#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
ADAM28	10863	genome.wustl.edu	37	8	24181426	24181426	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:24181426C>T	ENST00000265769.4	+	9	910	c.800C>T	c.(799-801)cCa>cTa	p.P267L	ADAM28_ENST00000397649.3_Missense_Mutation_p.P14L|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.P267L|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.P34L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	267	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATAACCCCAAATGCAAGC	0.383																																					NSCLC(193;488 2149 22258 34798 40734)												0													108.0	109.0	109.0					8																	24181426		2203	4299	6502	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.800C>T	8.37:g.24181426C>T	ENSP00000265769:p.Pro267Leu		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P267L	ENST00000265769.4	37	c.800	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569761	0.45798	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.41	5.41	0.78517	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.71634	0.3363	L	0.49455	1.56	0.49798	D	0.99982	D;D;D	0.65815	0.988;0.995;0.986	D;D;D	0.65443	0.93;0.935;0.913	T	0.67776	-0.5583	9	0.29301	T	0.29	.	14.701	0.69157	0.0:1.0:0.0:0.0	.	34;267;267	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	L	267;14;34;267	ENSP00000265769:P267L;ENSP00000380770:P14L;ENSP00000443743:P34L;ENSP00000393699:P267L	ENSP00000265769:P267L	P	+	2	0	ADAM28	24237371	0.005000	0.15991	0.837000	0.33122	0.063000	0.16089	2.083000	0.41615	2.532000	0.85374	0.650000	0.86243	CCA	ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000042980		0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0.00	48	0	C	NM_021778		24181426	+1	tier1	-	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.637	T
ALK	238	genome.wustl.edu	37	2	29416625	29416626	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:29416625_29416626GG>AC	ENST00000389048.3	-	29	5233_5234	c.4327_4328CC>GT	c.(4327-4329)CCt>GTt	p.P1443V	ALK_ENST00000431873.1_Missense_Mutation_p.P273V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1443					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGTAGGCAGAGGTGGTGGGGCA	0.629			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0																																										SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4327_4328delinsAC	2.37:g.29416625_29416626delinsAC	ENSP00000373700:p.Pro1443Val		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P1443L|p.P1443A	ENST00000389048.3	37	c.4328|c.4327	CCDS33172.1	2																																																																																			ALK	-	NULL	ENSG00000171094		0.629	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0.00	45|42	0	G	NM_004304		29416625|29416626	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	7.94|8.06	58|57	5	SNP	0.257|0.161	A|C
ANKRD30BP2	149992	genome.wustl.edu	37	21	14417863	14417863	+	RNA	SNP	G	G	T	rs9968011		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr21:14417863G>T	ENST00000507941.1	+	0	475				RNU6-614P_ENST00000384369.1_RNA					ankyrin repeat domain 30B pseudogene 2																		AGCTAAAGTGGTTCTGTATTA	0.244																																																	0																																												0			AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14417863G>T				RNA	SNP	-	NULL	ENST00000507941.1	37	NULL		21																																																																																			ANKRD30BP2	-	-	ENSG00000224309		0.244	ANKRD30BP2-004	KNOWN	basic	processed_transcript	ANKRD30BP2	HGNC	pseudogene	OTTHUMT00000372094.1	-	0.00	8	0	G	NR_026916		14417863	+1	tier1	rs9968011	no_errors	ENST00000507941	ensembl	human	known	74_37	rna	60.00	4	6	SNP	0.014	T
ANKRD36	375248	genome.wustl.edu	37	2	97830141	97830141	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:97830141T>C	ENST00000461153.2	+	20	1710	c.1466T>C	c.(1465-1467)gTg>gCg	p.V489A	ANKRD36_ENST00000420699.2_Missense_Mutation_p.V489A			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	489										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAGCATACGGTGAAAGACAGA	0.318																																																	0													122.0	81.0	94.0					2																	97830141		692	1590	2282	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1466T>C	2.37:g.97830141T>C	ENSP00000419530:p.Val489Ala		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V489A	ENST00000461153.2	37	c.1466	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.311559	0.00237	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.19250	2.16;2.16	0.945	-0.302	0.12796	.	.	.	.	.	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.23716	0.048	T	0.23190	-1.0195	9	0.56958	D	0.05	.	2.9142	0.05746	0.0:0.3173:0.0:0.6827	.	489	A6QL64	AN36A_HUMAN	A	489	ENSP00000419530:V489A;ENSP00000391950:V489A	ENSP00000391950:V489A	V	+	2	0	ANKRD36	97193868	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.373000	0.07494	-0.108000	0.12066	0.155000	0.16302	GTG	ANKRD36	-	NULL	ENSG00000135976		0.318	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0.00	148	0	T			97830141	+1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	6.53	186	13	SNP	0.000	C
ANKS6	203286	genome.wustl.edu	37	9	101542596	101542596	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:101542596C>G	ENST00000353234.4	-	6	1290	c.1243G>C	c.(1243-1245)Gca>Cca	p.A415P	ANKS6_ENST00000375019.2_Missense_Mutation_p.A114P|ANKS6_ENST00000540940.1_Missense_Mutation_p.A220P|ANKS6_ENST00000375018.1_Missense_Mutation_p.A415P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	415						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGACAGATGCCAGCAGTCGA	0.542																																																	0													30.0	33.0	32.0					9																	101542596		1950	4159	6109	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1243G>C	9.37:g.101542596C>G	ENSP00000297837:p.Ala415Pro		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A415P	ENST00000353234.4	37	c.1243	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.203915	0.95033	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.34667	1.35;1.35;1.35;1.83	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.59658	-0.7413	10	0.62326	D	0.03	-13.8929	17.887	0.88858	0.0:1.0:0.0:0.0	.	415	Q68DC2	ANKS6_HUMAN	P	114;415;415;220	ENSP00000364159:A114P;ENSP00000364158:A415P;ENSP00000297837:A415P;ENSP00000442189:A220P	ENSP00000297837:A415P	A	-	1	0	ANKS6	100582417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.824000	0.97209	0.655000	0.94253	GCA	ANKS6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.542	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	-	0.00	60	0	C	NM_173551		101542596	-1	tier1	-	no_errors	ENST00000375018	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	G
ARF4	378	genome.wustl.edu	37	3	57563091	57563092	+	Frame_Shift_Ins	INS	-	-	CGAT			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:57563091_57563092insCGAT	ENST00000303436.6	-	4	548_549	c.281_282insATCG	c.(280-282)agcfs	p.-93fs	ARF4_ENST00000489843.1_5'UTR|ARF4_ENST00000496292.1_Frame_Shift_Ins_p.-66fs	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4						activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CACGATCGTTGCTATCTACCAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.281_282insATCG	3.37:g.57563091_57563092insCGAT	ENSP00000306010:p.Asp93fs		B2R7J7|P21371	Frame_Shift_Ins	INS	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S94fs	ENST00000303436.6	37	c.282_281	CCDS2884.1	3																																																																																			ARF4	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000168374		0.347	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF4	HGNC	protein_coding	OTTHUMT00000351443.1		0.00	50	0	-	NM_001660		57563092	-1	tier1		no_errors	ENST00000303436	ensembl	human	known	74_37	frame_shift_ins	32.35	23	11	INS	1.000:1.000	CGAT
ARHGAP5	394	genome.wustl.edu	37	14	32561049	32561049	+	Missense_Mutation	SNP	A	A	G	rs372981423		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:32561049A>G	ENST00000345122.3	+	2	1489	c.1174A>G	c.(1174-1176)Ata>Gta	p.I392V	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I392V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I392V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I392V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	392	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACTGACCATATAGACAAAAT	0.378																																					NSCLC(9;77 350 3443 29227 41353)												0								A	VAL/ILE,VAL/ILE	0,4402		0,0,2201	99.0	105.0	103.0		1174,1174	5.6	1.0	14		103	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ARHGAP5	NM_001030055.1,NM_001173.2	29,29	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	392/1503,392/1502	32561049	1,12993	2201	4296	6497	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1174A>G	14.37:g.32561049A>G	ENSP00000371897:p.Ile392Val		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.I392V	ENST00000345122.3	37	c.1174	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	7.638	0.680192	0.14907	0.0	1.16E-4	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.64	5.64	0.86602	FF domain (1);	0.089541	0.64402	D	0.000001	T	0.13372	0.0324	N	0.24115	0.695	0.48632	D	0.999683	B;B	0.30686	0.29;0.191	B;B	0.42462	0.388;0.217	T	0.26815	-1.0092	10	0.32370	T	0.25	.	15.8548	0.78968	1.0:0.0:0.0:0.0	.	392;392	Q13017-2;Q13017	.;RHG05_HUMAN	V	392	ENSP00000452222:I392V;ENSP00000441692:I392V;ENSP00000371897:I392V;ENSP00000393307:I392V	ENSP00000371897:I392V	I	+	1	0	ARHGAP5	31630800	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.144000	0.71762	2.138000	0.66242	0.460000	0.39030	ATA	ARHGAP5	-	smart_FF_domain	ENSG00000100852		0.378	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	21	0	A	NM_001030055		32561049	+1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	G
ARRDC1	92714	genome.wustl.edu	37	9	140508651	140508651	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:140508651G>A	ENST00000371421.4	+	5	667	c.603G>A	c.(601-603)gtG>gtA	p.V201V	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	201						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GCCCTGTGGTGGCCAGTCTGC	0.667																																																	0													74.0	75.0	75.0					9																	140508651		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.603G>A	9.37:g.140508651G>A				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.V201	ENST00000371421.4	37	c.603	CCDS7049.1	9																																																																																			ARRDC1	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000197070		0.667	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC1	HGNC	protein_coding	OTTHUMT00000055358.1	-	0.00	41	0	G	NM_152285		140508651	+1	tier1	-	no_errors	ENST00000371421	ensembl	human	known	74_37	silent	70.51	23	55	SNP	1.000	A
ASPSCR1	79058	genome.wustl.edu	37	17	79974398	79974398	+	Missense_Mutation	SNP	C	C	T	rs575908489	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:79974398C>T	ENST00000306739.4	+	13	1497	c.1400C>T	c.(1399-1401)cCg>cTg	p.P467L	ASPSCR1_ENST00000582404.1_3'UTR|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P415L|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P561L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	467					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCGAGGAGCCGGCAGGTGAG	0.721			T	TFE3	alveolar soft part sarcoma								C|||	2	0.000399361	0.0	0.0	5008	,	,		13777	0.0		0.0	False		,,,				2504	0.002							Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													21.0	24.0	23.0					17																	79974398		2055	4064	6119	SO:0001583	missense	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1400C>T	17.37:g.79974398C>T	ENSP00000302176:p.Pro467Leu		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG/UBX4,pfam_UBX,pfscan_UBX	p.P561L	ENST00000306739.4	37	c.1682	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	C	3.621	-0.077461	0.07184	.	.	ENSG00000169696	ENST00000306739;ENST00000306729	T;T	0.24723	1.84;1.88	3.76	3.76	0.43208	.	0.432776	0.23631	N	0.046123	T	0.44808	0.1311	M	0.75447	2.3	0.09310	N	1	D;D;D	0.71674	0.991;0.998;0.989	P;D;B	0.66497	0.53;0.944;0.32	T	0.21245	-1.0251	9	.	.	.	-6.4949	8.5412	0.33393	0.2304:0.7696:0.0:0.0	.	415;561;467	Q9BZE9-3;Q9BZE9-2;Q9BZE9	.;.;ASPC1_HUMAN	L	467;561	ENSP00000302176:P467L;ENSP00000306625:P561L	.	P	+	2	0	ASPSCR1	77567687	0.000000	0.05858	0.303000	0.25071	0.091000	0.18340	0.266000	0.18534	1.941000	0.56285	0.563000	0.77884	CCG	ASPSCR1	-	NULL	ENSG00000169696		0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	-	0.00	43	0	C	NM_024083		79974398	+1	tier1	-	no_errors	ENST00000306729	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.009	T
ATG2B	55102	genome.wustl.edu	37	14	96752289	96752289	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:96752289T>C	ENST00000359933.4	-	42	6933	c.6040A>G	c.(6040-6042)Act>Gct	p.T2014A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2014					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CGAGCCGCAGTTTCATAAATG	0.562																																																	0													41.0	39.0	40.0					14																	96752289		2203	4300	6503	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6040A>G	14.37:g.96752289T>C	ENSP00000353010:p.Thr2014Ala		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.T2014A	ENST00000359933.4	37	c.6040	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114331	0.77210	.	.	ENSG00000066739	ENST00000359933	T	0.09445	2.98	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	N	0.11927	0.2	0.53688	D	0.999976	D	0.76494	0.999	D	0.85130	0.997	T	0.20273	-1.0280	10	0.39692	T	0.17	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	2014	Q96BY7	ATG2B_HUMAN	A	2014	ENSP00000353010:T2014A	ENSP00000353010:T2014A	T	-	1	0	ATG2B	95822042	1.000000	0.71417	0.106000	0.21319	0.694000	0.40290	4.792000	0.62467	2.216000	0.71823	0.533000	0.62120	ACT	ATG2B	-	pfam_Autophagy-rel_C	ENSG00000066739		0.562	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	-	0.00	52	0	T	NM_018036		96752289	-1	tier1	-	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	54.55	30	36	SNP	0.997	C
B3GALT5	10317	genome.wustl.edu	37	21	40969634	40969634	+	Intron	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr21:40969634C>T	ENST00000380620.4	+	2	69				C21orf88_ENST00000380612.4_Silent_p.L145L|C21orf88_ENST00000489821.1_5'UTR			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				gagagagtcacagtgcaagag	0.577																																																	0													50.0	62.0	58.0					21																	40969634		692	1591	2283	SO:0001627	intron_variant	0			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.-523-7387C>T	21.37:g.40969634C>T			A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	NULL	p.L145	ENST00000380620.4	37	c.435	CCDS13667.1	21																																																																																			C21orf88	-	NULL	ENSG00000184809		0.577	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf88	HGNC	protein_coding	OTTHUMT00000195008.2	-	0.00	43	0	C	NM_033170		40969634	-1	tier1	-	no_errors	ENST00000380612	ensembl	human	putative	74_37	silent	12.28	50	7	SNP	0.000	T
CA3	761	genome.wustl.edu	37	8	86357447	86357447	+	Splice_Site	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:86357447G>T	ENST00000285381.2	+	5	590	c.507G>T	c.(505-507)aaG>aaT	p.K169N	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	169					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TTAAGACAAAGGTAAACAAAA	0.308																																																	0													90.0	88.0	88.0					8																	86357447		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.507+1G>T	8.37:g.86357447G>T			B2R867|B3KUC8|O60842	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K169N	ENST00000285381.2	37	c.507	CCDS6238.1	8	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670751	0.67814	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.71103	-0.54	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88257	0.2920	10	0.87932	D	0	-27.0286	16.1594	0.81686	0.0:0.0:1.0:0.0	.	169	P07451	CAH3_HUMAN	N	169;153	ENSP00000285381:K169N	ENSP00000285381:K169N	K	+	3	2	CA3	86544699	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.146000	0.64845	2.885000	0.99019	0.655000	0.94253	AAG	CA3	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000164879		0.308	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA3	HGNC	protein_coding	OTTHUMT00000381090.1	-	0.00	9	0	G	NM_005181	Missense_Mutation	86357447	+1	tier1	-	no_errors	ENST00000285381	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	T
CDKAL1	54901	genome.wustl.edu	37	6	21065322	21065322	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:21065322C>T	ENST00000378610.1	+	10	1109	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	CDKAL1_ENST00000274695.4_Missense_Mutation_p.P367S|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P297S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	367					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTGTGGTTTTCCTGGAGAAAC	0.328																																																	0													76.0	77.0	77.0					6																	21065322		2203	4300	6503	SO:0001583	missense	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1099C>T	6.37:g.21065322C>T	ENSP00000367873:p.Pro367Ser		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.P367S	ENST00000378610.1	37	c.1099	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927558	0.92389	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.51325	0.71;0.71;0.71	5.76	5.76	0.90799	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84117	0.0404	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	297;367	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	S	367;297;367	ENSP00000274695:P367S;ENSP00000367889:P297S;ENSP00000367873:P367S	ENSP00000274695:P367S	P	+	1	0	CDKAL1	21173301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	CCT	CDKAL1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.328	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	-	0.00	36	0	C	NM_017774		21065322	+1	tier1	-	no_errors	ENST00000274695	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T
CDC5L	988	genome.wustl.edu	37	6	44394257	44394257	+	Silent	SNP	G	G	A	rs375237261		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTAGAACCGCCTTTAACAG	0.284																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	51.0		1689	-2.5	1.0	6		51	0,8596		0,0,4298	no	coding-synonymous	CDC5L	NM_001253.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		563/803	44394257	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1689G>A	6.37:g.44394257G>A			Q76N46|Q99974	Silent	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P563	ENST00000371477.3	37	c.1689	CCDS4912.1	6																																																																																			CDC5L	-	pfam_DUF3351	ENSG00000096401		0.284	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	-	0.00	23	0	G			44394257	+1	tier1	-	no_errors	ENST00000371477	ensembl	human	known	74_37	silent	20.97	49	13	SNP	0.998	A
CTBP1	1487	genome.wustl.edu	37	4	1245592	1245592	+	5'Flank	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:1245592G>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CCAAGTTACTGGACACCAGGA	0.512																																																	0																																										SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1245592G>T	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS2	-	-	ENSG00000196810		0.512	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS2	HGNC	protein_coding	OTTHUMT00000202938.1	-	0.00	49	0	G	NM_001328		1245592	+1	tier1	-	no_errors	ENST00000578730	ensembl	human	known	74_37	rna	5.63	67	4	SNP	0.000	T
CNGA1	1259	genome.wustl.edu	37	4	47938770	47938770	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:47938770G>A	ENST00000514170.1	-	11	2060	c.1741C>T	c.(1741-1743)Ctc>Ttc	p.L581F	CNGA1_ENST00000420489.2_Missense_Mutation_p.L581F|CNGA1_ENST00000358519.4_Missense_Mutation_p.L581F|CNGA1_ENST00000544810.1_Missense_Mutation_p.L581F|CNGA1_ENST00000402813.3_Missense_Mutation_p.L650F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GCTTCCATGAGGTCATCTTTT	0.413																																																	0													131.0	128.0	129.0					4																	47938770		1985	4209	6194	SO:0001583	missense	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1741C>T	4.37:g.47938770G>A	ENSP00000426862:p.Leu581Phe		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L650F	ENST00000514170.1	37	c.1948	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027295	0.75390	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	4.77	4.77	0.60923	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	N	0.26092	0.79	0.80722	D	1	P;P	0.44578	0.838;0.838	P;P	0.47015	0.534;0.534	D	0.92782	0.6241	10	0.46703	T	0.11	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	581;581	Q4W5E3;P29973	.;CNGA1_HUMAN	F	650;581;581;581;581	ENSP00000384264:L650F;ENSP00000426862:L581F;ENSP00000443401:L581F;ENSP00000351320:L581F;ENSP00000389881:L581F	ENSP00000351320:L581F	L	-	1	0	CNGA1	47633527	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.288000	0.72679	2.352000	0.79861	0.491000	0.48974	CTC	CNGA1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000198515		0.413	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	-	0.00	47	0	G	NM_000087		47938770	-1	tier1	-	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A
CTBP2	1488	genome.wustl.edu	37	10	126678087	126678087	+	Silent	SNP	C	C	T	rs111888382		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:126678087C>T	ENST00000337195.5	-	11	1737	c.1338G>A	c.(1336-1338)taG>taA	p.*446*	CTBP2_ENST00000531469.1_Silent_p.*446*|CTBP2_ENST00000309035.6_Silent_p.*986*|CTBP2_ENST00000411419.2_Silent_p.*446*|CTBP2_ENST00000334808.6_Silent_p.*514*|CTBP2_ENST00000494626.2_Silent_p.*446*	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCATTCTCTGCTATTGCTCGT	0.488																																																	0													76.0	81.0	79.0					10																	126678087		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1338G>A	10.37:g.126678087C>T			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.*986	ENST00000337195.5	37	c.2958	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.488	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0.00	77	0	C	NM_001083914		126678087	-1	tier1	rs111888382	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	6.12	92	6	SNP	1.000	T
CYSTM1	84418	genome.wustl.edu	37	5	139622995	139622995	+	Silent	SNP	G	G	A	rs370523896		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:139622995G>A	ENST00000261811.4	+	3	957	c.293G>A	c.(292-294)tGa>tAa	p.*98*	CYSTM1_ENST00000509789.2_3'UTR|PFDN1_ENST00000514611.1_5'Flank	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATGCTCACCTGACCAGACCAG	0.572																																																	0								G		0,4406		0,0,2203	64.0	58.0	60.0		293	5.2	1.0	5		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf32	NM_032412.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		98/98	139622995	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.293G>A	5.37:g.139622995G>A			Q8TBA5	Silent	SNP	NULL	p.*98	ENST00000261811.4	37	c.293	CCDS4221.1	5																																																																																			CYSTM1	-	NULL	ENSG00000120306		0.572	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSTM1	HGNC	protein_coding	OTTHUMT00000251342.2	-	0.00	33	0	G	NM_032412		139622995	+1	tier1	-	no_errors	ENST00000261811	ensembl	human	known	74_37	silent	45.00	22	18	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6662744	6662744	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr11:6662744C>A	ENST00000299441.3	-	2	512	c.101G>T	c.(100-102)gGg>gTg	p.G34V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	34					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCCAGCCCCcagcagcag	0.642																																																	0													8.0	8.0	8.0					11																	6662744		2165	4229	6394	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.101G>T	11.37:g.6662744C>A	ENSP00000299441:p.Gly34Val		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G34V	ENST00000299441.3	37	c.101	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535676	0.45176	.	.	ENSG00000166341	ENST00000299441	T	0.54279	0.58	5.32	5.32	0.75619	.	0.000000	0.40554	N	0.001076	T	0.65176	0.2666	M	0.68952	2.095	0.47584	D	0.999464	D	0.64830	0.994	P	0.61328	0.887	T	0.60286	-0.7293	10	0.10902	T	0.67	.	16.1489	0.81599	0.0:1.0:0.0:0.0	.	34	Q96JQ0	PCD16_HUMAN	V	34	ENSP00000299441:G34V	ENSP00000299441:G34V	G	-	2	0	DCHS1	6619320	0.845000	0.29573	0.928000	0.36995	0.824000	0.46624	1.469000	0.35343	2.489000	0.83994	0.579000	0.79373	GGG	DCHS1	-	NULL	ENSG00000166341		0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0.00	48	0	C	NM_003737		6662744	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.981	A
DDX4	54514	genome.wustl.edu	37	5	55110775	55110775	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:55110775T>A	ENST00000505374.1	+	20	1854	c.1762T>A	c.(1762-1764)Ttt>Att	p.F588I	DDX4_ENST00000511853.1_Missense_Mutation_p.F439I|DDX4_ENST00000514278.2_Missense_Mutation_p.F568I|DDX4_ENST00000354991.5_Missense_Mutation_p.F554I|DDX4_ENST00000353507.5_Missense_Mutation_p.F554I	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	588	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATTTTCGCTTTGGAAAGTG	0.403																																																	0													115.0	119.0	117.0					5																	55110775		2203	4300	6503	SO:0001583	missense	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1762T>A	5.37:g.55110775T>A	ENSP00000424838:p.Phe588Ile		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F588I	ENST00000505374.1	37	c.1762	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	T	4.479	0.088743	0.08583	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	5.83	1.95	0.26073	Helicase, C-terminal (3);	0.575982	0.18872	N	0.128808	D	0.84220	0.5424	N	0.17723	0.515	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.001	T	0.71590	-0.4547	10	0.41790	T	0.15	-9.4205	10.9521	0.47336	0.486:0.0:0.0:0.514	.	568;439;554;588	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	I	554;568;588;554;439	ENSP00000334167:F554I;ENSP00000425359:F568I;ENSP00000424838:F588I;ENSP00000347087:F554I;ENSP00000423123:F439I	ENSP00000334167:F554I	F	+	1	0	DDX4	55146532	0.930000	0.31532	0.995000	0.50966	0.035000	0.12851	0.982000	0.29539	0.088000	0.17205	-0.301000	0.09380	TTT	DDX4	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000152670		0.403	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	-	0.00	63	0	T	NM_024415		55110775	+1	tier1	-	no_errors	ENST00000505374	ensembl	human	known	74_37	missense	43.04	45	34	SNP	0.632	A
DGKK	139189	genome.wustl.edu	37	X	50163452	50163452	+	RNA	SNP	C	C	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:50163452C>A	ENST00000376025.2	-	0	950							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCCATTCTTCCATGTCTTTCC	0.363																																																	0													257.0	222.0	233.0					X																	50163452		1837	4088	5925			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50163452C>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.363	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0.00	28	0	C	NM_001013742		50163452	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	15.22	39	7	SNP	1.000	A
DUSP10	11221	genome.wustl.edu	37	1	221875156	221875157	+	3'UTR	INS	-	-	A	rs571834010		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:221875156_221875157insA	ENST00000366899.3	-	0	2284_2285				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_3'UTR|DUSP10_ENST00000544095.1_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCCAGAGAAGGAAAAAAAAAAA	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*598->T	1.37:g.221875167_221875167dupA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	INS	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.351	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	25	0	-	NM_007207		221875157	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	12.90	27	4	INS	0.002:0.000	A
EML3	256364	genome.wustl.edu	37	11	62375370	62375371	+	Intron	INS	-	-	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr11:62375370_62375371insA	ENST00000394773.2	-	11	1514				EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Intron|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Intron|EML3_ENST00000278845.4_Intron|EML3_ENST00000531557.1_Intron	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3							cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAATTTGCATCATGACAGCTGG	0.485																																																	0																																										SO:0001627	intron_variant	0			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1207-77->T	11.37:g.62375371_62375371dupA			Q6ZQW7|Q8NA55	RNA	INS	-	NULL	ENST00000394773.2	37	NULL	CCDS8023.2	11																																																																																			EML3	-	-	ENSG00000149499		0.485	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1		0.00	15	0	-	NM_153265		62375371	-1	tier1		no_errors	ENST00000438258	ensembl	human	known	74_37	rna	40.00	12	8	INS	0.001:0.000	A
PDPK1	5170	genome.wustl.edu	37	16	2647916	2647916	+	3'UTR	SNP	A	A	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:2647916A>T	ENST00000342085.4	+	0	1968				CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000268673.7_3'UTR|PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000389224.3_3'UTR	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TTTAAAAGAAAAGAAGAAAAA	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.*148A>T	16.37:g.2647916A>T			H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			CTD-3126B10.1	-	-	ENSG00000261093		0.507	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261093	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3	-	0.00	33	0	A			2647916	-1	tier1	-	no_errors	ENST00000562166	ensembl	human	known	74_37	rna	46.67	32	28	SNP	1.000	T
WASH6P	653440	genome.wustl.edu	37	X	155250722	155250722	+	RNA	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:155250722T>C	ENST00000461007.1	+	0	0				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ttccatgagatgcaagcacac	0.577																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155250722T>C			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.006|0.006	-2.039651|-2.039651	0.00402|0.00402	.|.	.|.	ENSG00000182484|ENSG00000182484	ENST00000359512|ENST00000285718	.|.	.|.	.|.	0.379|0.379	0.379|0.379	0.16213|0.16213	.|.	0.228496|.	0.35936|.	U|.	0.002898|.	T|T	0.12050|0.12050	0.0293|0.0293	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33650|0.33650	-0.9860|-0.9860	5|4	0.66056|0.02654	D|T	0.02|1	-2.2966|-2.2966	.|.	.|.	.|.	.|.	.|.	.|.	.|.	R|T	33|6	.|.	ENSP00000352498:C33R|ENSP00000285718:M6T	C|M	+|+	1|2	0|0	WASH6P|WASH6P	154903916|154903916	0.083000|0.083000	0.21467|0.21467	0.018000|0.018000	0.16275|0.16275	0.063000|0.063000	0.16089|0.16089	0.660000|0.660000	0.25009|0.25009	0.350000|0.350000	0.24002|0.24002	0.143000|0.143000	0.16000|0.16000	TGC|ATG	AJ271736.10	-	-	ENSG00000270726		0.577	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1	-	0.00	37	0	T	NG_008380		155250722	+1	tier1	-	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	44.44	10	8	SNP	0.019	C
EPB41L1	2036	genome.wustl.edu	37	20	34797649	34797649	+	Silent	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:34797649C>T	ENST00000338074.2	+	15	2069	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	EPB41L1_ENST00000202028.5_Silent_p.F562F|EPB41L1_ENST00000373950.2_Silent_p.F527F|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Silent_p.F562F|EPB41L1_ENST00000373941.1_Silent_p.F636F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	636					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCGAAGACTTCTCCCGCAGCC	0.617																																																	0													73.0	61.0	65.0					20																	34797649		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1908C>T	20.37:g.34797649C>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.F636	ENST00000338074.2	37	c.1908	CCDS13271.1	20																																																																																			EPB41L1	-	pirsf_Band_41_protein	ENSG00000088367		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0.00	39	0	C	NM_012156		34797649	+1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	silent	44.68	26	21	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139144969	139144969	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:139144969C>T	ENST00000395297.1	-	20	4258	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1363										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACGTTGTGTCGGATTAAAGT	0.532										HNSCC(54;0.14)																																							0													249.0	257.0	255.0					8																	139144969		1984	4164	6148	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4088G>A	8.37:g.139144969C>T	ENSP00000378710:p.Arg1363Gln		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R1363Q	ENST00000395297.1	37	c.4088	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	36	5.928355	0.97116	.	.	ENSG00000147724	ENST00000395297	T	0.25912	1.77	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.58949	0.2158	M	0.87038	2.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.65067	-0.6258	10	0.87932	D	0	-11.9564	18.6987	0.91613	0.0:1.0:0.0:0.0	.	1363	Q49AJ0	F135B_HUMAN	Q	1363	ENSP00000378710:R1363Q	ENSP00000378710:R1363Q	R	-	2	0	FAM135B	139214151	1.000000	0.71417	0.843000	0.33291	0.997000	0.91878	7.818000	0.86416	2.676000	0.91093	0.591000	0.81541	CGA	FAM135B	-	NULL	ENSG00000147724		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	40	0	C	NM_015912		139144969	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	26.47	50	18	SNP	1.000	T
FAM170B	170370	genome.wustl.edu	37	10	50339714	50339714	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:50339714C>T	ENST00000311787.5	-	2	885	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	266										central_nervous_system(1)|endometrium(1)|skin(1)	3						CGGGAACATTCGCTGTTGTCT	0.597																																																	0													85.0	80.0	81.0					10																	50339714		692	1591	2283	SO:0001583	missense	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.796G>A	10.37:g.50339714C>T	ENSP00000308292:p.Glu266Lys		Q86WY6|Q8N6K8	Missense_Mutation	SNP	NULL	p.E266K	ENST00000311787.5	37	c.796	CCDS53536.1	10	.	.	.	.	.	.	.	.	.	.	c	7.929	0.740206	0.15642	.	.	ENSG00000172538	ENST00000311787	T	0.48836	0.8	5.0	-0.0451	0.13853	.	1.284160	0.05248	N	0.513475	T	0.21509	0.0518	N	0.11255	0.115	0.09310	N	1	B	0.20459	0.045	B	0.16722	0.016	T	0.13072	-1.0523	10	0.06891	T	0.86	-0.2511	1.0458	0.01569	0.1603:0.4206:0.1555:0.2636	.	266	A6NMN3	F170B_HUMAN	K	266	ENSP00000308292:E266K	ENSP00000308292:E266K	E	-	1	0	FAM170B	50009720	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.341000	0.07811	-0.169000	0.10834	-0.487000	0.04747	GAA	FAM170B	-	NULL	ENSG00000172538		0.597	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1	-	0.00	75	0	C	XM_096317		50339714	-1	tier1	-	no_errors	ENST00000311787	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.000	T
FAM179A	165186	genome.wustl.edu	37	2	29247111	29247111	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:29247111G>A	ENST00000379558.4	+	13	2075	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R520H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	575										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGATCGCCCGCTGCTTGCTG	0.597																																																	0													34.0	35.0	35.0					2																	29247111		2037	4177	6214	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1724G>A	2.37:g.29247111G>A	ENSP00000368876:p.Arg575His		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.R575H	ENST00000379558.4	37	c.1724	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332314	0.81801	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.67171	2.38;2.38;2.38;-0.25	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000006	T	0.80649	0.4663	M	0.66939	2.045	0.40314	D	0.978759	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81965	-0.0691	10	0.48119	T	0.1	.	17.7168	0.88340	0.0:0.0:1.0:0.0	.	520;575	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	10;575;520;70	ENSP00000384897:R10H;ENSP00000368876:R575H;ENSP00000384699:R520H;ENSP00000396739:R70H	ENSP00000368876:R575H	R	+	2	0	FAM179A	29100615	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	2.793000	0.47845	2.262000	0.75019	0.462000	0.41574	CGC	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000189350		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0.00	53	0	G	NM_199280		29247111	+1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	15.94	58	11	SNP	1.000	A
FLJ12825	440101	genome.wustl.edu	37	12	54515536	54515536	+	lincRNA	DEL	C	C	-	rs112977992		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:54515536delC	ENST00000515617.1	+	0	3460				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						CCATCCCCTACCCCAATCAGG	0.517																																																	0																																												0																															12.37:g.54515536delC				RNA	DEL	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.3	-	-	ENSG00000248265		0.517	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1		0.00	23	0	C			54515536	+1	tier1		no_errors	ENST00000515617	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.006	-
FUT8	2530	genome.wustl.edu	37	14	66190950	66190950	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr14:66190950T>A	ENST00000360689.5	+	9	2895	c.1168T>A	c.(1168-1170)Ttt>Att	p.F390I	FUT8_ENST00000394585.1_Missense_Mutation_p.F390I|FUT8_ENST00000394586.2_Missense_Mutation_p.F390I|FUT8_ENST00000358307.2_Missense_Mutation_p.F261I|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Missense_Mutation_p.F227I	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	390	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGAAGAACATTTTCAGCTTCT	0.433																																																	0													126.0	103.0	111.0					14																	66190950		2203	4300	6503	SO:0001583	missense	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1168T>A	14.37:g.66190950T>A	ENSP00000353910:p.Phe390Ile		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.F390I	ENST00000360689.5	37	c.1168	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541277	0.85917	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.81	5.81	0.92471	.	0.047262	0.85682	D	0.000000	T	0.36936	0.0985	M	0.81341	2.54	0.80722	D	1	P;P	0.47253	0.794;0.892	B;P	0.44422	0.218;0.449	T	0.26916	-1.0089	10	0.35671	T	0.21	-16.3219	14.1188	0.65172	0.0:0.0:0.0:1.0	.	261;390	G3XAD2;Q9BYC5	.;FUT8_HUMAN	I	390;390;227;390;261	ENSP00000353910:F390I;ENSP00000378087:F390I;ENSP00000452433:F227I;ENSP00000378086:F390I;ENSP00000351057:F261I	ENSP00000351057:F261I	F	+	1	0	FUT8	65260703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.988000	0.88194	2.210000	0.71456	0.533000	0.62120	TTT	FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	-	0.00	44	0	T	NM_004480		66190950	+1	tier1	-	no_errors	ENST00000360689	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
GRM3	2913	genome.wustl.edu	37	7	86468866	86468866	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:86468866G>A	ENST00000361669.2	+	4	3135	c.2036G>A	c.(2035-2037)aGg>aAg	p.R679K	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R551K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.R271K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	679					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGCGCTCAGAGGCCAAAATTC	0.547																																					GBM(52;969 1098 3139 52280)												0													80.0	78.0	78.0					7																	86468866		2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2036G>A	7.37:g.86468866G>A	ENSP00000355316:p.Arg679Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R679K	ENST00000361669.2	37	c.2036	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043992	0.55110	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87571	-2.27;-2.27;-2.27	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89501	0.6733	L	0.37466	1.105	0.80722	D	1	D;B;P	0.60575	0.988;0.286;0.581	D;B;B	0.63877	0.919;0.175;0.371	D	0.86523	0.1817	10	0.23302	T	0.38	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	271;551;679	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	K	679;271;551	ENSP00000355316:R679K;ENSP00000444064:R271K;ENSP00000441407:R551K	ENSP00000355316:R679K	R	+	2	0	GRM3	86306802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	AGG	GRM3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000198822		0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0.00	46	0	G			86468866	+1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	33.33	48	24	SNP	1.000	A
HCAR2	338442	genome.wustl.edu	37	12	123187427	123187427	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:123187427G>A	ENST00000328880.5	-	1	463	c.404C>T	c.(403-405)gCc>gTc	p.A135V	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	135					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CTTGTTCAGGGCGTGGTGGGG	0.557																																																	0													130.0	116.0	121.0					12																	123187427		2203	4300	6503	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.404C>T	12.37:g.123187427G>A	ENSP00000375066:p.Ala135Val		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A135V	ENST00000328880.5	37	c.404	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	6.960	0.547124	0.13312	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37752	1.18	5.55	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.737099	0.12172	N	0.492920	T	0.31796	0.0808	M	0.62016	1.91	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.28776	-1.0033	10	0.38643	T	0.18	-2.4437	5.1464	0.14987	0.2487:0.3092:0.4421:0.0	.	135	Q8TDS4	HCAR2_HUMAN	V	135	ENSP00000375066:A135V	ENSP00000375066:A135V	A	-	2	0	HCAR2	121753380	0.001000	0.12720	0.000000	0.03702	0.990000	0.78478	1.060000	0.30530	0.122000	0.18314	0.655000	0.94253	GCC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182782		0.557	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0.00	81	0	G	NM_177551		123187427	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	25.00	138	46	SNP	0.000	A
HCN1	348980	genome.wustl.edu	37	5	45645478	45645478	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:45645478T>G	ENST00000303230.4	-	2	715	c.658A>C	c.(658-660)Agc>Cgc	p.S220R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	220					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						ACAAACCAGCTTTTTAAATAA	0.393																																																	0													87.0	81.0	83.0					5																	45645478		2203	4299	6502	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.658A>C	5.37:g.45645478T>G	ENSP00000307342:p.Ser220Arg			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.S220R	ENST00000303230.4	37	c.658	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246099	0.80024	.	.	ENSG00000164588	ENST00000303230	D	0.98717	-5.09	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99061	0.9678	M	0.84846	2.72	0.58432	D	0.999999	D	0.62365	0.991	D	0.65140	0.932	D	0.99564	1.0969	10	0.87932	D	0	.	15.3658	0.74519	0.0:0.0:0.0:1.0	.	220	O60741	HCN1_HUMAN	R	220	ENSP00000307342:S220R	ENSP00000307342:S220R	S	-	1	0	HCN1	45681235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.038000	0.60285	0.454000	0.30748	AGC	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	55	0	T	NM_021072		45645478	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	6.74	83	6	SNP	1.000	G
HRH1	3269	genome.wustl.edu	37	3	11300956	11300956	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:11300956C>A	ENST00000397056.1	+	3	424	c.233C>A	c.(232-234)gCc>gAc	p.A78D	HRH1_ENST00000431010.2_Missense_Mutation_p.A78D|HRH1_ENST00000438284.2_Missense_Mutation_p.A78D	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	78					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATCGTGGGTGCCGTCGTCATG	0.577																																																	0													167.0	133.0	145.0					3																	11300956		2203	4300	6503	SO:0001583	missense	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.233C>A	3.37:g.11300956C>A	ENSP00000380247:p.Ala78Asp		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.A78D	ENST00000397056.1	37	c.233	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410677	0.62399	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.38240	1.15;1.15;1.15	5.87	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.165528	0.52532	D	0.000074	T	0.61590	0.2359	M	0.86953	2.85	0.53688	D	0.999972	D	0.64830	0.994	D	0.65573	0.936	T	0.66999	-0.5781	10	0.87932	D	0	-4.3811	11.799	0.52116	0.0:0.81:0.1236:0.0663	.	78	P35367	HRH1_HUMAN	D	78	ENSP00000406705:A78D;ENSP00000397028:A78D;ENSP00000380247:A78D	ENSP00000380247:A78D	A	+	2	0	HRH1	11275956	0.972000	0.33761	0.022000	0.16811	0.689000	0.40095	2.674000	0.46867	0.811000	0.34303	0.655000	0.94253	GCC	HRH1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196639		0.577	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	-	0.00	25	0	C			11300956	+1	tier1	-	no_errors	ENST00000397056	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.890	A
HSD17B7P2	158160	genome.wustl.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																																	0																																												0					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G				RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			HSD17B7P2	-	-	ENSG00000099251		0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	HGNC	pseudogene	OTTHUMT00000047631.2		0.00	46	0	A	NR_003086		38654432	+1			no_errors	ENST00000494540	ensembl	human	known	74_37	rna	5.00	76	4	SNP	1.000	G
IRAK2	3656	genome.wustl.edu	37	3	10255058	10255058	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:10255058G>A	ENST00000256458.4	+	5	786	c.696G>A	c.(694-696)aaG>aaA	p.K232K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGCACGGGAAGCCATTCGTCT	0.552																																																	0													65.0	63.0	63.0					3																	10255058		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.696G>A	3.37:g.10255058G>A			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K232	ENST00000256458.4	37	c.696	CCDS33697.1	3																																																																																			IRAK2	-	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	ENSG00000134070		0.552	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	-	0.00	33	0	G			10255058	+1	tier1	-	no_errors	ENST00000256458	ensembl	human	known	74_37	silent	60.98	16	25	SNP	0.000	A
KRTAP9-8	83901	genome.wustl.edu	37	17	39394711	39394711	+	Missense_Mutation	SNP	G	G	C	rs373648251		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:39394711G>C	ENST00000254072.6	+	1	415	c.408G>C	c.(406-408)gaG>gaC	p.E136D		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	136	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACCTGCT	0.612																																																	0													21.0	27.0	25.0					17																	39394711		2078	4270	6348	SO:0001583	missense	0			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.408G>C	17.37:g.39394711G>C	ENSP00000254072:p.Glu136Asp			Missense_Mutation	SNP	NULL	p.E136D	ENST00000254072.6	37	c.408	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891637	0.33442	.	.	ENSG00000187272	ENST00000254072	T	0.01246	5.11	2.61	-4.39	0.03611	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.36407	-0.9749	9	0.12430	T	0.62	.	5.6004	0.17351	0.6376:0.17:0.1924:0.0	.	136	Q9BYQ0	KRA98_HUMAN	D	136	ENSP00000254072:E136D	ENSP00000254072:E136D	E	+	3	2	KRTAP9-8	36648237	0.000000	0.05858	0.000000	0.03702	0.821000	0.46438	-3.062000	0.00623	-0.920000	0.03799	0.194000	0.17425	GAG	KRTAP9-8	-	NULL	ENSG00000187272		0.612	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1		0.00	75	0	G			39394711	+1			no_errors	ENST00000254072	ensembl	human	known	74_37	missense	21.70	83	23	SNP	0.000	C
LINC00174	285908	genome.wustl.edu	37	7	65842543	65842543	+	lincRNA	SNP	C	C	T	rs112115083|rs76573134|rs71523758	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:65842543C>T	ENST00000421767.1	-	0	3189					NR_026873.1				long intergenic non-protein coding RNA 174									p.G21fs*90(1)									ATCCAACACACGTGCTGTTCC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.001																1	Insertion - Frameshift(1)	large_intestine(1)											48.0	42.0	44.0					7																	65842543		2203	4300	6503			0			AK091213		7q11.21	2013-12-05	2013-12-05	2013-12-05	ENSG00000179406	ENSG00000179406		"""Long non-coding RNAs"""	27788	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 174"""	NCRNA00174			Standard	NR_026873		Approved		uc003tux.4		OTTHUMG00000156590		7.37:g.65842543C>T				RNA	SNP	-	NULL	ENST00000421767.1	37	NULL		7																																																																																			LINC00174	-	-	ENSG00000179406		0.572	LINC00174-001	KNOWN	basic	lincRNA	LINC00174	HGNC	lincRNA	OTTHUMT00000344721.1		0.00	13	0	C	NR_026873		65842543	-1			no_errors	ENST00000421767	ensembl	human	known	74_37	rna	8.33	22	2	SNP	0.027	T
LOC388813	388813	genome.wustl.edu	37	21	16031090	16031090	+	Start_Codon_SNP	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr21:16031090C>G	ENST00000400562.1	-	1	52	c.3G>C	c.(1-3)atG>atC	p.M1I																	central_nervous_system(1)	1						AGAAAAGATTCATTTTGACCA	0.373																																																	0																																										SO:0001582	initiator_codon_variant	0																														ENST00000400562.1:c.3G>C	21.37:g.16031090C>G	ENSP00000383407:p.Met1Ile			Missense_Mutation	SNP	NULL	p.M1I	ENST00000400562.1	37	c.3		21	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594415	0.28445	.	.	ENSG00000243440	ENST00000400562	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.78413	0.4279	.	.	.	0.35242	D	0.777883	.	.	.	.	.	.	D	0.83831	0.0252	5	0.87932	D	0	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	I	1	.	ENSP00000383407:M1I	M	-	3	0	AF165138.7	14952961	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	5.359000	0.66074	2.730000	0.93505	0.591000	0.81541	ATG	AF165138.7	-	NULL	ENSG00000243440		0.373	AF165138.7-001	PUTATIVE	basic|appris_principal	protein_coding	LOC388813	Clone_based_vega_gene	protein_coding	OTTHUMT00000157908.1	-	0.00	40	0	C		Missense_Mutation	16031090	-1	tier1	-	no_errors	ENST00000400562	ensembl	human	putative	74_37	missense	21.82	43	12	SNP	1.000	G
LZTS3	9762	genome.wustl.edu	37	20	3147483	3147483	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:3147483G>A	ENST00000329152.3	-	1	1724	c.327C>T	c.(325-327)acC>acT	p.T109T	LZTS3_ENST00000360342.3_Silent_p.T109T|LZTS3_ENST00000337576.5_Silent_p.T109T			O60299	LZTS3_HUMAN		109						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CACAGACATCGGTGTGGTCAC	0.657																																																	0													81.0	64.0	70.0					20																	3147483		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000329152.3:c.327C>T	20.37:g.3147483G>A			A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	NULL	p.T109	ENST00000329152.3	37	c.327	CCDS13049.1	20																																																																																			LZTS3	-	NULL	ENSG00000088899		0.657	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	Uniprot_gn	protein_coding	OTTHUMT00000077715.2	-	0.00	78	0	G			3147483	-1	tier1	-	no_errors	ENST00000329152	ensembl	human	known	74_37	silent	28.41	63	25	SNP	0.057	A
MADCAM1	8174	genome.wustl.edu	37	19	504758	504758	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:504758G>A	ENST00000215637.3	+	5	988	c.942G>A	c.(940-942)gcG>gcA	p.A314A	MADCAM1_ENST00000382683.4_Silent_p.A132A|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.A227A|TPGS1_ENST00000359315.5_5'Flank|MADCAM1_ENST00000587541.1_Silent_p.A95A	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAACCTGCGGGTGACCAGC	0.672																																																	0													48.0	55.0	53.0					19																	504758		2203	4299	6502	SO:0001819	synonymous_variant	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.942G>A	19.37:g.504758G>A			A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.A314	ENST00000215637.3	37	c.942	CCDS12028.1	19																																																																																			MADCAM1	-	NULL	ENSG00000099866		0.672	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	-	0.00	47	0	G	NM_130760		504758	+1	tier1	-	no_errors	ENST00000215637	ensembl	human	known	74_37	silent	8.96	60	6	SNP	0.000	A
MAP2	4133	genome.wustl.edu	37	2	210559468	210559468	+	Silent	SNP	A	A	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:210559468A>T	ENST00000360351.4	+	7	3080	c.2574A>T	c.(2572-2574)gtA>gtT	p.V858V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.V854V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	858					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGTCATTGTAAAAACGGACA	0.483																																					Pancreas(27;423 979 28787 29963)												0													84.0	79.0	81.0					2																	210559468		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2574A>T	2.37:g.210559468A>T			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.V858	ENST00000360351.4	37	c.2574	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0.00	52	0	A	NM_001039538		210559468	+1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.004	T
MDC1	9656	genome.wustl.edu	37	6	30680542	30680542	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:30680542T>C	ENST00000376406.3	-	5	1824	c.1177A>G	c.(1177-1179)Aaa>Gaa	p.K393E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.K393E	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	393	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTTGGCTTTTCTCCAGAGGG	0.557								Other conserved DNA damage response genes																																									0													79.0	84.0	82.0					6																	30680542		1510	2709	4219	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1177A>G	6.37:g.30680542T>C	ENSP00000365588:p.Lys393Glu		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.K393E	ENST00000376406.3	37	c.1177	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554333	0.27739	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02812	4.21;4.15	4.85	0.934	0.19477	.	0.418995	0.17716	N	0.164424	T	0.00724	0.0024	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.31817	0.187;0.187;0.231;0.341	B;B;B;B	0.30495	0.116;0.116;0.054;0.085	T	0.48433	-0.9036	10	0.48119	T	0.1	-0.8353	4.492	0.11819	0.0:0.1838:0.167:0.6492	.	393;265;393;393	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	E	393;393;393;265	ENSP00000365588:K393E;ENSP00000365587:K393E	ENSP00000365587:K393E	K	-	1	0	MDC1	30788521	0.004000	0.15560	0.005000	0.12908	0.081000	0.17604	1.505000	0.35736	0.066000	0.16515	0.459000	0.35465	AAA	MDC1	-	NULL	ENSG00000137337		0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0.00	52	0	T	NM_014641		30680542	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.012	C
MMP16	4325	genome.wustl.edu	37	8	89180161	89180161	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:89180161C>T	ENST00000286614.6	-	4	727	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	149					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AATAGCTTTACGAGTCTCAGG	0.378																																																	0													117.0	105.0	109.0					8																	89180161		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.446G>A	8.37:g.89180161C>T	ENSP00000286614:p.Arg149His		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R149H	ENST00000286614.6	37	c.446	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043696	0.36085	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.56103	1.93;0.48	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.042972	0.85682	D	0.000000	T	0.49575	0.1565	L	0.49455	1.56	0.58432	D	0.999998	B;B	0.22683	0.073;0.012	B;B	0.18263	0.021;0.007	T	0.43669	-0.9377	10	0.13108	T	0.6	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	149;149	P51512-2;P51512	.;MMP16_HUMAN	H	149;166	ENSP00000286614:R149H;ENSP00000429147:R166H	ENSP00000286614:R149H	R	-	2	0	MMP16	89249277	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	5.606000	0.67641	2.937000	0.99478	0.650000	0.86243	CGT	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0.00	68	0	C	NM_005941		89180161	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	30.43	64	28	SNP	1.000	T
MST1R	4486	genome.wustl.edu	37	3	49933677	49933677	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:49933677C>G	ENST00000296474.3	-	10	2627	c.2600G>C	c.(2599-2601)aGt>aCt	p.S867T	MST1R_ENST00000344206.4_Missense_Mutation_p.S867T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	867					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TAGGTTGGCACTGGGTGGATG	0.582																																																	0													103.0	102.0	102.0					3																	49933677		2203	4300	6503	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2600G>C	3.37:g.49933677C>G	ENSP00000296474:p.Ser867Thr		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S867T	ENST00000296474.3	37	c.2600	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	4.409	0.075601	0.08485	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74106	1.5;-0.81	4.59	-1.29	0.09288	Cell surface receptor IPT/TIG (1);	0.575717	0.21359	N	0.075836	T	0.58722	0.2142	L	0.57536	1.79	0.09310	N	1	P;B	0.41848	0.763;0.255	B;B	0.30855	0.121;0.057	T	0.53078	-0.8489	10	0.44086	T	0.13	-3.4149	6.8378	0.23945	0.0:0.4265:0.3953:0.1782	.	867;867	Q04912-5;Q04912	.;RON_HUMAN	T	867	ENSP00000296474:S867T;ENSP00000341325:S867T	ENSP00000296474:S867T	S	-	2	0	MST1R	49908681	0.003000	0.15002	0.029000	0.17559	0.712000	0.41017	-0.380000	0.07427	-0.106000	0.12110	0.313000	0.20887	AGT	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT	ENSG00000164078		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0.00	63	0	C			49933677	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.008	G
MTMR1	8776	genome.wustl.edu	37	X	149898659	149898659	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:149898659G>A	ENST00000370390.3	+	6	767	c.610G>A	c.(610-612)Gca>Aca	p.A204T	MTMR1_ENST00000544228.1_Missense_Mutation_p.A204T|MTMR1_ENST00000541925.1_Missense_Mutation_p.A110T|MTMR1_ENST00000451863.2_Missense_Mutation_p.A204T|MTMR1_ENST00000542156.1_Missense_Mutation_p.A204T|MTMR1_ENST00000538506.1_Missense_Mutation_p.A91T|MTMR1_ENST00000445323.2_Missense_Mutation_p.A212T	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	204					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAACAAACATGCATTTCCTCT	0.363																																																	0													114.0	101.0	106.0					X																	149898659		2203	4300	6503	SO:0001583	missense	0			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.610G>A	X.37:g.149898659G>A	ENSP00000359417:p.Ala204Thr		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.A212T	ENST00000370390.3	37	c.634	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.346868	0.95807	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.35	5.35	0.76521	.	0.051326	0.85682	D	0.000000	D	0.89529	0.6741	L	0.56769	1.78	0.80722	D	1	D;P;D	0.89917	1.0;0.953;1.0	D;P;D	0.75020	0.985;0.714;0.984	D	0.89303	0.3627	10	0.48119	T	0.1	.	18.4331	0.90633	0.0:0.0:1.0:0.0	.	204;212;204	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	T	110;110;204;204;212;204;204;91	ENSP00000441879:A110T;ENSP00000431992:A110T;ENSP00000445281:A204T;ENSP00000359417:A204T;ENSP00000414178:A212T;ENSP00000440534:A204T;ENSP00000387446:A204T;ENSP00000443444:A91T	ENSP00000359417:A204T	A	+	1	0	MTMR1	149649317	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.547000	0.98100	2.381000	0.81170	0.600000	0.82982	GCA	MTMR1	-	NULL	ENSG00000063601		0.363	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	-	0.00	31	0	G	NM_003828, NM_176789		149898659	+1	tier1	-	no_errors	ENST00000445323	ensembl	human	known	74_37	missense	64.44	16	29	SNP	1.000	A
MTRF1L	54516	genome.wustl.edu	37	6	153310937	153310937	+	3'UTR	DEL	A	A	-	rs368338572	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:153310937delA	ENST00000367233.5	-	0	1235				MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like							mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTGTTAACTCAACGTTTTTCA	0.313													A|AA|A|insertion	116	0.0231629	0.0212	0.036	5008	,	,		16324	0.0139		0.0129	False		,,,				2504	0.0368																0																																										SO:0001624	3_prime_UTR_variant	0			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.*93T>-	6.37:g.153310937delA			B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	RNA	DEL	-	NULL	ENST00000367233.5	37	NULL	CCDS5243.1	6																																																																																			MTRF1L	-	-	ENSG00000112031		0.313	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1		0.00	16	0	A	NM_019041		153310937	-1	tier1		no_errors	ENST00000461949	ensembl	human	known	74_37	rna	16.67	15	3	DEL	0.168	-
NEK5	341676	genome.wustl.edu	37	13	52649950	52649950	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr13:52649950A>T	ENST00000355568.4	-	20	1880	c.1741T>A	c.(1741-1743)Ttt>Att	p.F581I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	581					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTAATTTCAAATTTTACCCCC	0.299																																																	0													32.0	32.0	32.0					13																	52649950		2199	4290	6489	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1741T>A	13.37:g.52649950A>T	ENSP00000347767:p.Phe581Ile		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F581I	ENST00000355568.4	37	c.1741	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989681	0.53934	.	.	ENSG00000197168	ENST00000355568	T	0.28454	1.61	5.95	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.35248	0.0925	L	0.51422	1.61	0.27235	N	0.959308	D	0.56287	0.975	P	0.51945	0.685	T	0.15037	-1.0451	10	0.27082	T	0.32	.	8.7549	0.34639	0.9151:0.0:0.0849:0.0	.	581	Q6P3R8	NEK5_HUMAN	I	581	ENSP00000347767:F581I	ENSP00000347767:F581I	F	-	1	0	NEK5	51547951	0.998000	0.40836	0.993000	0.49108	0.379000	0.30106	3.047000	0.49854	1.081000	0.41110	0.460000	0.39030	TTT	NEK5	-	NULL	ENSG00000197168		0.299	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	-	0.00	37	0	A	NM_199289		52649950	-1	tier1	-	no_errors	ENST00000355568	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	37064653	37064653	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:37064653T>A	ENST00000282516.8	+	47	8573	c.8074T>A	c.(8074-8076)Tca>Aca	p.S2692T		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2692					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAACGAAATTCAGACTCTAC	0.383																																																	0													94.0	93.0	93.0					5																	37064653		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8074T>A	5.37:g.37064653T>A	ENSP00000282516:p.Ser2692Thr		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S2692T	ENST00000282516.8	37	c.8074	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348253	0.24426	.	.	ENSG00000164190	ENST00000282516	D	0.93307	-3.2	5.59	5.59	0.84812	.	0.368244	0.25025	N	0.033727	D	0.87426	0.6174	N	0.19112	0.55	0.80722	D	1	B	0.30326	0.276	B	0.24541	0.054	D	0.85496	0.1188	10	0.37606	T	0.19	-8.5968	15.7607	0.78076	0.0:0.0:0.0:1.0	.	2692	Q6KC79	NIPBL_HUMAN	T	2692	ENSP00000282516:S2692T	ENSP00000282516:S2692T	S	+	1	0	NIPBL	37100410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.485000	0.66850	2.128000	0.65567	0.460000	0.39030	TCA	NIPBL	-	NULL	ENSG00000164190		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	31	0	T	NM_015384		37064653	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	A
NLRP11	204801	genome.wustl.edu	37	19	56300637	56300637	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:56300637C>T	ENST00000589093.1	-	8	2735	c.2642G>A	c.(2641-2643)tGt>tAt	p.C881Y	NLRP11_ENST00000443188.1_Missense_Mutation_p.C881Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.C782Y|NLRP11_ENST00000589824.2_Missense_Mutation_p.C827Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.C827Y			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	881							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAACCACCACATAGCAGCTG	0.438																																																	0													140.0	136.0	138.0					19																	56300637		2203	4300	6503	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2642G>A	19.37:g.56300637C>T	ENSP00000466285:p.Cys881Tyr		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C881Y	ENST00000589093.1	37	c.2642	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960545	0.34565	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.44083	0.93;0.93	2.7	2.7	0.31948	.	.	.	.	.	T	0.70298	0.3208	H	0.94423	3.535	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.974;0.992	T	0.59048	-0.7527	9	0.87932	D	0	.	9.0456	0.36345	0.0:1.0:0.0:0.0	.	881;827	P59045;P59045-2	NAL11_HUMAN;.	Y	881;827	ENSP00000409898:C881Y;ENSP00000353251:C827Y	ENSP00000353251:C827Y	C	-	2	0	NLRP11	60992449	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.122000	0.31295	1.808000	0.52836	0.543000	0.68304	TGT	NLRP11	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000179873		0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0.00	68	0	C	NM_145007		56300637	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	30.38	55	24	SNP	0.005	T
NTN3	4917	genome.wustl.edu	37	16	2521982	2521982	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:2521982C>T	ENST00000293973.1	+	1	483	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	94	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTGTGCTGGCGCTCGGAGTC	0.716																																																	0													10.0	12.0	11.0					16																	2521982		2051	4103	6154	SO:0001583	missense	0			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.280C>T	16.37:g.2521982C>T	ENSP00000293973:p.Arg94Cys			Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.R94C	ENST00000293973.1	37	c.280	CCDS10469.1	16	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362308	0.41902	.	.	ENSG00000162068	ENST00000293973	T	0.75704	-0.96	3.62	3.62	0.41486	Laminin, N-terminal (3);	0.163369	0.39687	N	0.001285	T	0.76399	0.3982	M	0.67700	2.07	0.53005	D	0.999967	D	0.60575	0.988	P	0.51266	0.664	T	0.79249	-0.1881	10	0.87932	D	0	.	9.5805	0.39484	0.2098:0.7902:0.0:0.0	.	94	O00634	NET3_HUMAN	C	94	ENSP00000293973:R94C	ENSP00000293973:R94C	R	+	1	0	NTN3	2461983	1.000000	0.71417	0.975000	0.42487	0.041000	0.13682	5.587000	0.67510	1.864000	0.54056	0.448000	0.29417	CGC	NTN3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000162068		0.716	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1	-	0.00	52	0	C	NM_006181		2521982	+1	tier1	-	no_errors	ENST00000293973	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T
NUMA1	4926	genome.wustl.edu	37	11	71726383	71726384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr11:71726383_71726384insT	ENST00000393695.3	-	15	2496_2497	c.2165_2166insA	c.(2164-2166)aagfs	p.K722fs	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.K722fs|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGCCCTGCGCTTCTCCTCTTC	0.589			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0																																										SO:0001589	frameshift_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2166dupA	11.37:g.71726385_71726385dupT	ENSP00000377298:p.Lys722fs			Frame_Shift_Ins	INS	superfamily_Prefoldin	p.R723fs	ENST00000393695.3	37	c.2166_2165	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.589	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1		0.00	16	0	-			71726384	-1	tier1		no_errors	ENST00000393695	ensembl	human	known	74_37	frame_shift_ins	46.88	17	15	INS	0.967:1.000	T
NXPH3	11248	genome.wustl.edu	37	17	47656098	47656098	+	Silent	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:47656098C>T	ENST00000328741.5	+	2	557	c.195C>T	c.(193-195)ctC>ctT	p.L65L	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.L65L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	65	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ATTCCACTCTCCTAGGGCTGC	0.682																																																	0													31.0	35.0	33.0					17																	47656098		2202	4298	6500	SO:0001819	synonymous_variant	0			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.195C>T	17.37:g.47656098C>T			Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.L65	ENST00000328741.5	37	c.195	CCDS11550.1	17																																																																																			NXPH3	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000182575		0.682	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	-	0.00	95	0	C			47656098	+1	tier1	-	no_errors	ENST00000328741	ensembl	human	known	74_37	silent	24.73	69	23	SNP	0.790	T
OR10H1	26539	genome.wustl.edu	37	19	15918306	15918306	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:15918306A>G	ENST00000334920.2	-	1	630	c.542T>C	c.(541-543)gTg>gCg	p.V181A		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGAGGTGGCACATGGCAAGC	0.582																																																	0													193.0	151.0	166.0					19																	15918306		2203	4300	6503	SO:0001583	missense	0			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.542T>C	19.37:g.15918306A>G	ENSP00000335596:p.Val181Ala		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V181A	ENST00000334920.2	37	c.542	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	.	4.394	0.072742	0.08436	.	.	ENSG00000186723	ENST00000334920	T	0.38077	1.16	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.303860	0.23429	N	0.048273	T	0.35278	0.0926	L	0.56124	1.755	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.35674	-0.9779	10	0.87932	D	0	.	11.9541	0.52970	1.0:0.0:0.0:0.0	.	181	Q9Y4A9	O10H1_HUMAN	A	181	ENSP00000335596:V181A	ENSP00000335596:V181A	V	-	2	0	OR10H1	15779306	0.001000	0.12720	0.535000	0.28026	0.074000	0.17049	0.884000	0.28214	1.714000	0.51371	0.523000	0.50628	GTG	OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186723		0.582	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	-	0.00	138	0	A			15918306	-1	tier1	-	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	7.10	170	13	SNP	0.020	G
PANK4	55229	genome.wustl.edu	37	1	2441583	2441583	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:2441583C>A	ENST00000378466.3	-	17	1964	c.1952G>T	c.(1951-1953)tGc>tTc	p.C651F	PANK4_ENST00000435556.3_Missense_Mutation_p.C612F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	651					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGAGTTGCACGCCAGGAT	0.657																																																	0													58.0	49.0	52.0					1																	2441583		2192	4295	6487	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1952G>T	1.37:g.2441583C>A	ENSP00000367727:p.Cys651Phe		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.C651F	ENST00000378466.3	37	c.1952	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490159	0.64074	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06528	3.29;3.29	5.03	5.03	0.67393	Domain of unknown function DUF89 (2);	0.137932	0.64402	D	0.000003	T	0.11965	0.0291	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.41748	0.761;0.593	P;B	0.44359	0.447;0.364	T	0.01162	-1.1432	10	0.87932	D	0	-36.8468	17.3398	0.87292	0.0:1.0:0.0:0.0	.	612;651	E9PHT6;Q9NVE7	.;PANK4_HUMAN	F	651;612	ENSP00000367727:C651F;ENSP00000421433:C612F	ENSP00000367727:C651F	C	-	2	0	PANK4	2431443	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.003000	0.76310	2.334000	0.79466	0.561000	0.74099	TGC	PANK4	-	pfam_DUF89,superfamily_DUF89,pirsf_PanK_long	ENSG00000157881		0.657	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	-	0.00	44	0	C			2441583	-1	tier1	-	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	33.90	38	20	SNP	1.000	A
PCDHB14	56122	genome.wustl.edu	37	5	140604553	140604553	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:140604553G>A	ENST00000239449.4	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P	PCDHB14_ENST00000515856.2_Silent_p.P339P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCAGGACC	0.657																																					Ovarian(141;50 1831 27899 33809 37648)												0													92.0	101.0	98.0					5																	140604553		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1476G>A	5.37:g.140604553G>A			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P492	ENST00000239449.4	37	c.1476	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0.00	211	0	G	NM_018934		140604553	+1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	6.82	164	12	SNP	0.028	A
PCDHGA5	56110	genome.wustl.edu	37	5	140745554	140745554	+	Silent	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:140745554C>T	ENST00000518069.1	+	1	1657	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTTTGTGCTGGACCAGAA	0.602																																																	0													184.0	199.0	194.0					5																	140745554		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1657C>T	5.37:g.140745554C>T			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L553	ENST00000518069.1	37	c.1657	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253485		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	83	0	C	NM_018918		140745554	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.010	T
PDE4DIP	9659	genome.wustl.edu	37	1	144882552	144882552	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:144882552G>A	ENST00000369354.3	-	24	3656	c.3467C>T	c.(3466-3468)tCc>tTc	p.S1156F	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1293F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1293F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1156F|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1156					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCCAGGGGAACCAACCAG	0.522			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													145.0	137.0	140.0					1																	144882552		2203	4296	6499	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3467C>T	1.37:g.144882552G>A	ENSP00000358360:p.Ser1156Phe		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1156F	ENST00000369354.3	37	c.3467	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104426	0.56291	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01560	4.77;4.77;4.77;4.77	5.99	0.685	0.18009	.	.	.	.	.	T	0.00967	0.0032	L	0.51422	1.61	0.09310	N	0.999999	D	0.56521	0.976	P	0.51016	0.656	T	0.47724	-0.9095	9	0.15499	T	0.54	.	6.2115	0.20631	0.2181:0.2464:0.5356:0.0	.	1156	Q5VU43	MYOME_HUMAN	F	1156;1156;1293;1293	ENSP00000358360:S1156F;ENSP00000358363:S1156F;ENSP00000435654:S1293F;ENSP00000358366:S1293F	ENSP00000358360:S1156F	S	-	2	0	PDE4DIP	143593909	0.017000	0.18338	0.000000	0.03702	0.072000	0.16883	1.917000	0.39996	0.123000	0.18342	0.655000	0.94253	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	210	0	G	NM_022359		144882552	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	9.93	271	30	SNP	0.001	A
PLGLB2	5342	genome.wustl.edu	37	2	88047674	88047674	+	Start_Codon_SNP	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:88047674T>C	ENST00000359481.4	+	1	69	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_002665.4	NP_002656.1	Q02325	PLGB_HUMAN	plasminogen-like B2	1						extracellular region (GO:0005576)											AGTCCCAAAATGGAACATAAG	0.373																																																	0													2.0	1.0	2.0					2																	88047674		905	1902	2807	SO:0001582	initiator_codon_variant	0			M86871, M93143	CCDS1999.1	2p11.2	2013-09-24	2005-03-31	2005-03-31	ENSG00000125551	ENSG00000125551			9073	protein-coding gene	gene with protein product			"""plasminogen pseudogene 1"""	PLGP1		1986355	Standard	NM_002665		Approved		uc002ssd.3	Q02325	OTTHUMG00000153273	ENST00000359481.4:c.2T>C	2.37:g.88047674T>C	ENSP00000352458:p.Met1Thr		Q580R1	Missense_Mutation	SNP	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	p.M1T	ENST00000359481.4	37	c.2	CCDS1999.1	2	.	.	.	.	.	.	.	.	.	.	t	14.62	2.590889	0.46214	.	.	ENSG00000125551	ENST00000359481	T	0.66280	-0.2	0.812	0.812	0.18744	.	.	.	.	.	T	0.62502	0.2433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62553	-0.6830	6	0.87932	D	0	.	3.9233	0.09253	0.0:0.0:0.0:1.0	.	.	.	.	T	1	ENSP00000352458:M1T	ENSP00000352458:M1T	M	+	2	0	PLGLB2	87828789	1.000000	0.71417	0.931000	0.37212	0.687000	0.40016	1.929000	0.40114	0.624000	0.30286	0.155000	0.16302	ATG	PLGLB2	-	NULL	ENSG00000125551		0.373	PLGLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB2	HGNC	protein_coding	OTTHUMT00000252605.2	-	0.00	54	0	T	NM_002665	Missense_Mutation	88047674	+1	tier1	-	no_errors	ENST00000359481	ensembl	human	known	74_37	missense	29.79	66	28	SNP	0.953	C
PMP22	5376	genome.wustl.edu	37	17	15134264	15134264	+	Silent	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:15134264G>T	ENST00000395938.2	-	5	647	c.453C>A	c.(451-453)gtC>gtA	p.V151V	PMP22_ENST00000494511.1_Missense_Mutation_p.H92N|PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Silent_p.V151V	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	151					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCACATAGATGACACCGCTGA	0.582																																																	0													86.0	80.0	82.0					17																	15134264		2203	4300	6503	SO:0001819	synonymous_variant	0			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.453C>A	17.37:g.15134264G>T			Q8WV01	Missense_Mutation	SNP	NULL	p.H92N	ENST00000395938.2	37	c.274	CCDS11168.1	17																																																																																			PMP22	-	NULL	ENSG00000109099		0.582	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	-	0.00	33	0	G	NM_000304		15134264	-1	tier1	-	no_errors	ENST00000494511	ensembl	human	novel	74_37	missense	39.47	23	15	SNP	0.283	T
PPP1R13L	10848	genome.wustl.edu	37	19	45900156	45900156	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:45900156G>A	ENST00000418234.2	-	4	437	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S120L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	120	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTGCGCGGCGACGACGGCCG	0.736																																					Pancreas(61;1447 1663 31419 50578)												0													14.0	19.0	17.0					19																	45900156		2172	4244	6416	SO:0001583	missense	0			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.359C>T	19.37:g.45900156G>A	ENSP00000403902:p.Ser120Leu		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.S120L	ENST00000418234.2	37	c.359	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382382	0.42207	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.59638	0.25;0.25	5.02	3.99	0.46301	.	0.532890	0.19954	N	0.102352	T	0.35913	0.0948	N	0.24115	0.695	0.26787	N	0.969486	B;B	0.20459	0.045;0.004	B;B	0.13407	0.009;0.002	T	0.22452	-1.0216	10	0.05436	T	0.98	.	9.5117	0.39080	0.099:0.0:0.901:0.0	.	120;120	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	L	120	ENSP00000403902:S120L;ENSP00000354218:S120L	ENSP00000354218:S120L	S	-	2	0	PPP1R13L	50591996	0.995000	0.38212	0.100000	0.21137	0.021000	0.10359	5.454000	0.66651	1.242000	0.43836	0.462000	0.41574	TCG	PPP1R13L	-	NULL	ENSG00000104881		0.736	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	-	0.00	20	0	G	NM_006663		45900156	-1	tier1	-	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.510	A
PPP2R3B	28227	genome.wustl.edu	37	X	307473	307473	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:307473T>C	ENST00000390665.3	-	5	773	c.755A>G	c.(754-756)aAg>aGg	p.K252R		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	252					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACGCCTCCTTCAGGAACGA	0.706																																																	0													56.0	68.0	64.0					X																	307473		2079	4210	6289	SO:0001583	missense	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.755A>G	X.37:g.307473T>C	ENSP00000375080:p.Lys252Arg		Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K252R	ENST00000390665.3	37	c.755	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	T	9.076	0.998185	0.19043	.	.	ENSG00000167393	ENST00000390665	T	0.31510	1.49	0.789	0.789	0.18607	.	0.237693	0.33591	U	0.004744	T	0.16981	0.0408	N	0.25890	0.77	0.09310	N	1	B;B	0.22746	0.074;0.002	B;B	0.28553	0.091;0.008	T	0.10543	-1.0625	10	0.36615	T	0.2	.	2.8139	0.05450	0.0:0.3314:0.0:0.6686	.	91;252	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	R	252	ENSP00000375080:K252R	ENSP00000375080:K252R	K	-	2	0	PPP2R3B	227473	1.000000	0.71417	0.994000	0.49952	0.523000	0.34469	2.209000	0.42806	0.589000	0.29677	0.097000	0.15509	AAG	PPP2R3B	-	NULL	ENSG00000167393		0.706	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	-	0.00	77	0	T	NM_013239		307473	-1	tier1	-	no_errors	ENST00000390665	ensembl	human	known	74_37	missense	56.79	35	46	SNP	1.000	C
PREX1	57580	genome.wustl.edu	37	20	47364399	47364399	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:47364399G>A	ENST00000371941.3	-	2	260	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	PREX1_ENST00000396220.1_Missense_Mutation_p.R80W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	80	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACGTTCTGCCGGATGCGATGC	0.592																																																	0													98.0	87.0	91.0					20																	47364399		2203	4300	6503	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.238C>T	20.37:g.47364399G>A	ENSP00000361009:p.Arg80Trp		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R80W	ENST00000371941.3	37	c.238	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824252	0.71143	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66280	-0.2;-0.2	4.58	4.58	0.56647	Dbl homology (DH) domain (5);	0.000000	0.45126	U	0.000387	T	0.78181	0.4243	M	0.80332	2.49	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	T	0.81236	-0.1024	10	0.72032	D	0.01	.	13.0948	0.59187	0.0:0.0:0.839:0.161	.	80	Q8TCU6	PREX1_HUMAN	W	80	ENSP00000361009:R80W;ENSP00000379522:R80W	ENSP00000361009:R80W	R	-	1	2	PREX1	46797806	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.258000	0.43249	2.377000	0.81083	0.448000	0.29417	CGG	PREX1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000124126		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0.00	26	0	G	NM_020820		47364399	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48734271	48734271	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:48734271T>C	ENST00000314191.2	-	66	9058	c.9002A>G	c.(9001-9003)tAc>tGc	p.Y3001C	PRKDC_ENST00000338368.3_Missense_Mutation_p.Y3001C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3002	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAGGTGGTTGTAACAGTCAAG	0.438								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													61.0	60.0	60.0					8																	48734271		1852	4101	5953	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9002A>G	8.37:g.48734271T>C	ENSP00000313420:p.Tyr3001Cys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y3001C	ENST00000314191.2	37	c.9002		8	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779065	0.70107	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02763	4.24;4.17	5.4	5.4	0.78164	PIK-related kinase (1);	0.000000	0.64402	D	0.000001	T	0.08758	0.0217	M	0.78049	2.395	0.80722	D	1	P;P	0.46621	0.881;0.881	P;P	0.46796	0.527;0.527	T	0.08848	-1.0702	10	0.38643	T	0.18	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	3001;3002	E7EUY0;P78527	.;PRKDC_HUMAN	C	3001	ENSP00000313420:Y3001C;ENSP00000345182:Y3001C	ENSP00000313420:Y3001C	Y	-	2	0	PRKDC	48896824	1.000000	0.71417	0.917000	0.36280	0.927000	0.56198	7.655000	0.83696	2.167000	0.68274	0.528000	0.53228	TAC	PRKDC	-	pfscan_PIK_FAT	ENSG00000253729		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	58	0	T	NM_001081640		48734271	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	42.55	54	40	SNP	1.000	C
PRKDC	5591	genome.wustl.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	-	T	rs537061158	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr8:48866909_48866910insT	ENST00000314191.2	-	5	552_553	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.I166fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.497dupA	8.37:g.48866919_48866919dupT	ENSP00000313420:p.Ile166fs		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I166fs	ENST00000314191.2	37	c.497_496		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.267	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0.00	65	0	-	NM_001081640		48866910	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_ins	25.77	72	25	INS	0.999:0.999	T
PTEN	5728	genome.wustl.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	GRCh37	CM971273	PTEN	M	rs121909224						141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130*	ENST00000371953.3	37	c.388	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0.00	96	0	C	NM_000314		89692904	+1	tier1	rs121909224	no_errors	ENST00000371953	ensembl	human	known	74_37	nonsense	9.09	80	8	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89717762	89717762	+	Nonsense_Mutation	SNP	A	A	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr10:89717762A>T	ENST00000371953.3	+	7	2144	c.787A>T	c.(787-789)Aag>Tag	p.K263*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	263	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACAGAACAAGATGCTAAA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)|kidney(1)											97.0	88.0	91.0					10																	89717762		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.787A>T	10.37:g.89717762A>T	ENSP00000361021:p.Lys263*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K263*	ENST00000371953.3	37	c.787	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	49	15.476535	0.99835	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.093551	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1303	14.9657	0.71193	1.0:0.0:0.0:0.0	.	.	.	.	X	263	.	.	K	+	1	0	PTEN	89707742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	AAG	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0.00	64	0	A	NM_000314		89717762	+1	tier1	-	no_errors	ENST00000371953	ensembl	human	known	74_37	nonsense	55.00	36	44	SNP	1.000	T
AARSD1	80755	genome.wustl.edu	37	17	41113275	41113275	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:41113275G>T	ENST00000427569.2	-	3	300	c.265C>A	c.(265-267)Cca>Aca	p.P89T	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.P263T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.P263T|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.P172T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.P202T|AARSD1_ENST00000416949.1_5'UTR	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	89					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGCTTCCTGGATCCAGGGGT	0.567																																																	0													164.0	145.0	152.0					17																	41113275		2203	4300	6503	SO:0001583	missense	0			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.265C>A	17.37:g.41113275G>T	ENSP00000400870:p.Pro89Thr		B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core	p.P263T	ENST00000427569.2	37	c.787	CCDS58552.1	17	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139022	0.37728	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	4.18	4.18	0.49190	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.253694	0.33875	N	0.004480	T	0.79616	0.4476	L	0.52266	1.64	0.38198	D	0.940112	D;D;P;P;P	0.58268	0.982;0.973;0.947;0.947;0.741	P;P;P;P;P	0.58013	0.818;0.831;0.725;0.725;0.491	T	0.81024	-0.1120	9	0.36615	T	0.2	-11.4696	16.6939	0.85329	0.0:0.0:1.0:0.0	.	202;263;172;220;89	Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;.;AASD1_HUMAN	T	202;263;263;89;172	ENSP00000353355:P202T;ENSP00000386621:P263T;ENSP00000409924:P263T;ENSP00000400870:P89T;ENSP00000386254:P172T	ENSP00000353355:P202T	P	-	1	0	AARSD1	38366801	1.000000	0.71417	0.901000	0.35422	0.020000	0.10135	3.944000	0.56629	2.157000	0.67596	0.542000	0.68232	CCA	PTGES3L-AARSD1	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core	ENSG00000108825		0.567	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	-	0.00	65	0	G	NM_001261434		41113275	-1	tier1	-	no_errors	ENST00000409399	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.994	T
PTGIS	5740	genome.wustl.edu	37	20	48130860	48130860	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:48130860G>A	ENST00000244043.4	-	7	957	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	310					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGCTCTCCGCGGACAGCAGCC	0.587																																																	0													56.0	52.0	53.0					20																	48130860		2203	4300	6503	SO:0001583	missense	0				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.928C>T	20.37:g.48130860G>A	ENSP00000244043:p.Arg310Cys		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.R310C	ENST00000244043.4	37	c.928	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202544	0.58234	.	.	ENSG00000124212	ENST00000244043	T	0.01705	4.68	4.1	3.15	0.36227	.	0.577942	0.15393	N	0.264738	T	0.02455	0.0075	M	0.72894	2.215	0.27370	N	0.955721	P	0.41080	0.737	B	0.30105	0.111	T	0.37731	-0.9693	10	0.48119	T	0.1	-2.1553	9.6497	0.39890	0.105:0.0:0.895:0.0	.	310	Q16647	PTGIS_HUMAN	C	310	ENSP00000244043:R310C	ENSP00000244043:R310C	R	-	1	0	PTGIS	47564267	0.718000	0.27976	0.185000	0.23176	0.212000	0.24457	1.708000	0.37899	0.843000	0.35070	0.561000	0.74099	CGC	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000124212		0.587	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2	-	0.00	29	0	G			48130860	-1	tier1	-	no_errors	ENST00000244043	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.179	A
RARG	5916	genome.wustl.edu	37	12	53621213	53621213	+	Silent	SNP	G	G	A	rs556025298		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:53621213G>A	ENST00000425354.2	-	3	604	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Silent_p.F39F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	39	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCAGCATCTCGAAAGGCGGAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.0		0.001	False		,,,				2504	0.0																0													45.0	49.0	48.0					12																	53621213		2203	4300	6503	SO:0001819	synonymous_variant	0			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.117C>T	12.37:g.53621213G>A			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.F39	ENST00000425354.2	37	c.117	CCDS8850.1	12																																																																																			RARG	-	NULL	ENSG00000172819		0.642	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	-	0.00	117	0	G	NM_000966		53621213	-1	tier1	-	no_errors	ENST00000394426	ensembl	human	known	74_37	silent	22.06	106	30	SNP	0.998	A
RB1	5925	genome.wustl.edu	37	13	48955516	48955516	+	Frame_Shift_Del	DEL	A	A	-	rs143948310	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr13:48955516delA	ENST00000267163.4	+	17	1770	c.1632delA	c.(1630-1632)agafs	p.R544fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	544	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTGACAAGAGAAATGATAA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											83.0	78.0	80.0					13																	48955516		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1632delA	13.37:g.48955516delA	ENSP00000267163:p.Arg544fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E545fs	ENST00000267163.4	37	c.1632	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0.00	31	0	A			48955516	+1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	65.91	15	29	DEL	1.000	-
RCAN1	1827	genome.wustl.edu	37	21	35893948	35893948	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr21:35893948G>T	ENST00000313806.4	-	3	565	c.435C>A	c.(433-435)caC>caA	p.H145Q	RCAN1_ENST00000443408.2_Missense_Mutation_p.H10Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.H135Q|RCAN1_ENST00000487990.1_Missense_Mutation_p.H10Q|RCAN1_ENST00000381132.2_Missense_Mutation_p.H90Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000492600.1_Missense_Mutation_p.H90Q|RCAN1_ENST00000399272.1_Missense_Mutation_p.H64Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.H10Q|RCAN1_ENST00000481448.1_Missense_Mutation_p.H135Q	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	145					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGCTTCCTATGTGTAAGGTCT	0.547																																																	0													72.0	75.0	74.0					21																	35893948		2203	4300	6503	SO:0001583	missense	0				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.435C>A	21.37:g.35893948G>T	ENSP00000320768:p.His145Gln		D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	pfam_Calcipressin	p.H145Q	ENST00000313806.4	37	c.435	CCDS13637.1	21	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122582	0.37436	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.42	4.54	0.55810	.	0.101512	0.64402	D	0.000001	T	0.63792	0.2541	L	0.42245	1.32	0.58432	D	0.999998	D;B;D;P	0.89917	1.0;0.012;0.997;0.535	D;B;D;B	0.91635	0.999;0.03;0.986;0.2	T	0.58956	-0.7544	9	0.12430	T	0.62	-8.3332	10.7076	0.45965	0.154:0.0:0.846:0.0	.	90;145;64;90	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	Q	10;145;90;64;135;10;135;10	.	ENSP00000320768:H145Q	H	-	3	2	RCAN1	34815818	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.773000	0.55333	1.283000	0.44513	0.655000	0.94253	CAC	RCAN1	-	pfam_Calcipressin	ENSG00000159200		0.547	RCAN1-001	KNOWN	basic|CCDS	protein_coding	RCAN1	HGNC	protein_coding	OTTHUMT00000194142.1	-	0.00	45	0	G			35893948	-1	tier1	-	no_errors	ENST00000313806	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
RHBDF2	79651	genome.wustl.edu	37	17	74467981	74467981	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:74467981C>T	ENST00000313080.4	-	19	2578	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	RHBDF2_ENST00000591885.1_Missense_Mutation_p.D740N|RHBDF2_ENST00000389760.4_Missense_Mutation_p.D740N	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	769					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCGATGTTGTCGATCCAGGGC	0.622																																																	0													129.0	86.0	101.0					17																	74467981		2197	4293	6490	SO:0001583	missense	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2305G>A	17.37:g.74467981C>T	ENSP00000322775:p.Asp769Asn		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.D769N	ENST00000313080.4	37	c.2305	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874230	0.91664	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.12879	2.64;2.64	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.055614	0.64402	D	0.000002	T	0.37812	0.1017	M	0.78344	2.41	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64321	0.924;0.914	T	0.36432	-0.9748	10	0.87932	D	0	-43.1995	17.4416	0.87566	0.0:1.0:0.0:0.0	.	769;740	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	N	769;740	ENSP00000322775:D769N;ENSP00000374410:D740N	ENSP00000322775:D769N	D	-	1	0	RHBDF2	71979576	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.582000	0.82546	2.376000	0.81061	0.467000	0.42956	GAC	RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000129667		0.622	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	-	0.00	44	0	C	NM_024599		74467981	-1	tier1	-	no_errors	ENST00000313080	ensembl	human	known	74_37	missense	27.96	67	26	SNP	1.000	T
RNF216	54476	genome.wustl.edu	37	7	5760759	5760759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:5760759G>A	ENST00000425013.2	-	9	1602	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	RNF216_ENST00000389902.3_Nonsense_Mutation_p.R517*	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	460					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAATGTCGTCGCTTATTTTCA	0.428																																																	0													151.0	143.0	146.0					7																	5760759		2203	4300	6503	SO:0001587	stop_gained	0			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1378C>T	7.37:g.5760759G>A	ENSP00000404602:p.Arg460*		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Nonsense_Mutation	SNP	smart_Znf_C6HC	p.R517*	ENST00000425013.2	37	c.1549	CCDS34595.1	7	.	.	.	.	.	.	.	.	.	.	G	41	9.162181	0.99085	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	.	.	.	5.6	5.6	0.85130	.	0.136777	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5891	12.264	0.54668	0.0:0.0:0.732:0.2679	.	.	.	.	X	460;517;272	.	ENSP00000374552:R517X	R	-	1	2	RNF216	5727285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.306000	0.59117	2.649000	0.89929	0.484000	0.47621	CGA	RNF216	-	NULL	ENSG00000011275		0.428	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	-	0.00	51	0	G	NM_207111		5760759	-1	tier1	-	no_errors	ENST00000389902	ensembl	human	known	74_37	nonsense	30.99	49	22	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71375666	71375666	+	Nonsense_Mutation	SNP	G	G	C	rs141328074		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:71375666G>C	ENST00000392650.3	-	35	4785	c.4785C>G	c.(4783-4785)taC>taG	p.Y1595*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.Y1576*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1595	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCGTATCTCGTACCGCCTGT	0.652																																																	0													67.0	49.0	55.0					17																	71375666		2203	4300	6503	SO:0001587	stop_gained	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4785C>G	17.37:g.71375666G>C	ENSP00000376421:p.Tyr1595*		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y1595*	ENST00000392650.3	37	c.4785	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.027881	0.97216	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	4.61	-6.01	0.02199	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1319	0.72530	0.7637:0.0:0.2363:0.0	.	.	.	.	X	1219;1595;1576;752;1595	.	ENSP00000324967:Y1595X	Y	-	3	2	SDK2	68887261	0.111000	0.22076	0.346000	0.25655	0.914000	0.54420	-0.360000	0.07622	-0.966000	0.03587	-1.165000	0.01757	TAC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0.00	34	0	G	NM_019064		71375666	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	nonsense	32.50	54	26	SNP	0.693	C
SETX	23064	genome.wustl.edu	37	9	135173511	135173511	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr9:135173511C>G	ENST00000224140.5	-	13	5919	c.5737G>C	c.(5737-5739)Gac>Cac	p.D1913H	SETX_ENST00000393220.1_Missense_Mutation_p.D1913H|SETX_ENST00000372169.2_Missense_Mutation_p.D1913H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1913					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)		GTACAGAAGTCCATAGGGTTT	0.378																																																	0													123.0	118.0	119.0					9																	135173511		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.5737G>C	9.37:g.135173511C>G	ENSP00000224140:p.Asp1913His		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D1913H	ENST00000224140.5	37	c.5737	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573446	0.65765	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90732	-2.22;-2.72;-2.31;-1.92	5.73	3.88	0.44766	.	2.357600	0.01778	N	0.031580	D	0.93284	0.7860	L	0.36672	1.1	0.35205	D	0.774596	P;D;D	0.76494	0.657;0.998;0.999	B;D;D	0.68483	0.3;0.909;0.958	T	0.81699	-0.0814	10	0.72032	D	0.01	.	10.0288	0.42087	0.0:0.8428:0.0:0.1572	.	1913;1913;1913	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	1913;155;1913;1913	ENSP00000224140:D1913H;ENSP00000409143:D155H;ENSP00000361242:D1913H;ENSP00000376913:D1913H	ENSP00000224140:D1913H	D	-	1	0	SETX	134163332	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.766000	0.47629	0.745000	0.32763	0.591000	0.81541	GAC	SETX	-	superfamily_P-loop_NTPase	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0.00	32	0	C	NM_015046		135173511	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	G
SHANK3	85358	genome.wustl.edu	37	22	51117786	51117786	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr22:51117786A>C	ENST00000414786.2	+	7	1042	c.815A>C	c.(814-816)tAt>tCt	p.Y272S	SHANK3_ENST00000262795.3_Missense_Mutation_p.Y272S|SHANK3_ENST00000445220.2_Missense_Mutation_p.Y272S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	272					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCTGTTCTATGGGGCAGAC	0.642																																																	0													41.0	50.0	47.0					22																	51117786		2185	4289	6474	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.815A>C	22.37:g.51117786A>C	ENSP00000464552:p.Tyr272Ser		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Y272S	ENST00000414786.2	37	c.815		22	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116536	0.56505	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.63744	-0.06;-0.06	5.34	5.34	0.76211	.	.	.	.	.	T	0.66723	0.2818	N	0.17872	0.535	0.33854	D	0.632921	D	0.76494	0.999	D	0.83275	0.996	T	0.76702	-0.2862	9	0.72032	D	0.01	.	13.2881	0.60255	1.0:0.0:0.0:0.0	.	272	F2Z3L0	.	S	272	ENSP00000442518:Y272S;ENSP00000446078:Y272S	ENSP00000442518:Y272S	Y	+	2	0	SHANK3	49464652	1.000000	0.71417	0.925000	0.36789	0.220000	0.24768	7.244000	0.78228	2.023000	0.59567	0.529000	0.55759	TAT	SHANK3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000251322		0.642	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0.00	65	0	A	NM_001080420		51117786	+1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	30.77	71	32	SNP	0.998	C
SKOR1	390598	genome.wustl.edu	37	15	68124644	68124644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr15:68124644G>T	ENST00000380035.2	+	6	2678	c.2620G>T	c.(2620-2622)Gag>Tag	p.E874*	SKOR1_ENST00000554240.1_Nonsense_Mutation_p.E835*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.E846*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.E830*|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Nonsense_Mutation_p.E777*|RP11-34F13.2_ENST00000502156.1_lincRNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	874					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)	p.E830K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGAACAAATGGAGCTCCGCAA	0.532											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											135.0	137.0	136.0					15																	68124644		2200	4298	6498	SO:0001587	stop_gained	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.2620G>T	15.37:g.68124644G>T	ENSP00000369374:p.Glu874*	1104	A6NIP4|A6NJY0|Q2VWA5	Nonsense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.E874*	ENST00000380035.2	37	c.2620		15	.	.	.	.	.	.	.	.	.	.	G	42	9.286499	0.99125	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	.	.	.	5.33	5.33	0.75918	.	0.059324	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-20.6609	16.7928	0.85593	0.0:0.0:1.0:0.0	.	.	.	.	X	777;835;846;874;830	.	ENSP00000343200:E777X	E	+	1	0	SKOR1	65911698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.923000	0.92808	2.492000	0.84095	0.561000	0.74099	GAG	SKOR1	-	NULL	ENSG00000188779		0.532	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	-	0.00	28	0	G	NM_001031807		68124644	+1	tier1	-	no_errors	ENST00000380035	ensembl	human	known	74_37	nonsense	17.78	37	8	SNP	1.000	T
SLC25A4	291	genome.wustl.edu	37	4	186066978	186066978	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:186066978G>T	ENST00000281456.6	+	3	796	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	222					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GAGTGTGACGGCAGTCGCAGG	0.547																																																	0													107.0	84.0	92.0					4																	186066978		2203	4300	6503	SO:0001583	missense	0			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.664G>T	4.37:g.186066978G>T	ENSP00000281456:p.Ala222Ser		D3DP59	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.A222S	ENST00000281456.6	37	c.664	CCDS34114.1	4	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169165	0.57584	.	.	ENSG00000151729	ENST00000281456	T	0.81163	-1.46	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.19148	0.024	T	0.74535	-0.3633	10	0.59425	D	0.04	0.3013	19.6787	0.95950	0.0:0.0:1.0:0.0	.	222	P12235	ADT1_HUMAN	S	222	ENSP00000281456:A222S	ENSP00000281456:A222S	A	+	1	0	SLC25A4	186303972	1.000000	0.71417	0.226000	0.23910	0.445000	0.32107	9.640000	0.98453	2.884000	0.98904	0.655000	0.94253	GCA	SLC25A4	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	ENSG00000151729		0.547	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A4	HGNC	protein_coding	OTTHUMT00000259170.3	-	0.00	50	0	G	NM_001151		186066978	+1	tier1	-	no_errors	ENST00000281456	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168310287	168310287	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr5:168310287G>A	ENST00000519560.1	-	5	887	c.468C>T	c.(466-468)atC>atT	p.I156I	SLIT3_ENST00000332966.8_Silent_p.I156I|SLIT3_ENST00000404867.3_Silent_p.I156I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	156					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)			TCACATCGGTGATGCCGCGGA	0.502																																					Ovarian(29;311 847 10864 17279 24903)												0													140.0	113.0	122.0					5																	168310287		2203	4300	6503	SO:0001819	synonymous_variant	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.468C>T	5.37:g.168310287G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	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.I156	ENST00000519560.1	37	c.468	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	44	0	G	NM_003062		168310287	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.996	A
SMAP1	60682	genome.wustl.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																																	1	Deletion - Frameshift(1)	prostate(1)											23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.K172fs	ENST00000370455.3	37	c.506	CCDS43478.1	6																																																																																			SMAP1	-	NULL	ENSG00000112305		0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1		0.00	28	0	A	NM_001044305		71508370	+1	tier1		no_errors	ENST00000370455	ensembl	human	known	74_37	frame_shift_del	6.78	55	4	DEL	1.000	-
SMARCC2	6601	genome.wustl.edu	37	12	56574884	56574884	+	Splice_Site	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr12:56574884G>A	ENST00000267064.4	-	11	1044	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	SMARCC2_ENST00000347471.4_Splice_Site_p.P320S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank|SMARCC2_ENST00000550164.1_Splice_Site_p.P320S|SMARCC2_ENST00000394023.3_Splice_Site_p.P320S	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	320					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGTGTTGAGGGACTGGGAAGG	0.502																																																	0													175.0	155.0	161.0					12																	56574884		2203	4300	6503	SO:0001630	splice_region_variant	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.957-1C>T	12.37:g.56574884G>A			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.P320S	ENST00000267064.4	37	c.958	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794236	0.50102	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.42900	0.96;0.96;0.97	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.31420	0.93	0.48571	D	0.999671	D;D;D;D;D	0.60575	0.98;0.988;0.98;0.98;0.988	D;D;D;D;D	0.75484	0.968;0.986;0.968;0.968;0.986	T	0.37596	-0.9699	10	0.24483	T	0.36	-10.4397	16.3131	0.82904	0.0:0.0:1.0:0.0	.	209;320;325;320;320	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	S	320	ENSP00000449396:P320S;ENSP00000302919:P320S;ENSP00000267064:P320S	ENSP00000267064:P320S	P	-	1	0	SMARCC2	54861151	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.066000	0.71185	2.572000	0.86782	0.555000	0.69702	CCC	SMARCC2	-	superfamily_Chromodomain-like	ENSG00000139613		0.502	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	-	0.00	87	0	G		Missense_Mutation	56574884	-1	tier1	-	no_errors	ENST00000267064	ensembl	human	known	74_37	missense	22.22	91	26	SNP	1.000	A
SMYD1	150572	genome.wustl.edu	37	2	88405895	88405895	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:88405895G>C	ENST00000419482.2	+	8	1118	c.1033G>C	c.(1033-1035)Gac>Cac	p.D345H	SMYD1_ENST00000444564.2_Missense_Mutation_p.D332H|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	345					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGTGTTTGCTGACACCAACAT	0.547																																																	0													174.0	130.0	145.0					2																	88405895		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1033G>C	2.37:g.88405895G>C	ENSP00000393453:p.Asp345His		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.D345H	ENST00000419482.2	37	c.1033	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406679	0.83230	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.085189	0.85682	D	0.000000	T	0.35393	0.0930	M	0.74881	2.28	0.80722	D	1	D	0.58268	0.982	B	0.43052	0.406	T	0.44128	-0.9348	10	0.72032	D	0.01	-25.1214	17.7486	0.88428	0.0:0.0:1.0:0.0	.	345	Q8NB12	SMYD1_HUMAN	H	345;332;166	ENSP00000393453:D345H;ENSP00000407888:D332H	ENSP00000295833:D166H	D	+	1	0	SMYD1	88187010	1.000000	0.71417	0.974000	0.42286	0.949000	0.60115	9.098000	0.94202	2.493000	0.84123	0.530000	0.56133	GAC	SMYD1	-	NULL	ENSG00000115593		0.547	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0.00	79	0	G	XM_097915		88405895	+1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	17.89	78	17	SNP	1.000	C
SNAP25	6616	genome.wustl.edu	37	20	10277646	10277646	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:10277646C>A	ENST00000254976.2	+	6	566	c.355C>A	c.(355-357)Cgt>Agt	p.R119S	SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.R119S|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	119					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.R119C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CCAGCCTGCTCGTGTAGTGGA	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											76.0	71.0	73.0					20																	10277646		2203	4300	6503	SO:0001583	missense	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.355C>A	20.37:g.10277646C>A	ENSP00000254976:p.Arg119Ser		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R119S	ENST00000254976.2	37	c.355	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741222	0.49151	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.86	5.86	0.93980	SNAP-25 (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72625	0.956;0.978	T	0.72798	-0.4184	9	0.15952	T	0.53	-2.2047	20.1996	0.98256	0.0:1.0:0.0:0.0	.	119;119	P60880-2;P60880	.;SNP25_HUMAN	S	119	.	ENSP00000254976:R119S	R	+	1	0	SNAP25	10225646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.776000	0.95493	0.650000	0.86243	CGT	SNAP25	-	pfam_SNAP-25	ENSG00000132639		0.517	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3		0.00	48	0	C	NM_130811		10277646	+1			no_errors	ENST00000254976	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A
SPTBN4	57731	genome.wustl.edu	37	19	41071628	41071628	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:41071628G>A	ENST00000352632.3	+	29	6202	c.6116G>A	c.(6115-6117)cGc>cAc	p.R2039H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2039H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2039H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R782H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2039					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGTGGGACCGCCATTGGGAG	0.637																																																	0													51.0	45.0	47.0					19																	41071628		2150	4236	6386	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6116G>A	19.37:g.41071628G>A	ENSP00000263373:p.Arg2039His		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2039H	ENST00000352632.3	37	c.6116	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037360	0.75617	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.53206	0.63;0.63;0.63	4.58	2.33	0.28932	.	0.209745	0.31199	U	0.008070	T	0.46171	0.1379	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.61201	0.885;0.778	T	0.39231	-0.9624	10	0.49607	T	0.09	.	7.176	0.25744	0.3068:0.0:0.6932:0.0	.	782;2039	C9JY79;Q9H254	.;SPTN4_HUMAN	H	2039;2039;2039;782	ENSP00000263373:R2039H;ENSP00000340345:R2039H;ENSP00000375879:R782H	ENSP00000340345:R2039H	R	+	2	0	SPTBN4	45763468	0.999000	0.42202	0.993000	0.49108	0.988000	0.76386	3.812000	0.55628	1.147000	0.42369	0.511000	0.50034	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	94	0	G			41071628	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	5.13	111	6	SNP	0.995	A
STOX2	56977	genome.wustl.edu	37	4	184931510	184931510	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:184931510G>T	ENST00000308497.4	+	3	2954	c.1519G>T	c.(1519-1521)Ggg>Tgg	p.G507W	STOX2_ENST00000438269.1_Missense_Mutation_p.G507W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	507					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTCTTCTCTAGGGACGCCGGA	0.547																																																	0													37.0	43.0	41.0					4																	184931510		1948	4158	6106	SO:0001583	missense	0			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1519G>T	4.37:g.184931510G>T	ENSP00000311257:p.Gly507Trp		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G507W	ENST00000308497.4	37	c.1519	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410180	0.62399	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.81078	-0.44;-1.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85995	0.5827	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86610	0.1872	10	0.87932	D	0	-30.1444	19.9142	0.97043	0.0:0.0:1.0:0.0	.	507;507	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	W	507	ENSP00000311257:G507W;ENSP00000390127:G507W	ENSP00000311257:G507W	G	+	1	0	STOX2	185168504	1.000000	0.71417	0.978000	0.43139	0.585000	0.36419	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GGG	STOX2	-	NULL	ENSG00000173320		0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0.00	38	0	G	NM_020225		184931510	+1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T
STOX2	56977	genome.wustl.edu	37	4	184932024	184932024	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr4:184932024G>C	ENST00000308497.4	+	3	3468	c.2033G>C	c.(2032-2034)gGa>gCa	p.G678A	STOX2_ENST00000438269.1_Missense_Mutation_p.G678A	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	678					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ATCGCCAACGGACGCCTCGTC	0.602																																																	0													20.0	24.0	23.0					4																	184932024		1974	4130	6104	SO:0001583	missense	0			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2033G>C	4.37:g.184932024G>C	ENSP00000311257:p.Gly678Ala		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.G678A	ENST00000308497.4	37	c.2033	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111174	0.37242	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.78481	-0.19;-1.18	5.06	5.06	0.68205	.	0.058466	0.64402	D	0.000002	T	0.77205	0.4096	N	0.19112	0.55	0.54753	D	0.999985	D;B	0.58268	0.982;0.227	P;B	0.55615	0.78;0.075	T	0.79274	-0.1871	10	0.49607	T	0.09	-19.6352	18.6259	0.91338	0.0:0.0:1.0:0.0	.	678;678	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	A	678	ENSP00000311257:G678A;ENSP00000390127:G678A	ENSP00000311257:G678A	G	+	2	0	STOX2	185169018	1.000000	0.71417	0.900000	0.35374	0.404000	0.30871	6.685000	0.74543	2.643000	0.89663	0.650000	0.86243	GGA	STOX2	-	NULL	ENSG00000173320		0.602	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0.00	33	0	G	NM_020225		184932024	+1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	C
TAB2	23118	genome.wustl.edu	37	6	149721559	149721559	+	Intron	SNP	A	A	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:149721559A>T	ENST00000367456.1	+	7	2516				TAB2_ENST00000286332.5_Intron|SUMO4_ENST00000326669.4_Missense_Mutation_p.K11M|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GAAGAAGTCAAGACTGAGAAC	0.478																																																	0													58.0	55.0	56.0					6																	149721559		2203	4300	6503	SO:0001627	intron_variant	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1939+1239A>T	6.37:g.149721559A>T			B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K11M	ENST00000367456.1	37	c.32	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553958	0.45487	.	.	ENSG00000177688	ENST00000326669	T	0.22945	1.93	0.235	0.235	0.15431	.	0.000000	0.64402	U	0.000020	T	0.11793	0.0287	.	.	.	0.37475	D	0.915756	P	0.38110	0.618	B	0.42422	0.387	T	0.04796	-1.0926	9	0.72032	D	0.01	.	4.8392	0.13481	0.9998:0.0:2.0E-4:0.0	.	11	Q6EEV6	SUMO4_HUMAN	M	11	ENSP00000318635:K11M	ENSP00000318635:K11M	K	+	2	0	SUMO4	149763252	1.000000	0.71417	0.059000	0.19551	0.059000	0.15707	5.875000	0.69660	0.263000	0.21812	0.260000	0.18958	AAG	SUMO4	-	NULL	ENSG00000177688		0.478	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO4	HGNC	protein_coding	OTTHUMT00000042633.3	-	0.00	72	0	A			149721559	+1	tier1	-	no_errors	ENST00000326669	ensembl	human	known	74_37	missense	26.32	70	25	SNP	1.000	T
TAF1A	9015	genome.wustl.edu	37	1	222753163	222753163	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:222753163T>C	ENST00000352967.4	-	4	531	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	TAF1A_ENST00000543857.1_Missense_Mutation_p.M115V|TAF1A_ENST00000391882.1_Start_Codon_SNP_p.M1V|TAF1A_ENST00000366890.1_Start_Codon_SNP_p.M1V|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000350027.4_Missense_Mutation_p.M115V	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	115					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AAACTCTCCATGTTGCTTTTG	0.333																																																	0													102.0	111.0	108.0					1																	222753163		2202	4299	6501	SO:0001583	missense	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.343A>G	1.37:g.222753163T>C	ENSP00000327072:p.Met115Val		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.M115V	ENST00000352967.4	37	c.343	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072206	0.01918	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000543857	T;T;T	0.38077	1.16;1.16;1.17	6.17	-2.76	0.05896	.	0.550460	0.20886	N	0.083906	T	0.06371	0.0164	N	0.00642	-1.3	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33059	-0.9883	10	0.02654	T	1	-9.7706	2.9109	0.05737	0.1118:0.4159:0.1102:0.3621	.	115;115	B4DS21;Q15573	.;TAF1A_HUMAN	V	1;115;115;1;115	ENSP00000339976:M115V;ENSP00000327072:M115V;ENSP00000437725:M115V	ENSP00000339976:M115V	M	-	1	0	TAF1A	220819786	0.000000	0.05858	0.014000	0.15608	0.885000	0.51271	-1.911000	0.01583	-0.285000	0.09089	-0.772000	0.03388	ATG	TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.333	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	-	0.00	20	0	T	NM_005681		222753163	-1	tier1	-	no_errors	ENST00000350027	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.003	C
SUSD4	55061	genome.wustl.edu	37	1	223395466	223395466	+	3'UTR	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:223395466G>T	ENST00000343846.3	-	0	2174				SUSD4_ENST00000484758.2_3'UTR|SUSD4_ENST00000366878.4_3'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATCCTTCTGTGACCTCACTCC	0.483																																																	0													76.0	66.0	69.0					1																	223395466		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.*68C>A	1.37:g.223395466G>T			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	RNA	SNP	-	NULL	ENST00000343846.3	37	NULL	CCDS41471.1	1																																																																																			SUSD4	-	-	ENSG00000143502		0.483	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0.00	41	0	G	NM_017982		223395466	-1	tier1	-	no_errors	ENST00000478605	ensembl	human	known	74_37	rna	10.42	86	10	SNP	0.001	T
TP53	7157	genome.wustl.edu	37	17	7577566	7577568	+	In_Frame_Del	DEL	TAC	TAC	-	rs193920789		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	TAC	TAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr17:7577566_7577568delTAC	ENST00000269305.4	-	7	902_904	c.713_715delGTA	c.(712-717)tgtaac>tac	p.238_239CN>Y	TP53_ENST00000455263.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000445888.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000413465.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Del_p.238_239CN>Y|TP53_ENST00000359597.4_In_Frame_Del_p.238_239CN>Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		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.C238Y(65)|p.C238F(46)|p.N239D(33)|p.N239fs*25(12)|p.C238S(9)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.C145S(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAGTT	0.576		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"""	235	Substitution - Missense(173)|Insertion - Frameshift(18)|Deletion - In frame(15)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	breast(27)|ovary(26)|haematopoietic_and_lymphoid_tissue(23)|large_intestine(20)|lung(20)|endometrium(18)|oesophagus(18)|upper_aerodigestive_tract(13)|central_nervous_system(12)|urinary_tract(11)|biliary_tract(8)|pancreas(8)|soft_tissue(7)|stomach(6)|liver(6)|bone(6)|skin(3)|prostate(2)|meninges(1)	GRCh37	CM034930	TP53	M																																				SO:0001651	inframe_deletion	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.713_715delGTA	17.37:g.7577566_7577568delTAC	ENSP00000269305:p.Cys238_Asn239delinsTyr		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	In_Frame_Del	DEL	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.CN238in_frame_delY	ENST00000269305.4	37	c.715_713	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.576	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	65	0	TAC	NM_000546		7577568	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	60.00	32	48	DEL	1.000:0.999:1.000	-
TPX2	22974	genome.wustl.edu	37	20	30385276	30385276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr20:30385276C>T	ENST00000300403.6	+	16	2431	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q671*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170.0	175.0	173.0					20																	30385276		2203	4300	6503	SO:0001587	stop_gained	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>T	20.37:g.30385276C>T	ENSP00000300403:p.Gln635*		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.Q671*	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.027826	0.99320	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	X	635;671	.	ENSP00000300403:Q635X	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL	ENSG00000088325		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2		0.00	32	0	C			30385276	+1			no_errors	ENST00000340513	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T
TRIM73	375593	genome.wustl.edu	37	7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	rs199603365		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																																	0													1.0	2.0	2.0					7																	75028599		319	1397	1716	SO:0001583	missense	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL	ENSG00000178809		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	-	0.00	10	0	G			75028599	+1	tier1	rs199603365	no_errors	ENST00000323819	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
TRIM24	8805	genome.wustl.edu	37	7	138264148	138264148	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:138264148G>A	ENST00000343526.4	+	15	2671	c.2456G>A	c.(2455-2457)aGg>aAg	p.R819K	TRIM24_ENST00000415680.2_Missense_Mutation_p.R785K			O15164	TIF1A_HUMAN	tripartite motif containing 24	819					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAGAGACAAGGAAAGAGGAT	0.473																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													104.0	98.0	100.0					7																	138264148		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2456G>A	7.37:g.138264148G>A	ENSP00000340507:p.Arg819Lys		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.R819K	ENST00000343526.4	37	c.2456	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124768	0.37533	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.75589	-0.95;1.06	5.77	5.77	0.91146	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.191999	0.49305	D	0.000145	T	0.64713	0.2623	L	0.31664	0.95	0.39898	D	0.973868	P;P	0.41784	0.717;0.762	B;B	0.41271	0.138;0.352	T	0.63084	-0.6716	10	0.06099	T	0.92	-18.1036	19.5879	0.95497	0.0:0.0:1.0:0.0	.	819;785	O15164;O15164-2	TIF1A_HUMAN;.	K	819;730;785	ENSP00000340507:R819K;ENSP00000390829:R785K	ENSP00000340507:R819K	R	+	2	0	TRIM24	137914688	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	5.781000	0.68964	2.745000	0.94114	0.650000	0.86243	AGG	TRIM24	-	superfamily_Znf_FYVE_PHD	ENSG00000122779		0.473	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1		0.00	48	0	G	NM_015905		138264148	+1			no_errors	ENST00000343526	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2126084	2126084	+	Silent	SNP	C	C	T	rs137854232		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:2126084C>T	ENST00000219476.3	+	24	3285	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	TSC2_ENST00000568454.1_Silent_p.I896I|TSC2_ENST00000439673.2_Silent_p.I848I|TSC2_ENST00000401874.2_Silent_p.I885I|TSC2_ENST00000382538.6_Silent_p.I836I|TSC2_ENST00000353929.4_Silent_p.I885I|TSC2_ENST00000350773.4_Silent_p.I885I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	885					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAGTACATCGTGTGTCTGG	0.557			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													116.0	98.0	104.0					16																	2126084		2198	4299	6497	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2655C>T	16.37:g.2126084C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.I885	ENST00000219476.3	37	c.2655	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain,prints_Tuberin	ENSG00000103197		0.557	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	162	0	C	NM_000548		2126084	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	silent	11.36	156	20	SNP	0.936	T
TTLL2	83887	genome.wustl.edu	37	6	167754288	167754288	+	Silent	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr6:167754288C>T	ENST00000239587.5	+	3	988	c.900C>T	c.(898-900)agC>agT	p.S300S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	300	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGACCAACAGCAGCATCAATA	0.413																																																	0													137.0	145.0	142.0					6																	167754288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.900C>T	6.37:g.167754288C>T			B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	pfam_TTL/TTLL_fam	p.S300	ENST00000239587.5	37	c.900	CCDS5301.1	6																																																																																			TTLL2	-	pfam_TTL/TTLL_fam	ENSG00000120440		0.413	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	-	0.00	55	0	C	NM_031949		167754288	+1	tier1	-	no_errors	ENST00000239587	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	T
TTLL7	79739	genome.wustl.edu	37	1	84394840	84394840	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr1:84394840G>A	ENST00000260505.8	-	10	1498	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	374	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAGCTTCAACGCATTTAGCAG	0.333																																																	0													130.0	117.0	121.0					1																	84394840		2202	4300	6502	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1121C>T	1.37:g.84394840G>A	ENSP00000260505:p.Ala374Val		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A374V	ENST00000260505.8	37	c.1121	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096688	0.56075	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04275	3.66	4.96	4.96	0.65561	.	0.110120	0.64402	D	0.000008	T	0.02767	0.0083	L	0.28458	0.855	0.80722	D	1	D	0.54207	0.965	P	0.45660	0.489	T	0.62277	-0.6888	10	0.15499	T	0.54	.	18.613	0.91293	0.0:0.0:1.0:0.0	.	374	Q6ZT98	TTLL7_HUMAN	V	374;151;374	ENSP00000260505:A374V	ENSP00000260505:A374V	A	-	2	0	TTLL7	84167428	1.000000	0.71417	0.992000	0.48379	0.167000	0.22549	9.269000	0.95684	2.457000	0.83068	0.650000	0.86243	GCG	TTLL7	-	pfam_TTL/TTLL_fam	ENSG00000137941		0.333	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0.00	84	0	G	NM_024686		84394840	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	28.71	72	29	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179588345	179588345	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:179588345C>G	ENST00000591111.1	-	72	20755	c.20531G>C	c.(20530-20532)aGa>aCa	p.R6844T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7161T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5917T			Q8WZ42	TITIN_HUMAN	titin	12436	Ig-like 50.				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)			AGGGGTTCCTCTAATAACGCT	0.433																																																	0													55.0	51.0	53.0					2																	179588345		1851	4086	5937	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.20531G>C	2.37:g.179588345C>G	ENSP00000465570:p.Arg6844Thr		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_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R5917T	ENST00000591111.1	37	c.17750		2	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915646	0.17907	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	6.16	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47097	0.1427	N	0.16233	0.39	0.80722	D	1	B	0.17667	0.023	B	0.18561	0.022	T	0.45338	-0.9268	9	0.87932	D	0	.	11.7477	0.51830	0.0:0.8656:0.0:0.1344	.	6844	Q8WZ42	TITIN_HUMAN	T	5917	ENSP00000343764:R5917T	ENSP00000343764:R5917T	R	-	2	0	TTN	179296590	0.349000	0.24870	0.998000	0.56505	0.994000	0.84299	0.351000	0.20096	1.623000	0.50342	0.650000	0.86243	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	42	0	C	NM_133378		179588345	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.914	G
UROC1	131669	genome.wustl.edu	37	3	126211314	126211314	+	Missense_Mutation	SNP	G	G	A	rs201269614		TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr3:126211314G>A	ENST00000290868.2	-	16	1608	c.1555C>T	c.(1555-1557)Cgc>Tgc	p.R519C	UROC1_ENST00000383579.3_Missense_Mutation_p.R579C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	519					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ATGGCCACGCGGCCCTTCTGG	0.597																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	105.0	72.0	83.0		1735,1555	3.9	0.9	3		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	579/737,519/677	126211314	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1555C>T	3.37:g.126211314G>A	ENSP00000290868:p.Arg519Cys		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.R519C	ENST00000290868.2	37	c.1555	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207972	0.58343	0.0	1.16E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.66099	-0.19;-0.19	4.77	3.86	0.44501	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85430	0.1148	10	0.87932	D	0	-11.5406	7.8497	0.29446	0.0:0.1788:0.6366:0.1846	.	579;519	E9PE13;Q96N76	.;HUTU_HUMAN	C	519;579	ENSP00000290868:R519C;ENSP00000373073:R579C	ENSP00000290868:R519C	R	-	1	0	UROC1	127694004	1.000000	0.71417	0.916000	0.36221	0.655000	0.38815	4.194000	0.58393	0.928000	0.37168	0.460000	0.39030	CGC	UROC1	-	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	ENSG00000159650		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	-	0.00	46	0	G	NM_144639		126211314	-1	tier1	rs201269614	no_errors	ENST00000290868	ensembl	human	known	74_37	missense	18.29	67	15	SNP	1.000	A
USP34	9736	genome.wustl.edu	37	2	61472421	61472421	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr2:61472421T>C	ENST00000398571.2	-	51	6627	c.6551A>G	c.(6550-6552)tAt>tGt	p.Y2184C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2184	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTAAAAAGATACCTAAAATA	0.289																																																	0													80.0	72.0	75.0					2																	61472421		1816	4073	5889	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6551A>G	2.37:g.61472421T>C	ENSP00000381577:p.Tyr2184Cys		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.Y2184C	ENST00000398571.2	37	c.6551	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116519	0.77323	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.07327	3.2;3.2	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.55481	1.735	0.80722	D	1	P	0.44578	0.838	P	0.59948	0.866	T	0.00166	-1.1965	10	0.87932	D	0	.	15.5961	0.76583	0.0:0.0:0.0:1.0	.	2184	Q70CQ2	UBP34_HUMAN	C	2032;2032;2184;462	ENSP00000381577:Y2184C;ENSP00000410559:Y462C	ENSP00000263989:Y2032C	Y	-	2	0	USP34	61325925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.841000	0.86834	2.146000	0.66826	0.477000	0.44152	TAT	USP34	-	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	ENSG00000115464		0.289	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0.00	35	0	T			61472421	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	C
VPS41	27072	genome.wustl.edu	37	7	38794506	38794506	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:38794506C>G	ENST00000310301.4	-	20	1780	c.1726G>C	c.(1726-1728)Gat>Cat	p.D576H	VPS41_ENST00000395969.2_Missense_Mutation_p.D551H	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	576					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GAAATTTTATCTTCATTGTCC	0.338																																																	0													44.0	42.0	43.0					7																	38794506		2203	4300	6503	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1726G>C	7.37:g.38794506C>G	ENSP00000309457:p.Asp576His		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.D576H	ENST00000310301.4	37	c.1726	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.095575	0.94197	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.21191	2.02;2.02	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.02581	-1.1138	10	0.35671	T	0.21	-27.501	19.6476	0.95789	0.0:1.0:0.0:0.0	.	576;551;576	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	H	576;551	ENSP00000309457:D576H;ENSP00000379297:D551H	ENSP00000309457:D576H	D	-	1	0	VPS41	38761031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.653000	0.90120	0.655000	0.94253	GAT	VPS41	-	pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41	ENSG00000006715		0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	-	0.00	23	0	C			38794506	-1	tier1	-	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	G
ZCCHC18	644353	genome.wustl.edu	37	X	103359997	103359997	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chrX:103359997G>A	ENST00000537356.3	+	2	2609	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T	ZCCHC18_ENST00000422784.1_3'UTR|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	399							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										ACACAGTGATGCTTCTGAGCC	0.493																																																	0													55.0	46.0	48.0					X																	103359997		692	1591	2283	SO:0001583	missense	0			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1195G>A	X.37:g.103359997G>A	ENSP00000473824:p.Ala399Thr			Missense_Mutation	SNP	superfamily_Znf_CCHC	p.A399T	ENST00000537356.3	37	c.1195		X																																																																																			ZCCHC18	-	NULL	ENSG00000166707		0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	-	0.00	29	0	G	NM_001143978		103359997	+1	tier1	-	no_errors	ENST00000537356	ensembl	human	putative	74_37	missense	9.52	38	4	SNP	0.000	A
ZNF267	10308	genome.wustl.edu	37	16	31927357	31927357	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:31927357G>A	ENST00000300870.10	+	4	1996	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	596					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R596Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCGGCGAACTCATACT	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											70.0	74.0	73.0					16																	31927357		2197	4300	6497	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1787G>A	16.37:g.31927357G>A	ENSP00000300870:p.Arg596Gln		A0JNZ9|Q8NE41|Q9NRJ0	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.R596Q	ENST00000300870.10	37	c.1787	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	10.26	1.301044	0.23650	.	.	ENSG00000185947	ENST00000300870	T	0.02369	4.32	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	M	0.69358	2.11	0.18873	N	0.999982	P	0.35507	0.506	B	0.12156	0.007	T	0.41233	-0.9520	9	0.56958	D	0.05	.	2.8196	0.05467	0.3837:0.0:0.6163:0.0	.	596	Q14586	ZN267_HUMAN	Q	596	ENSP00000300870:R596Q	ENSP00000300870:R596Q	R	+	2	0	ZNF267	31834858	0.000000	0.05858	0.266000	0.24541	0.252000	0.25951	0.061000	0.14366	0.488000	0.27723	0.491000	0.48974	CGA	ZNF267	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185947		0.393	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	-	0.00	44	0	G	NM_003414		31927357	+1	tier1	-	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.130	A
ZNF394	84124	genome.wustl.edu	37	7	99097549	99097549	+	Silent	SNP	A	A	C			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr7:99097549A>C	ENST00000337673.6	-	1	371	c.168T>G	c.(166-168)gcT>gcG	p.A56A	ZNF394_ENST00000426306.2_Silent_p.A56A|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	56					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGTCCGGCGAAGCCGCGGGAT	0.637																																					Ovarian(24;589 697 9939 12704 40742)												0													47.0	49.0	48.0					7																	99097549		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.168T>G	7.37:g.99097549A>C			A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A56	ENST00000337673.6	37	c.168	CCDS5666.1	7																																																																																			ZNF394	-	superfamily_Retrov_capsid_C	ENSG00000160908		0.637	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	-	0.00	51	0	A	NM_032164		99097549	-1	tier1	-	no_errors	ENST00000337673	ensembl	human	known	74_37	silent	25.00	41	14	SNP	0.001	C
ZNF431	170959	genome.wustl.edu	37	19	21366096	21366096	+	Silent	SNP	C	C	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:21366096C>T	ENST00000311048.7	+	5	1134	c.990C>T	c.(988-990)acC>acT	p.T330T	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	330					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGTCTTCAACCCTTAGTACAC	0.383																																																	0													58.0	61.0	60.0					19																	21366096		2203	4300	6503	SO:0001819	synonymous_variant	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.990C>T	19.37:g.21366096C>T			A8KAK7|Q8IWC4	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.T330	ENST00000311048.7	37	c.990	CCDS32979.1	19																																																																																			ZNF431	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.383	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	-	0.00	58	0	C	XM_086098		21366096	+1	tier1	-	no_errors	ENST00000311048	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.010	T
ZNF415	55786	genome.wustl.edu	37	19	53619598	53619598	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:53619598A>G	ENST00000500065.4	-	3	437	c.104T>C	c.(103-105)aTg>aCg	p.M35T	ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000597503.1_Missense_Mutation_p.M35T|ZNF415_ENST00000243643.4_Missense_Mutation_p.M35T|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000600574.1_Missense_Mutation_p.M35T|ZNF415_ENST00000599261.1_Missense_Mutation_p.M35T|ZNF415_ENST00000595193.1_Missense_Mutation_p.M35T|ZNF415_ENST00000595813.1_Missense_Mutation_p.M35T|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000455735.2_Silent_p.D14D|ZNF415_ENST00000597748.1_Missense_Mutation_p.M35T|ZNF415_ENST00000594011.1_Missense_Mutation_p.M35T|ZNF415_ENST00000448501.1_Silent_p.D14D|ZNF415_ENST00000421033.1_Silent_p.D14D|ZNF415_ENST00000440291.1_5'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTTCTCCAACATCACATCCCT	0.453																																																	0													122.0	121.0	121.0					19																	53619598		2203	4300	6503	SO:0001583	missense	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.104T>C	19.37:g.53619598A>G	ENSP00000439435:p.Met35Thr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M35T	ENST00000500065.4	37	c.104	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946443	0.34377	.	.	ENSG00000170954	ENST00000243643;ENST00000500065	T;T	0.03152	4.03;4.03	2.95	2.95	0.34219	.	.	.	.	.	T	0.11537	0.0281	L	0.58302	1.8	0.80722	D	1	D;D	0.76494	0.999;0.96	D;P	0.78314	0.991;0.888	T	0.02015	-1.1229	9	0.49607	T	0.09	.	7.611	0.28131	1.0:0.0:0.0:0.0	.	35;35	F5H287;Q09FC8-5	.;.	T	35	ENSP00000243643:M35T;ENSP00000439435:M35T	ENSP00000243643:M35T	M	-	2	0	ZNF415	58311410	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	4.934000	0.63491	1.360000	0.45960	0.379000	0.24179	ATG	ZNF415	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000170954		0.453	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0.00	69	0	A	NM_018355		53619598	-1	tier1	-	no_errors	ENST00000243643	ensembl	human	known	74_37	missense	16.19	88	17	SNP	0.997	G
ZNF469	84627	genome.wustl.edu	37	16	88500055	88500055	+	Silent	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr16:88500055G>A	ENST00000437464.1	+	2	6093	c.6093G>A	c.(6091-6093)ccG>ccA	p.P2031P	ZNF469_ENST00000565624.1_Silent_p.P2059P	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2031					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CAAGCCCCCCGTCCCCTAATA	0.672																																																	0													12.0	17.0	15.0					16																	88500055		691	1587	2278	SO:0001819	synonymous_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.6093G>A	16.37:g.88500055G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P2031	ENST00000437464.1	37	c.6093	CCDS45544.1	16																																																																																			ZNF469	-	NULL	ENSG00000225614		0.672	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	18	0	G	NG_012236		88500055	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.000	A
ZNF77	58492	genome.wustl.edu	37	19	2934253	2934253	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:2934253G>A	ENST00000314531.4	-	4	964	c.872C>T	c.(871-873)aCt>aTt	p.T291I		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTCCAGTGTGTGTTCT	0.463																																																	0													164.0	148.0	154.0					19																	2934253		2203	4300	6503	SO:0001583	missense	0			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.872C>T	19.37:g.2934253G>A	ENSP00000319053:p.Thr291Ile		Q86XJ3|Q9NPP0	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.T291I	ENST00000314531.4	37	c.872	CCDS12099.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485568	0.63962	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.25749	1.78	2.67	-3.08	0.05347	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	M	0.73753	2.245	0.22675	N	0.998864	D	0.54397	0.966	P	0.46208	0.507	T	0.26189	-1.0110	9	0.59425	D	0.04	.	7.4319	0.27132	0.1093:0.4667:0.424:0.0	.	291	Q15935	ZNF77_HUMAN	I	85;291	ENSP00000319053:T291I	ENSP00000319053:T291I	T	-	2	0	ZNF77	2885253	0.000000	0.05858	0.002000	0.10522	0.969000	0.65631	-1.062000	0.03468	-0.463000	0.06973	0.491000	0.48974	ACT	ZNF77	-	pfscan_Znf_C2H2	ENSG00000175691		0.463	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF77	HGNC	protein_coding	OTTHUMT00000451924.1	-	0.00	75	0	G	NM_021217		2934253	-1	tier1	-	no_errors	ENST00000314531	ensembl	human	known	74_37	missense	39.02	50	32	SNP	0.891	A
ZNF701	55762	genome.wustl.edu	37	19	53086053	53086053	+	Silent	SNP	A	A	T	rs183892700	byFrequency	TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr19:53086053A>T	ENST00000540331.1	+	5	1164	c.939A>T	c.(937-939)gtA>gtT	p.V313V	ZNF701_ENST00000301093.2_Silent_p.V313V|ZNF701_ENST00000391785.3_Silent_p.V247V|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	313					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATGTGATGTATGCGGCAAGG	0.408																																					NSCLC(89;451 1475 9611 20673 52284)												0													94.0	90.0	91.0					19																	53086053		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.939A>T	19.37:g.53086053A>T			A2RRM8|B9EGF2|F5GZM6|Q66K42	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.V313	ENST00000540331.1	37	c.939	CCDS54311.1	19																																																																																			ZNF701	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167562		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	-	0.00	74	0	A	NM_018260		53086053	+1	tier1	-	no_errors	ENST00000301093	ensembl	human	known	74_37	silent	14.41	100	17	SNP	0.001	T
ZSCAN29	146050	genome.wustl.edu	37	15	43658902	43658902	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A4MQ-01A-11D-A28B-09	TCGA-LN-A4MQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	611d690b-36ec-4421-b1e4-ad1acd874607	14188af2-7b74-449c-83ca-2f0ffddd7fbb	g.chr15:43658902G>T	ENST00000396976.2	-	3	762	c.628C>A	c.(628-630)Cac>Aac	p.H210N	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H209N|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	210					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTCCTATGTGGCTGCCACTT	0.502																																																	0													91.0	87.0	88.0					15																	43658902		2201	4299	6500	SO:0001583	missense	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.628C>A	15.37:g.43658902G>T	ENSP00000380174:p.His210Asn		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H210N	ENST00000396976.2	37	c.628	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.401772	0.01165	.	.	ENSG00000140265	ENST00000396976	T	0.07216	3.21	4.17	-0.406	0.12389	.	0.747867	0.11879	N	0.520728	T	0.08268	0.0206	M	0.65498	2.005	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.0	T	0.38308	-0.9667	10	0.27785	T	0.31	4.501	3.1539	0.06498	0.3077:0.0:0.4491:0.2432	.	209;210;210	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	N	210	ENSP00000380174:H210N	ENSP00000380174:H210N	H	-	1	0	ZSCAN29	41446194	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	0.034000	0.13776	-0.182000	0.10602	-0.794000	0.03295	CAC	ZSCAN29	-	NULL	ENSG00000140265		0.502	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1		0.00	73	0	G	NM_152455		43658902	-1			no_errors	ENST00000396976	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.003	T
