005807		186276565	+1			no_errors	ENST00000445192	ensembl	human	known	74_37	missense	5.88	76	5	SNP	0.000	G
PRICKLE2	166336	genome.wustl.edu	37	3	64132935	64132935	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:64132935G>T	ENST00000295902.6	-	7	1816	c.1231C>A	c.(1231-1233)Cag>Aag	p.Q411K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q467K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	411					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCTGGGTCTGGTTCTGCTCC	0.612																																																	0													80.0	83.0	82.0					3																	64132935		2203	4300	6503	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1231C>A	3.37:g.64132935G>T	ENSP00000295902:p.Gln411Lys		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q411K	ENST00000295902.6	37	c.1231	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920284	0.17982	.	.	ENSG00000163637	ENST00000295902	T	0.58060	0.36	5.74	5.74	0.90152	.	0.081503	0.51477	D	0.000081	T	0.47284	0.1437	L	0.36672	1.1	0.45541	D	0.998496	B	0.20368	0.044	B	0.19148	0.024	T	0.27297	-1.0078	10	0.32370	T	0.25	-35.5961	19.9204	0.97084	0.0:0.0:1.0:0.0	.	411	Q7Z3G6	PRIC2_HUMAN	K	411	ENSP00000295902:Q411K	ENSP00000295902:Q411K	Q	-	1	0	PRICKLE2	64107975	0.996000	0.38824	1.000000	0.80357	0.626000	0.37791	4.098000	0.57748	2.721000	0.93114	0.491000	0.48974	CAG	PRICKLE2	-	NULL	ENSG00000163637		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1		0.00	53	0	G	NM_198859		64132935	-1			no_errors	ENST00000295902	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.996	T
PRKCB	5579	genome.wustl.edu	37	16	24196805	24196805	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:24196805G>T	ENST00000321728.7	+	15	1814	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	PRKCB_ENST00000303531.7_Missense_Mutation_p.D547Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGAGGATGAAGATGAACTCTT	0.527																																																	0													133.0	108.0	116.0					16																	24196805		2197	4300	6497	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1639G>T	16.37:g.24196805G>T	ENSP00000318315:p.Asp547Tyr		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D547Y	ENST00000321728.7	37	c.1639	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977007	0.92982	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.65364	-0.15;-0.15	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	N	0.17312	0.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74674	0.972;0.984	T	0.72534	-0.4264	10	0.87932	D	0	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	547;547	P05771-2;P05771	.;KPCB_HUMAN	Y	547	ENSP00000318315:D547Y;ENSP00000305355:D547Y	ENSP00000305355:D547Y	D	+	1	0	PRKCB	24104306	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	GAT	PRKCB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000166501		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2		0.00	16	0	G	NM_212535		24196805	+1			no_errors	ENST00000303531	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T
PRKD2	25865	genome.wustl.edu	37	19	47181788	47181788	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:47181788A>T	ENST00000291281.4	-	16	2428	c.2203T>A	c.(2203-2205)Tgg>Agg	p.W735R	PRKD2_ENST00000593492.1_5'UTR|PRKD2_ENST00000595515.1_Missense_Mutation_p.W735R|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.W578R|PRKD2_ENST00000601806.1_Missense_Mutation_p.W578R|PRKD2_ENST00000433867.1_Missense_Mutation_p.W735R			Q9BZL6	KPCD2_HUMAN	protein kinase D2	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCCACTGACCACATGTCCAGC	0.607																																																	0													170.0	123.0	139.0					19																	47181788		2203	4300	6503	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2203T>A	19.37:g.47181788A>T	ENSP00000291281:p.Trp735Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.W735R	ENST00000291281.4	37	c.2203	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651915	0.88056	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.90788	-2.73;-2.73	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000006	D	0.97241	0.9098	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98348	1.0542	10	0.87932	D	0	-24.0138	13.3949	0.60846	1.0:0.0:0.0:0.0	.	735;220;735	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	735	ENSP00000291281:W735R;ENSP00000393978:W735R	ENSP00000291281:W735R	W	-	1	0	PRKD2	51873628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.238000	0.95380	1.872000	0.54250	0.460000	0.39030	TGG	PRKD2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105287		0.607	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1		0.00	67	0	A	NM_016457		47181788	-1			no_errors	ENST00000291281	ensembl	human	known	74_37	missense	25.88	62	22	SNP	1.000	T
PRKCG	5582	genome.wustl.edu	37	19	54401237	54401237	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:54401237T>A	ENST00000263431.3	+	10	1246	c.964T>A	c.(964-966)Tct>Act	p.S322T	PRKCG_ENST00000542049.1_Missense_Mutation_p.S209T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S322T|PRKCG_ENST00000536044.1_Silent_p.P292P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	322					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	cccctcttcctctcccatccc	0.587																																																	0													88.0	89.0	89.0					19																	54401237		2203	4300	6503	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.964T>A	19.37:g.54401237T>A	ENSP00000263431:p.Ser322Thr		B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S322T	ENST00000263431.3	37	c.964	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854163	0.32791	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70516	-0.49;-0.49;-0.48	4.39	4.39	0.52855	.	.	.	.	.	T	0.68302	0.2986	L	0.29908	0.895	0.29182	N	0.876462	B;B;B	0.26041	0.14;0.004;0.133	P;B;B	0.45449	0.481;0.022;0.09	T	0.63580	-0.6605	9	0.22109	T	0.4	.	10.161	0.42851	0.0:0.0:0.0:1.0	.	209;322;322	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	T	322;322;209	ENSP00000443493:S322T;ENSP00000263431:S322T;ENSP00000438090:S209T	ENSP00000263431:S322T	S	+	1	0	PRKCG	59093049	0.001000	0.12720	0.959000	0.39883	0.967000	0.64934	0.641000	0.24720	1.975000	0.57531	0.397000	0.26171	TCT	PRKCG	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000126583		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3		0.00	71	0	T	NM_002739		54401237	+1			no_errors	ENST00000540413	ensembl	human	known	74_37	missense	6.93	92	7	SNP	1.000	A
PRKRIR	5612	genome.wustl.edu	37	11	76063648	76063648	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:76063648A>G	ENST00000260045.3	-	5	651	c.546T>C	c.(544-546)ccT>ccC	p.P182P	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	182					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTCCATCCAGAGGTATGTTTT	0.403																																																	0													34.0	31.0	32.0					11																	76063648		2200	4287	6487	SO:0001819	synonymous_variant	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.546T>C	11.37:g.76063648A>G			A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Silent	SNP	pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P182	ENST00000260045.3	37	c.546	CCDS8243.1	11																																																																																			PRKRIR	-	NULL	ENSG00000137492		0.403	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1		0.00	100	0	A	NM_004705		76063648	-1			no_errors	ENST00000260045	ensembl	human	known	74_37	silent	22.62	65	19	SNP	0.868	G
PRR14L	253143	genome.wustl.edu	37	22	32108594	32108594	+	Missense_Mutation	SNP	G	G	A	rs138862865		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:32108594G>A	ENST00000327423.6	-	4	5420	c.5231C>T	c.(5230-5232)cCg>cTg	p.P1744L	PRR14L_ENST00000397493.2_Missense_Mutation_p.P1744L|PRR14L_ENST00000434485.1_Missense_Mutation_p.P1744L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1744										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAGCCTTGCCGGAGCACAGTG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20694	0.0		0.0	False		,,,				2504	0.0																0													17.0	19.0	19.0					22																	32108594		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5231C>T	22.37:g.32108594G>A	ENSP00000331845:p.Pro1744Leu		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.P1744L	ENST00000327423.6	37	c.5231	CCDS13900.2	22	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	19.14	3.769712	0.69992	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.11169	2.81;2.85;2.8	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000015	T	0.22244	0.0536	M	0.61703	1.905	0.48975	D	0.999732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.00145	-1.1993	10	0.66056	D	0.02	-10.7701	12.6721	0.56872	0.0:0.0:0.8246:0.1754	.	1744;1744;1744	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1744	ENSP00000380630:P1744L;ENSP00000331845:P1744L;ENSP00000388314:P1744L	ENSP00000331845:P1744L	P	-	2	0	PRR14L	30438594	0.990000	0.36364	0.847000	0.33407	0.997000	0.91878	2.627000	0.46469	2.738000	0.93877	0.655000	0.94253	CCG	PRR14L	-	NULL	ENSG00000183530		0.522	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2		0.00	19	0	G	NM_173566		32108594	-1			no_errors	ENST00000397493	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.927	A
PSG4	5672	genome.wustl.edu	37	19	43699178	43699178	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:43699178G>C	ENST00000405312.3	-	4	1194	c.957C>G	c.(955-957)atC>atG	p.I319M	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.I226M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	319	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCACTGCGGATGCCACCAT	0.488																																																	0													132.0	121.0	125.0					19																	43699178		2201	4293	6494	SO:0001583	missense	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.957C>G	19.37:g.43699178G>C	ENSP00000384770:p.Ile319Met		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I319M	ENST00000405312.3	37	c.957	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.526761	0.00959	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.12569	2.67;2.67	1.45	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10078	0.0247	L	0.47190	1.495	0.09310	N	1	B;B	0.14805	0.011;0.005	B;B	0.26310	0.068;0.043	T	0.37197	-0.9716	9	0.37606	T	0.19	.	0.4248	0.00461	0.3117:0.1949:0.2997:0.1937	.	226;319	E7EX79;Q00888	.;PSG4_HUMAN	M	319;226	ENSP00000384770:I319M;ENSP00000387864:I226M	ENSP00000384770:I319M	I	-	3	3	PSG4	48391018	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.525000	0.06214	-2.614000	0.00443	-2.241000	0.00287	ATC	PSG4	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000243137		0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1		0.00	349	0	G	NM_213633		43699178	-1			no_errors	ENST00000405312	ensembl	human	known	74_37	missense	20.00	272	68	SNP	0.000	C
PSG4	5672	genome.wustl.edu	37	19	43699189	43699189	+	Missense_Mutation	SNP	A	A	C	rs554597299		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:43699189A>C	ENST00000405312.3	-	4	1183	c.946T>G	c.(946-948)Tat>Gat	p.Y316D	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.Y223D	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	316	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATGCCACCATATCGGTCCCGT	0.488													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21769	0.0		0.0	False		,,,				2504	0.0																0													148.0	136.0	140.0					19																	43699189		2201	4293	6494	SO:0001583	missense	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.946T>G	19.37:g.43699189A>C	ENSP00000384770:p.Tyr316Asp		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y316D	ENST00000405312.3	37	c.946	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	a	1.365	-0.587787	0.03799	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.11712	2.75;2.75	1.45	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05777	0.0151	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.21151	0.033;0.021	T	0.40496	-0.9560	9	0.35671	T	0.21	.	2.4671	0.04555	0.4928:0.3075:0.0:0.1997	.	223;316	E7EX79;Q00888	.;PSG4_HUMAN	D	316;223	ENSP00000384770:Y316D;ENSP00000387864:Y223D	ENSP00000384770:Y316D	Y	-	1	0	PSG4	48391029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.890000	0.04140	-0.614000	0.05687	-0.904000	0.02843	TAT	PSG4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243137		0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1		0.00	360	0	A	NM_213633		43699189	-1			no_errors	ENST00000405312	ensembl	human	known	74_37	missense	20.56	286	74	SNP	0.000	C
PTPN13	5783	genome.wustl.edu	37	4	87610245	87610245	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:87610245C>T	ENST00000411767.2	+	5	511	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	PTPN13_ENST00000427191.2_Silent_p.L150L|PTPN13_ENST00000511467.1_Silent_p.L150L|PTPN13_ENST00000316707.6_Silent_p.L150L|PTPN13_ENST00000436978.1_Silent_p.L150L|PTPN13_ENST00000502971.1_Silent_p.L150L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	150	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCGGACTGTGCTGGATGCTTG	0.428																																																	0													166.0	161.0	162.0					4																	87610245		1979	4175	6154	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.448C>T	4.37:g.87610245C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L150	ENST00000411767.2	37	c.448	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ_dom,smart_KIND	ENSG00000163629		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1		0.00	50	0	C			87610245	+1			no_errors	ENST00000436978	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.999	T
PTPRN	5798	genome.wustl.edu	37	2	220162692	220162692	+	Missense_Mutation	SNP	C	C	T	rs369674897		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:220162692C>T	ENST00000295718.2	-	13	2042	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PTPRN_ENST00000409251.3_Missense_Mutation_p.R572Q|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.R511Q|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	601					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R601Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGCATGCTGCCGCACACACAG	0.667																																																	1	Substitution - Missense(1)	lung(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	37.0	37.0	37.0		1715,1532,1802	4.8	1.0	2		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	43,43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	572/951,511/890,601/980	220162692	1,13003	2203	4299	6502	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1802G>A	2.37:g.220162692C>T	ENSP00000295718:p.Arg601Gln		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R601Q	ENST00000295718.2	37	c.1802	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.605805	0.96626	0.0	1.16E-4	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05996	3.67;3.37;3.36	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000002	T	0.27098	0.0664	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	T	0.02053	-1.1222	10	0.87932	D	0	.	17.5894	0.87991	0.0:1.0:0.0:0.0	.	572;601	Q6NSL1;Q16849	.;PTPRN_HUMAN	Q	572;601;572;511	ENSP00000386638:R572Q;ENSP00000295718:R601Q;ENSP00000444244:R511Q	ENSP00000295718:R601Q	R	-	2	0	PTPRN	219870936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.906000	0.56340	2.468000	0.83385	0.655000	0.94253	CGG	PTPRN	-	NULL	ENSG00000054356		0.667	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0.00	41	0	C			220162692	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	T
PTX3	5806	genome.wustl.edu	37	3	157160233	157160233	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:157160233T>G	ENST00000295927.3	+	3	756	c.611T>G	c.(610-612)cTt>cGt	p.L204R	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	204	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCAATGAGGCTTGAGTCTTTT	0.403																																																	0													86.0	85.0	85.0					3																	157160233		2203	4300	6503	SO:0001583	missense	0			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.611T>G	3.37:g.157160233T>G	ENSP00000295927:p.Leu204Arg		B2R6T6|Q38M82	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin	p.L204R	ENST00000295927.3	37	c.611	CCDS3180.1	3	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371426	0.42003	.	.	ENSG00000163661	ENST00000295927	T	0.17213	2.29	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.117936	0.64402	D	0.000014	T	0.52435	0.1734	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65274	-0.6208	10	0.87932	D	0	-15.3308	15.6095	0.76704	0.0:0.0:0.0:1.0	.	204	P26022	PTX3_HUMAN	R	204	ENSP00000295927:L204R	ENSP00000295927:L204R	L	+	2	0	PTX3	158642927	1.000000	0.71417	0.893000	0.35052	0.179000	0.23085	6.909000	0.75735	2.091000	0.63221	0.533000	0.62120	CTT	PTX3	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000163661		0.403	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTX3	HGNC	protein_coding	OTTHUMT00000352028.1		0.00	76	0	T	NM_002852		157160233	+1			no_errors	ENST00000295927	ensembl	human	known	74_37	missense	40.68	35	24	SNP	0.993	G
PYCRL	65263	genome.wustl.edu	37	8	144687987	144687987	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:144687987G>A	ENST00000220966.6	-	6	773	c.744C>T	c.(742-744)acC>acT	p.T248T	PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000377579.3_Silent_p.T99T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	236					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	TGCCACCCGGGGTGCACACGT	0.701																																																	0													70.0	68.0	69.0					8																	144687987		2203	4299	6502	SO:0001819	synonymous_variant	0			AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.744C>T	8.37:g.144687987G>A			B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.T248	ENST00000220966.6	37	c.744	CCDS6407.2	8																																																																																			PYCRL	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000104524		0.701	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCRL	HGNC	protein_coding	OTTHUMT00000347081.2		0.00	54	0	G	NM_023078		144687987	-1			no_errors	ENST00000220966	ensembl	human	known	74_37	silent	37.29	37	22	SNP	0.617	A
RC3H1	149041	genome.wustl.edu	37	1	173934234	173934234	+	Silent	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:173934234C>A	ENST00000367696.2	-	10	1710	c.1359G>T	c.(1357-1359)ctG>ctT	p.L453L	RC3H1_ENST00000258349.4_Silent_p.L453L|RC3H1_ENST00000367694.2_Silent_p.L453L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	453					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCTCGGAACCAGGCGCTTAT	0.398																																																	0													57.0	56.0	56.0					1																	173934234		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1359G>T	1.37:g.173934234C>A			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.L453	ENST00000367696.2	37	c.1359	CCDS30940.1	1																																																																																			RC3H1	-	NULL	ENSG00000135870		0.398	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2		0.00	46	0	C	NM_172071		173934234	-1			no_errors	ENST00000258349	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	A
RGAG4	340526	genome.wustl.edu	37	X	71350747	71350747	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:71350747G>A	ENST00000545866.1	-	1	1011	c.644C>T	c.(643-645)gCc>gTc	p.A215V	NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.A215V	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	215										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CGGGAAGTTGGCATGCAAGGG	0.607																																																	0													48.0	50.0	49.0					X																	71350747		1910	4101	6011	SO:0001583	missense	0			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.644C>T	X.37:g.71350747G>A	ENSP00000441366:p.Ala215Val		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A215V	ENST00000545866.1	37	c.644	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071304	0.55646	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12039	2.72;2.72	4.23	3.37	0.38596	Retrotransposon gag protein (1);	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.25596	N	0.986645	P	0.43750	0.816	B	0.43225	0.412	T	0.21827	-1.0234	8	.	.	.	-5.4361	7.2218	0.25992	0.121:0.0:0.879:0.0	.	215	Q5HYW3	RGAG4_HUMAN	V	215	ENSP00000441366:A215V;ENSP00000418667:A215V	.	A	-	2	0	RGAG4	71267472	0.998000	0.40836	0.885000	0.34714	0.973000	0.67179	2.303000	0.43646	1.142000	0.42291	-0.260000	0.10688	GCC	RGAG4	-	pfam_Retrotrans_gag_dom	ENSG00000242732		0.607	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1		0.00	38	0	G	NM_001024455		71350747	-1			no_errors	ENST00000479991	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.859	A
ROBO3	64221	genome.wustl.edu	37	11	124738938	124738938	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:124738938C>T	ENST00000397801.1	+	2	593	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ROBO3_ENST00000538940.1_Missense_Mutation_p.A112V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	134	Ig-like C2-type 1.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGGCGCCGCGCGCGGCCGGAC	0.701																																																	0													10.0	12.0	12.0					11																	124738938		1907	4098	6005	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.401C>T	11.37:g.124738938C>T	ENSP00000380903:p.Ala134Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A134V	ENST00000397801.1	37	c.401	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769991	0.90020	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.68025	-0.3;-0.3	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.371721	0.19496	N	0.112846	T	0.56321	0.1977	N	0.20881	0.62	0.80722	D	1	B	0.31485	0.325	B	0.37239	0.244	T	0.57388	-0.7820	10	0.42905	T	0.14	.	12.9677	0.58494	0.0:0.7023:0.2977:0.0	.	134	Q96MS0	ROBO3_HUMAN	V	134;112	ENSP00000380903:A134V;ENSP00000441797:A112V	ENSP00000380903:A134V	A	+	2	0	ROBO3	124244148	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	5.694000	0.68272	2.347000	0.79759	0.462000	0.41574	GCG	ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154134		0.701	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1		0.00	24	0	C	XM_370663		124738938	+1			no_errors	ENST00000397801	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	T
RPL10	6134	genome.wustl.edu	37	X	153627911	153627911	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:153627911G>A	ENST00000369817.2	+	5	742	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RPL10_ENST00000424325.2_Missense_Mutation_p.E56K|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.E5K			P27635	RL10_HUMAN	ribosomal protein L10	56					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGTCAGATGAATATGAGCA	0.507																																																	0													112.0	110.0	111.0					X																	153627911		2203	4300	6503	SO:0001583	missense	0			AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.166G>A	X.37:g.153627911G>A	ENSP00000358832:p.Glu56Lys		A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.E56K	ENST00000369817.2	37	c.166	CCDS14746.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.435565	0.96150	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000406022;ENST00000451365	T;T;T;T	0.79940	-0.98;-0.98;-0.98;-1.32	4.77	4.77	0.60923	Ribosomal protein L10e/L16 (2);	0.150767	0.42420	U	0.000704	D	0.92616	0.7654	H	0.96720	3.87	0.80722	D	1	P;D	0.65815	0.912;0.995	P;D	0.69654	0.876;0.965	D	0.94917	0.8070	10	0.87932	D	0	-16.8236	14.3504	0.66697	0.0:0.0:1.0:0.0	.	56;56	A6QRI9;P27635	.;RL10_HUMAN	K	56;56;56;56;56;5;39	ENSP00000358832:E56K;ENSP00000413436:E56K;ENSP00000341730:E56K;ENSP00000385621:E5K	ENSP00000341730:E56K	E	+	1	0	RPL10	153281105	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	8.919000	0.92770	1.963000	0.57068	0.600000	0.82982	GAA	RPL10	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000147403		0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10	HGNC	protein_coding	OTTHUMT00000127774.5		0.00	28	0	G	NM_006013		153627911	+1			no_errors	ENST00000344746	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A
CD81-AS1	101927682	genome.wustl.edu	37	11	2356846	2356846	+	RNA	SNP	C	C	T	rs556019721		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:2356846C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GGGCATGGAGCGGACATTGTA	0.512																																																	0													133.0	121.0	125.0					11																	2356846		2202	4299	6501			0																															11.37:g.2356846C>T				RNA	SNP	-	NULL	ENST00000413483.1	37	NULL		11																																																																																			RPL26P30	-	-	ENSG00000236264		0.512	AC129929.5-002	KNOWN	basic	antisense	RPL26P30	HGNC	processed_transcript	OTTHUMT00000143277.1		0.00	59	0	C			2356846	-1			no_errors	ENST00000602923	ensembl	human	known	74_37	rna	22.78	61	18	SNP	1.000	T
RPSAP58	388524	genome.wustl.edu	37	19	24010127	24010127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:24010127G>A	ENST00000496398.1	+	4	587	c.164G>A	c.(163-165)tGg>tAg	p.W55*	RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Nonsense_Mutation_p.W55*|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						AAGAGGACCTGGGAGAAGCTT	0.468																																																	0																																										SO:0001587	stop_gained	0					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.164G>A	19.37:g.24010127G>A	ENSP00000417240:p.Trp55*			Nonsense_Mutation	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.W55*	ENST00000496398.1	37	c.164		19	.	.	.	.	.	.	.	.	.	.	.	20.7	4.031119	0.75504	.	.	ENSG00000205246	ENST00000486528;ENST00000496398;ENST00000354585	.	.	.	2.75	2.75	0.32379	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3955	0.49838	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000346598:W55X	W	+	2	0	RPSAP58	23801967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.381000	0.73163	1.596000	0.50062	0.627000	0.83407	TGG	RPSAP58	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc	ENSG00000205246		0.468	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1		0.00	60	0	G	NR_003662		24010127	+1			no_errors	ENST00000354585	ensembl	human	known	74_37	nonsense	25.53	35	12	SNP	1.000	A
SALL2	6297	genome.wustl.edu	37	14	21992981	21992981	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr14:21992981C>T	ENST00000327430.3	-	2	1175	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R157Q|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTTGTGGCTTCGCCCAACCCC	0.602																																																	0																																										SO:0001583	missense	0			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.881G>A	14.37:g.21992981C>T	ENSP00000333537:p.Arg294Gln		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R294Q	ENST00000327430.3	37	c.881	CCDS32045.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.773681|2.773681	0.49786|0.49786	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.03920	.|3.85;3.76	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.30940	.|U	.|0.008565	T|T	0.03608|0.03608	0.0103|0.0103	L|L	0.36672|0.36672	1.1|1.1	0.27682|0.27682	N|N	0.946391|0.946391	.|P;P;P;P	.|0.39624	.|0.681;0.681;0.681;0.681	.|B;B;B;B	.|0.24701	.|0.055;0.055;0.055;0.055	T|T	0.43032|0.43032	-0.9416|-0.9416	5|10	.|0.12766	.|T	.|0.61	-23.5961|-23.5961	14.7316|14.7316	0.69386|0.69386	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;157;292;294	.|B4DK65;E7EW59;B4DFD9;Q9Y467	.|.;.;.;SALL2_HUMAN	K|Q	153|294;157;294	.|ENSP00000333537:R294Q;ENSP00000396773:R157Q	.|ENSP00000333537:R294Q	E|R	-|-	1|2	0|0	SALL2|SALL2	21062821|21062821	0.186000|0.186000	0.23225|0.23225	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.716000|0.716000	0.25836|0.25836	2.327000|2.327000	0.79052|0.79052	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SALL2	-	NULL	ENSG00000165821		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1		0.00	27	0	C	NM_005407		21992981	-1			no_errors	ENST00000327430	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T
SAMD9	54809	genome.wustl.edu	37	7	92734549	92734549	+	Silent	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr7:92734549T>G	ENST00000379958.2	-	3	1131	c.862A>C	c.(862-864)Aga>Cga	p.R288R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	288						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCACAAATCTTGGCTCTCGA	0.358																																																	0													130.0	128.0	129.0					7																	92734549		2203	4300	6503	SO:0001819	synonymous_variant	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.862A>C	7.37:g.92734549T>G			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.R288	ENST00000379958.2	37	c.862	CCDS34680.1	7																																																																																			SAMD9	-	NULL	ENSG00000205413		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0.00	40	0	T	NM_017654		92734549	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	silent	45.45	18	15	SNP	1.000	G
SARS	6301	genome.wustl.edu	37	1	109780381	109780381	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:109780381G>T	ENST00000234677.2	+	11	1491	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Missense_Mutation_p.K494N	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	472					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CCTTTGTGAAGCCTGCGCCCA	0.512																																																	0													129.0	117.0	121.0					1																	109780381		2203	4300	6503	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1416G>T	1.37:g.109780381G>T	ENSP00000234677:p.Lys472Asn		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.K494N	ENST00000234677.2	37	c.1482	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	N	16.34	3.096957	0.56075	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.79940	-1.25;-1.32	6.04	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	L	0.58428	1.81	0.80722	D	1	B;D;D;P	0.62365	0.195;0.983;0.991;0.955	B;P;P;P	0.58721	0.175;0.844;0.844;0.77	T	0.80322	-0.1431	10	0.52906	T	0.07	-29.4959	9.0349	0.36282	0.2697:0.0:0.7303:0.0	.	469;472;494;472	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	N	472;494	ENSP00000234677:K472N;ENSP00000358939:K494N	ENSP00000234677:K472N	K	+	3	2	SARS	109581904	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.810000	0.38932	1.575000	0.49775	0.585000	0.79938	AAG	SARS	-	pirsf_Ser-tRNA-ligase_type_1	ENSG00000031698		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2		0.00	59	0	G	NM_006513		109780381	+1			no_errors	ENST00000369923	ensembl	human	known	74_37	missense	8.70	41	4	SNP	1.000	T
SCAPER	49855	genome.wustl.edu	37	15	77064234	77064234	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:77064234C>A	ENST00000563290.1	-	10	1192	c.1097G>T	c.(1096-1098)cGa>cTa	p.R366L	SCAPER_ENST00000538941.2_Missense_Mutation_p.R120L|SCAPER_ENST00000324767.7_Missense_Mutation_p.R366L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	366						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCAGAAGTTCGAACATAATT	0.353																																																	0													127.0	121.0	123.0					15																	77064234		1864	4113	5977	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1097G>T	15.37:g.77064234C>A	ENSP00000454973:p.Arg366Leu		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R366L	ENST00000563290.1	37	c.1097	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316263	0.10789	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22945	1.93;1.93	5.11	-4.13	0.03904	.	1.617060	0.03084	N	0.158850	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.013;0.0;0.006	B;B;B	0.21546	0.035;0.001;0.016	T	0.34403	-0.9830	10	0.40728	T	0.16	.	8.3478	0.32284	0.0:0.1126:0.3937:0.4937	.	366;381;120	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	L	366;120;382	ENSP00000326924:R366L;ENSP00000442190:R120L	ENSP00000303560:R382L	R	-	2	0	SCAPER	74851289	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.150000	0.16263	-0.484000	0.06763	-0.291000	0.09656	CGA	SCAPER	-	NULL	ENSG00000140386		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0.00	24	0	C	NM_020843		77064234	-1			no_errors	ENST00000324767	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	A
SCN5A	6331	genome.wustl.edu	37	3	38651390	38651390	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:38651390T>G	ENST00000333535.4	-	7	918	c.769A>C	c.(769-771)Aca>Cca	p.T257P	SCN5A_ENST00000449557.2_Missense_Mutation_p.T257P|SCN5A_ENST00000451551.2_Missense_Mutation_p.T257P|SCN5A_ENST00000413689.1_Missense_Mutation_p.T257P|SCN5A_ENST00000423572.2_Missense_Mutation_p.T257P|SCN5A_ENST00000455624.2_Missense_Mutation_p.T257P|SCN5A_ENST00000414099.2_Missense_Mutation_p.T257P|SCN5A_ENST00000443581.1_Missense_Mutation_p.T257P|SCN5A_ENST00000425664.1_Missense_Mutation_p.T257P|SCN5A_ENST00000450102.2_Missense_Mutation_p.T257P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	257					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAAGACTGTGAGGACCATC	0.592																																																	0													88.0	95.0	93.0					3																	38651390		2191	4290	6481	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.769A>C	3.37:g.38651390T>G	ENSP00000328968:p.Thr257Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T257P	ENST00000333535.4	37	c.769	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763785	0.89932	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.34	5.34	0.76211	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.96996	3.92	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.999;0.999;0.999;0.998	D	0.98312	1.0524	10	0.87932	D	0	.	15.4877	0.75578	0.0:0.0:0.0:1.0	.	257;257;257;257;257;257;257	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	257;257;257;257;257;257;257;257;257;257;67	ENSP00000398962:T257P;ENSP00000398266:T257P;ENSP00000410257:T257P;ENSP00000388797:T257P;ENSP00000397915:T257P;ENSP00000416634:T257P;ENSP00000328968:T257P;ENSP00000399524:T257P;ENSP00000403355:T257P;ENSP00000413996:T257P	ENSP00000328968:T257P	T	-	1	0	SCN5A	38626394	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.868000	0.87116	2.248000	0.74166	0.533000	0.62120	ACA	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0.00	25	0	T	NM_198056		38651390	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	G
SEC14L1	6397	genome.wustl.edu	37	17	75190773	75190773	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:75190773C>G	ENST00000413679.2	+	7	792	c.489C>G	c.(487-489)atC>atG	p.I163M	SEC14L1_ENST00000443798.4_Missense_Mutation_p.I163M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.I163M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.I163M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.I129M|SEC14L1_ENST00000591437.1_Missense_Mutation_p.I129M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.I163M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.I163M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	163	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGGAAATCATCGAATACTACC	0.388																																																	0													74.0	71.0	72.0					17																	75190773		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.489C>G	17.37:g.75190773C>G	ENSP00000394716:p.Ile163Met		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.I163M	ENST00000413679.2	37	c.489	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438944	0.43326	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.36	-10.7	0.00240	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.87547	2.89	0.33851	D	0.632639	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.76482	-0.2943	10	0.87932	D	0	-26.5113	17.0921	0.86625	0.0832:0.6948:0.0:0.222	.	163;163	Q92503-2;Q92503	.;S14L1_HUMAN	M	163;163;163;163;163;129	ENSP00000376268:I163M;ENSP00000406030:I163M;ENSP00000390392:I163M;ENSP00000408169:I163M;ENSP00000394716:I163M;ENSP00000389838:I129M	ENSP00000376268:I163M	I	+	3	3	SEC14L1	72702368	0.000000	0.05858	0.069000	0.20011	0.821000	0.46438	-2.722000	0.00810	-2.855000	0.00329	-1.305000	0.01319	ATC	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000129657		0.388	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1		0.00	34	0	C	NM_003003		75190773	+1			no_errors	ENST00000392476	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.067	G
SELL	6402	genome.wustl.edu	37	1	169677719	169677719	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:169677719T>G	ENST00000236147.4	-	3	510	c.350A>C	c.(349-351)aAc>aCc	p.N117T	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAGAGATTTGTTGGTTCCCAC	0.458																																																	0													91.0	88.0	89.0					1																	169677719		2008	4185	6193	SO:0001583	missense	0			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.350A>C	1.37:g.169677719T>G	ENSP00000236147:p.Asn117Thr		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.N117T	ENST00000236147.4	37	c.350	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283976	0.80803	.	.	ENSG00000188404	ENST00000236147	T	0.16897	2.31	5.62	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000031	T	0.17874	0.0429	L	0.52759	1.655	0.46044	D	0.998833	D;D	0.60575	0.977;0.988	P;P	0.58721	0.844;0.844	T	0.01212	-1.1417	10	0.66056	D	0.02	-26.0503	10.281	0.43539	0.0:0.078:0.0:0.9219	.	117;104	Q8WW79;P14151	.;LYAM1_HUMAN	T	117	ENSP00000236147:N117T	ENSP00000236147:N117T	N	-	2	0	SELL	167944343	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.051000	0.41307	0.976000	0.38417	0.477000	0.44152	AAC	SELL	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin	ENSG00000188404		0.458	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1		0.00	56	0	T	NM_000655		169677719	-1			no_errors	ENST00000236147	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	G
SETX	23064	genome.wustl.edu	37	9	135205659	135205659	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:135205659T>G	ENST00000224140.5	-	10	1508	c.1326A>C	c.(1324-1326)gaA>gaC	p.E442D	SETX_ENST00000393220.1_Missense_Mutation_p.E442D|SETX_ENST00000372169.2_Missense_Mutation_p.E442D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	442					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGTTGAGGACTTCTTTGACTT	0.378																																																	0													101.0	87.0	92.0					9																	135205659		2203	4300	6503	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1326A>C	9.37:g.135205659T>G	ENSP00000224140:p.Glu442Asp		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E442D	ENST00000224140.5	37	c.1326	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	2.911	-0.225394	0.06022	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.75704	-0.96;-0.96;-0.96	5.74	0.836	0.18891	.	0.061910	0.64402	N	0.000008	T	0.33527	0.0866	N	0.01048	-1.04	0.20638	N	0.999875	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40515	-0.9559	10	0.02654	T	1	.	4.9411	0.13965	0.6627:0.0:0.2104:0.127	.	442;442;442	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	442	ENSP00000224140:E442D;ENSP00000361242:E442D;ENSP00000376913:E442D	ENSP00000224140:E442D	E	-	3	2	SETX	134195480	0.863000	0.29885	1.000000	0.80357	0.946000	0.59487	0.224000	0.17738	0.114000	0.18032	-0.282000	0.10007	GAA	SETX	-	NULL	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0.00	16	0	T	NM_015046		135205659	-1			no_errors	ENST00000372169	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	G
SI	6476	genome.wustl.edu	37	3	164714372	164714372	+	Missense_Mutation	SNP	A	A	C	rs557372761		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:164714372A>C	ENST00000264382.3	-	40	4705	c.4643T>G	c.(4642-4644)cTt>cGt	p.L1548R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1548	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAATGCTCCAAGTTGCATCCA	0.328										HNSCC(35;0.089)																																							0													82.0	81.0	82.0					3																	164714372		2203	4296	6499	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4643T>G	3.37:g.164714372A>C	ENSP00000264382:p.Leu1548Arg		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1548R	ENST00000264382.3	37	c.4643	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011211	0.75046	.	.	ENSG00000090402	ENST00000264382	D	0.93953	-3.32	4.42	4.42	0.53409	Glycoside hydrolase, superfamily (1);	0.077878	0.52532	D	0.000065	D	0.97729	0.9255	H	0.97158	3.95	0.47819	D	0.999524	D	0.89917	1.0	D	0.97110	1.0	D	0.98816	1.0745	10	0.87932	D	0	.	13.7653	0.62990	1.0:0.0:0.0:0.0	.	1548	P14410	SUIS_HUMAN	R	1548	ENSP00000264382:L1548R	ENSP00000264382:L1548R	L	-	2	0	SI	166197066	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.711000	0.91396	1.982000	0.57802	0.477000	0.44152	CTT	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0.00	48	0	A	NM_001041		164714372	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	C
SKOR1	390598	genome.wustl.edu	37	15	68120279	68120279	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:68120279G>A	ENST00000380035.2	+	2	2171	c.2113G>A	c.(2113-2115)Gcg>Acg	p.A705T	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Missense_Mutation_p.A666T|SKOR1_ENST00000389002.1_Missense_Mutation_p.A661T|SKOR1_ENST00000554054.1_Missense_Mutation_p.A677T			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	705					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTCCTCTGGCGCGGACGGTCC	0.761																																																	0													7.0	10.0	9.0					15																	68120279		2114	4148	6262	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2113G>A	15.37:g.68120279G>A	ENSP00000369374:p.Ala705Thr		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.A705T	ENST00000380035.2	37	c.2113		15	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696582	0.30142	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	4.43	3.51	0.40186	.	0.818239	0.10869	N	0.625134	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	P	0.38642	0.641	B	0.30495	0.116	T	0.18587	-1.0332	10	0.26408	T	0.33	-1.894	12.4294	0.55565	0.0:0.1707:0.8293:0.0	.	661	P84550-3	.	T	666;677;705;661	ENSP00000451193:A666T;ENSP00000452361:A677T;ENSP00000369374:A705T;ENSP00000373654:A661T	ENSP00000369374:A705T	A	+	1	0	SKOR1	65907333	0.198000	0.23374	0.012000	0.15200	0.025000	0.11179	2.273000	0.43381	1.212000	0.43366	0.655000	0.94253	GCG	SKOR1	-	NULL	ENSG00000188779		0.761	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1		0.00	20	0	G	NM_001031807		68120279	+1			no_errors	ENST00000380035	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.145	A
SLAMF8	56833	genome.wustl.edu	37	1	159805039	159805039	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:159805039G>A	ENST00000289707.5	+	5	996	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SLAMF8_ENST00000368104.4_Missense_Mutation_p.D174N|C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	283					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTGTGCAGGATCTGCCATA	0.493																																																	0													101.0	91.0	95.0					1																	159805039		2203	4300	6503	SO:0001583	missense	0			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.847G>A	1.37:g.159805039G>A	ENSP00000289707:p.Asp283Asn		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like_dom	p.D283N	ENST00000289707.5	37	c.847	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044543	0.55110	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.33216	3.45;1.42	4.65	2.74	0.32292	.	3.387730	0.01579	N	0.020975	T	0.05640	0.0148	N	0.08118	0	0.47905	D	0.999546	B	0.26400	0.148	B	0.22601	0.04	T	0.34004	-0.9846	10	0.12766	T	0.61	4.7601	6.8632	0.24077	0.215:0.0:0.785:0.0	.	283	Q9P0V8	SLAF8_HUMAN	N	283;174	ENSP00000289707:D283N;ENSP00000357084:D174N	ENSP00000289707:D283N	D	+	1	0	SLAMF8	158071663	0.012000	0.17670	0.254000	0.24359	0.732000	0.41865	-0.048000	0.11944	0.660000	0.30964	0.650000	0.86243	GAT	SLAMF8	-	NULL	ENSG00000158714		0.493	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1		0.00	49	0	G	NM_020125		159805039	+1			no_errors	ENST00000289707	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.571	A
SLC22A16	85413	genome.wustl.edu	37	6	110763546	110763546	+	Missense_Mutation	SNP	C	C	A	rs149834139		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:110763546C>A	ENST00000368919.3	-	4	1150	c.1084G>T	c.(1084-1086)Gtt>Ttt	p.V362F	SLC22A16_ENST00000439654.1_Missense_Mutation_p.V362F|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V328F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	362					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.V362I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATTAGCCAAACGGTAAGTGTC	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											117.0	115.0	116.0					6																	110763546		2203	4300	6503	SO:0001583	missense	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1084G>T	6.37:g.110763546C>A	ENSP00000357915:p.Val362Phe		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V362F	ENST00000368919.3	37	c.1084	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092415	0.55968	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.74737	0.32;0.32;0.32;0.32;0.32;-0.87	4.78	-6.67	0.01783	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.881639	0.09911	N	0.739817	T	0.66626	0.2808	M	0.65975	2.015	0.24646	N	0.993546	D;D	0.60160	0.987;0.984	P;P	0.62014	0.897;0.835	T	0.66834	-0.5823	10	0.66056	D	0.02	.	7.2502	0.26146	0.0:0.3758:0.27:0.3542	.	362;328	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	F	362;279;328;362;192;319	ENSP00000357915:V362F;ENSP00000395642:V279F;ENSP00000328583:V328F;ENSP00000408799:V362F;ENSP00000409306:V192F;ENSP00000416310:V319F	ENSP00000328583:V328F	V	-	1	0	SLC22A16	110870239	0.036000	0.19791	0.000000	0.03702	0.112000	0.19704	0.163000	0.16520	-1.787000	0.01268	0.655000	0.94253	GTT	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1		0.00	65	0	C	NM_033125		110763546	-1			no_errors	ENST00000368919	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.002	A
SLC27A6	28965	genome.wustl.edu	37	5	128326101	128326101	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:128326101G>A	ENST00000262462.4	+	4	1923	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V305M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V305M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	305					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAAGTATGATGTGACTGTGTT	0.363																																																	0													127.0	122.0	124.0					5																	128326101		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.913G>A	5.37:g.128326101G>A	ENSP00000262462:p.Val305Met		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V305M	ENST00000262462.4	37	c.913	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016747	0.75161	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.59	3.73	0.42828	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.93016	3.37	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.82002	-0.0673	9	.	.	.	-0.0174	13.8344	0.63400	0.075:0.0:0.925:0.0	.	305	Q9Y2P4	S27A6_HUMAN	M	124;305;305;305	ENSP00000421759:V124M;ENSP00000262462:V305M;ENSP00000378684:V305M;ENSP00000421024:V305M	.	V	+	1	0	SLC27A6	128354000	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.114000	0.64648	1.534000	0.49203	0.650000	0.86243	GTG	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0.00	60	0	G	NM_014031		128326101	+1			no_errors	ENST00000262462	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A
SLC39A6	25800	genome.wustl.edu	37	18	33689576	33689576	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:33689576C>T	ENST00000590986.1	-	10	2537	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	SLC39A6_ENST00000269187.5_Missense_Mutation_p.V750M			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	750					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATACGAAACACGATTTTATGT	0.353																																																	0													87.0	88.0	88.0					18																	33689576		1818	4087	5905	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2248G>A	18.37:g.33689576C>T	ENSP00000465915:p.Val750Met		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.V750M	ENST00000590986.1	37	c.2248	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329526	0.81690	.	.	ENSG00000141424	ENST00000269187;ENST00000543723	T	0.65364	-0.15	5.53	5.53	0.82687	.	0.368412	0.29073	N	0.013225	T	0.67258	0.2874	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.67122	-0.5750	10	0.40728	T	0.16	-14.343	17.3058	0.87194	0.0:1.0:0.0:0.0	.	750	Q13433	S39A6_HUMAN	M	750;405	ENSP00000269187:V750M	ENSP00000269187:V750M	V	-	1	0	SLC39A6	31943574	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.512000	0.53407	2.762000	0.94881	0.591000	0.81541	GTG	SLC39A6	-	NULL	ENSG00000141424		0.353	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1		0.00	26	0	C			33689576	-1			no_errors	ENST00000269187	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168199825	168199825	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:168199825G>A	ENST00000519560.1	-	14	1839	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	SLIT3_ENST00000404867.3_Missense_Mutation_p.R474C|SLIT3_ENST00000332966.8_Missense_Mutation_p.R474C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	474	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGCTGATGCGCTTGTTGGCG	0.627																																					Ovarian(29;311 847 10864 17279 24903)												0													46.0	47.0	47.0					5																	168199825		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1420C>T	5.37:g.168199825G>A	ENSP00000430333:p.Arg474Cys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R474C	ENST00000519560.1	37	c.1420	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735435	0.89482	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77098	-1.07;-1.06;-1.06	5.49	5.49	0.81192	Cysteine-rich flanking region, C-terminal (2);	0.107094	0.64402	D	0.000009	D	0.88411	0.6429	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.89732	0.3927	10	0.87932	D	0	.	14.2451	0.65983	0.0:0.0:0.851:0.149	.	474;474;474	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	C	474	ENSP00000430333:R474C;ENSP00000332164:R474C;ENSP00000384890:R474C	ENSP00000332164:R474C	R	-	1	0	SLIT3	168132403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.871000	0.87180	2.566000	0.86566	0.561000	0.74099	CGC	SLIT3	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C	ENSG00000184347		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	147	0	G	NM_003062		168199825	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	28.29	109	43	SNP	1.000	A
SMAD4	4089	genome.wustl.edu	37	18	48603032	48603032	+	Nonsense_Mutation	SNP	C	C	T	rs377767360		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr18:48603032C>T	ENST00000342988.3	+	11	1871	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R349*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R445*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	445	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R445*(7)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGTGTCATCGACAGATGCA	0.458																																																	46	Whole gene deletion(36)|Substitution - Nonsense(7)|Unknown(2)|Deletion - Frameshift(1)	pancreas(30)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)|NS(1)	GRCh37	CM000742	SMAD4	M							43.0	44.0	44.0					18																	48603032		2203	4300	6503	SO:0001587	stop_gained	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1333C>T	18.37:g.48603032C>T	ENSP00000341551:p.Arg445*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R445*	ENST00000342988.3	37	c.1333	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.519426	0.99193	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000341551:R445X	R	+	1	2	SMAD4	46857030	1.000000	0.71417	0.643000	0.29450	0.984000	0.73092	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	CGA	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0.00	72	0	C	NM_005359		48603032	+1			no_errors	ENST00000342988	ensembl	human	known	74_37	nonsense	53.45	27	31	SNP	1.000	T
SMC2	10592	genome.wustl.edu	37	9	106885419	106885419	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:106885419G>A	ENST00000286398.7	+	17	2451	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	SMC2_ENST00000303219.8_Missense_Mutation_p.M721I|SMC2_ENST00000374787.3_Missense_Mutation_p.M721I|SMC2_ENST00000374793.3_Missense_Mutation_p.M721I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	721					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGTGGGAGATGAAAACTGAAG	0.353																																																	0													77.0	72.0	74.0					9																	106885419		2203	4300	6503	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2163G>A	9.37:g.106885419G>A	ENSP00000286398:p.Met721Ile		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.M721I	ENST00000286398.7	37	c.2163	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648869	0.47362	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78364	-1.09;-1.09;-1.17;-1.09	5.24	4.29	0.51040	.	0.097788	0.64402	D	0.000001	T	0.62877	0.2464	N	0.12182	0.205	0.39703	D	0.971215	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.003	T	0.60367	-0.7277	10	0.34782	T	0.22	-14.45	16.2317	0.82347	0.0:0.1451:0.8549:0.0	.	721;721	O95347;Q2KQ72	SMC2_HUMAN;.	I	721	ENSP00000286398:M721I;ENSP00000363925:M721I;ENSP00000306152:M721I;ENSP00000363919:M721I	ENSP00000286398:M721I	M	+	3	0	SMC2	105925240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.226000	0.72277	2.434000	0.82447	0.650000	0.86243	ATG	SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0.00	43	0	G			106885419	+1			no_errors	ENST00000286398	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57288842	57288842	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:57288842A>C	ENST00000543872.2	+	2	1694	c.1430A>C	c.(1429-1431)aAg>aCg	p.K477T	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.K477T|SMG8_ENST00000300917.5_Missense_Mutation_p.K477T			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	477					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTAACATCTAAGATTTTAAGC	0.423																																																	0													56.0	59.0	58.0					17																	57288842		2203	4300	6503	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1430A>C	17.37:g.57288842A>C	ENSP00000438748:p.Lys477Thr		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.K477T	ENST00000543872.2	37	c.1430	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511887	0.64522	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.55052	0.54;0.54	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.49350	1.555	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.69610	-0.5099	10	0.66056	D	0.02	-13.9788	14.9636	0.71174	1.0:0.0:0.0:0.0	.	477	Q8ND04	SMG8_HUMAN	T	477	ENSP00000300917:K477T;ENSP00000438748:K477T	ENSP00000300917:K477T	K	+	2	0	SMG8	54643624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.124000	0.65301	0.533000	0.62120	AAG	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.423	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2		0.00	42	0	A	NM_018149		57288842	+1			no_errors	ENST00000300917	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C
SMPD1	6609	genome.wustl.edu	37	11	6412634	6412634	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:6412634C>T	ENST00000342245.4	+	2	507	c.339C>T	c.(337-339)cgC>cgT	p.R113R	SMPD1_ENST00000527275.1_Silent_p.R112R|SMPD1_ENST00000299397.3_Silent_p.R113R|SMPD1_ENST00000356761.2_Silent_p.R113R|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	111	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ATGTGGCTCGCGTGGGCTCCG	0.592																																																	0													60.0	51.0	54.0					11																	6412634		2201	4296	6497	SO:0001819	synonymous_variant	0			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.339C>T	11.37:g.6412634C>T			A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.R113	ENST00000342245.4	37	c.339	CCDS44531.1	11																																																																																			SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	ENSG00000166311		0.592	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1		0.00	10	0	C	NM_000543		6412634	+1			no_errors	ENST00000342245	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.241	T
SNRPA1	6627	genome.wustl.edu	37	15	101827875	101827875	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:101827875C>T	ENST00000254193.6	-	4	414	c.342G>A	c.(340-342)tcG>tcA	p.S114S	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	114					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTAAGTCAGCGATTTGAGAG	0.398																																																	0													113.0	102.0	106.0					15																	101827875		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.342G>A	15.37:g.101827875C>T			B2R5I6|Q8TBD2	Silent	SNP	smart_U2A'_phosphoprotein32A_C	p.S114	ENST00000254193.6	37	c.342	CCDS10391.1	15																																																																																			SNRPA1	-	NULL	ENSG00000131876		0.398	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2		0.00	48	0	C	NM_003090		101827875	-1			no_errors	ENST00000254193	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.007	T
SORCS3	22986	genome.wustl.edu	37	10	106937852	106937852	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:106937852G>A	ENST00000369701.3	+	14	2157	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	644					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCACTCTTGGGACAAGTATGG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0													248.0	213.0	225.0					10																	106937852		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1930G>A	10.37:g.106937852G>A	ENSP00000358715:p.Asp644Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D644N	ENST00000369701.3	37	c.1930	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116501	0.37339	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.21361	2.01;2.01	5.48	3.63	0.41609	VPS10 (1);	0.357001	0.32204	N	0.006435	T	0.09202	0.0227	N	0.11131	0.1	0.34844	D	0.740962	B	0.09022	0.002	B	0.08055	0.003	T	0.19582	-1.0301	9	.	.	.	.	6.3039	0.21127	0.3277:0.0:0.6723:0.0	.	644	Q9UPU3	SORC3_HUMAN	N	644;89	ENSP00000358715:D644N;ENSP00000376876:D89N	.	D	+	1	0	SORCS3	106927842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.695000	0.54749	1.305000	0.44909	0.460000	0.39030	GAC	SORCS3	-	smart_VPS10	ENSG00000156395		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0.00	136	0	G	NM_014978		106937852	+1			no_errors	ENST00000369701	ensembl	human	known	74_37	missense	16.15	135	26	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174820856	174820856	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:174820856C>G	ENST00000310015.6	-	4	914	c.384G>C	c.(382-384)caG>caC	p.Q128H	SP3_ENST00000483084.1_5'UTR|SP3_ENST00000455789.2_Missense_Mutation_p.Q75H|SP3_ENST00000418194.2_Missense_Mutation_p.Q60H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	128					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CACTTGGAATCTGGACTAGAT	0.438																																																	0													144.0	129.0	134.0					2																	174820856		2203	4300	6503	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.384G>C	2.37:g.174820856C>G	ENSP00000310301:p.Gln128His		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q128H	ENST00000310015.6	37	c.384	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.633|8.633	0.894218|0.894218	0.17613|0.17613	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.05925|.	3.37;3.49;3.5|.	5.95|5.95	3.83|3.83	0.44106|0.44106	.|.	0.050129|.	0.85682|.	D|.	0.000000|.	T|T	0.62974|0.62974	0.2472|0.2472	L|L	0.55481|0.55481	1.735|1.735	0.43084|0.43084	D|D	0.994745|0.994745	B;B;B|.	0.28082|.	0.126;0.073;0.2|.	B;B;B|.	0.24155|.	0.023;0.008;0.051|.	T|T	0.62784|0.62784	-0.6781|-0.6781	10|5	0.33141|.	T|.	0.24|.	.|.	13.6628|13.6628	0.62376|0.62376	0.0:0.8542:0.0:0.1458|0.0:0.8542:0.0:0.1458	.|.	125;128;75|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	H|T	128;75;60|85	ENSP00000310301:Q128H;ENSP00000388903:Q75H;ENSP00000406140:Q60H|.	ENSP00000310301:Q128H|.	Q|R	-|-	3|2	2|0	SP3|SP3	174529102|174529102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.907000|1.907000	0.39897|0.39897	1.509000|1.509000	0.48786|0.48786	0.563000|0.563000	0.77884|0.77884	CAG|AGA	SP3	-	superfamily_Galactose-bd-like	ENSG00000172845		0.438	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1		0.00	71	0	C	NM_003111		174820856	-1			no_errors	ENST00000310015	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	G
RP11-383M4.6	0	genome.wustl.edu	37	9	84547720	84547720	+	lincRNA	SNP	G	G	C	rs138456481	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:84547720G>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA|RP11-383M4.2_ENST00000427387.1_lincRNA																							TGAGGACCACGGCGTTGATAC	0.418													N|||	173	0.0345447	0.1006	0.0086	5008	,	,		17728	0.004		0.0258	False		,,,				2504	0.0041																0																																												0																															9.37:g.84547720G>C				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D4	-	-	ENSG00000189357		0.418	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D4	HGNC	lincRNA	OTTHUMT00000453562.1		0.00	31	0	G			84547720	+1			no_errors	ENST00000341875	ensembl	human	known	74_37	rna	10.34	26	3	SNP	0.000	C
SPECC1L	23384	genome.wustl.edu	37	22	24718716	24718716	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr22:24718716G>A	ENST00000314328.9	+	5	2053	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V590M|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V590M|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V590M|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	590					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAAGCAGAAAGTGGCAGAGCT	0.483																																																	0													74.0	77.0	76.0					22																	24718716		2203	4300	6503	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1768G>A	22.37:g.24718716G>A	ENSP00000325785:p.Val590Met		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.V590M	ENST00000314328.9	37	c.1768	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801117	0.70567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.63744	-0.06;2.42;-0.06;2.96	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.39633	1.23	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.65773	0.938;0.881	T	0.69224	-0.5201	10	0.39692	T	0.17	-29.069	18.8439	0.92196	0.0:0.0:1.0:0.0	.	590;590	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	M	618;590;590;590;590	ENSP00000393363:V590M;ENSP00000405671:V590M;ENSP00000325785:V590M;ENSP00000439633:V590M	ENSP00000325785:V590M	V	+	1	0	SPECC1L	23048716	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.362000	0.73077	2.707000	0.92482	0.655000	0.94253	GTG	SPECC1L	-	NULL	ENSG00000100014		0.483	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2		0.00	14	0	G	NM_015330		24718716	+1			no_errors	ENST00000314328	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158612245	158612245	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:158612245G>C	ENST00000368147.4	-	33	4873	c.4693C>G	c.(4693-4695)Ctg>Gtg	p.L1565V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1565					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTCAATCAGGGAGTTCCCC	0.473																																																	0													105.0	104.0	105.0					1																	158612245		1987	4172	6159	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4693C>G	1.37:g.158612245G>C	ENSP00000357129:p.Leu1565Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1565V	ENST00000368147.4	37	c.4693	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742374	0.49151	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.63255	-0.03;-0.03	5.26	2.42	0.29668	.	0.000000	0.26535	N	0.023838	T	0.74696	0.3750	M	0.91196	3.185	0.42859	D	0.9941	D	0.71674	0.998	D	0.75484	0.986	T	0.77960	-0.2391	10	0.87932	D	0	.	9.5335	0.39209	0.2299:0.0:0.7701:0.0	.	1565	P02549	SPTA1_HUMAN	V	1565	ENSP00000357130:L1565V;ENSP00000357129:L1565V	ENSP00000357129:L1565V	L	-	1	2	SPTA1	156878869	1.000000	0.71417	0.845000	0.33349	0.342000	0.28953	3.930000	0.56522	0.381000	0.24851	0.655000	0.94253	CTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	36	0	G	NM_003126		158612245	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	C
SPTAN1	6709	genome.wustl.edu	37	9	131344063	131344063	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:131344063G>A	ENST00000372731.4	+	12	1574	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	SPTAN1_ENST00000372739.3_Silent_p.A488A|SPTAN1_ENST00000358161.5_Silent_p.A488A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	488					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A488A(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGGCAAGGCGTTCCTGTTGA	0.408																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - coding silent(1)	large_intestine(1)											257.0	255.0	256.0					9																	131344063		2203	4300	6503	SO:0001819	synonymous_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1464G>A	9.37:g.131344063G>A			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A488	ENST00000372731.4	37	c.1464	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.408	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0.00	77	0	G	NM_003127		131344063	+1			no_errors	ENST00000358161	ensembl	human	known	74_37	silent	32.31	44	21	SNP	0.950	A
STAP1	26228	genome.wustl.edu	37	4	68459027	68459027	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:68459027C>T	ENST00000265404.2	+	8	861	c.779C>T	c.(778-780)aCt>aTt	p.T260I	STAP1_ENST00000396225.1_Missense_Mutation_p.T260I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	260	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GTGAAGGAGACTCGAGGAAAT	0.338																																																	0													165.0	162.0	163.0					4																	68459027		2203	4300	6503	SO:0001583	missense	0			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.779C>T	4.37:g.68459027C>T	ENSP00000265404:p.Thr260Ile		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.T260I	ENST00000265404.2	37	c.779	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993339	0.74703	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.56275	0.47;0.47	5.65	5.65	0.86999	SH2 motif (2);	0.116819	0.56097	D	0.000038	T	0.73156	0.3551	M	0.77820	2.39	0.47441	D	0.999428	D	0.89917	1.0	D	0.85130	0.997	T	0.76088	-0.3087	10	0.87932	D	0	-14.626	15.2201	0.73306	0.0:1.0:0.0:0.0	.	260	Q9ULZ2	STAP1_HUMAN	I	260	ENSP00000265404:T260I;ENSP00000379527:T260I	ENSP00000265404:T260I	T	+	2	0	STAP1	68141622	0.997000	0.39634	0.999000	0.59377	0.990000	0.78478	4.021000	0.57196	2.665000	0.90641	0.650000	0.86243	ACT	STAP1	-	smart_SH2,pfscan_SH2	ENSG00000035720		0.338	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1		0.00	95	0	C	NM_012108		68459027	+1			no_errors	ENST00000265404	ensembl	human	known	74_37	missense	42.68	47	35	SNP	0.999	T
SVEP1	79987	genome.wustl.edu	37	9	113168502	113168502	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:113168502C>T	ENST00000401783.2	-	38	9714	c.9378G>A	c.(9376-9378)ccG>ccA	p.P3126P	SVEP1_ENST00000297826.5_Silent_p.P1052P|SVEP1_ENST00000374469.1_Silent_p.P3103P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3126	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCGACAGACGGTGGGGACC	0.527																																																	0													114.0	120.0	118.0					9																	113168502		1994	4165	6159	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9378G>A	9.37:g.113168502C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P3126	ENST00000401783.2	37	c.9378	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0.00	74	0	C			113168502	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	silent	32.86	47	23	SNP	0.000	T
SYNE1	23345	genome.wustl.edu	37	6	152652864	152652864	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr6:152652864C>G	ENST00000367255.5	-	78	13557	c.12956G>C	c.(12955-12957)aGt>aCt	p.S4319T	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4184T|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4248T|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4319T|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4248T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4319					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTAAATGACTCGTCTGTTC	0.398										HNSCC(10;0.0054)																																							0													136.0	127.0	130.0					6																	152652864		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12956G>C	6.37:g.152652864C>G	ENSP00000356224:p.Ser4319Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4319T	ENST00000367255.5	37	c.12956	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	7.034	0.561167	0.13498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.99	3.22	0.36961	.	0.423542	0.24915	N	0.034591	T	0.10852	0.0265	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.31548	0.328;0.112;0.112;0.178	B;B;B;B	0.29785	0.107;0.036;0.036;0.073	T	0.29305	-1.0016	10	0.12766	T	0.61	.	9.6153	0.39687	0.0:0.7563:0.117:0.1266	.	4319;4319;4319;4248	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	4319;4248;4319;4248;4184	ENSP00000356224:S4319T;ENSP00000396024:S4248T;ENSP00000265368:S4319T;ENSP00000390975:S4248T;ENSP00000341887:S4184T	ENSP00000265368:S4319T	S	-	2	0	SYNE1	152694557	0.097000	0.21791	0.181000	0.23098	0.964000	0.63967	3.271000	0.51608	0.405000	0.25532	0.655000	0.94253	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	54	0	C	NM_182961		152652864	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.230	G
TBX2	6909	genome.wustl.edu	37	17	59485501	59485501	+	Silent	SNP	C	C	T	rs61756219	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:59485501C>T	ENST00000240328.3	+	7	2054	c.1773C>T	c.(1771-1773)ccC>ccT	p.P591P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	591	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						cggctttgcccgccactagtg	0.672																																					GBM(3;187 253 11467 14965 23079)												0													12.0	14.0	14.0					17																	59485501		2040	4064	6104	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1773C>T	17.37:g.59485501C>T			Q16424|Q7Z647	Silent	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P591	ENST00000240328.3	37	c.1773	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0.00	18	0	C	NM_005994		59485501	+1			no_errors	ENST00000240328	ensembl	human	novel	74_37	silent	30.00	14	6	SNP	0.720	T
TBX22	50945	genome.wustl.edu	37	X	79279597	79279597	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:79279597G>T	ENST00000373294.5	+	3	420	c.392G>T	c.(391-393)gGg>gTg	p.G131V	TBX22_ENST00000442340.1_Missense_Mutation_p.G11V|TBX22_ENST00000373296.3_Missense_Mutation_p.G131V|TBX22_ENST00000373291.1_Missense_Mutation_p.G11V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	131					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGGTGAAAGGGTTGGATCCA	0.493																																																	0													171.0	134.0	146.0					X																	79279597		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.392G>T	X.37:g.79279597G>T	ENSP00000362390:p.Gly131Val		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.G131V	ENST00000373294.5	37	c.392	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345180	0.61073	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.71	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.128939	0.53938	D	0.000057	D	0.98664	0.9552	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99809	1.1040	10	0.87932	D	0	.	15.3729	0.74581	0.0:0.0:1.0:0.0	.	131	Q9Y458	TBX22_HUMAN	V	131;11;131;11	ENSP00000362393:G131V;ENSP00000396394:G11V;ENSP00000362390:G131V;ENSP00000362388:G11V	ENSP00000362388:G11V	G	+	2	0	TBX22	79166253	1.000000	0.71417	0.969000	0.41365	0.816000	0.46133	3.846000	0.55888	1.922000	0.55676	0.594000	0.82650	GGG	TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000122145		0.493	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1		0.00	41	0	G	NM_016954		79279597	+1			no_errors	ENST00000373294	ensembl	human	known	74_37	missense	52.73	26	29	SNP	0.998	T
TDRKH	11022	genome.wustl.edu	37	1	151749017	151749017	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:151749017A>G	ENST00000368822.1	-	7	1575	c.942T>C	c.(940-942)gcT>gcC	p.A314A	TDRKH_ENST00000368824.3_Silent_p.A314A|TDRKH_ENST00000368823.1_Silent_p.A310A|TDRKH_ENST00000440583.2_Silent_p.A90A|TDRKH_ENST00000458431.2_Silent_p.A314A|TDRKH_ENST00000368827.6_Silent_p.A314A|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000368825.3_Silent_p.A269A			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	314					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGCTCAGAAGCAGAAACGT	0.488																																																	0													112.0	111.0	111.0					1																	151749017		1938	4144	6082	SO:0001819	synonymous_variant	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.942T>C	1.37:g.151749017A>G			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.A314	ENST00000368822.1	37	c.942	CCDS41394.1	1																																																																																			TDRKH	-	pfam_Tudor	ENSG00000182134		0.488	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2		0.00	27	0	A	NM_006862		151749017	-1			no_errors	ENST00000368822	ensembl	human	known	74_37	silent	25.53	35	12	SNP	0.848	G
TENM3	55714	genome.wustl.edu	37	4	183651467	183651467	+	Silent	SNP	C	C	T	rs529748049		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:183651467C>T	ENST00000511685.1	+	15	2823	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	TENM3_ENST00000406950.2_Silent_p.D900D|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	900					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCGCCAGGACGGAATGTGAG	0.398																																																	0													104.0	96.0	99.0					4																	183651467		1865	4089	5954	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2700C>T	4.37:g.183651467C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D900	ENST00000511685.1	37	c.2700	CCDS47165.1	4																																																																																			TENM3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000218336		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0.00	38	0	C			183651467	+1			no_errors	ENST00000406950	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.966	T
TGFB1I1	7041	genome.wustl.edu	37	16	31485023	31485023	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:31485023A>G	ENST00000394863.3	+	3	280	c.150A>G	c.(148-150)tcA>tcG	p.S50S	TGFB1I1_ENST00000394858.2_Silent_p.S33S|TGFB1I1_ENST00000567607.1_Silent_p.S33S|TGFB1I1_ENST00000361773.3_Silent_p.S33S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	50	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GGGAGTCTTCAGGAGCCTCGG	0.632																																																	0													65.0	74.0	71.0					16																	31485023		2197	4300	6497	SO:0001819	synonymous_variant	0			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.150A>G	16.37:g.31485023A>G			B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	NULL	p.R12G	ENST00000394863.3	37	c.34	CCDS42156.1	16																																																																																			TGFB1I1	-	NULL	ENSG00000140682		0.632	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3		0.00	33	0	A			31485023	+1			no_errors	ENST00000567066	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.912	G
TLE4	7091	genome.wustl.edu	37	9	82267549	82267549	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:82267549C>T	ENST00000376552.2	+	7	1450	c.432C>T	c.(430-432)ctC>ctT	p.L144L	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.L144L|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Silent_p.L119L|TLE4_ENST00000376544.3_Silent_p.L144L|TLE4_ENST00000376520.4_Silent_p.L144L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	144	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACATGGTCTCCCCGTACCTC	0.557																																																	0													109.0	118.0	115.0					9																	82267549		2058	4189	6247	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.432C>T	9.37:g.82267549C>T			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.L144	ENST00000376552.2	37	c.432	CCDS43837.1	9																																																																																			TLE4	-	NULL	ENSG00000106829		0.557	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4		0.00	20	0	C	XM_212237		82267549	+1			no_errors	ENST00000376520	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.988	T
TM4SF20	79853	genome.wustl.edu	37	2	228243936	228243936	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:228243936C>A	ENST00000304568.3	-	1	86	c.49G>T	c.(49-51)Gtt>Ttt	p.V17F		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGCAGTAGAACCAGCAGGCTG	0.473																																																	0													124.0	122.0	122.0					2																	228243936		2203	4300	6503	SO:0001583	missense	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.49G>T	2.37:g.228243936C>A	ENSP00000303028:p.Val17Phe		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	pfam_L6_membrane	p.V17F	ENST00000304568.3	37	c.49	CCDS2466.1	2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368602	0.42003	.	.	ENSG00000168955	ENST00000304568	T	0.31510	1.49	5.77	-0.414	0.12359	.	0.752361	0.12105	N	0.499152	T	0.29061	0.0722	M	0.72118	2.19	0.26977	N	0.965442	B	0.32653	0.379	B	0.33690	0.168	T	0.26538	-1.0100	10	0.56958	D	0.05	-5.1762	4.8059	0.13319	0.1515:0.3479:0.0:0.5005	.	17	Q53R12	T4S20_HUMAN	F	17	ENSP00000303028:V17F	ENSP00000303028:V17F	V	-	1	0	TM4SF20	227952180	0.013000	0.17824	0.339000	0.25562	0.021000	0.10359	-1.767000	0.01795	-0.143000	0.11334	0.591000	0.81541	GTT	TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.473	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2		0.00	51	0	C	NM_024795		228243936	-1			no_errors	ENST00000304568	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.657	A
TMEM8B	51754	genome.wustl.edu	37	9	35846965	35846965	+	Silent	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr9:35846965C>T	ENST00000377991.4	+	11	1807	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TMEM8B_ENST00000377988.2_Silent_p.V264V|TMEM8B_ENST00000439587.2_Silent_p.V264V|TMEM8B_ENST00000377996.1_Silent_p.V264V	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	264					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AAGCTGCAGTCTACACCTTCA	0.542																																																	0													234.0	172.0	193.0					9																	35846965		2203	4300	6503	SO:0001819	synonymous_variant	0			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.792C>T	9.37:g.35846965C>T			B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	pfam_DUF3522	p.V264	ENST00000377991.4	37	c.792	CCDS43800.1	9																																																																																			TMEM8B	-	pfam_DUF3522	ENSG00000137103		0.542	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2		0.00	66	0	C	NM_016446		35846965	+1			no_errors	ENST00000377988	ensembl	human	known	74_37	silent	15.53	87	16	SNP	1.000	T
TMTC1	83857	genome.wustl.edu	37	12	29812910	29812910	+	Intron	SNP	C	C	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr12:29812910C>A	ENST00000539277.1	-	6	997				TMTC1_ENST00000551659.1_Missense_Mutation_p.V343F|TMTC1_ENST00000381224.2_Missense_Mutation_p.V235F|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000552618.1_Missense_Mutation_p.V343F	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TACAAAATGACAAGCACCTTC	0.428																																																	0																																										SO:0001627	intron_variant	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.939-26641G>T	12.37:g.29812910C>A			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_DUF1736,pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V235F	ENST00000539277.1	37	c.703	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097087	0.37048	.	.	ENSG00000133687	ENST00000540901;ENST00000551659;ENST00000552618;ENST00000381224	T;T;T	0.69175	-0.13;-0.38;1.45	5.4	1.52	0.23074	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.09310	N	1	P;P	0.42203	0.773;0.741	B;B	0.35312	0.165;0.2	T	0.25047	-1.0143	7	.	.	.	.	5.6176	0.17440	0.0:0.6318:0.1477:0.2204	.	235;343	Q8IUR5-3;F8VTQ9	.;.	F	44;343;343;235	ENSP00000448112:V343F;ENSP00000449043:V343F;ENSP00000370622:V235F	.	V	-	1	0	TMTC1	29704177	0.123000	0.22298	0.000000	0.03702	0.518000	0.34316	0.421000	0.21280	0.002000	0.14630	0.650000	0.86243	GTC	TMTC1	-	NULL	ENSG00000133687		0.428	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0.00	29	0	C	NM_031920		29812910	-1			no_errors	ENST00000381224	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.003	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	54	0	G	NM_000546		7577539	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	A
TRIM2	23321	genome.wustl.edu	37	4	154215568	154215568	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:154215568G>T	ENST00000437508.2	+	5	837	c.636G>T	c.(634-636)caG>caT	p.Q212H	TRIM2_ENST00000338700.5_Missense_Mutation_p.Q239H|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	212					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ATGAGCTCCAGAAGACTTTAA	0.423																																																	0													144.0	126.0	132.0					4																	154215568		2203	4300	6503	SO:0001583	missense	0			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.636G>T	4.37:g.154215568G>T	ENSP00000415812:p.Gln212His		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q239H	ENST00000437508.2	37	c.717	CCDS47147.1	4	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074553	0.55646	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.69561	-0.4;-0.41	6.17	6.17	0.99709	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	N	0.22421	0.69	0.80722	D	1	P;P	0.39964	0.697;0.697	B;B	0.41691	0.364;0.364	T	0.58763	-0.7579	10	0.40728	T	0.16	-0.2006	20.8794	0.99867	0.0:0.0:1.0:0.0	.	239;212	D3DP09;Q9C040	.;TRIM2_HUMAN	H	212;239	ENSP00000415812:Q212H;ENSP00000339659:Q239H	ENSP00000339659:Q239H	Q	+	3	2	TRIM2	154435018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.341000	0.65964	2.941000	0.99782	0.655000	0.94253	CAG	TRIM2	-	smart_Bbox_C	ENSG00000109654		0.423	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1		0.00	42	0	G			154215568	+1			no_errors	ENST00000338700	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TRPC6	7225	genome.wustl.edu	37	11	101374848	101374848	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr11:101374848A>G	ENST00000344327.3	-	2	1276	c.852T>C	c.(850-852)gcT>gcC	p.A284A	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Silent_p.A284A|TRPC6_ENST00000532133.1_Silent_p.A284A|TRPC6_ENST00000348423.4_Silent_p.A284A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	284					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGACAGGTAAGCCGGACTTG	0.448																																					Colon(166;1315 1927 11094 12848 34731)												0													161.0	160.0	160.0					11																	101374848		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.852T>C	11.37:g.101374848A>G			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A284	ENST00000344327.3	37	c.852	CCDS8311.1	11																																																																																			TRPC6	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000137672		0.448	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1		0.00	49	0	A	NM_004621		101374848	-1			no_errors	ENST00000344327	ensembl	human	known	74_37	silent	27.87	44	17	SNP	0.914	G
TTC39A	22996	genome.wustl.edu	37	1	51755785	51755785	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr1:51755785T>G	ENST00000447632.2	-	16	1541	c.1493A>C	c.(1492-1494)gAg>gCg	p.E498A	TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.E435A|TTC39A_ENST00000413473.2_Missense_Mutation_p.E466A|TTC39A_ENST00000530004.1_Missense_Mutation_p.E106A|TTC39A_ENST00000371750.5_Missense_Mutation_p.E463A|TTC39A_ENST00000451380.1_Missense_Mutation_p.E462A			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	498								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CACTGAGTACTCGTTCTCTGA	0.478																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											51.0	47.0	48.0					1																	51755785		1882	4127	6009	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1493A>C	1.37:g.51755785T>G	ENSP00000393952:p.Glu498Ala		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.E498A	ENST00000447632.2	37	c.1493		1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990643	0.93106	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.089290	0.85682	D	0.000000	T	0.57562	0.2062	M	0.69185	2.1	0.80722	D	1	P;P;P;P;P	0.50943	0.593;0.815;0.873;0.815;0.94	B;P;P;P;P	0.53722	0.187;0.61;0.731;0.733;0.611	T	0.53760	-0.8393	10	0.15066	T	0.55	-32.7544	15.2818	0.73790	0.0:0.0:0.0:1.0	.	466;462;435;498;463	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	A	106;498;466;435;462;463;106	ENSP00000431228:E106A;ENSP00000393952:E498A;ENSP00000406144:E466A;ENSP00000262675:E435A;ENSP00000397207:E462A;ENSP00000360815:E463A	ENSP00000262675:E435A	E	-	2	0	TTC39A	51528373	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.299000	0.65716	2.288000	0.76882	0.482000	0.46254	GAG	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.478	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0.00	20	0	T			51755785	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179605401	179605401	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr2:179605401T>C	ENST00000591111.1	-	46	11832	c.11608A>G	c.(11608-11610)Agt>Ggt	p.S3870G	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3824G|TTN_ENST00000359218.5_Missense_Mutation_p.S3949G|TTN_ENST00000342175.6_Missense_Mutation_p.S4016G|TTN_ENST00000589042.1_Missense_Mutation_p.S4187G|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGGCACTTGGGAAGATT	0.403																																																	0													80.0	78.0	78.0					2																	179605401		1853	4098	5951	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11608A>G	2.37:g.179605401T>C	ENSP00000465570:p.Ser3870Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S4016G	ENST00000591111.1	37	c.12046		2	.	.	.	.	.	.	.	.	.	.	T	4.460	0.085300	0.08583	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60171	0.24;0.21;0.21	5.51	1.47	0.22746	.	.	.	.	.	T	0.33760	0.0874	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25847	-1.0120	9	0.87932	D	0	.	5.9324	0.19146	0.0:0.273:0.2435:0.4835	.	3824;3949;4016	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3824;4016;3949;3824	ENSP00000434586:S3824G;ENSP00000340554:S4016G;ENSP00000352154:S3949G	ENSP00000340554:S4016G	S	-	1	0	TTN	179313646	0.340000	0.24792	0.465000	0.27155	0.218000	0.24690	1.317000	0.33631	0.403000	0.25479	0.533000	0.62120	AGT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	44	0	T	NM_133378		179605401	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.014	C
TTPA	7274	genome.wustl.edu	37	8	63976767	63976767	+	Missense_Mutation	SNP	G	G	A	rs35916840	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr8:63976767G>A	ENST00000260116.4	-	4	692	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	221	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.		R -> W (in AVED; dbSNP:rs35916840). {ECO:0000269|PubMed:9463307}.		embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTACTCACCCGTTCCTTAATT	0.368																																																	0			GRCh37	CM981967	TTPA	M	rs35916840						84.0	83.0	84.0					8																	63976767		2203	4300	6503	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.661C>T	8.37:g.63976767G>A	ENSP00000260116:p.Arg221Trp		Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R221W	ENST00000260116.4	37	c.661	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936781	0.52972	.	.	ENSG00000137561	ENST00000260116	D	0.87650	-2.28	5.21	5.21	0.72293	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96768	0.9566	10	0.87932	D	0	.	18.7645	0.91866	0.0:0.0:1.0:0.0	rs35916840	221	P49638	TTPA_HUMAN	W	221	ENSP00000260116:R221W	ENSP00000260116:R221W	R	-	1	2	TTPA	64139321	1.000000	0.71417	0.943000	0.38184	0.151000	0.21798	3.961000	0.56759	2.433000	0.82419	0.591000	0.81541	CGG	TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000137561		0.368	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1		0.00	56	0	G	NM_000370		63976767	-1			no_errors	ENST00000260116	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.997	A
TUBGCP3	10426	genome.wustl.edu	37	13	113140382	113140382	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr13:113140382G>A	ENST00000261965.3	-	22	2835	c.2649C>T	c.(2647-2649)aaC>aaT	p.N883N		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	883					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGTAATGCTCGTTGAAGTCCA	0.567																																																	0													30.0	25.0	27.0					13																	113140382		2203	4298	6501	SO:0001819	synonymous_variant	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2649C>T	13.37:g.113140382G>A			O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	pfam_TUBGCP	p.N883	ENST00000261965.3	37	c.2649	CCDS9525.1	13																																																																																			TUBGCP3	-	NULL	ENSG00000126216		0.567	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2		0.00	40	0	G	NM_006322		113140382	-1			no_errors	ENST00000261965	ensembl	human	known	74_37	silent	47.22	19	17	SNP	0.294	A
TUBGCP4	27229	genome.wustl.edu	37	15	43678414	43678414	+	Silent	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr15:43678414G>A	ENST00000260383.7	+	9	1154	c.900G>A	c.(898-900)ttG>ttA	p.L300L	TUBGCP4_ENST00000564079.1_Silent_p.L300L|TUBGCP4_ENST00000399460.3_Silent_p.L164L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	300					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATCCATTTTGAAAAACCAGG	0.517																																																	0													79.0	73.0	75.0					15																	43678414		1886	4120	6006	SO:0001819	synonymous_variant	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.900G>A	15.37:g.43678414G>A			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_TUBGCP	p.L300	ENST00000260383.7	37	c.900		15																																																																																			TUBGCP4	-	pfam_TUBGCP	ENSG00000137822		0.517	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1		0.00	37	0	G	NM_014444		43678414	+1			no_errors	ENST00000260383	ensembl	human	known	74_37	silent	16.67	30	6	SNP	1.000	A
UQCRFS1	7386	genome.wustl.edu	37	19	29698831	29698831	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:29698831G>A	ENST00000304863.4	-	2	871	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	150					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTCGATTTTCGCCAGGGCCAA	0.483																																																	0													30.0	30.0	30.0					19																	29698831		2202	4276	6478	SO:0001583	missense	0			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.449C>T	19.37:g.29698831G>A	ENSP00000306397:p.Ala150Val		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.A150V	ENST00000304863.4	37	c.449	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659859	0.47572	.	.	ENSG00000169021	ENST00000304863	T	0.60040	0.22	5.42	3.28	0.37604	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.105699	0.64402	D	0.000002	T	0.79185	0.4403	H	0.98111	4.15	0.38340	D	0.944034	D	0.56035	0.974	P	0.55391	0.775	D	0.83997	0.0341	10	0.87932	D	0	.	9.3868	0.38347	0.075:0.0:0.7807:0.1443	.	150	P47985	UCRI_HUMAN	V	150	ENSP00000306397:A150V	ENSP00000306397:A150V	A	-	2	0	UQCRFS1	34390671	1.000000	0.71417	0.997000	0.53966	0.044000	0.14063	5.359000	0.66074	0.643000	0.30638	0.462000	0.41574	GCG	UQCRFS1	-	superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	ENSG00000169021		0.483	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1		0.00	63	0	G	NM_006003		29698831	-1			no_errors	ENST00000304863	ensembl	human	known	74_37	missense	24.68	58	19	SNP	1.000	A
USP38	84640	genome.wustl.edu	37	4	144134913	144134913	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr4:144134913G>A	ENST00000307017.4	+	9	2290	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	USP38_ENST00000510377.1_Missense_Mutation_p.R595Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	595	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGAAAACTACGAACTCACATA	0.413																																																	0													85.0	81.0	83.0					4																	144134913		2203	4300	6503	SO:0001583	missense	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1784G>A	4.37:g.144134913G>A	ENSP00000303434:p.Arg595Gln		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R595Q	ENST00000307017.4	37	c.1784	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	9.002	0.980273	0.18812	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.30448	1.53;1.53	5.63	-3.01	0.05463	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.781815	0.12069	N	0.502438	T	0.14141	0.0342	N	0.11651	0.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33317	-0.9873	10	0.13470	T	0.59	-17.7906	13.2453	0.60020	0.8105:0.0:0.1895:0.0	.	595;595	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	Q	595	ENSP00000427647:R595Q;ENSP00000303434:R595Q	ENSP00000303434:R595Q	R	+	2	0	USP38	144354363	0.345000	0.24835	0.721000	0.30653	0.902000	0.53008	0.283000	0.18846	-0.488000	0.06726	-0.225000	0.12378	CGA	USP38	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000170185		0.413	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1		0.00	20	0	G	NM_032557		144134913	+1			no_errors	ENST00000307017	ensembl	human	known	74_37	missense	44.00	14	11	SNP	0.089	A
VIM-AS1	100507347	genome.wustl.edu	37	10	17256594	17256594	+	RNA	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr10:17256594A>G	ENST00000437232.1	-	0	994				VIM-AS1_ENST00000605833.1_RNA					VIM antisense RNA 1																		TCTCTTACACATCCTGAATCT	0.363																																																	0													149.0	123.0	131.0					10																	17256594		692	1591	2283			0			BC078172		10p13	2012-12-11			ENSG00000229124	ENSG00000229124		"""Long non-coding RNAs"""	44879	non-coding RNA	RNA, long non-coding							Standard	NR_108060		Approved				OTTHUMG00000017743		10.37:g.17256594A>G				RNA	SNP	-	NULL	ENST00000437232.1	37	NULL		10																																																																																			VIM-AS1	-	-	ENSG00000229124		0.363	VIM-AS1-001	KNOWN	basic	antisense	VIM-AS1	HGNC	antisense	OTTHUMT00000047014.1		0.00	19	0	A			17256594	-1			no_errors	ENST00000437232	ensembl	human	known	74_37	rna	31.25	22	10	SNP	0.000	G
ZC3H7A	29066	genome.wustl.edu	37	16	11876195	11876195	+	Missense_Mutation	SNP	C	C	T	rs368731907		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr16:11876195C>T	ENST00000396516.2	-	1	213	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E6K|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	6						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTCTCTCCTCGGACACATTG	0.438																																																	0								C	LYS/GLU	0,4394		0,0,2197	240.0	206.0	217.0		16	4.3	1.0	16		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H7A	NM_014153.3	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	6/972	11876195	1,12993	2197	4300	6497	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.16G>A	16.37:g.11876195C>T	ENSP00000379773:p.Glu6Lys		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E6K	ENST00000396516.2	37	c.16	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283955	0.59867	0.0	1.16E-4	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09445	2.98;2.98	5.28	4.29	0.51040	.	0.266407	0.44285	D	0.000471	T	0.06600	0.0169	L	0.34521	1.04	0.80722	D	1	P	0.36412	0.552	B	0.27608	0.081	T	0.41627	-0.9498	10	0.19590	T	0.45	.	8.6127	0.33813	0.0:0.7654:0.1546:0.08	.	6	Q8IWR0	Z3H7A_HUMAN	K	6	ENSP00000347999:E6K;ENSP00000379773:E6K	ENSP00000347999:E6K	E	-	1	0	ZC3H7A	11783696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.506000	0.53364	1.291000	0.44653	0.491000	0.48974	GAG	ZC3H7A	-	NULL	ENSG00000122299		0.438	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1		0.00	39	0	C	NM_014153		11876195	-1			no_errors	ENST00000355758	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
ZCCHC12	170261	genome.wustl.edu	37	X	117959408	117959408	+	Silent	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chrX:117959408A>G	ENST00000310164.2	+	4	708	c.201A>G	c.(199-201)caA>caG	p.Q67Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	67					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggctgacccaagtcaatggcg	0.542																																																	0													69.0	69.0	69.0					X																	117959408		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.201A>G	X.37:g.117959408A>G			B3KV48|Q6PID5|Q8N1C1	Silent	SNP	superfamily_Znf_CCHC	p.Q67	ENST00000310164.2	37	c.201	CCDS14574.1	X																																																																																			ZCCHC12	-	NULL	ENSG00000174460		0.542	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1		0.00	14	0	A	NM_173798		117959408	+1			no_errors	ENST00000310164	ensembl	human	known	74_37	silent	85.71	2	12	SNP	0.999	G
ZIC1	7545	genome.wustl.edu	37	3	147128873	147128873	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr3:147128873C>T	ENST00000282928.4	+	1	1703	c.974C>T	c.(973-975)aCg>aTg	p.T325M		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	325					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACAAAAGGACGCACACAGGT	0.602																																																	0													42.0	44.0	43.0					3																	147128873		2203	4300	6503	SO:0001583	missense	0			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.974C>T	3.37:g.147128873C>T	ENSP00000282928:p.Thr325Met		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T325M	ENST00000282928.4	37	c.974	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777675	0.70107	.	.	ENSG00000152977	ENST00000282928	T	0.20332	2.08	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.74389	2.26	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.55522	-0.8128	10	0.87932	D	0	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	325	Q15915	ZIC1_HUMAN	M	325	ENSP00000282928:T325M	ENSP00000282928:T325M	T	+	2	0	ZIC1	148611563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.544000	0.82117	1.862000	0.54008	0.561000	0.74099	ACG	ZIC1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152977		0.602	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1		0.00	33	0	C	NM_003412		147128873	+1			no_errors	ENST00000282928	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	T
ZNF208	7757	genome.wustl.edu	37	19	22155194	22155194	+	Missense_Mutation	SNP	T	T	A	rs572727442	byFrequency	TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:22155194T>A	ENST00000397126.4	-	4	2790	c.2642A>T	c.(2641-2643)aAa>aTa	p.K881I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTTTCTTATGATA	0.368													N|||	3	0.000599042	0.0008	0.0014	5008	,	,		21191	0.0		0.0	False		,,,				2504	0.001																0													41.0	44.0	43.0					19																	22155194		2041	4205	6246	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2642A>T	19.37:g.22155194T>A	ENSP00000380315:p.Lys881Ile			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.K881I	ENST00000397126.4	37	c.2642	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	7.478	0.648054	0.14516	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.24151	1.87	2.58	-5.16	0.02857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18635	0.0447	.	.	.	0.09310	N	1	B	0.29270	0.24	B	0.37550	0.253	T	0.42649	-0.9439	8	0.51188	T	0.08	.	4.1677	0.10315	0.1526:0.4064:0.0:0.441	.	781	O43345	ZN208_HUMAN	I	881;781	ENSP00000380315:K881I	ENSP00000380315:K881I	K	-	2	0	ZNF208	21947034	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.627000	0.00410	-0.954000	0.03640	-0.804000	0.03201	AAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0.00	27	0	T	NM_007153		22155194	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	43.48	13	10	SNP	0.000	A
ZNF347	84671	genome.wustl.edu	37	19	53644629	53644629	+	Silent	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53644629A>C	ENST00000334197.7	-	5	1520	c.1452T>G	c.(1450-1452)ccT>ccG	p.P484P	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.P485P|ZNF347_ENST00000452676.2_Silent_p.P485P	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	484					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TACACTTATAAGGTTTCTCTC	0.413																																					Melanoma(64;205 1597 17324 45721)												0													144.0	143.0	143.0					19																	53644629		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1452T>G	19.37:g.53644629A>C			B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	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.P485	ENST00000334197.7	37	c.1455	CCDS33097.1	19																																																																																			ZNF347	-	pfscan_Znf_C2H2	ENSG00000197937		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1		0.00	68	0	A	NM_032584		53644629	-1			no_errors	ENST00000452676	ensembl	human	known	74_37	silent	26.21	76	27	SNP	0.027	C
ZNF354A	6940	genome.wustl.edu	37	5	178140243	178140243	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr5:178140243T>G	ENST00000335815.2	-	5	833	c.636A>C	c.(634-636)aaA>aaC	p.K212N		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	212					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATTTATAGCGTTTATCTGCTG	0.333																																																	0													220.0	211.0	214.0					5																	178140243		2202	4300	6502	SO:0001583	missense	0			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.636A>C	5.37:g.178140243T>G	ENSP00000337122:p.Lys212Asn		Q9UNJ8	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.K212N	ENST00000335815.2	37	c.636	CCDS4438.1	5	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695204	0.30052	.	.	ENSG00000169131	ENST00000335815	T	0.40476	1.03	4.64	0.64	0.17752	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003966	T	0.49745	0.1575	M	0.75615	2.305	0.35545	D	0.803377	D	0.63880	0.993	P	0.53954	0.738	T	0.59252	-0.7489	10	0.87932	D	0	-24.233	7.1026	0.25346	0.0:0.3514:0.0:0.6486	.	212	O60765	Z354A_HUMAN	N	212	ENSP00000337122:K212N	ENSP00000337122:K212N	K	-	3	2	ZNF354A	178072849	1.000000	0.71417	0.892000	0.35008	0.575000	0.36095	1.170000	0.31883	0.016000	0.14998	0.533000	0.62120	AAA	ZNF354A	-	NULL	ENSG00000169131		0.333	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354A	HGNC	protein_coding	OTTHUMT00000253481.1		0.00	149	0	T	NM_005649		178140243	-1			no_errors	ENST00000335815	ensembl	human	known	74_37	missense	30.61	136	60	SNP	1.000	G
ZNF559	84527	genome.wustl.edu	37	19	9449168	9449168	+	Splice_Site	SNP	A	A	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:9449168A>G	ENST00000393883.2	+	3	592		c.e3-1		ZNF559_ENST00000587557.1_Splice_Site|ZNF559_ENST00000317221.7_Splice_Site|ZNF559_ENST00000603380.1_Splice_Site|ZNF559_ENST00000592504.1_Splice_Site|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Splice_Site|ZNF559_ENST00000586255.1_Splice_Site|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Splice_Site|ZNF559_ENST00000585352.1_Splice_Site|ZNF177_ENST00000602738.1_Splice_Site	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTTCTTCTTAAGATCATCTTT	0.408																																																	0													171.0	156.0	161.0					19																	9449168		692	1591	2283	SO:0001630	splice_region_variant	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.-56-1A>G	19.37:g.9449168A>G			K7EMG6	Splice_Site	SNP	-	e1-2	ENST00000393883.2	37	c.1-2	CCDS12211.1	19																																																																																			ZNF559	-	-	ENSG00000188321		0.408	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1		0.00	49	0	A	NM_032497	Intron	9449168	+1			no_errors	ENST00000393883	ensembl	human	known	74_37	splice_site	42.11	33	24	SNP	0.001	G
ZNF491	126069	genome.wustl.edu	37	19	11917123	11917123	+	Nonsense_Mutation	SNP	C	C	T	rs139779307		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:11917123C>T	ENST00000323169.5	+	3	686	c.355C>T	c.(355-357)Cga>Tga	p.R119*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TGCAAGCATTCGAAGATATAT	0.403																																																	0								C	stop/ARG	0,4406		0,0,2203	83.0	83.0	83.0		355	-1.8	0.0	19	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	ZNF491	NM_152356.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		119/438	11917123	2,13004	2203	4300	6503	SO:0001587	stop_gained	0			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.355C>T	19.37:g.11917123C>T	ENSP00000313443:p.Arg119*		Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R119*	ENST00000323169.5	37	c.355	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	7.261	0.605151	0.14002	0.0	2.33E-4	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	.	.	.	0.914	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	1.3642	0.02197	0.2035:0.2317:0.4037:0.1611	.	.	.	.	X	119	.	ENSP00000313443:R119X	R	+	1	2	ZNF491	11778123	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.370000	0.01075	-0.578000	0.05959	-1.724000	0.00704	CGA	ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177599		0.403	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1		0.00	34	0	C	NM_152356		11917123	+1			no_errors	ENST00000323169	ensembl	human	known	74_37	nonsense	60.00	20	30	SNP	0.008	T
ZNF600	162966	genome.wustl.edu	37	19	53270131	53270131	+	Missense_Mutation	SNP	C	C	T	rs375256564		TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53270131C>T	ENST00000338230.3	-	3	1145	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATGAATTCTACGATGACGTGC	0.368																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0								C	HIS/ARG	0,4406		0,0,2203	80.0	80.0	80.0		878	-3.1	0.0	19		80	1,8599		0,1,4299	no	missense	ZNF600	NM_198457.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	293/723	53270131	1,13005	2203	4300	6503	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.878G>A	19.37:g.53270131C>T	ENSP00000344791:p.Arg293His		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R293H	ENST00000338230.3	37	c.878	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	0.361	-0.939407	0.02322	0.0	1.16E-4	ENSG00000189190	ENST00000338230	T	0.18502	2.21	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.45698	1.435	0.19945	N	0.999942	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	9	0.40728	T	0.16	.	2.8049	0.05425	0.376:0.1348:0.0:0.4892	.	293	Q6ZNG1	ZN600_HUMAN	H	293	ENSP00000344791:R293H	ENSP00000344791:R293H	R	-	2	0	ZNF600	57961943	0.000000	0.05858	0.005000	0.12908	0.107000	0.19398	-2.989000	0.00658	-1.908000	0.01086	-0.856000	0.03024	CGT	ZNF600	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1		0.00	73	0	C	NM_198457		53270131	-1			no_errors	ENST00000338230	ensembl	human	known	74_37	missense	32.43	75	36	SNP	0.981	T
ZNF763	284390	genome.wustl.edu	37	19	12089019	12089019	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:12089019T>G	ENST00000358987.3	+	4	407	c.280T>G	c.(280-282)Ttc>Gtc	p.F94V	ZNF763_ENST00000590798.1_Missense_Mutation_p.F114V|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.F114V|ZNF763_ENST00000343949.5_Missense_Mutation_p.F97V|ZNF763_ENST00000592625.1_3'UTR			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CAGGCTGAACTTCCAGGAGAA	0.393																																																	0													119.0	124.0	122.0					19																	12089019		2203	4300	6503	SO:0001583	missense	0			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.280T>G	19.37:g.12089019T>G	ENSP00000402017:p.Phe94Val		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F114V	ENST00000358987.3	37	c.340		19	.	.	.	.	.	.	.	.	.	.	t	6.462	0.453369	0.12283	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.04970	3.54;3.52;3.52	0.824	0.824	0.18818	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.27119	N	0.962187	D;D;P	0.57899	0.981;0.981;0.945	D;D;P	0.69142	0.962;0.954;0.765	T	0.35624	-0.9781	9	0.16896	T	0.51	.	3.7153	0.08435	0.0:0.0:0.0:1.0	.	114;94;97	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	V	114;97;94	ENSP00000438117:F114V;ENSP00000369774:F97V;ENSP00000402017:F94V	ENSP00000369774:F97V	F	+	1	0	ZNF763	11950019	0.002000	0.14202	0.045000	0.18777	0.194000	0.23727	0.310000	0.19356	0.166000	0.19597	0.164000	0.16699	TTC	ZNF763	-	NULL	ENSG00000197054		0.393	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1		0.00	40	0	T	NM_001012753		12089019	+1			no_errors	ENST00000538752	ensembl	human	known	74_37	missense	51.52	32	34	SNP	0.358	G
ZNF93	81931	genome.wustl.edu	37	19	20045515	20045515	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:20045515A>C	ENST00000343769.5	+	4	1779	c.1751A>C	c.(1750-1752)aAg>aCg	p.K584T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCTTCACATAAGAAAATCCAT	0.383																																																	0													60.0	66.0	64.0					19																	20045515		2203	4300	6503	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1751A>C	19.37:g.20045515A>C	ENSP00000342002:p.Lys584Thr		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	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.K584T	ENST00000343769.5	37	c.1751	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	11.93	1.786091	0.31593	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.51817	0.69	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26412	0.0645	N	0.11284	0.12	0.21897	N	0.999484	P	0.52061	0.95	B	0.42361	0.385	T	0.12066	-1.0562	9	0.72032	D	0.01	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	584	P35789	ZNF93_HUMAN	T	584;556	ENSP00000342002:K584T	ENSP00000342002:K584T	K	+	2	0	ZNF93	19906515	0.000000	0.05858	0.122000	0.21767	0.121000	0.20230	-0.401000	0.07232	0.166000	0.19597	0.164000	0.16699	AAG	ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.383	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2		0.00	76	0	A	NM_031218		20045515	+1			no_errors	ENST00000343769	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.998	C
ZNF677	342926	genome.wustl.edu	37	19	53741076	53741076	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr19:53741076G>T	ENST00000598513.1	-	5	1054	c.904C>A	c.(904-906)Cag>Aag	p.Q302K	ZNF677_ENST00000333952.4_Missense_Mutation_p.Q302K|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTCGAACACTGGTTAAAGGCT	0.408																																																	0													120.0	110.0	113.0					19																	53741076		2203	4300	6503	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.904C>A	19.37:g.53741076G>T	ENSP00000469391:p.Gln302Lys			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.Q302K	ENST00000598513.1	37	c.904	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823135	0.32237	.	.	ENSG00000197928	ENST00000333952	T	0.35421	1.31	2.2	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.631969	0.12359	N	0.475872	T	0.22666	0.0547	N	0.25245	0.725	0.09310	N	1	B	0.31256	0.316	B	0.29942	0.109	T	0.16778	-1.0391	10	0.49607	T	0.09	.	8.0868	0.30777	0.0:0.0:0.7578:0.2422	.	302	Q86XU0	ZN677_HUMAN	K	302	ENSP00000334394:Q302K	ENSP00000334394:Q302K	Q	-	1	0	ZNF677	58432888	0.000000	0.05858	0.001000	0.08648	0.848000	0.48234	-1.561000	0.02158	0.478000	0.27488	0.650000	0.86243	CAG	ZNF677	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197928		0.408	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1		0.00	47	0	G	NM_182609		53741076	-1			no_errors	ENST00000333952	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.000	T
ZSWIM3	140831	genome.wustl.edu	37	20	44505670	44505670	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6KZ-01A-11D-A31U-09	TCGA-R6-A6KZ-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f717602-cfc7-4f44-993c-c6720e73bd58	82845513-d7b1-4105-9755-79715706372e	g.chr20:44505670C>T	ENST00000255152.2	+	2	682	c.473C>T	c.(472-474)tCc>tTc	p.S158F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S152F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	158							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTACAAGTGTCCTCAAAGCCA	0.498																																																	0													138.0	111.0	120.0					20																	44505670		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.473C>T	20.37:g.44505670C>T	ENSP00000255152:p.Ser158Phe		Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.S158F	ENST00000255152.2	37	c.473	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163271	0.06502	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.24538	1.89;1.85	5.49	3.39	0.38822	.	0.497073	0.20654	N	0.088155	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B;B	0.25521	0.128;0.054	B;B	0.21546	0.035;0.015	T	0.30794	-0.9966	10	0.09843	T	0.71	-14.4085	6.374	0.21497	0.1809:0.6954:0.0:0.1237	.	152;158	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	F	158;152	ENSP00000255152:S158F;ENSP00000406313:S152F	ENSP00000255152:S158F	S	+	2	0	ZSWIM3	43939077	0.003000	0.15002	0.278000	0.24718	0.188000	0.23474	0.628000	0.24522	1.510000	0.48803	0.655000	0.94253	TCC	ZSWIM3	-	NULL	ENSG00000132801		0.498	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1		0.00	20	0	C	NM_080752		44505670	+1			no_errors	ENST00000255152	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.011	T
