#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA1	19	genome.wustl.edu	37	9	107555071	107555071	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:107555071G>A	ENST00000374736.3	-	42	6147	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1918	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCTCACCTTCGTCAACTCCTT	0.418																																																	0													138.0	121.0	127.0					9																	107555071		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5753C>T	9.37:g.107555071G>A	ENSP00000363868:p.Thr1918Met		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1918M	ENST00000374736.3	37	c.5753	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846071	0.91277	.	.	ENSG00000165029	ENST00000374736	D	0.94232	-3.38	5.9	5.9	0.94986	ABC transporter-like (1);	0.093697	0.64402	D	0.000001	D	0.95348	0.8490	M	0.91561	3.22	0.80722	D	1	P	0.51653	0.947	B	0.43225	0.412	D	0.95911	0.8923	10	0.66056	D	0.02	.	19.8926	0.96935	0.0:0.0:1.0:0.0	.	1918	O95477	ABCA1_HUMAN	M	1918	ENSP00000363868:T1918M	ENSP00000363868:T1918M	T	-	2	0	ABCA1	106594892	1.000000	0.71417	0.977000	0.42913	0.922000	0.55478	7.754000	0.85163	2.806000	0.96561	0.655000	0.94253	ACG	ABCA1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000165029		0.418	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0.00	64	0	G	NM_005502		107555071	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A
ABL1	25	genome.wustl.edu	37	9	133738375	133738375	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:133738375G>A	ENST00000318560.5	+	4	1156	c.775G>A	c.(775-777)Ggc>Agc	p.G259S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGTGTACGAGGGCGTGTGGAA	0.622			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													85.0	86.0	85.0					9																	133738375		2203	4300	6503	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.775G>A	9.37:g.133738375G>A	ENSP00000323315:p.Gly259Ser		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G278S	ENST00000318560.5	37	c.832	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.084767	0.97267	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.86432	-2.12;-2.12	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94102	0.7363	10	0.72032	D	0.01	.	19.6124	0.95613	0.0:0.0:1.0:0.0	.	259;296	P00519;Q59FK4	ABL1_HUMAN;.	S	74;278;259	ENSP00000361423:G278S;ENSP00000323315:G259S	ENSP00000323315:G259S	G	+	1	0	ABL1	132728196	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.812000	0.99227	2.880000	0.98712	0.650000	0.86243	GGC	ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000097007		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	-	0.00	51	0	G	NM_007313		133738375	+1	tier1	-	no_errors	ENST00000372348	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A
ACD	65057	genome.wustl.edu	37	16	67692970	67692970	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:67692970G>A	ENST00000393919.4	-	7	1028	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.S252F|PARD6A_ENST00000458121.2_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	255	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGAAGCTGGGACAGTGATAG	0.592																																																	0													57.0	58.0	57.0					16																	67692970		2198	4300	6498	SO:0001583	missense	0			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.764C>T	16.37:g.67692970G>A	ENSP00000377496:p.Ser255Phe		Q562H5|Q9H8F9	Missense_Mutation	SNP	NULL	p.S255F	ENST00000393919.4	37	c.764	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260661	0.80246	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.56103	0.48;0.48	5.15	5.15	0.70609	.	0.388726	0.24866	N	0.034977	T	0.60919	0.2306	L	0.29908	0.895	0.37360	D	0.911166	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.967	T	0.68322	-0.5439	10	0.87932	D	0	-15.103	14.111	0.65121	0.0:0.0:1.0:0.0	.	255;252	Q96AP0;Q96AP0-2	ACD_HUMAN;.	F	252;255	ENSP00000219251:S252F;ENSP00000377496:S255F	ENSP00000219251:S252F	S	-	2	0	ACD	66250471	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	4.746000	0.62133	2.386000	0.81285	0.462000	0.41574	TCC	ACD	-	NULL	ENSG00000102977		0.592	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	-	0.00	32	0	G	NM_022914		67692970	-1	tier1	-	no_errors	ENST00000393919	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	A
ACO1	48	genome.wustl.edu	37	9	32434696	32434696	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:32434696G>T	ENST00000309951.6	+	17	2234	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	ACO1_ENST00000541043.1_Missense_Mutation_p.R600I|ACO1_ENST00000379923.1_Missense_Mutation_p.R699I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	699					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTAACTAACAGAGGGTAAGTA	0.448																																																	0													84.0	80.0	82.0					9																	32434696		2203	4300	6503	SO:0001583	missense	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2096G>T	9.37:g.32434696G>T	ENSP00000309477:p.Arg699Ile		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.R699I	ENST00000309951.6	37	c.2096	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637659	0.87760	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.37915	1.17;1.17;2.18	5.93	5.93	0.95920	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.91717	3.235	0.80722	D	1	P;P	0.47962	0.903;0.598	P;B	0.44772	0.46;0.286	T	0.68062	-0.5508	10	0.87932	D	0	-4.5472	19.1254	0.93380	0.0:0.0:1.0:0.0	.	735;699	Q59FI0;P21399	.;ACOC_HUMAN	I	735;699;699;600	ENSP00000309477:R699I;ENSP00000369255:R699I;ENSP00000438733:R600I	ENSP00000309477:R699I	R	+	2	0	ACO1	32424696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.171000	0.58236	2.826000	0.97356	0.655000	0.94253	AGA	ACO1	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.448	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	-	0.00	47	0	G	NM_002197		32434696	+1	tier1	-	no_errors	ENST00000309951	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T
ACOX1	51	genome.wustl.edu	37	17	73944459	73944459	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:73944459G>T	ENST00000301608.4	-	13	1868	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ACOX1_ENST00000537812.1_Missense_Mutation_p.A565D|ACOX1_ENST00000293217.5_Missense_Mutation_p.A603D	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	603					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CAAAGCAACAGCATCTGAGCG	0.438																																																	0													185.0	156.0	166.0					17																	73944459		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1808C>A	17.37:g.73944459G>T	ENSP00000301608:p.Ala603Asp		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.A603D	ENST00000301608.4	37	c.1808	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.105822	0.94292	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.59364	0.27;0.27;0.27	5.35	5.35	0.76521	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.998;0.996	D;D;D;P	0.70016	0.967;0.948;0.93;0.885	D	0.88611	0.3156	10	0.87932	D	0	-22.5041	19.9544	0.97215	0.0:0.0:1.0:0.0	.	535;565;603;603	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	D	603;603;565;603;535	ENSP00000301608:A603D;ENSP00000293217:A603D;ENSP00000441257:A565D	ENSP00000293217:A603D	A	-	2	0	ACOX1	71456054	1.000000	0.71417	0.791000	0.31998	0.883000	0.51084	7.122000	0.77169	2.885000	0.99019	0.655000	0.94253	GCT	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.438	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0.00	63	0	G			73944459	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
ACTG2	72	genome.wustl.edu	37	2	74128470	74128470	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:74128470G>T	ENST00000409624.1	+	3	675	c.32G>T	c.(31-33)tGt>tTt	p.C11F	ACTG2_ENST00000345517.3_Missense_Mutation_p.C11F|ACTG2_ENST00000409731.3_Missense_Mutation_p.C11F|ACTG2_ENST00000409918.1_Missense_Mutation_p.C11F			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	11					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GCGCTCGTGTGTGACAATGGC	0.622																																																	0													71.0	62.0	65.0					2																	74128470		2203	4300	6503	SO:0001583	missense	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.32G>T	2.37:g.74128470G>T	ENSP00000386857:p.Cys11Phe		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.C11F	ENST00000409624.1	37	c.32	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287549	0.40494	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.96940	-4.18;-4.18;-3.4;-3.4;-4.18	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	L	0.48642	1.525	0.54753	D	0.999983	B;D;B	0.71674	0.0;0.998;0.002	B;D;B	0.87578	0.003;0.998;0.339	D	0.97625	1.0138	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	11;11;11	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	F	11	ENSP00000386929:C11F;ENSP00000295137:C11F;ENSP00000387182:C11F;ENSP00000410020:C11F;ENSP00000386857:C11F	ENSP00000295137:C11F	C	+	2	0	ACTG2	73981978	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	6.361000	0.73070	2.199000	0.70637	0.305000	0.20034	TGT	ACTG2	-	pfam_Actin-related,smart_Actin-related	ENSG00000163017		0.622	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	-	0.00	50	0	G	NM_001615		74128470	+1	tier1	-	no_errors	ENST00000345517	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
ACTL9	284382	genome.wustl.edu	37	19	8808271	8808271	+	Missense_Mutation	SNP	C	C	T	rs142929347	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:8808271C>T	ENST00000324436.3	-	1	901	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	261						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V261L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGGAGGCCACGTAGCAATAG	0.647																																																	1	Substitution - Missense(1)	lung(1)						C	MET/VAL	0,4406		0,0,2203	43.0	40.0	41.0		781	2.5	1.0	19	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ACTL9	NM_178525.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	261/417	8808271	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.781G>A	19.37:g.8808271C>T	ENSP00000316674:p.Val261Met		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V261M	ENST00000324436.3	37	c.781	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	c	13.83	2.355667	0.41700	0.0	3.49E-4	ENSG00000181786	ENST00000324436	D	0.97352	-4.35	4.63	2.45	0.29901	.	0.202150	0.24798	U	0.035516	D	0.95912	0.8669	M	0.80028	2.48	0.33746	D	0.620033	D	0.57571	0.98	P	0.45639	0.488	D	0.95327	0.8426	10	0.87932	D	0	.	5.6497	0.17610	0.1659:0.6586:0.0:0.1755	.	261	Q8TC94	ACTL9_HUMAN	M	261	ENSP00000316674:V261M	ENSP00000316674:V261M	V	-	1	0	ACTL9	8669271	0.996000	0.38824	0.992000	0.48379	0.120000	0.20174	2.245000	0.43133	0.646000	0.30693	0.306000	0.20318	GTG	ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.647	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1		0.00	84	0	C	NM_178525		8808271	-1			no_errors	ENST00000324436	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
ADAM17	6868	genome.wustl.edu	37	2	9676030	9676030	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:9676030A>G	ENST00000310823.3	-	4	565	c.383T>C	c.(382-384)cTa>cCa	p.L128P	ADAM17_ENST00000497134.1_Missense_Mutation_p.L128P	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	128					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TATGTGGGCTAGAACCCTAGA	0.289																																																	0													54.0	54.0	54.0					2																	9676030		2203	4298	6501	SO:0001583	missense	0			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.383T>C	2.37:g.9676030A>G	ENSP00000309968:p.Leu128Pro		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.L128P	ENST00000310823.3	37	c.383	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878057	0.51801	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06218	3.33;3.33	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.141035	0.47852	D	0.000201	T	0.20981	0.0505	L	0.57536	1.79	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;0.984;1.0;0.984	D;P;D;P	0.77557	0.99;0.861;0.99;0.861	T	0.00516	-1.1694	10	0.36615	T	0.2	.	15.5928	0.76550	1.0:0.0:0.0:0.0	.	128;128;128;128	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	P	128	ENSP00000309968:L128P;ENSP00000418728:L128P	ENSP00000309968:L128P	L	-	2	0	ADAM17	9593481	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	4.994000	0.63901	2.134000	0.65973	0.455000	0.32223	CTA	ADAM17	-	pfam_Peptidase_M12B_N	ENSG00000151694		0.289	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	-	0.00	42	0	A			9676030	-1	tier1	-	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.990	G
ADAMTS1	9510	genome.wustl.edu	37	21	28212680	28212680	+	Missense_Mutation	SNP	G	G	A	rs370561058		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:28212680G>A	ENST00000284984.3	-	5	2034	c.1580C>T	c.(1579-1581)cCg>cTg	p.P527L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	527	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATCCGCCCACGGGAAGTGTTT	0.527																																																	0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	84.0	73.0	77.0		1580	5.1	1.0	21		77	0,8600		0,0,4300	no	missense	ADAMTS1	NM_006988.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	527/968	28212680	1,13005	2203	4300	6503	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1580C>T	21.37:g.28212680G>A	ENSP00000284984:p.Pro527Leu		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.P527L	ENST00000284984.3	37	c.1580	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.219142	0.95104	2.27E-4	0.0	ENSG00000154734	ENST00000284984	T	0.69040	-0.37	5.12	5.12	0.69794	ADAM, cysteine-rich (1);	.	.	.	.	D	0.86112	0.5855	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88712	0.3223	9	0.87932	D	0	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	527	Q9UHI8	ATS1_HUMAN	L	527	ENSP00000284984:P527L	ENSP00000284984:P527L	P	-	2	0	ADAMTS1	27134551	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	9.208000	0.95075	2.820000	0.97059	0.650000	0.86243	CCG	ADAMTS1	-	smart_ADAM_Cys-rich	ENSG00000154734		0.527	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0.00	71	0	G			28212680	-1	tier1	-	no_errors	ENST00000284984	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A
ADAMTS9	56999	genome.wustl.edu	37	3	64532485	64532485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:64532485G>T	ENST00000498707.1	-	32	5355	c.5013C>A	c.(5011-5013)taC>taA	p.Y1671*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Y1643*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1671	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGTCCCTCAGGTAACAGGGGT	0.552																																																	0													112.0	111.0	111.0					3																	64532485		2203	4300	6503	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5013C>A	3.37:g.64532485G>T	ENSP00000418735:p.Tyr1671*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y1671*	ENST00000498707.1	37	c.5013	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.893559|6.893559	0.97916|0.97916	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.36|5.36	4.48|4.48	0.54585|0.54585	.|.	.|0.417151	.|0.24301	.|N	.|0.039737	T|.	0.33206|.	0.0855|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15150|.	-1.0447|.	4|.	.|0.02654	.|T	.|1	.|.	11.7904|11.7904	0.52065|0.52065	0.1395:0.0:0.8605:0.0|0.1395:0.0:0.8605:0.0	.|.	.|.	.|.	.|.	N|X	727|1643;1671	.|.	.|ENSP00000295903:Y1643X	T|Y	-|-	2|3	0|2	ADAMTS9|ADAMTS9	64507525|64507525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	2.451000|2.451000	0.44952|0.44952	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	ACC|TAC	ADAMTS9	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.552	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	56	0	G			64532485	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T
ADCK5	203054	genome.wustl.edu	37	8	145603116	145603116	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:145603116G>T	ENST00000308860.6	+	2	97	c.53G>T	c.(52-54)aGg>aTg	p.R18M	ADCK5_ENST00000532190.1_Missense_Mutation_p.R18M|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	18						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGCACAGAAGGCAGAAGCCC	0.602																																																	0													65.0	55.0	59.0					8																	145603116		2202	4300	6502	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.53G>T	8.37:g.145603116G>T	ENSP00000310547:p.Arg18Met		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.R18M	ENST00000308860.6	37	c.53	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594543	0.28445	.	.	ENSG00000173137	ENST00000308860;ENST00000532190	T;T	0.75938	-0.98;0.75	4.55	0.693	0.18056	.	1.232310	0.06155	N	0.674901	T	0.66790	0.2825	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.38500	0.275	T	0.54977	-0.8212	10	0.48119	T	0.1	-9.2594	3.6831	0.08317	0.3144:0.1882:0.4974:0.0	.	18	Q3MIX3	ADCK5_HUMAN	M	18	ENSP00000310547:R18M;ENSP00000435155:R18M	ENSP00000310547:R18M	R	+	2	0	ADCK5	145573924	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	0.419000	0.21247	0.054000	0.16065	0.563000	0.77884	AGG	ADCK5	-	NULL	ENSG00000173137		0.602	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0.00	41	0	G	NM_174922		145603116	+1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.000	T
ADGB	79747	genome.wustl.edu	37	6	146956525	146956525	+	Missense_Mutation	SNP	G	G	T	rs377315874		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:146956525G>T	ENST00000397944.3	+	2	165	c.89G>T	c.(88-90)gGc>gTc	p.G30V	ADGB_ENST00000367493.3_5'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	30					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						TATCCTTTTGGCAGTAATGTA	0.383																																																	0													217.0	191.0	199.0					6																	146956525		692	1591	2283	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.89G>T	6.37:g.146956525G>T	ENSP00000381036:p.Gly30Val		Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.G30V	ENST00000397944.3	37	c.89		6	.	.	.	.	.	.	.	.	.	.	G	8.938	0.965019	0.18583	.	.	ENSG00000118492	ENST00000397944	T	0.36157	1.27	3.86	2.96	0.34315	.	0.729507	0.12326	N	0.478793	T	0.15739	0.0379	L	0.54323	1.7	0.21579	N	0.999633	B	0.18741	0.03	B	0.12156	0.007	T	0.21381	-1.0247	10	0.33141	T	0.24	-2.0126	10.8306	0.46659	0.0:0.1929:0.8071:0.0	.	30	Q8N7X0	CAN7L_HUMAN	V	30	ENSP00000381036:G30V	ENSP00000381036:G30V	G	+	2	0	C6orf103	146998218	0.130000	0.22417	0.009000	0.14445	0.003000	0.03518	3.201000	0.51059	0.943000	0.37553	0.650000	0.86243	GGC	ADGB	-	NULL	ENSG00000118492		0.383	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	-	0.00	78	0	G	NM_024694		146956525	+1	tier1	-	no_errors	ENST00000397944	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.080	T
ADGB	79747	genome.wustl.edu	37	6	147047221	147047221	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:147047221G>T	ENST00000397944.3	+	19	2316	c.2240G>T	c.(2239-2241)aGa>aTa	p.R747I	ADGB_ENST00000367493.3_Missense_Mutation_p.R166I	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	747				RHMLLFNA -> YEVASFFP (in Ref. 3; BAC05106). {ECO:0000305}.	oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						CTCTTTAGGAGACACATGCTA	0.478																																																	0													147.0	114.0	124.0					6																	147047221		692	1591	2283	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.2240G>T	6.37:g.147047221G>T	ENSP00000381036:p.Arg747Ile		Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.R747I	ENST00000397944.3	37	c.2240		6	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621653	0.66787	.	.	ENSG00000118492	ENST00000397944;ENST00000367493	T	0.39592	1.07	5.87	5.87	0.94306	.	.	.	.	.	T	0.57814	0.2079	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.60234	-0.7303	9	0.87932	D	0	.	17.1113	0.86675	0.0:0.0:1.0:0.0	.	747	Q8N7X0	CAN7L_HUMAN	I	747;166	ENSP00000381036:R747I	ENSP00000356463:R166I	R	+	2	0	C6orf103	147088914	1.000000	0.71417	0.996000	0.52242	0.181000	0.23173	5.340000	0.65958	2.768000	0.95171	0.585000	0.79938	AGA	ADGB	-	NULL	ENSG00000118492		0.478	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	-	0.00	54	0	G	NM_024694		147047221	+1	tier1	-	no_errors	ENST00000397944	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.994	T
ADSSL1	122622	genome.wustl.edu	37	14	105212613	105212616	+	Frame_Shift_Del	DEL	AACG	AACG	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	AACG	AACG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:105212613_105212616delAACG	ENST00000555674.1	+	1	221_224	c.30_33delAACG	c.(28-33)gaaacgfs	p.ET10fs	ADSSL1_ENST00000556623.1_Frame_Shift_Del_p.ET10fs|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Frame_Shift_Del_p.ET404fs|ADSSL1_ENST00000332972.5_Frame_Shift_Del_p.ET447fs					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		TTGAGTATGAAACGCTGCCTGGGT	0.593																																																	0																																										SO:0001589	frameshift_variant	0			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.30_33delAACG	14.37:g.105212613_105212616delAACG	ENSP00000450433:p.Glu10fs			Frame_Shift_Del	DEL	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.E447fs	ENST00000555674.1	37	c.1341_1344		14																																																																																			ADSSL1	-	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	ENSG00000185100		0.593	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410540.1		0.00	21	0	AACG			105212616	+1	tier1		no_errors	ENST00000332972	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	0.800:0.988:0.991:0.474	-
AKAP10	11216	genome.wustl.edu	37	17	19866239	19866239	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:19866239G>T	ENST00000225737.6	-	3	390	c.233C>A	c.(232-234)gCc>gAc	p.A78D	AKAP10_ENST00000395536.3_Missense_Mutation_p.A78D|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	78					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GTCCATGTTGGCAGAAATGGC	0.463																																																	0													148.0	142.0	144.0					17																	19866239		2203	4300	6503	SO:0001583	missense	0			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.233C>A	17.37:g.19866239G>T	ENSP00000225737:p.Ala78Asp		B2R650|Q96AJ7	Nonsense_Mutation	SNP	NULL	p.C59*	ENST00000225737.6	37	c.177	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869524	0.91587	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.52983	0.64	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	L	0.56769	1.78	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.68047	-0.5512	10	0.87932	D	0	-8.1548	19.2047	0.93724	0.0:0.0:1.0:0.0	.	78;78;78	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	D	78	ENSP00000225737:A78D	ENSP00000225737:A78D	A	-	2	0	AKAP10	19806831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.181000	0.94874	2.781000	0.95711	0.591000	0.81541	GCC	AKAP10	-	NULL	ENSG00000108599		0.463	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2		0.00	29	0	G	NM_007202		19866239	-1			no_errors	ENST00000572341	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T
AKAP8L	26993	genome.wustl.edu	37	19	15514370	15514370	+	Missense_Mutation	SNP	G	G	T	rs372294703		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:15514370G>T	ENST00000397410.5	-	4	408	c.278C>A	c.(277-279)tCc>tAc	p.S93Y	AKAP8L_ENST00000595465.2_Intron|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	93						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTAATTCTGGATAAAACGGA	0.522																																																	0													125.0	127.0	127.0					19																	15514370		2047	4204	6251	SO:0001583	missense	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.278C>A	19.37:g.15514370G>T	ENSP00000380557:p.Ser93Tyr		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.S93Y	ENST00000397410.5	37	c.278	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831932	0.71258	.	.	ENSG00000011243	ENST00000397410	T	0.51071	0.72	5.33	5.33	0.75918	.	0.069990	0.56097	D	0.000029	T	0.51109	0.1655	N	0.24115	0.695	0.33461	D	0.584945	D;D	0.71674	0.998;0.995	D;P	0.63381	0.914;0.854	T	0.64364	-0.6425	10	0.87932	D	0	-15.1454	12.3109	0.54927	0.0:0.1705:0.8295:0.0	.	93;93	B3KMD4;Q9ULX6	.;AKP8L_HUMAN	Y	93	ENSP00000380557:S93Y	ENSP00000380557:S93Y	S	-	2	0	AKAP8L	15375370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.805000	0.55575	2.492000	0.84095	0.561000	0.74099	TCC	AKAP8L	-	NULL	ENSG00000011243		0.522	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	-	0.00	68	0	G	NM_014371		15514370	-1	tier1	-	no_errors	ENST00000397410	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
ALDH1L2	160428	genome.wustl.edu	37	12	105425678	105425678	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:105425678G>T	ENST00000258494.9	-	20	2419	c.2279C>A	c.(2278-2280)cCa>cAa	p.P760Q	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	760	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCTGTCAAGTGGATCACCAAT	0.398																																																	0													197.0	198.0	198.0					12																	105425678		2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2279C>A	12.37:g.105425678G>T	ENSP00000258494:p.Pro760Gln		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.P760Q	ENST00000258494.9	37	c.2279	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824371	0.90955	.	.	ENSG00000136010	ENST00000258494	T	0.80738	-1.41	5.45	5.45	0.79879	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93410	0.6768	10	0.87932	D	0	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	760	Q3SY69	AL1L2_HUMAN	Q	760	ENSP00000258494:P760Q	ENSP00000258494:P760Q	P	-	2	0	ALDH1L2	103949808	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	9.776000	0.99001	2.716000	0.92895	0.655000	0.94253	CCA	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.398	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1		0.00	70	0	G	XM_090294		105425678	-1			no_errors	ENST00000258494	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
ALOX12B	242	genome.wustl.edu	37	17	7990724	7990724	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:7990724C>T	ENST00000319144.4	-	1	297	c.37G>A	c.(37-39)Gac>Aac	p.D13N	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	13	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GACAAGAGGTCGGTGCCTGTG	0.592										Multiple Myeloma(8;0.094)																																							0													201.0	154.0	170.0					17																	7990724		2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.37G>A	17.37:g.7990724C>T	ENSP00000315167:p.Asp13Asn			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.D13N	ENST00000319144.4	37	c.37	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494021	0.26774	.	.	ENSG00000179477	ENST00000319144	T	0.63417	-0.04	4.78	4.78	0.61160	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.288783	0.34484	N	0.003939	T	0.51041	0.1651	L	0.49126	1.545	0.09310	N	1	B	0.22080	0.064	B	0.23419	0.046	T	0.31696	-0.9934	10	0.27785	T	0.31	-27.5419	6.0766	0.19919	0.1881:0.7182:0.0:0.0937	.	13	O75342	LX12B_HUMAN	N	13	ENSP00000315167:D13N	ENSP00000315167:D13N	D	-	1	0	ALOX12B	7931449	0.006000	0.16342	0.279000	0.24732	0.904000	0.53231	1.647000	0.37260	2.486000	0.83907	0.555000	0.69702	GAC	ALOX12B	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml	ENSG00000179477		0.592	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3		0.00	90	0	C			7990724	-1			no_errors	ENST00000319144	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.007	T
ALS2CR11	151254	genome.wustl.edu	37	2	202357193	202357193	+	Intron	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:202357193C>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.E1291K|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATGTTTATTTCAAACCTTCTA	0.284																																																	0													30.0	25.0	26.0					2																	202357193		692	1569	2261	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+3424G>A	2.37:g.202357193C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_dom	p.E1291K	ENST00000286195.3	37	c.3871	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144724	0.21288	.	.	ENSG00000155754	ENST00000439140	T	0.49432	0.78	5.03	3.06	0.35304	.	.	.	.	.	T	0.32041	0.0816	N	0.19112	0.55	0.09310	N	0.999991	B	0.30851	0.297	B	0.34779	0.189	T	0.19778	-1.0295	9	0.31617	T	0.26	.	7.1887	0.25814	0.0:0.7293:0.1731:0.0977	.	1291	E9PGG4	.	K	1291	ENSP00000409937:E1291K	ENSP00000409937:E1291K	E	-	1	0	ALS2CR11	202065438	0.008000	0.16893	0.855000	0.33649	0.914000	0.54420	0.365000	0.20348	1.232000	0.43678	0.455000	0.32223	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.284	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0.00	34	0	C	NM_152525		202357193	-1	tier1	-	no_errors	ENST00000439140	ensembl	human	novel	74_37	missense	31.71	28	13	SNP	0.012	T
ALPP	250	genome.wustl.edu	37	2	233245019	233245019	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233245019G>T	ENST00000392027.2	+	6	1050	c.781G>T	c.(781-783)Gcg>Tcg	p.A261S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	261				AK -> GE (in Ref. 6; AAA51706). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGAATGGCTGGCGAAGCGCCA	0.652																																																	0													80.0	82.0	81.0					2																	233245019		2203	4300	6503	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.781G>T	2.37:g.233245019G>T	ENSP00000375881:p.Ala261Ser		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A261S	ENST00000392027.2	37	c.781	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.770538	0.00645	.	.	ENSG00000163283	ENST00000392027	D	0.95853	-3.83	2.31	1.39	0.22231	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.490260	0.03629	N	0.237605	D	0.88851	0.6549	N	0.20304	0.555	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.79293	-0.1863	10	0.06236	T	0.91	.	4.8586	0.13571	0.1912:0.0:0.8088:0.0	.	261	P05187	PPB1_HUMAN	S	261	ENSP00000375881:A261S	ENSP00000375881:A261S	A	+	1	0	ALPP	232953263	0.610000	0.26983	0.809000	0.32408	0.289000	0.27227	0.523000	0.22925	0.300000	0.22699	0.298000	0.19748	GCG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0.00	95	0	G	NM_001632		233245019	+1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.311	T
ANK2	287	genome.wustl.edu	37	4	114161692	114161692	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:114161692G>T	ENST00000357077.4	+	8	798	c.745G>T	c.(745-747)Gca>Tca	p.A249S	ANK2_ENST00000394537.3_Missense_Mutation_p.A249S|ANK2_ENST00000506722.1_Missense_Mutation_p.A228S|ANK2_ENST00000264366.6_Missense_Mutation_p.A249S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	249					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCAACGTGGCAACTCTTCT	0.403																																																	0													145.0	136.0	139.0					4																	114161692		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.745G>T	4.37:g.114161692G>T	ENSP00000349588:p.Ala249Ser		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A249S	ENST00000357077.4	37	c.745	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875717	0.91664	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.66099	-0.19;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.47455	D	0.000231	T	0.77565	0.4149	L	0.57130	1.785	0.80722	D	1	D;P;D;B;D	0.67145	0.972;0.622;0.966;0.421;0.996	P;P;D;B;D	0.80764	0.895;0.552;0.91;0.163;0.994	T	0.78368	-0.2231	10	0.72032	D	0.01	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	249;249;249;228;228	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	228;228;228;264;249;249;249;228	ENSP00000423799:A228S;ENSP00000421011:A228S;ENSP00000421067:A228S;ENSP00000424722:A264S;ENSP00000378044:A249S;ENSP00000349588:A249S;ENSP00000264366:A249S	ENSP00000264366:A249S	A	+	1	0	ANK2	114381141	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	4.813000	0.62620	2.740000	0.93945	0.650000	0.86243	GCA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	55	0	G	NM_001148		114161692	+1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
ANKEF1	63926	genome.wustl.edu	37	20	10036201	10036201	+	Missense_Mutation	SNP	C	C	T	rs139719301		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:10036201C>T	ENST00000378380.3	+	10	2553	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R742W|SNAP25-AS1_ENST00000421143.2_RNA|AL109754.1_ENST00000408554.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	742			R -> Q (in dbSNP:rs6087119).				calcium ion binding (GO:0005509)										GAGGGAACTACGGCGAGAGAG	0.463																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	93.0	86.0	89.0		2224,2224	1.5	0.0	20	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	742/777,742/777	10036201	1,13005	2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2224C>T	20.37:g.10036201C>T	ENSP00000367631:p.Arg742Trp		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.R742W	ENST00000378380.3	37	c.2224	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653143	0.47362	0.0	1.16E-4	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70749	-0.51;-0.51	5.64	1.51	0.23008	.	0.265080	0.37053	N	0.002276	T	0.69287	0.3094	L	0.58101	1.795	0.38695	D	0.952857	D	0.65815	0.995	P	0.49387	0.609	T	0.69669	-0.5083	10	0.56958	D	0.05	-9.5472	9.5276	0.39173	0.367:0.5696:0.0:0.0634	.	742	Q9NU02	ANKR5_HUMAN	W	742	ENSP00000367644:R742W;ENSP00000367631:R742W	ENSP00000367631:R742W	R	+	1	2	ANKRD5	9984201	0.020000	0.18652	0.032000	0.17829	0.793000	0.44817	0.123000	0.15708	0.056000	0.16144	-0.844000	0.03045	CGG	ANKEF1	-	NULL	ENSG00000132623		0.463	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2	-	0.00	55	0	C	NM_022096		10036201	+1	tier1	rs139719301	no_errors	ENST00000378380	ensembl	human	known	74_37	missense	11.43	62	8	SNP	0.887	T
ANKHD1	54882	genome.wustl.edu	37	5	139918669	139918669	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:139918669G>T	ENST00000360839.2	+	33	7723		c.e33+1		ANKHD1_ENST00000297183.6_Splice_Site|ANKHD1_ENST00000544120.1_Splice_Site|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1							cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCAGCAGGTAAAATGGGC	0.363																																																	0													66.0	65.0	65.0					5																	139918669		2203	4300	6503	SO:0001630	splice_region_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7569+1G>T	5.37:g.139918669G>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Splice_Site	SNP	-	e33+1	ENST00000360839.2	37	c.7569+1	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.73|18.73	3.687282|3.687282	0.68157|0.68157	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000431508;ENST00000433049;ENST00000435794;ENST00000432301;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000421706	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76976	.|0.4063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	.|.	.|.	.|.	.|.	20.2191|20.2191	0.98319|0.98319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|181	.|.	.|.	.|R	+|+	.|3	.|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139898853|139898853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.634000|6.634000	0.74290|0.74290	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	.|AGG	ANKHD1	-	-	ENSG00000131503		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0.00	71	0	G	NM_017747	Intron	139918669	+1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	splice_site	7.27	51	4	SNP	1.000	T
ANKLE1	126549	genome.wustl.edu	37	19	17397483	17397483	+	3'UTR	SNP	G	G	T	rs367668712|rs60338123		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:17397483G>T	ENST00000394458.3	+	0	2246				ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.V585L	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtgtgtgtg	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*122G>T	19.37:g.17397483G>T			A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V585L	ENST00000394458.3	37	c.1753	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	g	7.620	0.676724	0.14841	.	.	ENSG00000160117	ENST00000438921	.	.	.	2.24	-0.708	0.11241	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	B	0.31548	0.328	B	0.19148	0.024	T	0.07770	-1.0755	6	.	.	.	.	2.9012	0.05706	0.2004:0.2982:0.5014:0.0	.	585	E7ETZ9	.	L	585	.	.	V	+	1	0	ANKLE1	17258483	0.206000	0.23470	0.415000	0.26534	0.134000	0.20937	0.998000	0.29744	0.226000	0.20979	0.460000	0.39030	GTG	ANKLE1	-	NULL	ENSG00000160117		0.537	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	-	0.00	11	0	G	NM_152363		17397483	+1	tier1	-	no_errors	ENST00000598347	ensembl	human	putative	74_37	missense	30.77	9	4	SNP	0.927	T
ANKLE2	23141	genome.wustl.edu	37	12	133306306	133306306	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:133306306G>T	ENST00000357997.5	-	11	2531	c.2442C>A	c.(2440-2442)ctC>ctA	p.L814L	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Silent_p.L752L|ANKLE2_ENST00000542282.1_Silent_p.L169L|ANKLE2_ENST00000542657.1_Silent_p.L169L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	814					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGACCTCGAGCTGATCCT	0.592																																																	0													81.0	87.0	85.0					12																	133306306		2068	4195	6263	SO:0001819	synonymous_variant	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2442C>A	12.37:g.133306306G>T			A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.L814	ENST00000357997.5	37	c.2442	CCDS41869.1	12																																																																																			ANKLE2	-	NULL	ENSG00000176915		0.592	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1		0.00	64	0	G			133306306	-1			no_errors	ENST00000357997	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T
AP5M1	55745	genome.wustl.edu	37	14	57749690	57749690	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:57749690G>T	ENST00000261558.3	+	5	1533	c.1127G>T	c.(1126-1128)gGc>gTc	p.G376V	AP5M1_ENST00000431972.2_Missense_Mutation_p.G390V|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	376	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ACTAGTTTTGGCCAGCTTGAA	0.274																																																	0													116.0	131.0	126.0					14																	57749690		2203	4299	6502	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1127G>T	14.37:g.57749690G>T	ENSP00000261558:p.Gly376Val		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.G376V	ENST00000261558.3	37	c.1127	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734142	0.89482	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.57907	0.37;0.37	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77370	-0.2613	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	376	Q9H0R1	MUDEN_HUMAN	V	376;390	ENSP00000261558:G376V;ENSP00000390531:G390V	ENSP00000261558:G376V	G	+	2	0	MUDENG	56819443	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.653000	0.67967	2.871000	0.98454	0.655000	0.94253	GGC	AP5M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000053770		0.274	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1		0.00	20	0	G	NM_018229		57749690	+1			no_errors	ENST00000261558	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
APPL1	26060	genome.wustl.edu	37	3	57281447	57281447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:57281447G>T	ENST00000288266.3	+	9	793	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	216	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATGGGTTCTGAAAATCTTAA	0.299																																																	0													51.0	53.0	53.0					3																	57281447		2200	4291	6491	SO:0001587	stop_gained	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.646G>T	3.37:g.57281447G>T	ENSP00000288266:p.Glu216*		Q9P2B9	Nonsense_Mutation	SNP	pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.E216*	ENST00000288266.3	37	c.646	CCDS2882.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.536065	0.97646	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.57	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.6786	14.8644	0.70404	0.0693:0.0:0.9307:0.0	.	.	.	.	X	216	.	ENSP00000288266:E216X	E	+	1	0	APPL1	57256487	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.400000	0.97290	1.496000	0.48567	0.591000	0.81541	GAA	APPL1	-	NULL	ENSG00000157500		0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2	-	0.00	52	0	G	NM_012096		57281447	+1	tier1	-	no_errors	ENST00000288266	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T
ARHGAP10	79658	genome.wustl.edu	37	4	148796191	148796191	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:148796191G>T	ENST00000336498.3	+	8	961	c.722G>T	c.(721-723)gGa>gTa	p.G241V		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CGATTTGAAGGAACAAGGTCA	0.383																																																	0													98.0	93.0	95.0					4																	148796191		2203	4300	6503	SO:0001583	missense	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.722G>T	4.37:g.148796191G>T	ENSP00000336923:p.Gly241Val		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G241V	ENST00000336498.3	37	c.722	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300895	0.60195	.	.	ENSG00000071205	ENST00000336498	T	0.03831	3.79	4.85	4.0	0.46444	.	0.052397	0.85682	D	0.000000	T	0.16085	0.0387	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.00341	-1.1804	10	0.72032	D	0.01	.	12.8145	0.57657	0.08:0.0:0.92:0.0	.	241	A1A4S6	RHG10_HUMAN	V	241	ENSP00000336923:G241V	ENSP00000336923:G241V	G	+	2	0	ARHGAP10	149015641	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.974000	0.70465	1.154000	0.42482	0.650000	0.86243	GGA	ARHGAP10	-	NULL	ENSG00000071205		0.383	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1		0.00	26	0	G	NM_024605		148796191	+1			no_errors	ENST00000336498	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
ARID1B	57492	genome.wustl.edu	37	6	157528490	157528490	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:157528490C>A	ENST00000350026.5	+	19	6177	c.6176C>A	c.(6175-6177)cCc>cAc	p.P2059H	ARID1B_ENST00000346085.5_Missense_Mutation_p.P2072H|ARID1B_ENST00000275248.4_Missense_Mutation_p.P2054H|ARID1B_ENST00000367148.1_Missense_Mutation_p.P2112H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2059					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGTGGGACCCAACTCGGTC	0.527																																																	0													181.0	186.0	185.0					6																	157528490		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6176C>A	6.37:g.157528490C>A	ENSP00000055163:p.Pro2059His		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P2112H	ENST00000350026.5	37	c.6335	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880516	0.33255	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.26	5.26	0.73747	.	0.106927	0.64402	D	0.000004	T	0.61148	0.2324	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.988	T	0.65183	-0.6230	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	2059;2072;2054	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	2072;2059;2112;2054;1581	ENSP00000344546:P2072H;ENSP00000055163:P2059H;ENSP00000356116:P2112H;ENSP00000275248:P2054H;ENSP00000412835:P1581H	ENSP00000275248:P2054H	P	+	2	0	ARID1B	157570182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	2.607000	0.88179	0.655000	0.94253	CCC	ARID1B	-	pfam_DUF3518	ENSG00000049618		0.527	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0.00	48	0	C	NM_020732		157528490	+1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A
ARID4B	51742	genome.wustl.edu	37	1	235331925	235331925	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:235331925G>T	ENST00000264183.3	-	24	4351	c.3854C>A	c.(3853-3855)tCc>tAc	p.S1285Y	ARID4B_ENST00000349213.3_Missense_Mutation_p.S1199Y|ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000366603.2_Missense_Mutation_p.S1285Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1285	Ser-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGCTGTTATGGAACTGGATGA	0.428																																																	0													103.0	85.0	91.0					1																	235331925		2203	4300	6503	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3854C>A	1.37:g.235331925G>T	ENSP00000264183:p.Ser1285Tyr		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1285Y	ENST00000264183.3	37	c.3854	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191708	0.58017	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.34667	1.35;1.6;1.6	4.96	4.96	0.65561	.	0.206550	0.43416	D	0.000575	T	0.52092	0.1713	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.992;0.994	T	0.54529	-0.8280	10	0.72032	D	0.01	-4.9706	18.4402	0.90664	0.0:0.0:1.0:0.0	.	1199;1285	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	Y	1199;1285;1285	ENSP00000264184:S1199Y;ENSP00000355562:S1285Y;ENSP00000264183:S1285Y	ENSP00000264183:S1285Y	S	-	2	0	ARID4B	233398548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.378000	0.90144	2.579000	0.87056	0.557000	0.71058	TCC	ARID4B	-	NULL	ENSG00000054267		0.428	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	-	0.00	33	0	G	NM_016374		235331925	-1	tier1	-	no_errors	ENST00000264183	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ARMCX4	100131755	genome.wustl.edu	37	X	100749023	100749023	+	Missense_Mutation	SNP	A	A	G	rs200291370|rs202131986		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:100749023A>G	ENST00000423738.3	+	2	5649	c.5447A>G	c.(5446-5448)gAg>gGg	p.E1816G		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	158						integral component of membrane (GO:0016021)				lung(1)	1						gctggggctgaggctggggct	0.667																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.5447A>G	X.37:g.100749023A>G	ENSP00000404304:p.Glu1816Gly		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.E1816G	ENST00000423738.3	37	c.5447	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	0.099	-1.154375	0.01700	.	.	ENSG00000196440	ENST00000423738	.	.	.	2.67	-5.34	0.02705	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18618	-1.0331	4	.	.	.	.	8.7616	0.34678	0.2925:0.0:0.5945:0.113	.	.	.	.	G	1920	.	.	E	+	2	0	ARMCX4	100635679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.555000	0.02170	-3.824000	0.00102	-3.043000	0.00070	GAG	ARMCX4	-	NULL	ENSG00000196440		0.667	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	28	0	A	NM_001256155		100749023	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	20.00	12	3	SNP	0.000	G
ARSG	22901	genome.wustl.edu	37	17	66303639	66303639	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:66303639G>T	ENST00000448504.2	+	2	801	c.5G>T	c.(4-6)gGc>gTc	p.G2V	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	2					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCACCATGGGCTGGCTTTTT	0.468																																																	0													86.0	95.0	92.0					17																	66303639		2203	4300	6503	SO:0001583	missense	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.5G>T	17.37:g.66303639G>T	ENSP00000407193:p.Gly2Val		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G2V	ENST00000448504.2	37	c.5	CCDS11676.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519470	0.27211	.	.	ENSG00000141337	ENST00000452479	D	0.89939	-2.59	5.45	-0.324	0.12706	.	0.508110	0.17992	N	0.155172	T	0.79393	0.4438	N	0.19112	0.55	0.80722	D	1	B	0.27823	0.19	B	0.30029	0.11	T	0.71009	-0.4716	10	0.44086	T	0.13	.	10.7858	0.46405	0.0841:0.6313:0.2846:0.0	.	2	Q96EG1	ARSG_HUMAN	V	2	ENSP00000413953:G2V	ENSP00000413953:G2V	G	+	2	0	ARSG	63815234	0.978000	0.34361	1.000000	0.80357	0.939000	0.58152	0.523000	0.22925	0.378000	0.24764	0.650000	0.86243	GGC	ARSG	-	NULL	ENSG00000141337		0.468	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1	-	0.00	96	0	G	NM_014960		66303639	+1	tier1	-	no_errors	ENST00000448504	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.995	T
ASAP1	50807	genome.wustl.edu	37	8	131191524	131191524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:131191524G>T	ENST00000518721.1	-	9	959	c.732C>A	c.(730-732)taC>taA	p.Y244*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.Y244*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	244					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTGTGCATGGTAATACTTTA	0.353																																																	0													168.0	153.0	158.0					8																	131191524		2203	4300	6503	SO:0001587	stop_gained	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.732C>A	8.37:g.131191524G>T	ENSP00000429900:p.Tyr244*		B2RNV3	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.Y244*	ENST00000518721.1	37	c.732	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	35|35	5.579831|5.579831	0.96565|0.96565	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|.	.|.	.|.	5.78|5.78	-4.54|-4.54	0.03452|0.03452	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29190|.	0.0726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41822|.	-0.9487|.	3|.	.|0.02654	.|T	.|1	.|.	15.5878|15.5878	0.76499|0.76499	0.4339:0.0:0.5661:0.0|0.4339:0.0:0.5661:0.0	.|.	.|.	.|.	.|.	T|X	62|244;244;244;214	.|.	.|ENSP00000344591:Y244X	P|Y	-|-	1|3	0|2	ASAP1|ASAP1	131260706|131260706	0.985000|0.985000	0.35326|0.35326	0.969000|0.969000	0.41365|0.41365	0.994000|0.994000	0.84299|0.84299	0.222000|0.222000	0.17699|0.17699	-0.726000|-0.726000	0.04895|0.04895	-0.334000|-0.334000	0.08254|0.08254	CCA|TAC	ASAP1	-	NULL	ENSG00000153317		0.353	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1		0.00	63	0	G	NM_018482		131191524	-1			no_errors	ENST00000357668	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.787	T
ASAP3	55616	genome.wustl.edu	37	1	23756371	23756371	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:23756371G>T	ENST00000336689.3	-	25	2734	c.2690C>A	c.(2689-2691)tCt>tAt	p.S897Y	ASAP3_ENST00000495646.1_Missense_Mutation_p.S401Y|ASAP3_ENST00000437606.2_Missense_Mutation_p.S888Y	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	897					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGTTGCACAGAACTTGCTGG	0.512																																																	0													81.0	69.0	73.0					1																	23756371		2203	4300	6503	SO:0001583	missense	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2690C>A	1.37:g.23756371G>T	ENSP00000338769:p.Ser897Tyr		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S897Y	ENST00000336689.3	37	c.2690	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188233	0.57909	.	.	ENSG00000088280	ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.58210	1.57;0.35;0.35	4.63	4.63	0.57726	.	0.340804	0.25639	U	0.029287	T	0.33177	0.0854	N	0.19112	0.55	0.27886	N	0.939513	B;B;B	0.20550	0.046;0.027;0.027	B;B;B	0.21360	0.034;0.015;0.015	T	0.11227	-1.0596	10	0.17832	T	0.49	.	8.9074	0.35532	0.1004:0.0:0.8996:0.0	.	888;787;897	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	Y	401;897;197;888	ENSP00000436150:S401Y;ENSP00000338769:S897Y;ENSP00000408826:S888Y	ENSP00000338769:S897Y	S	-	2	0	ASAP3	23628958	1.000000	0.71417	0.941000	0.38009	0.824000	0.46624	1.738000	0.38207	2.580000	0.87095	0.561000	0.74099	TCT	ASAP3	-	NULL	ENSG00000088280		0.512	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2		0.00	27	0	G	NM_017707		23756371	-1			no_errors	ENST00000336689	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.996	T
ASTN2	23245	genome.wustl.edu	37	9	119204756	119204756	+	Missense_Mutation	SNP	G	G	T	rs151278272	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:119204756G>T	ENST00000313400.4	-	21	3674	c.3574C>A	c.(3574-3576)Ctg>Atg	p.L1192M	ASTN2_ENST00000288520.5_Missense_Mutation_p.L293M|ASTN2_ENST00000361477.3_Missense_Mutation_p.L244M|ASTN2_ENST00000373996.3_Missense_Mutation_p.L1188M|ASTN2_ENST00000341734.4_Missense_Mutation_p.L244M|ASTN2_ENST00000361209.2_Missense_Mutation_p.L1141M			O75129	ASTN2_HUMAN	astrotactin 2	1192					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L1141L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCATCTACCAGTGGACAGGCC	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	MET/LEU,MET/LEU,MET/LEU,MET/LEU,MET/LEU	0,4406		0,0,2203	210.0	176.0	188.0		730,3421,877,730,730	3.6	1.0	9	dbSNP_134	188	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense	ASTN2	NM_001184734.1,NM_014010.4,NM_198186.3,NM_198187.3,NM_198188.2	15,15,15,15,15	0,6,6497	TT,TG,GG		0.0698,0.0,0.0461	benign,benign,benign,benign,benign	244/376,1141/1289,293/441,244/403,244/396	119204756	6,13000	2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3574C>A	9.37:g.119204756G>T	ENSP00000314038:p.Leu1192Met		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L1192M	ENST00000313400.4	37	c.3574		9	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099543	0.37048	0.0	6.98E-4	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15372	2.86;2.86;2.43;2.44;2.67;2.86;2.44	5.43	3.59	0.41128	.	0.141721	0.48286	D	0.000189	T	0.18383	0.0441	N	0.08118	0	0.42227	D	0.991871	B;B;B;B;D;B;B	0.64830	0.123;0.123;0.138;0.172;0.994;0.123;0.123	B;B;B;B;D;B;B	0.64877	0.018;0.032;0.013;0.031;0.93;0.032;0.047	T	0.10870	-1.0611	10	0.37606	T	0.19	-12.7114	11.4636	0.50225	0.1446:0.0:0.8554:0.0	.	244;244;1141;1192;1188;244;293	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	M	1192;1188;293;244;915;1141;244	ENSP00000314038:L1192M;ENSP00000363108:L1188M;ENSP00000288520:L293M;ENSP00000339925:L244M;ENSP00000363098:L915M;ENSP00000354504:L1141M;ENSP00000355116:L244M	ENSP00000288520:L293M	L	-	1	2	ASTN2	118244577	0.984000	0.35163	0.982000	0.44146	0.983000	0.72400	1.944000	0.40263	1.292000	0.44672	0.655000	0.94253	CTG	ASTN2	-	NULL	ENSG00000148219		0.498	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0.00	62	0	G	NM_014010		119204756	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.940	T
ATG16L2	89849	genome.wustl.edu	37	11	72533895	72533895	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:72533895G>T	ENST00000321297.5	+	7	851	c.713G>T	c.(712-714)gGc>gTc	p.G238V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	238					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TCTCCTAGGGGCCCGGACACC	0.592																																																	0													25.0	28.0	27.0					11																	72533895		2171	4244	6415	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.713G>T	11.37:g.72533895G>T	ENSP00000326340:p.Gly238Val		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G238V	ENST00000321297.5	37	c.713	CCDS31634.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.224787|2.224787	0.39300|0.39300	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000541554|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.55588	.|0.61;0.61;0.51	5.21|5.21	-3.04|-3.04	0.05412|0.05412	.|.	.|38.028100	.|0.00751	.|N	.|0.001067	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.08118|0.08118	0|0	0.28495|0.28495	N|N	0.91429|0.91429	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07616|0.07616	-1.0763|-1.0763	5|10	.|0.29301	.|T	.|0.29	.|.	0.2336|0.2336	0.00183|0.00183	0.352:0.1472:0.2297:0.2711|0.352:0.1472:0.2297:0.2711	.|.	.|238	.|Q8NAA4	.|A16L2_HUMAN	S|V	22|238;69;69	.|ENSP00000326340:G238V;ENSP00000441989:G69V;ENSP00000437412:G69V	.|ENSP00000326340:G238V	A|G	+|+	1|2	0|0	ATG16L2|ATG16L2	72211543|72211543	0.128000|0.128000	0.22383|0.22383	0.411000|0.411000	0.26484|0.26484	0.003000|0.003000	0.03518|0.03518	0.090000|0.090000	0.15025|0.15025	-0.322000|-0.322000	0.08615|0.08615	0.655000|0.655000	0.94253|0.94253	GCC|GGC	ATG16L2	-	NULL	ENSG00000168010		0.592	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	-	0.00	113	0	G	NM_033388		72533895	+1	tier1	-	no_errors	ENST00000321297	ensembl	human	known	74_37	missense	5.77	98	6	SNP	0.134	T
ATP8B2	57198	genome.wustl.edu	37	1	154307008	154307008	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:154307008G>A	ENST00000368489.3	+	11	877	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.G260S|ATP8B2_ENST00000341822.2_Missense_Mutation_p.G279S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	279					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAAACAGCGGCAGAACAAA	0.547																																																	0													100.0	93.0	95.0					1																	154307008		2203	4300	6503	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.877G>A	1.37:g.154307008G>A	ENSP00000357475:p.Gly293Ser		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G293S	ENST00000368489.3	37	c.877	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184476	0.94885	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.89875	-2.58;-0.94;-0.94	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.92254	0.5811	10	0.52906	T	0.07	.	16.8058	0.85666	0.0:0.0:1.0:0.0	.	279;293;260	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	S	260;293;279	ENSP00000357472:G260S;ENSP00000357475:G293S;ENSP00000340448:G279S	ENSP00000340448:G279S	G	+	1	0	ATP8B2	152573632	1.000000	0.71417	0.976000	0.42696	0.864000	0.49448	9.657000	0.98554	2.547000	0.85894	0.591000	0.81541	GGC	ATP8B2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.547	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	-	0.00	32	0	G	NM_020452		154307008	+1	tier1	-	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
ATP2B4	493	genome.wustl.edu	37	1	203677035	203677035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:203677035G>T	ENST00000357681.5	+	10	2483	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	ATP2B4_ENST00000341360.2_Nonsense_Mutation_p.E454*|ATP2B4_ENST00000391954.2_Nonsense_Mutation_p.E454*|ATP2B4_ENST00000367219.3_Nonsense_Mutation_p.E442*|ATP2B4_ENST00000367218.3_Nonsense_Mutation_p.E454*	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	454					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGATGCTTGTGAGACCATGGG	0.468																																																	0													123.0	113.0	116.0					1																	203677035		2203	4300	6503	SO:0001587	stop_gained	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1360G>T	1.37:g.203677035G>T	ENSP00000350310:p.Glu454*		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.E454*	ENST00000357681.5	37	c.1360	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.568076	0.99207	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	.	.	.	5.54	5.54	0.83059	.	0.000000	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.302	19.0733	0.93148	0.0:0.0:1.0:0.0	.	.	.	.	X	454;454;442;454;454	.	ENSP00000340930:E454X	E	+	1	0	ATP2B4	201943658	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	9.828000	0.99408	2.598000	0.87819	0.462000	0.41574	GAG	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.468	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0.00	49	0	G	NM_001001396		203677035	+1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:117226743G>T	ENST00000355044.3	+	23	3603	c.3477G>T	c.(3475-3477)acG>acT	p.T1159T	ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294																																																	0													130.0	125.0	127.0					10																	117226743		2202	4296	6498	SO:0001819	synonymous_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3477G>T	10.37:g.117226743G>T			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T1159	ENST00000355044.3	37	c.3477	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	91	0	G	XM_049349		117226743	+1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.018	T
BCL7B	9275	genome.wustl.edu	37	7	72951642	72951642	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:72951642C>T	ENST00000223368.2	-	6	1018	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	BCL7B_ENST00000411832.1_Missense_Mutation_p.A142T|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	199				A -> R (in Ref. 1; CAA62012). {ECO:0000305}.			actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTCTGACGCCGTCTGCGGC	0.622																																																	0													78.0	85.0	82.0					7																	72951642		2203	4300	6503	SO:0001583	missense	0			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.595G>A	7.37:g.72951642C>T	ENSP00000223368:p.Ala199Thr		A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	pfam_BCL7	p.A199T	ENST00000223368.2	37	c.595	CCDS5550.1	7	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268494	0.23136	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.46063	0.88	5.13	2.93	0.34026	.	0.606668	0.17378	N	0.176403	T	0.19446	0.0467	N	0.08118	0	0.09310	N	0.999992	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.19289	-1.0310	10	0.21540	T	0.41	.	6.3554	0.21398	0.0:0.7285:0.0:0.2715	.	142;199	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	T	199;142	ENSP00000223368:A199T	ENSP00000223368:A199T	A	-	1	0	BCL7B	72589578	0.534000	0.26362	0.496000	0.27539	0.343000	0.28985	1.376000	0.34306	0.508000	0.28173	0.549000	0.68633	GCG	BCL7B	-	NULL	ENSG00000106635		0.622	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	HGNC	protein_coding	OTTHUMT00000252194.1	-	0.00	35	0	C	NM_001707		72951642	-1	tier1	-	no_errors	ENST00000223368	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.569	T
BCR	613	genome.wustl.edu	37	22	23652503	23652503	+	Intron	SNP	T	T	C	rs201201470	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:23652503T>C	ENST00000305877.8	+	18	3823				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTTCTCCCTACTGTAGATC	0.532			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								C|||	1567	0.312899	0.2784	0.2305	5008	,	,		15891	0.621		0.2227	False		,,,				2504	0.1933							Dom	yes		22	22q11.21	613	breakpoint cluster region		L	1	Unknown(1)	stomach(1)											47.0	46.0	46.0					22																	23652503		1653	3598	5251	SO:0001627	intron_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3073-8T>C	22.37:g.23652503T>C			P78501|Q12842|Q4LE80|Q6NZI3	RNA	SNP	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.532	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	-	0.00	61	0	T	NM_004327		23652503	+1	tier1	rs201201470	no_errors	ENST00000419722	ensembl	human	known	74_37	rna	19.05	17	4	SNP	0.000	C
BIRC7	79444	genome.wustl.edu	37	20	61870941	61870941	+	Missense_Mutation	SNP	G	G	T	rs142521563		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:61870941G>T	ENST00000217169.3	+	6	1095	c.881G>T	c.(880-882)cGc>cTc	p.R294L	NKAIN4_ENST00000466885.1_5'Flank|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Missense_Mutation_p.R189L|BIRC7_ENST00000342412.6_Missense_Mutation_p.R276L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	294					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCCGCGTGCGCACCTTCCTG	0.721																																																	0													29.0	26.0	27.0					20																	61870941		2193	4291	6484	SO:0001583	missense	0			AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.881G>T	20.37:g.61870941G>T	ENSP00000217169:p.Arg294Leu		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.R294L	ENST00000217169.3	37	c.881	CCDS13513.1	20	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204664	0.58234	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.56776	0.64;0.44;1.66	4.89	3.94	0.45596	.	0.000000	0.40728	N	0.001031	T	0.66557	0.2801	M	0.64567	1.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.931;0.982	T	0.68387	-0.5422	10	0.87932	D	0	.	10.498	0.44789	0.162:0.0:0.838:0.0	.	294;276	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	L	276;294;189	ENSP00000345213:R276L;ENSP00000217169:R294L;ENSP00000378717:R189L	ENSP00000217169:R294L	R	+	2	0	BIRC7	61341386	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	4.069000	0.57541	1.038000	0.40049	0.467000	0.42956	CGC	BIRC7	-	NULL	ENSG00000101197		0.721	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC7	HGNC	protein_coding	OTTHUMT00000080114.2		0.00	29	0	G	NM_139317		61870941	+1			no_errors	ENST00000217169	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
BLVRA	644	genome.wustl.edu	37	7	43840087	43840087	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:43840087G>T	ENST00000402924.1	+	7	539	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	BLVRA_ENST00000265523.4_Missense_Mutation_p.V126F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	126					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CGAGGAGCATGTTGAACTCTT	0.483																																																	0													113.0	105.0	108.0					7																	43840087		2203	4300	6503	SO:0001583	missense	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.376G>T	7.37:g.43840087G>T	ENSP00000385757:p.Val126Phe		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.V126F	ENST00000402924.1	37	c.376	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775246	0.49786	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.22743	1.94;1.94	5.21	-3.48	0.04739	NAD(P)-binding domain (1);	0.346364	0.31612	N	0.007358	T	0.14700	0.0355	L	0.60067	1.865	0.27001	N	0.964902	P	0.37352	0.591	B	0.32928	0.155	T	0.09292	-1.0681	10	0.52906	T	0.07	.	7.2355	0.26067	0.675:0.0:0.1859:0.1392	.	126	P53004	BIEA_HUMAN	F	126	ENSP00000265523:V126F;ENSP00000385757:V126F	ENSP00000265523:V126F	V	+	1	0	BLVRA	43806612	0.962000	0.33011	0.207000	0.23584	0.994000	0.84299	1.231000	0.32624	-0.525000	0.06391	0.655000	0.94253	GTT	BLVRA	-	pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.483	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	-	0.00	50	0	G	NM_000712		43840087	+1	tier1	-	no_errors	ENST00000265523	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.709	T
ACAD10	80724	genome.wustl.edu	37	12	112120998	112120998	+	5'Flank	SNP	G	G	T	rs200187507		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:112120998G>T	ENST00000313698.4	+	0	0				ACAD10_ENST00000455480.2_5'Flank|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000392636.2_5'Flank|BRAP_ENST00000327551.6_Missense_Mutation_p.R36S|BRAP_ENST00000419234.4_Missense_Mutation_p.R66S|BRAP_ENST00000539060.1_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATTTCTCGACGGCCGAGATGC	0.458																																																	0													244.0	189.0	208.0					12																	112120998		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112120998G>T	Exception_encountered		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.R66S	ENST00000313698.4	37	c.196	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412009	0.42817	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.42131	0.98;0.99	5.57	4.67	0.58626	.	0.060264	0.64402	D	0.000001	T	0.32315	0.0825	L	0.41573	1.285	0.80722	D	1	B	0.21753	0.06	B	0.13407	0.009	T	0.08207	-1.0733	10	0.23302	T	0.38	-2.7993	11.4413	0.50099	0.0:0.1363:0.7221:0.1417	.	66	Q7Z569	BRAP_HUMAN	S	66;36	ENSP00000403524:R66S;ENSP00000330813:R36S	ENSP00000330813:R36S	R	-	1	0	BRAP	110605381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.425000	0.52771	1.328000	0.45358	0.591000	0.81541	CGT	BRAP	-	NULL	ENSG00000089234		0.458	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000368307.1	-	0.00	76	0	G	NM_025247		112120998	-1	tier1	rs200187507	no_errors	ENST00000419234	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
BRI3	25798	genome.wustl.edu	37	7	97911717	97911717	+	Missense_Mutation	SNP	G	G	T	rs183180327	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:97911717G>T	ENST00000297290.3	+	2	318	c.197G>T	c.(196-198)cGc>cTc	p.R66L	BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Missense_Mutation_p.R66L	NM_015379.4	NP_056194.1	Q9NQX7	ITM2C_HUMAN	brain protein I3	0					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)	4	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)					ACCGTCACCCGCTATCCTGCC	0.622																																																	0													114.0	89.0	97.0					7																	97911717		2203	4300	6503	SO:0001583	missense	0			AF106966	CCDS5656.1, CCDS55133.1	7q21.3	2008-09-05			ENSG00000164713	ENSG00000164713			1109	protein-coding gene	gene with protein product		615628				14592447	Standard	NM_015379		Approved		uc003upi.2	O95415	OTTHUMG00000154275	ENST00000297290.3:c.197G>T	7.37:g.97911717G>T	ENSP00000297290:p.Arg66Leu		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_Brain_I3	p.R66L	ENST00000297290.3	37	c.197	CCDS5656.1	7	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739592	0.30774	.	.	ENSG00000164713	ENST00000539286;ENST00000297290	T;T	0.47528	0.84;0.84	2.86	1.96	0.26148	.	0.220262	0.23012	N	0.052952	T	0.33206	0.0855	N	0.22421	0.69	0.30055	N	0.811396	D;P	0.56035	0.974;0.632	P;B	0.46718	0.525;0.277	T	0.17258	-1.0375	10	0.31617	T	0.26	-14.6497	7.4344	0.27148	0.1425:0.0:0.8575:0.0	.	66;66	F5GXW6;O95415	.;BRI3_HUMAN	L	66	ENSP00000440936:R66L;ENSP00000297290:R66L	ENSP00000297290:R66L	R	+	2	0	BRI3	97749653	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	3.794000	0.55492	1.605000	0.50152	0.561000	0.74099	CGC	BRI3	-	pfam_Brain_I3	ENSG00000164713		0.622	BRI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334674.1	-	0.00	74	0	G	NM_015379		97911717	+1	tier1	-	no_errors	ENST00000297290	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.974	T
BRWD3	254065	genome.wustl.edu	37	X	79936909	79936909	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:79936909G>T	ENST00000373275.4	-	40	4801	c.4585C>A	c.(4585-4587)Cga>Aga	p.R1529R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1529					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCCACTTCGGCTATATCCA	0.403																																																	0													134.0	127.0	129.0					X																	79936909		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4585C>A	X.37:g.79936909G>T			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1529	ENST00000373275.4	37	c.4585	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0.00	53	0	G	NM_153252		79936909	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.271	T
BTN3A1	11119	genome.wustl.edu	37	6	26408018	26408018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:26408018G>T	ENST00000289361.6	+	4	921	c.553G>T	c.(553-555)Gag>Tag	p.E185*	BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.E185*|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.E185*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	185	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CAACAAGGGAGAGAACATCCC	0.557																																																	0													171.0	147.0	155.0					6																	26408018		2203	4300	6503	SO:0001587	stop_gained	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.553G>T	6.37:g.26408018G>T	ENSP00000289361:p.Glu185*		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.E185*	ENST00000289361.6	37	c.553	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	24.4	4.531800	0.85706	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	.	.	.	2.0	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.1942	0.20540	0.0:0.3206:0.6794:0.0	.	.	.	.	X	185	.	ENSP00000289361:E185X	E	+	1	0	BTN3A1	26515997	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.122000	0.15687	0.365000	0.24400	0.511000	0.50034	GAG	BTN3A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000026950		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0.00	89	0	G			26408018	+1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	nonsense	8.33	66	6	SNP	0.001	T
C11orf49	79096	genome.wustl.edu	37	11	47179366	47179366	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:47179366G>T	ENST00000278460.7	+	7	709	c.650G>T	c.(649-651)tGc>tTc	p.C217F	C11orf49_ENST00000543718.1_Missense_Mutation_p.C133F|C11orf49_ENST00000536126.1_Missense_Mutation_p.C120F|C11orf49_ENST00000378615.3_Missense_Mutation_p.C217F|C11orf49_ENST00000378618.2_Missense_Mutation_p.C217F|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.C217F	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	217						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTTCTTAGCTGCCCACCCCCA	0.532																																																	0													143.0	139.0	140.0					11																	47179366		2201	4299	6500	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.650G>T	11.37:g.47179366G>T	ENSP00000278460:p.Cys217Phe		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.C217F	ENST00000278460.7	37	c.650	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157333	0.38119	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000543718;ENST00000526827	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.139441	0.64402	D	0.000002	T	0.45994	0.1370	M	0.70595	2.14	0.54753	D	0.999983	D;D;P;D;D	0.89917	1.0;1.0;0.806;0.994;0.994	D;D;B;D;D	0.85130	0.997;0.997;0.312;0.931;0.931	T	0.17471	-1.0368	10	0.09590	T	0.72	-21.5701	20.6439	0.99570	0.0:0.0:1.0:0.0	.	133;133;217;217;217	F5H6E0;B4DEG1;E9PAX7;Q9H6J7-2;Q9H6J7	.;.;.;.;CK049_HUMAN	F	120;217;217;217;217;133;143	ENSP00000438207:C120F;ENSP00000278460:C217F;ENSP00000367881:C217F;ENSP00000378844:C217F;ENSP00000367878:C217F;ENSP00000437689:C133F;ENSP00000433707:C143F	ENSP00000278460:C217F	C	+	2	0	C11orf49	47135942	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.609000	0.74173	2.884000	0.98904	0.655000	0.94253	TGC	C11orf49	-	NULL	ENSG00000149179		0.532	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	-	0.00	76	0	G	NM_024113		47179366	+1	tier1	-	no_errors	ENST00000378615	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
C11orf63	79864	genome.wustl.edu	37	11	122756889	122756889	+	Missense_Mutation	SNP	G	G	T	rs368246436		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:122756889G>T	ENST00000531316.1	+	1	424	c.332G>T	c.(331-333)gGc>gTc	p.G111V	C11orf63_ENST00000307257.6_Missense_Mutation_p.G111V|C11orf63_ENST00000227349.2_Missense_Mutation_p.G111V			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	111					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TGGGACCAGGGCGCCAATAAC	0.468																																																	0													71.0	74.0	73.0					11																	122756889		2202	4299	6501	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.332G>T	11.37:g.122756889G>T	ENSP00000431669:p.Gly111Val		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.G111V	ENST00000531316.1	37	c.332	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084614	0.36758	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.39406	1.08;1.08	5.1	-3.46	0.04767	.	1.043930	0.07504	N	0.907796	T	0.27098	0.0664	L	0.46741	1.465	0.09310	N	0.999994	B;B	0.20052	0.01;0.041	B;B	0.14578	0.011;0.011	T	0.30416	-0.9979	10	0.31617	T	0.26	-0.17	0.2105	0.00155	0.3228:0.2551:0.1649:0.2573	.	111;111	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	V	111	ENSP00000227349:G111V;ENSP00000431669:G111V	ENSP00000227349:G111V	G	+	2	0	C11orf63	122262099	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.421000	0.07053	-0.264000	0.09365	0.655000	0.94253	GGC	C11orf63	-	NULL	ENSG00000109944		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0.00	34	0	G	NM_024806		122756889	+1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.000	T
CFAP54	144535	genome.wustl.edu	37	12	96915645	96915645	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:96915645G>T	ENST00000524981.4	+	7	976	c.953G>T	c.(952-954)cGg>cTg	p.R318L	C12orf55_ENST00000298953.3_Missense_Mutation_p.R318L			Q96N23	CL055_HUMAN		318																	GCATTTGCTCGGCGTGCTTTG	0.348																																																	0																																										SO:0001583	missense	0																														ENST00000524981.4:c.953G>T	12.37:g.96915645G>T	ENSP00000431759:p.Arg318Leu			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R318L	ENST00000524981.4	37	c.953		12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468023	0.84533	.	.	ENSG00000188596	ENST00000553778;ENST00000524981;ENST00000298953	T;T	0.50813	0.73;0.73	5.76	5.76	0.90799	.	0.104529	0.47852	D	0.000203	T	0.70351	0.3214	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70872	-0.4754	10	0.72032	D	0.01	-19.8773	19.9381	0.97149	0.0:0.0:1.0:0.0	.	270	G3V4Y4	.	L	270;318;318	ENSP00000452066:R270L;ENSP00000298953:R318L	ENSP00000298953:R318L	R	+	2	0	C12orf63	95439776	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.607000	0.82883	2.880000	0.98712	0.650000	0.86243	CGG	C12orf55	-	NULL	ENSG00000188596		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4		0.00	44	0	G			96915645	+1			no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	9.38	29	3	SNP	1.000	T
C1orf140	400804	genome.wustl.edu	37	1	221509313	221509313	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:221509313G>T	ENST00000439004.1	-	0	325					NR_024236.1																						AATCCAGTTCGGTGGTTTGGA	0.498																																																	0													109.0	101.0	103.0					1																	221509313		692	1591	2283			0																															1.37:g.221509313G>T				RNA	SNP	-	NULL	ENST00000439004.1	37	NULL		1																																																																																			RP11-421L10.1	-	-	ENSG00000234754		0.498	RP11-421L10.1-001	KNOWN	basic	lincRNA	C1orf140	Clone_based_vega_gene	lincRNA	OTTHUMT00000091116.2	-	0.00	87	0	G			221509313	-1	tier1	-	no_errors	ENST00000439004	ensembl	human	known	74_37	rna	5.77	98	6	SNP	0.000	T
GNPAT	8443	genome.wustl.edu	37	1	231374738	231374738	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:231374738G>T	ENST00000366647.4	+	0	0				GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_Silent_p.T105T|C1orf131_ENST00000318906.2_Silent_p.T105T|C1orf131_ENST00000366651.3_Silent_p.T105T	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCCTGTGGGGGTCCCAGAAG	0.488																																																	0													71.0	72.0	72.0					1																	231374738		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374738G>T	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	NULL	p.T105	ENST00000366647.4	37	c.315	CCDS1592.1	1																																																																																			C1orf131	-	NULL	ENSG00000143633		0.488	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	-	0.00	43	0	G			231374738	-1	tier1	-	no_errors	ENST00000366649	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.000	T
C2CD5	9847	genome.wustl.edu	37	12	22659647	22659647	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:22659647G>T	ENST00000333957.4	-	10	1400	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	C2CD5_ENST00000396028.2_Missense_Mutation_p.P373H|C2CD5_ENST00000536386.1_Missense_Mutation_p.P384H|C2CD5_ENST00000446597.1_Missense_Mutation_p.P382H|C2CD5_ENST00000542676.1_Missense_Mutation_p.P382H|C2CD5_ENST00000544930.1_Missense_Mutation_p.P175H|C2CD5_ENST00000545552.1_Missense_Mutation_p.P373H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	382					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GAACATACCAGGATTGTGGAT	0.343																																																	0													110.0	115.0	113.0					12																	22659647		2203	4300	6503	SO:0001583	missense	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1145C>A	12.37:g.22659647G>T	ENSP00000334229:p.Pro382His		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P382H	ENST00000333957.4	37	c.1145	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339808	0.81911	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.25	4.35	0.52113	.	0.059438	0.64402	D	0.000002	T	0.68641	0.3023	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.986;0.962;0.996;0.948;1.0;0.921	T	0.72928	-0.4143	10	0.56958	D	0.05	-23.9021	16.1191	0.81329	0.0:0.1341:0.8659:0.0	.	384;382;175;384;373;382	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	H	382;382;384;373;382;373;175	ENSP00000334229:P382H;ENSP00000388756:P382H;ENSP00000439392:P384H;ENSP00000379345:P373H;ENSP00000441951:P382H;ENSP00000443204:P373H;ENSP00000445288:P175H	ENSP00000334229:P382H	P	-	2	0	KIAA0528	22550914	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.224000	0.95209	1.332000	0.45431	0.467000	0.42956	CCT	C2CD5	-	NULL	ENSG00000111731		0.343	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	HGNC	protein_coding	OTTHUMT00000402257.1	-	0.00	28	0	G	NM_014802		22659647	-1	tier1	-	no_errors	ENST00000333957	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T
C2orf71	388939	genome.wustl.edu	37	2	29295619	29295619	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:29295619A>C	ENST00000331664.5	-	1	1508	c.1509T>G	c.(1507-1509)tgT>tgG	p.C503W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	503					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGCCAGGCACACAGACTCA	0.562																																																	0													85.0	88.0	87.0					2																	29295619		2104	4223	6327	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1509T>G	2.37:g.29295619A>C	ENSP00000332809:p.Cys503Trp			Missense_Mutation	SNP	NULL	p.C503W	ENST00000331664.5	37	c.1509	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624095	0.28889	.	.	ENSG00000179270	ENST00000331664	T	0.19532	2.14	4.67	-6.53	0.01866	.	0.938103	0.09071	N	0.852835	T	0.16854	0.0405	L	0.51422	1.61	0.09310	N	1	P	0.50272	0.933	B	0.42386	0.386	T	0.08953	-1.0697	10	0.37606	T	0.19	1.8616	9.3825	0.38322	0.3865:0.0:0.5023:0.1111	.	503	A6NGG8	CB071_HUMAN	W	503	ENSP00000332809:C503W	ENSP00000332809:C503W	C	-	3	2	C2orf71	29149123	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.976000	0.03786	-1.340000	0.02227	0.459000	0.35465	TGT	C2orf71	-	NULL	ENSG00000179270		0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0.00	129	0	A	NM_001029883		29295619	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	19.10	72	17	SNP	0.000	C
C3orf14	57415	genome.wustl.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388																																																	1	Substitution - Missense(1)	lung(1)											113.0	111.0	112.0					3																	62317051		2203	4300	6503	SO:0001583	missense	0			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.229C>T	3.37:g.62317051C>T	ENSP00000418086:p.Arg77Trp		B2R9U0	Missense_Mutation	SNP	NULL	p.R77W	ENST00000494481.1	37	c.229	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399513	0.42512	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	3.33	0.38152	.	1.224480	0.05667	N	0.587906	T	0.24812	0.0602	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.43123	0.409	T	0.25222	-1.0138	9	0.62326	D	0.03	-8.7862	9.3099	0.37898	0.0:0.771:0.0:0.229	.	77	Q9HBI5	CC014_HUMAN	W	77	.	ENSP00000232519:R77W	R	+	1	2	C3orf14	62292091	0.005000	0.15991	0.000000	0.03702	0.874000	0.50279	0.593000	0.23999	0.445000	0.26639	0.644000	0.83932	CGG	C3orf14	-	NULL	ENSG00000114405		0.388	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1		0.00	47	0	C	NM_020685		62317051	+1			no_errors	ENST00000232519	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.011	T
C4BPB	725	genome.wustl.edu	37	1	207263802	207263802	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:207263802G>T	ENST00000243611.5	+	2	502	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	C4BPB_ENST00000367076.3_Missense_Mutation_p.D69Y|C4BPB_ENST00000367078.3_Missense_Mutation_p.D70Y|C4BPB_ENST00000391923.1_Missense_Mutation_p.D70Y|C4BPB_ENST00000451804.2_Missense_Mutation_p.D60Y	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	70	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						TAAGGAGTGGGATAACACCAC	0.443																																																	0													126.0	115.0	118.0					1																	207263802		2203	4300	6503	SO:0001583	missense	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.208G>T	1.37:g.207263802G>T	ENSP00000243611:p.Asp70Tyr		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D70Y	ENST00000243611.5	37	c.208	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659447	0.47467	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.1	-3.07	0.05363	Complement control module (2);Sushi/SCR/CCP (3);	1.165150	0.06305	N	0.701654	T	0.73536	0.3599	M	0.64997	1.995	0.09310	N	0.999992	D;D;D;D	0.65815	0.995;0.99;0.971;0.965	D;P;P;P	0.63597	0.916;0.9;0.776;0.667	T	0.69191	-0.5210	10	0.56958	D	0.05	-0.3228	13.2695	0.60153	0.2431:0.0:0.7569:0.0	.	60;60;70;69	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	Y	70;70;70;69;70;60	ENSP00000356045:D70Y;ENSP00000392237:D70Y;ENSP00000243611:D70Y;ENSP00000356043:D69Y;ENSP00000375790:D70Y;ENSP00000405649:D60Y	ENSP00000243611:D70Y	D	+	1	0	C4BPB	205330425	0.008000	0.16893	0.017000	0.16124	0.086000	0.17979	-0.451000	0.06795	-0.446000	0.07149	-0.312000	0.09012	GAT	C4BPB	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123843		0.443	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	HGNC	protein_coding	OTTHUMT00000087847.2	-	0.00	76	0	G	NM_000716		207263802	+1	tier1	-	no_errors	ENST00000243611	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.025	T
C5orf42	65250	genome.wustl.edu	37	5	37183457	37183457	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:37183457C>T	ENST00000508244.1	-	25	4919	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1609N|C5orf42_ENST00000274258.7_Missense_Mutation_p.S490N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1609						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CACATTCTGGCTTTTAGTTTT	0.328																																																	0													144.0	136.0	138.0					5																	37183457		2203	4300	6503	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4826G>A	5.37:g.37183457C>T	ENSP00000421690:p.Ser1609Asn		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S1609N	ENST00000508244.1	37	c.4826	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055854	0.36277	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.17	2.32	0.28847	.	0.513132	0.18051	N	0.153294	T	0.11537	0.0281	N	0.19112	0.55	0.25736	N	0.985214	B;B	0.20671	0.047;0.047	B;B	0.20955	0.032;0.032	T	0.20140	-1.0284	10	0.62326	D	0.03	.	3.5453	0.07826	0.1373:0.5838:0.1329:0.146	.	1609;490	E9PH94;Q9H799	.;CE042_HUMAN	N	1609;1609;490;657;490	ENSP00000421690:S1609N;ENSP00000389014:S1609N;ENSP00000274258:S490N;ENSP00000424223:S657N	ENSP00000274258:S490N	S	-	2	0	C5orf42	37219214	0.862000	0.29867	0.139000	0.22197	0.834000	0.47266	1.081000	0.30791	0.575000	0.29434	-0.136000	0.14681	AGC	C5orf42	-	NULL	ENSG00000197603		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	68	0	C	NM_023073		37183457	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.896	T
C9orf50	375759	genome.wustl.edu	37	9	132381848	132381848	+	Missense_Mutation	SNP	G	G	T	rs76476617	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:132381848G>T	ENST00000372478.4	-	3	868	c.667C>A	c.(667-669)Ccc>Acc	p.P223T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	223										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CCCTTCAGGGGCCCCAGAATA	0.527																																																	0													103.0	101.0	102.0					9																	132381848		2203	4300	6503	SO:0001583	missense	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.667C>A	9.37:g.132381848G>T	ENSP00000361556:p.Pro223Thr		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.P223T	ENST00000372478.4	37	c.667	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960005	0.00465	.	.	ENSG00000179058	ENST00000372478	T	0.16897	2.31	3.34	-2.92	0.05615	.	1.050780	0.07558	N	0.916519	T	0.05044	0.0135	N	0.04508	-0.205	0.09310	N	1	B	0.23650	0.089	B	0.20184	0.028	T	0.35475	-0.9787	10	0.02654	T	1	-0.9406	3.6831	0.08317	0.4706:0.0:0.324:0.2054	.	223	Q5SZB4	CI050_HUMAN	T	223	ENSP00000361556:P223T	ENSP00000361556:P223T	P	-	1	0	C9orf50	131421669	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.956000	0.03865	-0.641000	0.05487	-0.455000	0.05494	CCC	C9orf50	-	NULL	ENSG00000179058		0.527	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1		0.00	42	0	G	NM_199350		132381848	-1			no_errors	ENST00000372478	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T
CAMSAP2	23271	genome.wustl.edu	37	1	200824002	200824002	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:200824002G>T	ENST00000236925.4	+	15	3963	c.3914G>T	c.(3913-3915)gGc>gTc	p.G1305V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G1278V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.G1294V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1305					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTACATTCAGGCAAGAGGACG	0.343																																																	0													85.0	82.0	83.0					1																	200824002		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3914G>T	1.37:g.200824002G>T	ENSP00000236925:p.Gly1305Val		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.G1305V	ENST00000236925.4	37	c.3914		1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793524	0.50102	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15952	2.39;2.38;2.39	5.93	5.93	0.95920	.	0.199388	0.52532	D	0.000065	T	0.13713	0.0332	N	0.24115	0.695	0.80722	D	1	B;B;B	0.26400	0.148;0.091;0.148	B;B;B	0.27715	0.07;0.082;0.07	T	0.04885	-1.0920	10	0.49607	T	0.09	-20.0244	13.5245	0.61586	0.071:0.0:0.929:0.0	.	1278;1305;1294	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1294;1278;1305	ENSP00000351684:G1294V;ENSP00000416800:G1278V;ENSP00000236925:G1305V	ENSP00000236925:G1305V	G	+	2	0	CAMSAP1L1	199090625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	2.814000	0.96858	0.563000	0.77884	GGC	CAMSAP2	-	NULL	ENSG00000118200		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0.00	68	0	G	NM_203459		200824002	+1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
CANT1	124583	genome.wustl.edu	37	17	76988788	76988788	+	3'UTR	SNP	G	G	A	rs371226687		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:76988788G>A	ENST00000302345.2	-	0	2544				CANT1_ENST00000392446.5_3'UTR	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAAGAACGCCGACATGTGAGA	0.483			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0								G	,,	0,1752		0,0,876	29.0	28.0	28.0		,,	-0.9	0.0	17		28	1,3981		0,1,1990	no	utr-3,utr-3,utr-3	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	0,1,2866	AA,AG,GG		0.0251,0.0,0.0174	,,	,,	76988788	1,5733	876	1991	2867	SO:0001624	3_prime_UTR_variant	0			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.*844C>T	17.37:g.76988788G>A		1172	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	pfam_Apyrase,superfamily_Apyrase	p.R235W	ENST00000302345.2	37	c.703	CCDS11760.1	17																																																																																			CANT1	-	NULL	ENSG00000171302		0.483	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CANT1	HGNC	protein_coding	OTTHUMT00000437723.2	-	0.00	20	0	G	NM_138793		76988788	-1	tier1	-	no_errors	ENST00000592228	ensembl	human	known	74_37	missense	87.50	1	7	SNP	0.000	A
CASQ2	845	genome.wustl.edu	37	1	116280873	116280873	+	Silent	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:116280873A>G	ENST00000261448.5	-	4	743	c.504T>C	c.(502-504)atT>atC	p.I168I	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	168					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAAAAAGCCAATGAGTTTGA	0.458																																																	0													224.0	197.0	206.0					1																	116280873		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.504T>C	1.37:g.116280873A>G			B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.I168	ENST00000261448.5	37	c.504	CCDS884.1	1																																																																																			CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.458	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	-	0.00	72	0	A	NM_001232		116280873	-1	tier1	-	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.876	G
CCDC124	115098	genome.wustl.edu	37	19	18053577	18053577	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:18053577C>T	ENST00000597436.1	+	3	379	c.272C>T	c.(271-273)aCg>aTg	p.T91M	CCDC124_ENST00000445755.2_Missense_Mutation_p.T91M	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	91					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						CGGGTGGCCACGTCCAGCAAG	0.687																																																	0													29.0	26.0	27.0					19																	18053577		1971	3863	5834	SO:0001583	missense	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.272C>T	19.37:g.18053577C>T	ENSP00000471455:p.Thr91Met			Missense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.T91M	ENST00000597436.1	37	c.272	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074589	0.20227	.	.	ENSG00000007080	ENST00000445755	T	0.46451	0.87	3.72	-0.534	0.11883	.	0.974427	0.08434	N	0.946545	T	0.24275	0.0588	L	0.29908	0.895	0.09310	N	1	B	0.32893	0.389	B	0.21151	0.033	T	0.15435	-1.0437	10	0.49607	T	0.09	.	4.7046	0.12844	0.3559:0.5199:0.0:0.1242	.	91	Q96CT7	CC124_HUMAN	M	91	ENSP00000408730:T91M	ENSP00000408730:T91M	T	+	2	0	CCDC124	17914577	0.001000	0.12720	0.000000	0.03702	0.476000	0.33039	0.511000	0.22739	0.010000	0.14839	0.462000	0.41574	ACG	CCDC124	-	NULL	ENSG00000007080		0.687	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0.00	44	0	C	NM_138442		18053577	+1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.000	T
CCDC141	285025	genome.wustl.edu	37	2	179698983	179698983	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:179698983G>T	ENST00000420890.2	-	24	4627	c.4510C>A	c.(4510-4512)Ctg>Atg	p.L1504M	RNU7-104P_ENST00000459398.1_RNA|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	0										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGATTGGCAGCCTGCAGTTA	0.522																																																	0																																										SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4510C>A	2.37:g.179698983G>T	ENSP00000395995:p.Leu1504Met		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L1504M	ENST00000420890.2	37	c.4510		2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435437	0.25813	.	.	ENSG00000163492	ENST00000420890	T	0.48836	0.8	5.95	5.08	0.68730	.	.	.	.	.	T	0.31949	0.0813	N	0.11756	0.17	0.80722	D	1	B	0.24576	0.106	B	0.16289	0.015	T	0.11767	-1.0574	9	0.62326	D	0.03	.	15.1538	0.72723	0.0673:0.0:0.9327:0.0	.	929	Q6ZP82-2	.	M	1504	ENSP00000395995:L1504M	ENSP00000395995:L1504M	L	-	1	2	CCDC141	179407228	1.000000	0.71417	0.869000	0.34112	0.408000	0.30992	2.335000	0.43929	1.536000	0.49237	0.650000	0.86243	CTG	CCDC141	-	NULL	ENSG00000163492		0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0.00	76	0	G	NM_173648		179698983	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
CD109	135228	genome.wustl.edu	37	6	74497118	74497118	+	Silent	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:74497118A>G	ENST00000287097.5	+	21	2611	c.2499A>G	c.(2497-2499)acA>acG	p.T833T	CD109_ENST00000422508.2_Silent_p.T756T|CD109_ENST00000437994.2_Silent_p.T833T			Q6YHK3	CD109_HUMAN	CD109 molecule	833					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCTATCACAGTCACAGCTC	0.453																																																	0													114.0	110.0	112.0					6																	74497118		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2499A>G	6.37:g.74497118A>G			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T833	ENST00000287097.5	37	c.2499	CCDS4982.1	6																																																																																			CD109	-	NULL	ENSG00000156535		0.453	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0.00	46	0	A	NM_133493		74497118	+1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.911	G
CD1B	910	genome.wustl.edu	37	1	158301174	158301174	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:158301174G>T	ENST00000368168.3	-	1	147	c.40C>A	c.(40-42)Cct>Act	p.P14T		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	14					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTACCACCAGGAAAGAGAACA	0.473																																																	0													82.0	73.0	76.0					1																	158301174		2203	4300	6503	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.40C>A	1.37:g.158301174G>T	ENSP00000357150:p.Pro14Thr		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P14T	ENST00000368168.3	37	c.40	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	G	8.255	0.809819	0.16537	.	.	ENSG00000158485	ENST00000368168	T	0.01388	4.95	3.14	1.17	0.20885	.	0.565388	0.13450	N	0.387011	T	0.02193	0.0068	M	0.89414	3.03	0.09310	N	1	P;B	0.49862	0.929;0.046	P;B	0.58172	0.834;0.011	T	0.38478	-0.9659	10	0.39692	T	0.17	-4.4377	3.6265	0.08114	0.1347:0.0:0.6206:0.2447	.	14;14	B4E0D2;P29016	.;CD1B_HUMAN	T	14	ENSP00000357150:P14T	ENSP00000357150:P14T	P	-	1	0	CD1B	156567798	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.161000	0.16481	0.317000	0.23160	0.650000	0.86243	CCT	CD1B	-	NULL	ENSG00000158485		0.473	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	-	0.00	60	0	G	NM_001764		158301174	-1	tier1	-	no_errors	ENST00000368168	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.001	T
CD300C	10871	genome.wustl.edu	37	17	72541893	72541893	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:72541893C>T	ENST00000330793.1	-	1	389	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	10					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGAAGACCGCCACGAGGC	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													57.0	45.0	49.0					17																	72541893		2200	4299	6499	SO:0001583	missense	0			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.29G>A	17.37:g.72541893C>T	ENSP00000329507:p.Arg10Gln			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R10Q	ENST00000330793.1	37	c.29	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165890	0.38217	.	.	ENSG00000167850	ENST00000330793	T	0.03272	3.99	3.54	2.46	0.29980	.	0.350672	0.16364	N	0.217660	T	0.01387	0.0045	N	0.11927	0.2	0.09310	N	1	D	0.59357	0.985	B	0.30029	0.11	T	0.45366	-0.9266	10	0.10111	T	0.7	.	6.9829	0.24713	0.7466:0.2534:0.0:0.0	.	10	Q08708	CLM6_HUMAN	Q	10	ENSP00000329507:R10Q	ENSP00000329507:R10Q	R	-	2	0	CD300C	70053488	0.951000	0.32395	0.166000	0.22797	0.031000	0.12232	1.027000	0.30115	0.749000	0.32854	-0.271000	0.10264	CGG	CD300C	-	NULL	ENSG00000167850		0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	-	0.00	17	0	C	NM_006678		72541893	-1	tier1	-	no_errors	ENST00000330793	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.178	T
CDC42BPA	8476	genome.wustl.edu	37	1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66.0	67.0	66.0					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0.00	61	0	G	NM_014826		227288919	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	10.00	54	6	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24511519	24511519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:24511519G>A	ENST00000264463.4	-	6	1426	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCAATAATTCGGTATTCTACT	0.438										HNSCC(23;0.051)																																							0													226.0	184.0	198.0					5																	24511519		2203	4300	6503	SO:0001587	stop_gained	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.919C>T	5.37:g.24511519G>A	ENSP00000264463:p.Arg307*		Q9ULB3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R307*	ENST00000264463.4	37	c.919	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.947654	0.98577	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.22	4.26	0.50523	.	0.052802	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.242	0.43319	0.0:0.0:0.6039:0.3961	.	.	.	.	X	307	.	ENSP00000264463:R307X	R	-	1	2	CDH10	24547276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.656000	0.54467	2.410000	0.81850	0.650000	0.86243	CGA	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	92	0	G	NM_006727		24511519	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	nonsense	46.03	34	29	SNP	1.000	A
CDH2	1000	genome.wustl.edu	37	18	25727694	25727694	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:25727694C>T	ENST00000269141.3	-	2	538	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	39					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTAAACATCTTCAGGAAAT	0.403																																																	0													89.0	79.0	83.0					18																	25727694		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.115G>A	18.37:g.25727694C>T	ENSP00000269141:p.Asp39Asn		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.D39N	ENST00000269141.3	37	c.115	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749465	0.49257	.	.	ENSG00000170558	ENST00000269141	T	0.44083	0.93	5.53	5.53	0.82687	Cadherin prodomain-like (1);Cadherin-like (1);	0.358059	0.28803	N	0.014082	T	0.57740	0.2074	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.57335	-0.7829	10	0.59425	D	0.04	.	19.818	0.96578	0.0:1.0:0.0:0.0	.	39	P19022	CADH2_HUMAN	N	39	ENSP00000269141:D39N	ENSP00000269141:D39N	D	-	1	0	CDH2	23981692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.571000	0.67404	2.750000	0.94351	0.650000	0.86243	GAT	CDH2	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000170558		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0.00	46	0	C	NM_001792		25727694	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	T
CDK3	1018	genome.wustl.edu	37	17	73998125	73998125	+	Nonsense_Mutation	SNP	G	G	T	rs140567861		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:73998125G>T	ENST00000425876.2	+	3	305	c.217G>T	c.(217-219)Gag>Tag	p.E73*	CDK3_ENST00000448471.1_Nonsense_Mutation_p.E73*|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E73K(1)		central_nervous_system(1)	1						GGTGCACAACGAGAGGAAGCT	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											119.0	100.0	107.0					17																	73998125		2203	4300	6503	SO:0001587	stop_gained	0			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.217G>T	17.37:g.73998125G>T	ENSP00000410561:p.Glu73*			Nonsense_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	p.E73*	ENST00000425876.2	37	c.217	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123753	0.56613	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	.	.	.	4.76	4.76	0.60689	.	0.356461	0.24020	N	0.042282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.3585	13.3969	0.60858	0.0:0.171:0.8289:0.0	.	.	.	.	X	73	.	ENSP00000410561:E73X	E	+	1	0	CDK3	71509720	1.000000	0.71417	0.930000	0.37139	0.027000	0.11550	7.316000	0.79007	2.476000	0.83614	0.655000	0.94253	GAG	CDK3	-	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	ENSG00000250506		0.572	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2		0.00	60	0	G	NM_001258		73998125	+1			no_errors	ENST00000425876	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	0.998	T
CECR1	51816	genome.wustl.edu	37	22	17688043	17688043	+	Missense_Mutation	SNP	G	G	T	rs200153182		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:17688043G>T	ENST00000399839.1	-	3	730	c.460C>A	c.(460-462)Cgt>Agt	p.R154S	CECR1_ENST00000449907.2_Missense_Mutation_p.R112S|CECR1_ENST00000262607.3_Missense_Mutation_p.R154S|CECR1_ENST00000399837.2_Missense_Mutation_p.R154S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	154	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCTGATGGACGGGGAGTTGGG	0.502																																																	0													139.0	133.0	135.0					22																	17688043		2203	4300	6503	SO:0001583	missense	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.460C>A	22.37:g.17688043G>T	ENSP00000382733:p.Arg154Ser		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.R154S	ENST00000399839.1	37	c.460	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	G	1.175	-0.639819	0.03557	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	4.18	4.18	0.49190	.	1.230360	0.05504	N	0.559019	D	0.88676	0.6501	N	0.22421	0.69	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.76375	-0.2982	10	0.09084	T	0.74	.	8.388	0.32512	0.0:0.1684:0.6583:0.1733	.	154	Q9NZK5	CECR1_HUMAN	S	154;154;112;154	ENSP00000382733:R154S;ENSP00000262607:R154S;ENSP00000406443:R112S;ENSP00000382731:R154S	ENSP00000262607:R154S	R	-	1	0	CECR1	16068043	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.004000	0.12878	1.861000	0.53984	0.555000	0.69702	CGT	CECR1	-	tigrfam_Ad_deam-like	ENSG00000093072		0.502	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	-	0.00	136	0	G			17688043	-1	tier1	-	no_errors	ENST00000262607	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T
CELSR2	1952	genome.wustl.edu	37	1	109808369	109808369	+	Missense_Mutation	SNP	C	C	T	rs147176480		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:109808369C>T	ENST00000271332.3	+	14	5801	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1914	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1914R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAACCACTACCGGCCCCCAGG	0.612																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - coding silent(1)	endometrium(1)						C	TRP/ARG	0,4406		0,0,2203	42.0	46.0	45.0		5740	4.6	1.0	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1914/2924	109808369	1,13005	2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5740C>T	1.37:g.109808369C>T	ENSP00000271332:p.Arg1914Trp		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1914W	ENST00000271332.3	37	c.5740	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716308	0.89205	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.71579	-0.58	4.6	4.6	0.57074	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.77205	0.4096	M	0.86178	2.8	0.45366	D	0.99835	D	0.76494	0.999	P	0.56216	0.794	T	0.81805	-0.0764	9	0.87932	D	0	.	12.3341	0.55056	0.169:0.831:0.0:0.0	.	1914	Q9HCU4	CELR2_HUMAN	W	1914	ENSP00000271332:R1914W	ENSP00000271332:R1914W	R	+	1	2	CELSR2	109609892	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	1.952000	0.40343	2.387000	0.81309	0.462000	0.41574	CGG	CELSR2	-	NULL	ENSG00000143126		0.612	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	39	0	C	NM_001408		109808369	+1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.999	T
CEP112	201134	genome.wustl.edu	37	17	64171309	64171309	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:64171309G>T	ENST00000392769.2	-	4	541	c.323C>A	c.(322-324)cCa>cAa	p.P108Q	CEP112_ENST00000537949.1_Missense_Mutation_p.P108Q|CEP112_ENST00000535342.2_Missense_Mutation_p.P108Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	108					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGCTCGTGCTGGATTTGGTTC	0.353																																																	0													80.0	76.0	77.0					17																	64171309		2203	4300	6503	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.323C>A	17.37:g.64171309G>T	ENSP00000376522:p.Pro108Gln		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.P108Q	ENST00000392769.2	37	c.323	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015039	0.35511	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42900	0.96;0.96;1.0	5.21	2.8	0.32819	.	0.411992	0.22097	N	0.064663	T	0.26448	0.0646	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.05354	-1.0890	10	0.19590	T	0.45	-0.4472	10.8661	0.46856	0.0809:0.0:0.7868:0.1323	.	108;108	F5GYE8;Q8N8E3	.;CE112_HUMAN	Q	108	ENSP00000442784:P108Q;ENSP00000376522:P108Q;ENSP00000440775:P108Q	ENSP00000376522:P108Q	P	-	2	0	CEP112	61601771	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.884000	0.56175	1.154000	0.42482	0.555000	0.69702	CCA	CEP112	-	NULL	ENSG00000154240		0.353	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	-	0.00	42	0	G	NM_145036		64171309	-1	tier1	-	no_errors	ENST00000392769	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
CES3	23491	genome.wustl.edu	37	16	67006779	67006779	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:67006779C>T	ENST00000303334.4	+	13	1614	c.1543C>T	c.(1543-1545)Cct>Tct	p.P515S	CES3_ENST00000543856.1_Missense_Mutation_p.P154S|CES3_ENST00000394037.1_Missense_Mutation_p.P512S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	515						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGGCTCTGCCTCCTTGGCC	0.607																																																	0													90.0	96.0	94.0					16																	67006779		2200	4300	6500	SO:0001583	missense	0			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1543C>T	16.37:g.67006779C>T	ENSP00000304782:p.Pro515Ser		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.P515S	ENST00000303334.4	37	c.1543	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494447	0.64186	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.10288	2.89;2.89;2.89	5.03	2.99	0.34606	Carboxylesterase, type B (1);	0.000000	0.34700	N	0.003751	T	0.24890	0.0604	M	0.79475	2.455	0.09310	N	1	D;B	0.65815	0.995;0.417	D;P	0.64237	0.923;0.472	T	0.05533	-1.0879	10	0.66056	D	0.02	.	4.2901	0.10874	0.1584:0.5996:0.1539:0.0881	.	154;515	F5H242;Q6UWW8	.;EST3_HUMAN	S	515;512;154	ENSP00000304782:P515S;ENSP00000377602:P512S;ENSP00000445559:P154S	ENSP00000304782:P515S	P	+	1	0	CES3	65564280	1.000000	0.71417	0.813000	0.32504	0.475000	0.33008	2.928000	0.48908	1.074000	0.40909	0.579000	0.79373	CCT	CES3	-	pfam_CarbesteraseB	ENSG00000172828		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	-	0.00	26	0	C	NM_024922		67006779	+1	tier1	-	no_errors	ENST00000303334	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.200	T
CETN1	1068	genome.wustl.edu	37	18	580532	580532	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:580532G>T	ENST00000327228.3	+	1	166	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.V42M(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CCTCTTCGACGTGGACGGAAG	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)											75.0	57.0	63.0					18																	580532		2203	4300	6503	SO:0001583	missense	0			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.124G>T	18.37:g.580532G>T	ENSP00000319052:p.Val42Leu		B2R536	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V42L	ENST00000327228.3	37	c.124	CCDS11820.1	18	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370271	0.24771	.	.	ENSG00000177143	ENST00000327228	T	0.70986	-0.53	5.2	2.35	0.29111	EF-hand-like domain (1);	0.354615	0.28989	N	0.013484	T	0.49847	0.1581	N	0.20766	0.605	0.19945	N	0.999947	B	0.02656	0.0	B	0.11329	0.006	T	0.43782	-0.9370	10	0.72032	D	0.01	.	4.0542	0.09810	0.1502:0.0:0.4581:0.3917	.	42	Q12798	CETN1_HUMAN	L	42	ENSP00000319052:V42L	ENSP00000319052:V42L	V	+	1	0	CETN1	570532	0.602000	0.26916	0.569000	0.28460	0.001000	0.01503	2.054000	0.41335	0.838000	0.34948	-0.169000	0.13324	GTG	CETN1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000177143		0.562	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	HGNC	protein_coding	OTTHUMT00000254314.2		0.00	47	0	G	NM_004066		580532	+1			no_errors	ENST00000327228	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.991	T
CHD2	1106	genome.wustl.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs		C6G482|Q96IP5	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y1246fs	ENST00000394196.4	37	c.3724_3725	CCDS10374.2	15																																																																																			CHD2	-	NULL	ENSG00000173575		0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3		0.00	29	0	-	NM_001271		93540316	+1	tier1		no_errors	ENST00000557381	ensembl	human	putative	74_37	frame_shift_ins	10.00	27	3	INS	1.000:1.000	A
CHD6	84181	genome.wustl.edu	37	20	40117239	40117239	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:40117239G>T	ENST00000373233.3	-	13	1863	c.1686C>A	c.(1684-1686)aaC>aaA	p.N562K	CHD6_ENST00000309279.7_Missense_Mutation_p.N562K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	562	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGAAAGGGGGTTTCCCTGAG	0.463																																																	0													61.0	61.0	61.0					20																	40117239		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1686C>A	20.37:g.40117239G>T	ENSP00000362330:p.Asn562Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N562K	ENST00000373233.3	37	c.1686	CCDS13317.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.401|8.401	0.841867|0.841867	0.16963|0.16963	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.93247|.	-3.19;-3.19|.	5.12|5.12	1.03|1.03	0.20045|0.20045	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.18425|0.18425	0.0442|0.0442	N|N	0.02674|0.02674	-0.535|-0.535	0.40656|0.40656	D|D	0.982087|0.982087	B|.	0.24963|.	0.115|.	B|.	0.24701|.	0.055|.	T|T	0.05716|0.05716	-1.0868|-1.0868	10|5	0.02654|.	T|.	1|.	-25.1208|-25.1208	5.5788|5.5788	0.17238|0.17238	0.3371:0.0:0.5413:0.1216|0.3371:0.0:0.5413:0.1216	.|.	562|.	Q8TD26|.	CHD6_HUMAN|.	K|N	562|265	ENSP00000362330:N562K;ENSP00000308684:N562K|.	ENSP00000308684:N562K|.	N|T	-|-	3|2	2|0	CHD6|CHD6	39550653|39550653	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	1.890000|1.890000	0.39728|0.39728	0.031000|0.031000	0.15407|0.15407	-0.137000|-0.137000	0.14449|0.14449	AAC|ACC	CHD6	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000124177		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1		0.00	36	0	G			40117239	-1			no_errors	ENST00000373233	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61743014	61743014	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:61743014G>T	ENST00000423902.2	+	15	4135	c.3656G>T	c.(3655-3657)cGa>cTa	p.R1219L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1219					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAATATTACCGAGCCATCCTT	0.398																																																	0													117.0	113.0	114.0					8																	61743014		1857	4092	5949	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3656G>T	8.37:g.61743014G>T	ENSP00000392028:p.Arg1219Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1219L	ENST00000423902.2	37	c.3656	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.334026	0.95758	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.93076	-3.16	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.64402	D	0.000004	D	0.95348	0.8490	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95671	0.8723	10	0.87932	D	0	-8.6432	19.6762	0.95934	0.0:0.0:1.0:0.0	.	1219	Q9P2D1	CHD7_HUMAN	L	1219	ENSP00000392028:R1219L	ENSP00000307304:R1219L	R	+	2	0	CHD7	61905568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.729000	0.93468	0.591000	0.81541	CGA	CHD7	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000171316		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0.00	39	0	G	XM_098762		61743014	+1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
CHRND	1144	genome.wustl.edu	37	2	233390934	233390934	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233390934G>T	ENST00000258385.3	+	1	41	c.9G>T	c.(7-9)ggG>ggT	p.G3G	CHRND_ENST00000543200.1_Silent_p.G3G|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Silent_p.G3G	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	3					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GGATGGAGGGGCCAGTGCTGA	0.667																																																	0													62.0	63.0	63.0					2																	233390934		2203	4300	6503	SO:0001819	synonymous_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.9G>T	2.37:g.233390934G>T			A8K661|B4DT92|Q52LH4	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G3	ENST00000258385.3	37	c.9	CCDS2494.1	2																																																																																			CHRND	-	NULL	ENSG00000135902		0.667	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	-	0.00	41	0	G			233390934	+1	tier1	-	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.346	T
CHST14	113189	genome.wustl.edu	37	15	40764412	40764412	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:40764412G>A	ENST00000306243.5	+	1	1253	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CHST14_ENST00000559991.1_Missense_Mutation_p.E309K	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	334					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)	p.E334K(1)		cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCAGCCCCGAAAGCCTGCA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											61.0	63.0	63.0					15																	40764412		2203	4300	6503	SO:0001583	missense	0			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.1000G>A	15.37:g.40764412G>A	ENSP00000307297:p.Glu334Lys		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	pfam_Sulfotransferase	p.E334K	ENST00000306243.5	37	c.1000	CCDS10059.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215547	0.79352	.	.	ENSG00000169105	ENST00000306243	T	0.73363	-0.74	4.76	4.76	0.60689	.	0.065612	0.64402	D	0.000017	T	0.77232	0.4100	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	P	0.58130	0.833	T	0.73786	-0.3873	10	0.25106	T	0.35	-17.6425	16.9372	0.86206	0.0:0.0:1.0:0.0	.	334	Q8NCH0	CHSTE_HUMAN	K	334	ENSP00000307297:E334K	ENSP00000307297:E334K	E	+	1	0	CHST14	38551704	1.000000	0.71417	0.887000	0.34795	0.988000	0.76386	4.595000	0.61048	2.477000	0.83638	0.655000	0.94253	GAA	CHST14	-	pfam_Sulfotransferase	ENSG00000169105		0.622	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	-	0.00	105	0	G	NM_130468		40764412	+1	tier1	-	no_errors	ENST00000306243	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.997	A
CHST4	10164	genome.wustl.edu	37	16	71571171	71571171	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:71571171C>T	ENST00000338482.5	+	3	934	c.591C>T	c.(589-591)aaC>aaT	p.N197N	CHST4_ENST00000572450.1_Silent_p.N197N|CHST4_ENST00000539698.3_Silent_p.N197N|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	197					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTCCCTCAACCTGCATATCG	0.607																																																	0													70.0	72.0	71.0					16																	71571171		2198	4300	6498	SO:0001819	synonymous_variant	0			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.591C>T	16.37:g.71571171C>T			Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.N197	ENST00000338482.5	37	c.591	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000140835		0.607	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	-	0.00	51	0	C	NM_005769		71571171	+1	tier1	-	no_errors	ENST00000338482	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.999	T
PCGF2	7703	genome.wustl.edu	37	17	36890780	36890781	+	3'UTR	INS	-	-	AAA	rs386386025|rs5820265|rs3066488|rs33995757	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:36890780_36890781insAAA	ENST00000580830.1	-	0	2431_2432				PCGF2_ENST00000360797.2_3'UTR|RNA5SP440_ENST00000363245.1_RNA|CISD3_ENST00000578573.1_3'UTR|CISD3_ENST00000439660.2_3'UTR|PCGF2_ENST00000581345.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACACACACAGGAAAAAAAAAAA	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*696->TTT	17.37:g.36890787_36890789dupAAA			A6NGD8	RNA	INS	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.470	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	11	0	-	NM_007144		36890781	+1	tier1		no_errors	ENST00000578573	ensembl	human	known	74_37	rna	16.67	10	2	INS	0.000:0.000	AAA
CLCA2	9635	genome.wustl.edu	37	1	86913341	86913341	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:86913341G>T	ENST00000370565.4	+	11	2026	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	622					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCCTCATCCTGTGATGATTTA	0.507																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													143.0	135.0	138.0					1																	86913341		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1864G>T	1.37:g.86913341G>T	ENSP00000359596:p.Val622Leu		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V622L	ENST00000370565.4	37	c.1864	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	6.764	0.509757	0.12883	.	.	ENSG00000137975	ENST00000370565	T	0.30714	1.52	5.93	-0.219	0.13135	Domain of unknown function DUF1973 (1);	0.116757	0.52532	D	0.000070	T	0.04907	0.0132	L	0.28274	0.84	0.21604	N	0.999622	B	0.13594	0.008	B	0.14578	0.011	T	0.42582	-0.9443	10	0.12766	T	0.61	-0.9499	5.9342	0.19156	0.4545:0.0:0.4224:0.1232	.	622	Q9UQC9	CLCA2_HUMAN	L	622	ENSP00000359596:V622L	ENSP00000359596:V622L	V	+	1	0	CLCA2	86685929	0.305000	0.24481	0.061000	0.19648	0.062000	0.15995	0.549000	0.23329	-0.060000	0.13132	0.655000	0.94253	GTG	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000137975		0.507	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0.00	77	0	G	NM_006536		86913341	+1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.024	T
CNTNAP1	8506	genome.wustl.edu	37	17	40849294	40849294	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:40849294G>T	ENST00000264638.4	+	21	3694	c.3477G>T	c.(3475-3477)gtG>gtT	p.V1159V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1159	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		cACCTCAGGTGGACTACTTCC	0.592																																																	0													92.0	86.0	88.0					17																	40849294		2203	4300	6503	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3477G>T	17.37:g.40849294G>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V1159	ENST00000264638.4	37	c.3477	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0.00	43	0	G	NM_003632		40849294	+1			no_errors	ENST00000264638	ensembl	human	known	74_37	silent	7.14	39	3	SNP	1.000	T
COBL	23242	genome.wustl.edu	37	7	51096450	51096450	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:51096450G>T	ENST00000265136.7	-	10	2508	c.2343C>A	c.(2341-2343)ggC>ggA	p.G781G	COBL_ENST00000395542.2_Silent_p.G863G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	781					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGAGGGTCGGCCCAGGTGTT	0.572																																					NSCLC(189;2119 2138 12223 30818 34679)												0													38.0	41.0	40.0					7																	51096450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2343C>A	7.37:g.51096450G>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G863	ENST00000265136.7	37	c.2589	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098974	0.08681	.	.	ENSG00000106078	ENST00000457306	.	.	.	5.63	-6.12	0.02124	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41251	-0.9519	5	0.87932	D	0	.	2.0124	0.03490	0.4912:0.1427:0.195:0.171	.	.	.	.	D	227	.	ENSP00000397300:A227D	A	-	2	0	COBL	51063944	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.892000	0.04131	-0.966000	0.03587	-0.797000	0.03246	GCC	COBL	-	NULL	ENSG00000106078		0.572	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1		0.00	25	0	G	NM_015198		51096450	-1			no_errors	ENST00000395542	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.000	T
COL3A1	1281	genome.wustl.edu	37	2	189860905	189860905	+	Splice_Site	SNP	G	G	A	rs587779537|rs587779535		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:189860905G>A	ENST00000304636.3	+	23	1832		c.e23+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGGCCTCCCGTATGTACATT	0.393																																																	0			GRCh37	CS000451	COL3A1	S							57.0	65.0	63.0					2																	189860905		2203	4300	6503	SO:0001630	splice_region_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1662+1G>A	2.37:g.189860905G>A			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	-	e23+1	ENST00000304636.3	37	c.1662+1	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.338453	0.95783	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6339	0.95722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189569150	1.000000	0.71417	0.293000	0.24932	0.959000	0.62525	8.319000	0.89992	2.642000	0.89623	0.462000	0.41574	.	COL3A1	-	-	ENSG00000168542		0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0.00	44	0	G	NM_000090	Intron	189860905	+1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	splice_site	17.39	38	8	SNP	0.995	A
COL4A4	1286	genome.wustl.edu	37	2	227973577	227973577	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:227973577G>T	ENST00000396625.3	-	11	872	c.665C>A	c.(664-666)cCg>cAg	p.P222Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.P222Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	222	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTTGGCCCGGAGGTCCCTA	0.428																																																	0													44.0	38.0	40.0					2																	227973577		1840	4100	5940	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.665C>A	2.37:g.227973577G>T	ENSP00000379866:p.Pro222Gln		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P222Q	ENST00000396625.3	37	c.665	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	4.966	0.179490	0.09443	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93189	-3.18;-3.18	5.23	0.988	0.19796	.	.	.	.	.	D	0.87943	0.6305	L	0.47190	1.495	0.21064	N	0.999793	B	0.18461	0.028	B	0.19148	0.024	T	0.76080	-0.3090	9	0.37606	T	0.19	.	3.4794	0.07597	0.1958:0.0:0.4539:0.3502	.	222	P53420	CO4A4_HUMAN	Q	222	ENSP00000379866:P222Q;ENSP00000328553:P222Q	ENSP00000328553:P222Q	P	-	2	0	COL4A4	227681821	0.960000	0.32886	0.219000	0.23793	0.070000	0.16714	1.609000	0.36858	0.267000	0.21916	-0.237000	0.12165	CCG	COL4A4	-	pfam_Collagen	ENSG00000081052		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0.00	68	0	G	NM_000092		227973577	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.181	T
COL4A4	1286	genome.wustl.edu	37	2	227983419	227983419	+	Nonsense_Mutation	SNP	G	G	T	rs368884003		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:227983419G>T	ENST00000396625.3	-	7	638	c.431C>A	c.(430-432)tCa>tAa	p.S144*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.S144*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	144	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCACCTCTTGAGCCATTGTG	0.502																																																	0													72.0	73.0	73.0					2																	227983419		1848	4081	5929	SO:0001587	stop_gained	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.431C>A	2.37:g.227983419G>T	ENSP00000379866:p.Ser144*		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S144*	ENST00000396625.3	37	c.431	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.548850	0.98352	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.2682	0.93998	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000328553:S144X	S	-	2	0	COL4A4	227691663	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	4.345000	0.59360	2.538000	0.85594	0.655000	0.94253	TCA	COL4A4	-	pfam_Collagen	ENSG00000081052		0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0.00	69	0	G	NM_000092		227983419	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	nonsense	7.46	62	5	SNP	1.000	T
CORO2B	10391	genome.wustl.edu	37	15	69011786	69011786	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:69011786G>T	ENST00000566799.1	+	11	1235	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	CORO2B_ENST00000543950.1_Missense_Mutation_p.K397N|CORO2B_ENST00000540068.1_Missense_Mutation_p.K397N|CORO2B_ENST00000261861.5_Missense_Mutation_p.K397N			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	402					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAGGCTATAAGAAGTCCTCAA	0.448																																																	0													140.0	136.0	138.0					15																	69011786		2200	4298	6498	SO:0001583	missense	0			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1206G>T	15.37:g.69011786G>T	ENSP00000454783:p.Lys402Asn		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K402N	ENST00000566799.1	37	c.1206	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998851	0.35226	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58940	0.3;0.3	5.33	5.33	0.75918	.	1.168490	0.05819	N	0.615401	T	0.54743	0.1877	L	0.40543	1.245	0.38648	D	0.951767	B	0.02656	0.0	B	0.06405	0.002	T	0.20306	-1.0279	10	0.18276	T	0.48	-32.9675	17.5821	0.87971	0.0:0.0:1.0:0.0	.	402	Q9UQ03	COR2B_HUMAN	N	402;397;397	ENSP00000446250:K397N;ENSP00000443819:K397N	ENSP00000261861:K402N	K	+	3	2	CORO2B	66798840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.322000	0.43814	2.506000	0.84524	0.462000	0.41574	AAG	CORO2B	-	NULL	ENSG00000103647		0.448	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		-	0.00	47	0	G	NM_006091		69011786	+1	tier1	-	no_errors	ENST00000566799	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
CPNE4	131034	genome.wustl.edu	37	3	131274342	131274342	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:131274342G>A	ENST00000512055.1	-	16	3241	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	CPNE4_ENST00000512332.1_Splice_Site_p.T390M|CPNE4_ENST00000502818.1_Splice_Site_p.T390M|CPNE4_ENST00000429747.1_Splice_Site_p.T372M|CPNE4_ENST00000511604.1_Splice_Site_p.T372M			Q96A23	CPNE4_HUMAN	copine IV	372	VWFA.					extracellular vesicular exosome (GO:0070062)		p.T372M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTCACTCACCGTGTACTCTGG	0.443																																																	1	Substitution - Missense(1)	endometrium(1)											120.0	105.0	110.0					3																	131274342		2203	4300	6503	SO:0001630	splice_region_variant	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1116+1C>T	3.37:g.131274342G>A			D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.T390M	ENST00000512055.1	37	c.1169	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914148	0.72983	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.61	5.61	0.85477	von Willebrand factor, type A (1);Copine (1);	0.136441	0.64402	D	0.000004	T	0.26085	0.0636	N	0.25332	0.735	0.44500	D	0.997446	P;P	0.48589	0.912;0.87	P;P	0.49140	0.594;0.601	T	0.01225	-1.1413	10	0.62326	D	0.03	-18.8642	11.9827	0.53129	0.0:0.0:0.7226:0.2774	.	390;372	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	372;372;390;372;390	ENSP00000421705:T372M;ENSP00000411904:T372M;ENSP00000424853:T390M;ENSP00000423811:T372M;ENSP00000421646:T390M	ENSP00000411904:T372M	T	-	2	0	CPNE4	132757032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.392000	0.73213	2.636000	0.89361	0.655000	0.94253	ACG	CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.443	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0.00	24	0	G	NM_130808	Missense_Mutation	131274342	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A
CPNE5	57699	genome.wustl.edu	37	6	36711498	36711498	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:36711498G>T	ENST00000244751.2	-	20	2155	c.1531C>A	c.(1531-1533)Cgg>Agg	p.R511R	CPNE5_ENST00000393189.2_Silent_p.R219R|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	511	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCTTCCCCCGGGAGGAGATC	0.647																																																	0													97.0	93.0	94.0					6																	36711498		2203	4300	6503	SO:0001819	synonymous_variant	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1531C>A	6.37:g.36711498G>T			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R511	ENST00000244751.2	37	c.1531	CCDS4825.1	6																																																																																			CPNE5	-	smart_VWF_A,pfscan_VWF_A	ENSG00000124772		0.647	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0.00	77	0	G	NM_020939		36711498	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T
CRIM1	51232	genome.wustl.edu	37	2	36704130	36704130	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:36704130G>T	ENST00000280527.2	+	6	1457	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	364	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGGGGCGTTGCCATCTGCTT	0.498																																																	0													134.0	121.0	125.0					2																	36704130		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1090G>T	2.37:g.36704130G>T	ENSP00000280527:p.Ala364Ser		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.A364S	ENST00000280527.2	37	c.1090	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893471	0.33442	.	.	ENSG00000150938	ENST00000280527	T	0.72167	-0.63	5.93	2.15	0.27550	von Willebrand factor, type C (4);	0.113761	0.64402	N	0.000008	T	0.47040	0.1424	N	0.03948	-0.315	0.26800	N	0.969213	B	0.02656	0.0	B	0.06405	0.002	T	0.38023	-0.9680	10	0.46703	T	0.11	-14.5998	13.575	0.61868	0.0:0.0:0.461:0.539	.	364	Q9NZV1	CRIM1_HUMAN	S	364	ENSP00000280527:A364S	ENSP00000280527:A364S	A	+	1	0	CRIM1	36557634	0.998000	0.40836	0.396000	0.26296	0.955000	0.61496	2.746000	0.47467	0.103000	0.17682	-0.262000	0.10625	GCC	CRIM1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0.00	72	0	G	NM_016441		36704130	+1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.979	T
CRISPLD1	83690	genome.wustl.edu	37	8	75924771	75924771	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:75924771G>T	ENST00000262207.4	+	3	830	c.362G>T	c.(361-363)gGa>gTa	p.G121V	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	121	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGAATTTGGGAGCACACTGG	0.383																																																	0													129.0	118.0	122.0					8																	75924771		2203	4299	6502	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.362G>T	8.37:g.75924771G>T	ENSP00000262207:p.Gly121Val		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.G121V	ENST00000262207.4	37	c.362	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166348	0.78339	.	.	ENSG00000121005	ENST00000262207	T	0.09163	3.01	5.26	4.38	0.52667	CAP domain (3);	0.054392	0.85682	D	0.000000	T	0.28896	0.0717	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01440	-1.1354	10	0.36615	T	0.2	.	14.0855	0.64954	0.0723:0.0:0.9277:0.0	.	121	Q9H336	CRLD1_HUMAN	V	121	ENSP00000262207:G121V	ENSP00000262207:G121V	G	+	2	0	CRISPLD1	76087326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.365000	0.79537	1.454000	0.47793	0.557000	0.71058	GGA	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.383	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0.00	41	0	G	NM_031461		75924771	+1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	T
CSF3R	1441	genome.wustl.edu	37	1	36934836	36934836	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:36934836G>T	ENST00000373106.1	-	12	2044	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	CSF3R_ENST00000361632.4_Silent_p.L499L|CSF3R_ENST00000338937.5_Silent_p.L499L|CSF3R_ENST00000331941.5_Silent_p.L499L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Silent_p.L499L|CSF3R_ENST00000373104.1_Silent_p.L499L|CSF3R_ENST00000418048.2_Silent_p.L499L|CSF3R_ENST00000373103.1_Silent_p.L499L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	499	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGATCTCATAGAGCTGAAAGG	0.507																																																	0													127.0	120.0	122.0					1																	36934836		2203	4300	6503	SO:0001819	synonymous_variant	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1497C>A	1.37:g.36934836G>T				Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L499	ENST00000373106.1	37	c.1497	CCDS413.1	1																																																																																			CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119535		0.507	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0.00	51	0	G	NM_156039		36934836	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.996	T
CTAGE5	4253	genome.wustl.edu	37	14	39790261	39790261	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:39790261G>T	ENST00000280083.3	+	19	1986		c.e19+1		RP11-407N17.3_ENST00000553728.1_Splice_Site|CTAGE5_ENST00000396158.2_Splice_Site|CTAGE5_ENST00000341502.5_Splice_Site|CTAGE5_ENST00000556148.1_Splice_Site|CTAGE5_ENST00000396165.4_Splice_Site|CTAGE5_ENST00000341749.3_Splice_Site|CTAGE5_ENST00000553352.1_Splice_Site|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000557038.1_Splice_Site|RP11-407N17.3_ENST00000603904.1_Splice_Site			O15320	CTGE5_HUMAN	CTAGE family, member 5						positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GGAGGAAGAGGTATATTGTTT	0.373																																																	0													47.0	48.0	48.0					14																	39790261		2203	4300	6503	SO:0001630	splice_region_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1672+1G>T	14.37:g.39790261G>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Splice_Site	SNP	-	e19+1	ENST00000280083.3	37	c.1687+1	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863461	0.71949	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTAGE5;RP11-407N17.3	38860012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.824000	0.97209	0.655000	0.94253	.	CTAGE5	-	-	ENSG00000150527		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2		0.00	56	0	G	NM_005930	Intron	39790261	+1			no_errors	ENST00000396158	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T
CTNNA2	1496	genome.wustl.edu	37	2	80816505	80816505	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:80816505G>C	ENST00000402739.4	+	14	2089	c.2084G>C	c.(2083-2085)aGc>aCc	p.S695T	CTNNA2_ENST00000466387.1_Missense_Mutation_p.S695T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S374T|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S695T|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S695T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S729T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S695T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	695					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGAGAAAAGCAAGCTGGAT	0.483																																																	0													112.0	122.0	118.0					2																	80816505		2200	4300	6500	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2084G>C	2.37:g.80816505G>C	ENSP00000384638:p.Ser695Thr		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S729T	ENST00000402739.4	37	c.2186		2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403618	0.42613	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.97	5.09	0.68999	.	0.131452	0.64402	D	0.000002	T	0.35711	0.0941	L	0.52364	1.645	0.80722	D	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.16722	0.005;0.016;0.007;0.007	T	0.09729	-1.0661	9	.	.	.	.	17.1998	0.86902	0.0:0.1261:0.8739:0.0	.	327;695;695;695	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	T	695;695;729;695;695;695;374	ENSP00000418191:S695T;ENSP00000419295:S695T;ENSP00000355398:S729T;ENSP00000384638:S695T;ENSP00000444675:S695T;ENSP00000441705:S695T;ENSP00000341500:S374T	.	S	+	2	0	CTNNA2	80670016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	1.513000	0.48852	0.655000	0.94253	AGC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	62	0	G	NM_004389		80816505	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	C
CTNND1	1500	genome.wustl.edu	37	11	57564452	57564452	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:57564452G>T	ENST00000399050.4	+	6	1480	c.944G>T	c.(943-945)cGt>cTt	p.R315L	CTNND1_ENST00000361796.4_Missense_Mutation_p.R315L|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532245.1_Missense_Mutation_p.R214L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R261L|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R315L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R214L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R261L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R214L|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.R261L|CTNND1_ENST00000524630.1_Missense_Mutation_p.R315L|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R315L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R214L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R214L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R315L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R261L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R214L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R214L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R261L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R214L|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R315L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R261L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R315L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R261L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R315L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R261L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R315L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R315L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	315					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCTGACCCTCGTCGGCGCCTC	0.527																																																	0													58.0	60.0	59.0					11																	57564452		1969	4161	6130	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.944G>T	11.37:g.57564452G>T	ENSP00000382004:p.Arg315Leu		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R315L	ENST00000399050.4	37	c.944	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675932	0.67928	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.29;-0.3;-0.3;-0.66;-0.29;-0.3;-0.21;-0.31;-0.67;-0.3;-0.21;-0.21;-0.29;-0.55;-0.3;-0.3;-0.3;-0.29;-0.21;-0.66;-0.31;-0.31;-0.3;-0.3;-0.21;-0.3;-0.66;2.12	5.82	5.82	0.92795	Armadillo-like helical (1);	0.158729	0.64402	D	0.000018	T	0.71005	0.3289	L	0.33485	1.01	0.44660	D	0.997642	D;D;D;D;D;P;D;D	0.57257	0.979;0.979;0.965;0.979;0.979;0.775;0.979;0.965	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.549;0.736;0.736;0.457;0.736;0.549	T	0.63812	-0.6552	10	0.11794	T	0.64	-4.6961	19.6883	0.95987	0.0:0.0:1.0:0.0	.	315;315;315;261;261;315;315;315	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	L	315;315;315;315;315;261;214;315;315;315;214;214;315;214;261;261;261;315;214;261;261;261;214;214;214;261;315;237	ENSP00000436543:R315L;ENSP00000434808:R315L;ENSP00000381996:R315L;ENSP00000353902:R315L;ENSP00000354907:R315L;ENSP00000436323:R261L;ENSP00000409930:R214L;ENSP00000382004:R315L;ENSP00000354785:R315L;ENSP00000354823:R315L;ENSP00000432075:R214L;ENSP00000437156:R214L;ENSP00000351527:R315L;ENSP00000434949:R214L;ENSP00000435379:R261L;ENSP00000432243:R261L;ENSP00000436744:R261L;ENSP00000413586:R315L;ENSP00000435266:R214L;ENSP00000435494:R261L;ENSP00000433276:R261L;ENSP00000433334:R261L;ENSP00000437327:R214L;ENSP00000403518:R214L;ENSP00000434017:R214L;ENSP00000435789:R261L;ENSP00000432041:R315L;ENSP00000434202:R237L	ENSP00000351527:R315L	R	+	2	0	CTNND1	57321028	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.176000	0.65026	2.747000	0.94245	0.655000	0.94253	CGT	CTNND1	-	NULL	ENSG00000198561		0.527	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0.00	72	0	G	NM_001331		57564452	+1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
CTSF	8722	genome.wustl.edu	37	11	66335085	66335085	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:66335085G>T	ENST00000310325.5	-	3	470	c.361C>A	c.(361-363)Cgg>Agg	p.R121R	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCCTTCCGCAGCAGCACG	0.592																																																	0													92.0	94.0	93.0					11																	66335085		2200	4295	6495	SO:0001819	synonymous_variant	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.361C>A	11.37:g.66335085G>T			B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.R121	ENST00000310325.5	37	c.361	CCDS8144.1	11																																																																																			CTSF	-	NULL	ENSG00000174080		0.592	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	-	0.00	31	0	G	NM_003793		66335085	-1	tier1	-	no_errors	ENST00000310325	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.941	T
CXorf36	79742	genome.wustl.edu	37	X	45060031	45060031	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:45060031G>T	ENST00000398000.2	-	1	115	c.41C>A	c.(40-42)cCt>cAt	p.P14H	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.P14H	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	14						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAGCCAGCCAGGGCGGAGGGC	0.647																																																	0													16.0	16.0	16.0					X																	45060031		2203	4291	6494	SO:0001583	missense	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.41C>A	X.37:g.45060031G>T	ENSP00000381086:p.Pro14His		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	NULL	p.P14H	ENST00000398000.2	37	c.41	CCDS48096.1	X	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.051330	0.00394	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.30714	1.55;1.52	5.33	-10.7	0.00240	.	1.539810	0.03640	N	0.239316	T	0.22513	0.0543	L	0.40543	1.245	0.09310	N	1	B;P	0.48407	0.0;0.91	B;P	0.44921	0.002;0.464	T	0.37430	-0.9706	10	0.30078	T	0.28	.	7.036	0.24993	0.5104:0.0:0.1908:0.2988	.	14;14	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	H	14	ENSP00000381086:P14H;ENSP00000367168:P14H	ENSP00000367168:P14H	P	-	2	0	CXorf36	44944975	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.705000	0.05052	-3.272000	0.00199	-1.569000	0.00873	CCT	CXorf36	-	NULL	ENSG00000147113		0.647	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	-	0.00	23	0	G	NM_024689		45060031	-1	tier1	-	no_errors	ENST00000398000	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.000	T
CYP2U1	113612	genome.wustl.edu	37	4	108870547	108870547	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:108870547C>T	ENST00000332884.6	+	4	1605	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P235S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	444					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATTGATCTTACCCAACCTGTG	0.408																																																	0													106.0	100.0	102.0					4																	108870547		2203	4300	6503	SO:0001583	missense	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1330C>T	4.37:g.108870547C>T	ENSP00000333212:p.Pro444Ser		B2RMV7|Q96EQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.P444S	ENST00000332884.6	37	c.1330	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295675	0.40594	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.68765	-0.35;-0.35	6.08	3.23	0.37069	.	0.205916	0.52532	D	0.000078	T	0.68375	0.2994	L	0.49455	1.56	0.40296	D	0.978558	B	0.28636	0.218	B	0.42386	0.386	T	0.67726	-0.5596	10	0.40728	T	0.16	.	13.9956	0.64397	0.1014:0.583:0.3156:0.0	.	444	Q7Z449	CP2U1_HUMAN	S	444;401;235	ENSP00000333212:P444S;ENSP00000423667:P235S	ENSP00000333212:P444S	P	+	1	0	CYP2U1	109089996	0.998000	0.40836	0.563000	0.28383	0.170000	0.22686	3.754000	0.55189	0.872000	0.35775	-0.175000	0.13238	CCC	CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000155016		0.408	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0.00	41	0	C	NM_183075		108870547	+1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.813	T
CYTH4	27128	genome.wustl.edu	37	22	37699363	37699363	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:37699363G>T	ENST00000248901.6	+	8	803	c.616G>T	c.(616-618)Gac>Tac	p.D206Y		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	206	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CAACGTCCGGGACAGGCCGCC	0.612																																																	0													83.0	70.0	75.0					22																	37699363		2203	4300	6503	SO:0001583	missense	0			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.616G>T	22.37:g.37699363G>T	ENSP00000248901:p.Asp206Tyr		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.D206Y	ENST00000248901.6	37	c.616	CCDS13946.1	22	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689402	0.68271	.	.	ENSG00000100055	ENST00000248901;ENST00000422721	T	0.55413	0.52	4.54	4.54	0.55810	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.049005	0.85682	D	0.000000	T	0.80210	0.4581	H	0.95504	3.68	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.70716	0.901;0.97	D	0.87061	0.2153	10	0.87932	D	0	.	16.4425	0.83906	0.0:0.0:1.0:0.0	.	206;219	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	Y	206;219	ENSP00000248901:D206Y	ENSP00000248901:D206Y	D	+	1	0	CYTH4	36029309	1.000000	0.71417	0.994000	0.49952	0.297000	0.27493	9.813000	0.99286	2.228000	0.72767	0.561000	0.74099	GAC	CYTH4	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000100055		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH4	HGNC	protein_coding	OTTHUMT00000318917.1	-	0.00	127	0	G			37699363	+1	tier1	-	no_errors	ENST00000248901	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T
DCAF6	55827	genome.wustl.edu	37	1	168014359	168014359	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:168014359C>T	ENST00000312263.6	+	14	2125	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	DCAF6_ENST00000367840.3_Missense_Mutation_p.H718Y|DCAF6_ENST00000367843.3_Missense_Mutation_p.H661Y|DCAF6_ENST00000432587.2_Missense_Mutation_p.H687Y	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	641					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCCTTCAGCTCATGAAGAAAC	0.502																																																	0													59.0	61.0	60.0					1																	168014359		2203	4300	6503	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1921C>T	1.37:g.168014359C>T	ENSP00000311949:p.His641Tyr		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.H718Y	ENST00000312263.6	37	c.2152	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071400	0.36566	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.43	4.46	0.54185	WD40 repeat-like-containing domain (1);	0.701631	0.15116	N	0.279680	T	0.07324	0.0185	N	0.08118	0	0.27345	N	0.956399	B;P;B;P	0.37233	0.337;0.588;0.246;0.588	B;B;B;B	0.37480	0.099;0.251;0.081;0.169	T	0.11084	-1.0602	9	0.13470	T	0.59	.	13.3376	0.60526	0.1573:0.8427:0.0:0.0	.	687;718;641;661	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	Y	661;687;641;718	ENSP00000356817:H661Y;ENSP00000396238:H687Y;ENSP00000311949:H641Y;ENSP00000356814:H718Y	ENSP00000311949:H641Y	H	+	1	0	DCAF6	166280983	0.021000	0.18746	0.229000	0.23960	0.879000	0.50718	2.355000	0.44107	2.547000	0.85894	0.467000	0.42956	CAT	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.502	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0.00	43	0	C	NM_018442		168014359	+1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	missense	66.67	11	22	SNP	0.133	T
DCHS2	54798	genome.wustl.edu	37	4	155156925	155156925	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:155156925G>T	ENST00000357232.4	-	25	7513	c.7514C>A	c.(7513-7515)gCt>gAt	p.A2505D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2505	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGACTATGAGCGATTATTTT	0.388																																																	0													96.0	100.0	99.0					4																	155156925		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7514C>A	4.37:g.155156925G>T	ENSP00000349768:p.Ala2505Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A2505D	ENST00000357232.4	37	c.7514	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298167	0.81025	.	.	ENSG00000197410	ENST00000357232	T	0.76060	-0.99	5.71	5.71	0.89125	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.89283	0.6671	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.90751	0.4657	10	0.87932	D	0	.	19.8596	0.96778	0.0:0.0:1.0:0.0	.	2505	Q6V1P9	PCD23_HUMAN	D	2505	ENSP00000349768:A2505D	ENSP00000349768:A2505D	A	-	2	0	DCHS2	155376375	1.000000	0.71417	0.857000	0.33713	0.846000	0.48090	7.881000	0.87252	2.696000	0.92011	0.467000	0.42956	GCT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.388	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	55	0	G	NM_001142552		155156925	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
DDX1	1653	genome.wustl.edu	37	2	15735282	15735282	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:15735282G>T	ENST00000381341.2	+	3	419	c.30G>T	c.(28-30)atG>atT	p.M10I	DDX1_ENST00000233084.3_Missense_Mutation_p.M10I			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	10	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGGGTGTAATGCCTGAGATTG	0.328																																																	0													123.0	126.0	125.0					2																	15735282		2203	4300	6503	SO:0001583	missense	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.30G>T	2.37:g.15735282G>T	ENSP00000370745:p.Met10Ile		B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.M10I	ENST00000381341.2	37	c.30	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584842	0.65992	.	.	ENSG00000079785	ENST00000381341;ENST00000434671;ENST00000233084;ENST00000543614	T;T	0.39229	1.09;1.09	6.17	6.17	0.99709	RNA helicase, DEAD-box type, Q motif (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	N	0.24115	0.695	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.07770	-1.0755	10	0.19590	T	0.45	-24.8419	19.6509	0.95805	0.0:0.0:1.0:0.0	.	10	Q92499	DDX1_HUMAN	I	10	ENSP00000370745:M10I;ENSP00000233084:M10I	ENSP00000233084:M10I	M	+	3	0	DDX1	15652733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.158000	0.94723	2.941000	0.99782	0.655000	0.94253	ATG	DDX1	-	superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000079785		0.328	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0.00	32	0	G	NM_004939		15735282	+1			no_errors	ENST00000233084	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
DDX39B	7919	genome.wustl.edu	37	6	31498628	31498628	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:31498628G>T	ENST00000396172.1	-	10	1828	c.1198C>A	c.(1198-1200)Ctc>Atc	p.L400I	DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000376177.2_Silent_p.S407S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.L415I|DDX39B_ENST00000458640.1_Missense_Mutation_p.L400I|DDX39B_ENST00000415382.2_Missense_Mutation_p.L322I	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	400	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACATCATTGAGGATCTTGGCA	0.498																																																	0													87.0	86.0	86.0					6																	31498628		1511	2709	4220	SO:0001583	missense	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1198C>A	6.37:g.31498628G>T	ENSP00000379475:p.Leu400Ile		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	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.L415I	ENST00000396172.1	37	c.1243	CCDS4697.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158070	0.78114	.	.	ENSG00000198563	ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382	T;T;T;T	0.52754	1.3;1.3;1.28;0.65	4.53	4.53	0.55603	Helicase, C-terminal (1);	0.101427	0.39146	N	0.001448	T	0.56062	0.1960	L	0.60455	1.87	0.80722	D	1	P;D;P;D	0.57571	0.78;0.98;0.513;0.98	P;D;D;D	0.67725	0.692;0.921;0.953;0.921	T	0.60835	-0.7184	10	0.87932	D	0	-12.7834	14.8312	0.70149	0.0:0.0:1.0:0.0	.	322;400;415;299	B4DP52;Q13838;F8VQ10;B0V2L1	.;DX39B_HUMAN;.;.	I	400;400;415;322	ENSP00000416269:L400I;ENSP00000379475:L400I;ENSP00000412582:L415I;ENSP00000392669:L322I	ENSP00000379475:L400I	L	-	1	0	DDX39B	31606607	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.886000	0.69743	2.362000	0.80069	0.563000	0.77884	CTC	DDX39B	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000198563		0.498	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39B	HGNC	protein_coding	OTTHUMT00000259083.1		0.00	50	0	G	NM_004640		31498628	-1			no_errors	ENST00000417556	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
DDX58	23586	genome.wustl.edu	37	9	32467918	32467918	+	Missense_Mutation	SNP	G	G	T	rs374942642		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:32467918G>T	ENST00000379883.2	-	15	2184	c.2027C>A	c.(2026-2028)cCg>cAg	p.P676Q	DDX58_ENST00000379882.1_Missense_Mutation_p.P631Q|DDX58_ENST00000379868.1_Missense_Mutation_p.P473Q|DDX58_ENST00000542096.1_Missense_Mutation_p.P605Q|DDX58_ENST00000545044.1_Missense_Mutation_p.P473Q	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	676	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTCTGTGCCGGGAGGGTCAT	0.438																																																	0													116.0	108.0	111.0					9																	32467918		2203	4300	6503	SO:0001583	missense	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2027C>A	9.37:g.32467918G>T	ENSP00000369213:p.Pro676Gln		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P676Q	ENST00000379883.2	37	c.2027	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597196	0.46318	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.11	4.22	0.49857	Helicase, C-terminal (3);	0.309228	0.30791	N	0.008864	T	0.67785	0.2930	N	0.04320	-0.23	0.39397	D	0.966517	D;B;B;D	0.67145	0.99;0.076;0.242;0.996	P;B;B;D	0.63957	0.717;0.04;0.109;0.92	T	0.70644	-0.4815	10	0.30854	T	0.27	-9.9981	12.915	0.58200	0.0804:0.0:0.9196:0.0	.	473;631;605;676	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Q	631;676;473;605;473	ENSP00000369212:P631Q;ENSP00000369213:P676Q;ENSP00000369197:P473Q;ENSP00000442160:P605Q;ENSP00000443055:P473Q	ENSP00000369197:P473Q	P	-	2	0	DDX58	32457918	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	3.022000	0.49659	1.292000	0.44672	0.655000	0.94253	CCG	DDX58	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000107201		0.438	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	-	0.00	69	0	G	NM_014314		32467918	-1	tier1	-	no_errors	ENST00000379883	ensembl	human	known	74_37	missense	5.10	93	5	SNP	0.999	T
DENND2C	163259	genome.wustl.edu	37	1	115167822	115167822	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:115167822T>C	ENST00000393274.1	-	4	1409	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.K262E|DENND2C_ENST00000393277.1_Missense_Mutation_p.K262E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	262					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTGATTTTTCCACCATAT	0.333																																																	0													52.0	50.0	50.0					1																	115167822		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.784A>G	1.37:g.115167822T>C	ENSP00000376955:p.Lys262Glu		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K262E	ENST00000393274.1	37	c.784	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499710	0.26861	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.46451	3.57;3.65;0.87	5.2	4.05	0.47172	.	0.401797	0.28790	N	0.014122	T	0.16214	0.0390	L	0.59436	1.845	0.24585	N	0.993852	P;P	0.41313	0.745;0.481	B;B	0.36134	0.218;0.217	T	0.07404	-1.0774	10	0.25106	T	0.35	.	7.5452	0.27761	0.0:0.0741:0.1433:0.7826	.	262;262	Q68D51;Q68D51-3	DEN2C_HUMAN;.	E	262	ENSP00000376957:K262E;ENSP00000376955:K262E;ENSP00000376958:K262E	ENSP00000358553:K262E	K	-	1	0	DENND2C	114969345	1.000000	0.71417	0.885000	0.34714	0.747000	0.42532	2.871000	0.48459	0.808000	0.34231	0.477000	0.44152	AAA	DENND2C	-	NULL	ENSG00000175984		0.333	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0.00	61	0	T	NM_198459		115167822	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.962	C
DLC1	10395	genome.wustl.edu	37	8	12947852	12947852	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:12947852C>A	ENST00000276297.4	-	15	4392	c.3983G>T	c.(3982-3984)tGt>tTt	p.C1328F	DLC1_ENST00000512044.2_Missense_Mutation_p.C925F|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.C817F|DLC1_ENST00000358919.2_Missense_Mutation_p.C891F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1328	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCCATCCACACAGTCCTGGAG	0.498																																																	0													112.0	108.0	110.0					8																	12947852		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3983G>T	8.37:g.12947852C>A	ENSP00000276297:p.Cys1328Phe		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.C1328F	ENST00000276297.4	37	c.3983	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891116	0.72524	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.32	4.44	0.53790	Lipid-binding START (3);START-like domain (1);	0.143577	0.64402	D	0.000009	T	0.80727	0.4678	L	0.54323	1.7	0.80722	D	1	P;B;D	0.54964	0.933;0.44;0.969	P;B;P	0.56648	0.803;0.348;0.558	T	0.81810	-0.0762	10	0.66056	D	0.02	.	9.8722	0.41182	0.0:0.7872:0.1407:0.0721	.	1328;925;891	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	1328;891;267;925;817	ENSP00000276297:C1328F;ENSP00000351797:C891F;ENSP00000422595:C925F;ENSP00000428028:C817F	ENSP00000276297:C1328F	C	-	2	0	DLC1	12992223	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	3.718000	0.54919	1.603000	0.50134	0.655000	0.94253	TGT	DLC1	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000164741		0.498	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0.00	18	0	C	NM_182643, NM_006094		12947852	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A
DLC1	10395	genome.wustl.edu	37	8	12960301	12960301	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:12960301G>T	ENST00000276297.4	-	8	1973	c.1564C>A	c.(1564-1566)Cga>Aga	p.R522R	DLC1_ENST00000512044.2_Silent_p.R119R|DLC1_ENST00000520226.1_Silent_p.R11R|DLC1_ENST00000358919.2_Silent_p.R85R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	522					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATACTCACTCGTTTCCGATGA	0.363																																																	0													191.0	184.0	186.0					8																	12960301		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1564C>A	8.37:g.12960301G>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R522	ENST00000276297.4	37	c.1564	CCDS5989.1	8																																																																																			DLC1	-	NULL	ENSG00000164741		0.363	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	103	0	G	NM_182643, NM_006094		12960301	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.878	T
DLK1	8788	genome.wustl.edu	37	14	101200740	101200740	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:101200740G>T	ENST00000341267.4	+	5	901	c.659G>T	c.(658-660)gGg>gTg	p.G220V	DLK1_ENST00000331224.6_Missense_Mutation_p.G220V	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	220	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCCAGAACGGGGGCACCTGC	0.667																																																	0													30.0	37.0	35.0					14																	101200740		2202	4300	6502	SO:0001583	missense	0			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.659G>T	14.37:g.101200740G>T	ENSP00000340292:p.Gly220Val		P15803|Q96DW5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G220V	ENST00000341267.4	37	c.659	CCDS9963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487236	0.63962	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;T	0.94457	-3.43;-0.19	4.7	4.7	0.59300	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.175034	0.46442	D	0.000286	D	0.98178	0.9398	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99799	1.1035	10	0.87932	D	0	.	16.6457	0.85176	0.0:0.0:1.0:0.0	.	220;220	P80370-2;P80370	.;DLK1_HUMAN	V	220	ENSP00000340292:G220V;ENSP00000331081:G220V	ENSP00000331081:G220V	G	+	2	0	DLK1	100270493	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	6.440000	0.73435	2.149000	0.67028	0.491000	0.48974	GGG	DLK1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000185559		0.667	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	-	0.00	83	0	G			101200740	+1	tier1	-	no_errors	ENST00000341267	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21655910	21655910	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:21655910G>T	ENST00000328843.6	+	22	4126	c.4095G>T	c.(4093-4095)aaG>aaT	p.K1365N	DNAH11_ENST00000409508.3_Splice_Site_p.K1365N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1365	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTGCCAAGGCGAGTTCCA	0.418									Kartagener syndrome																																								0													139.0	135.0	136.0					7																	21655910		1893	4132	6025	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000328843.6:c.4095G>T	7.37:g.21655910G>T	ENSP00000330671:p.Lys1365Asn		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1365N	ENST00000328843.6	37	c.4095		7	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576501	0.65878	.	.	ENSG00000105877	ENST00000328843	T	0.62364	0.03	5.79	5.79	0.91817	Dynein heavy chain, domain-2 (1);	0.052756	0.64402	D	0.000001	T	0.68366	0.2993	.	.	.	0.53688	D	0.999979	D	0.52996	0.957	P	0.53490	0.727	T	0.63391	-0.6648	9	0.26408	T	0.33	.	16.2979	0.82784	0.0:0.0:0.8673:0.1327	.	1365	Q96DT5	DYH11_HUMAN	N	1365	ENSP00000330671:K1365N	ENSP00000330671:K1365N	K	+	3	2	DNAH11	21622435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.978000	0.49305	2.746000	0.94184	0.655000	0.94253	AAG	DNAH11	-	pfam_Dynein_heavy_dom-2	ENSG00000105877		0.418	DNAH11-201	KNOWN	basic|appris_candidate_longest	protein_coding	DNAH11	HGNC	protein_coding		-	0.00	48	0	G	NM_003777		21655910	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13769168	13769168	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:13769168G>T	ENST00000265104.4	-	58	9902	c.9798C>A	c.(9796-9798)gcC>gcA	p.A3266A	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3266	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATGGCCTGGGCCCTGTCCT	0.453									Kartagener syndrome																																								0													311.0	302.0	305.0					5																	13769168		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9798C>A	5.37:g.13769168G>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3266	ENST00000265104.4	37	c.9798	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	45	0	G	NM_001369		13769168	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.994	T
DNAJC7	7266	genome.wustl.edu	37	17	40148376	40148376	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:40148376G>T	ENST00000457167.4	-	4	594	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	DNAJC7_ENST00000426588.3_Missense_Mutation_p.Q64K|DNAJC7_ENST00000316603.7_Missense_Mutation_p.Q64K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	120					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGGGCTCTCTGGAAGCTGCGA	0.488																																					Colon(63;618 1117 8600 10857 19751)												0													89.0	83.0	85.0					17																	40148376		1912	4138	6050	SO:0001583	missense	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.358C>A	17.37:g.40148376G>T	ENSP00000406463:p.Gln120Lys		Q7Z784	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.Q120K	ENST00000457167.4	37	c.358	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160583	0.21454	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.76186	1.36;-1.0;-1.0	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.36672	1.1	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.001;0.009;0.002	T	0.61043	-0.7142	10	0.02654	T	1	-4.8121	19.7014	0.96054	0.0:0.0:1.0:0.0	.	109;64;120	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	K	120;64;64	ENSP00000406463:Q120K;ENSP00000394327:Q64K;ENSP00000313311:Q64K	ENSP00000313311:Q64K	Q	-	1	0	DNAJC7	37401902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.542000	0.82095	2.729000	0.93468	0.655000	0.94253	CAG	DNAJC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168259		0.488	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	-	0.00	68	0	G			40148376	-1	tier1	-	no_errors	ENST00000457167	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T
DNPEP	23549	genome.wustl.edu	37	2	220238951	220238951	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:220238951G>T	ENST00000273075.4	-	0	1741				DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_3'UTR|DNPEP_ENST00000523282.1_3'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCTTCAGCTCAGCTGAG	0.483																																																	0													64.0	55.0	58.0					2																	220238951		692	1591	2283	SO:0001624	3_prime_UTR_variant	0				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.*63C>A	2.37:g.220238951G>T			Q9BW44|Q9NUV5	RNA	SNP	-	NULL	ENST00000273075.4	37	NULL	CCDS42823.1	2																																																																																			DNPEP	-	-	ENSG00000123992		0.483	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1	-	0.00	54	0	G	NM_012100		220238951	-1	tier1	-	no_errors	ENST00000490371	ensembl	human	known	74_37	rna	10.53	34	4	SNP	1.000	T
DPP9	91039	genome.wustl.edu	37	19	4700277	4700277	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:4700277G>T	ENST00000598800.1	-	11	1443	c.938C>A	c.(937-939)cCc>cAc	p.P313H	DPP9_ENST00000597849.1_Missense_Mutation_p.P342H|DPP9_ENST00000594671.1_Missense_Mutation_p.P313H|DPP9_ENST00000262960.9_Missense_Mutation_p.P342H			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	313						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCAATCTTGGGATTCTTGCT	0.587																																																	0													39.0	41.0	41.0					19																	4700277		1928	4141	6069	SO:0001583	missense	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.938C>A	19.37:g.4700277G>T	ENSP00000469603:p.Pro313His		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.P342H	ENST00000598800.1	37	c.1025		19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147311	0.77888	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.37584	1.19	4.63	4.63	0.57726	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.055210	0.85682	D	0.000000	T	0.60856	0.2301	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.976;0.992	T	0.66337	-0.5949	10	0.87932	D	0	-29.9447	16.6532	0.85222	0.0:0.0:1.0:0.0	.	313;342	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	H	421;283;342	ENSP00000262960:P342H	ENSP00000262960:P342H	P	-	2	0	DPP9	4651277	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	9.286000	0.95898	2.403000	0.81681	0.655000	0.94253	CCC	DPP9	-	pfam_Peptidase_S9B	ENSG00000142002		0.587	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0.00	30	0	G			4700277	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
E2F2	1870	genome.wustl.edu	37	1	23842891	23842891	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:23842891G>T	ENST00000361729.2	-	6	1407	c.981C>A	c.(979-981)agC>agA	p.S327R	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	327					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGAGTCAGGGCTGGGGCAGA	0.657																																																	0													59.0	50.0	53.0					1																	23842891		2203	4300	6503	SO:0001583	missense	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.981C>A	1.37:g.23842891G>T	ENSP00000355249:p.Ser327Arg		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.S327R	ENST00000361729.2	37	c.981	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	G	7.108	0.575512	0.13623	.	.	ENSG00000007968	ENST00000361729	D	0.85556	-2.0	4.69	1.79	0.24919	.	0.971478	0.08431	U	0.946882	T	0.74390	0.3710	N	0.22421	0.69	0.09310	N	1	B	0.29716	0.255	B	0.33042	0.157	T	0.58278	-0.7664	10	0.16896	T	0.51	-2.3647	7.1121	0.25396	0.2877:0.0:0.7123:0.0	.	327	Q14209	E2F2_HUMAN	R	327	ENSP00000355249:S327R	ENSP00000355249:S327R	S	-	3	2	E2F2	23715478	0.074000	0.21230	0.085000	0.20634	0.702000	0.40608	1.265000	0.33027	0.215000	0.20761	0.491000	0.48974	AGC	E2F2	-	NULL	ENSG00000007968		0.657	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	-	0.00	55	0	G	NM_004091		23842891	-1	tier1	-	no_errors	ENST00000361729	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T
EGR2	1959	genome.wustl.edu	37	10	64575781	64575781	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:64575781G>T	ENST00000242480.3	-	1	334	c.9C>A	c.(7-9)acC>acA	p.T3T	EGR2_ENST00000493899.2_Intron|EGR2_ENST00000439032.1_Silent_p.T3T|EGR2_ENST00000411732.1_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	3					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCCTTGGCGGTCATCATTT	0.567																																																	0													189.0	173.0	178.0					10																	64575781		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.9C>A	10.37:g.64575781G>T			B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T3	ENST00000242480.3	37	c.9	CCDS7267.1	10																																																																																			EGR2	-	NULL	ENSG00000122877		0.567	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	HGNC	protein_coding	OTTHUMT00000048245.2	-	0.00	50	0	G	NM_000399		64575781	-1	tier1	-	no_errors	ENST00000242480	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.999	T
EIF2AK4	440275	genome.wustl.edu	37	15	40278066	40278066	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:40278066G>T	ENST00000263791.5	+	14	2423	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S	EIF2AK4_ENST00000382727.2_Intron	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	794	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACGACTGAGGCTGTGCACTA	0.493																																																	0													90.0	88.0	89.0					15																	40278066		2008	4187	6195	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2380G>T	15.37:g.40278066G>T	ENSP00000263791:p.Ala794Ser		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.A794S	ENST00000263791.5	37	c.2380	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023292	0.35701	.	.	ENSG00000128829	ENST00000263791	T	0.23348	1.91	6.08	5.16	0.70880	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173767	0.51477	D	0.000097	T	0.09069	0.0224	N	0.02865	-0.47	0.80722	D	1	P	0.35684	0.515	B	0.37387	0.248	T	0.29701	-1.0003	10	0.06625	T	0.88	-16.2545	6.9655	0.24621	0.1737:0.0:0.8263:0.0	.	794	Q9P2K8	E2AK4_HUMAN	S	794	ENSP00000263791:A794S	ENSP00000263791:A794S	A	+	1	0	EIF2AK4	38065358	1.000000	0.71417	0.998000	0.56505	0.323000	0.28346	4.273000	0.58914	2.894000	0.99253	0.591000	0.81541	GCT	EIF2AK4	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom	ENSG00000128829		0.493	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1		0.00	115	0	G			40278066	+1			no_errors	ENST00000263791	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.998	T
EIF4EBP2	1979	genome.wustl.edu	37	10	72179687	72179687	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:72179687G>T	ENST00000373218.4	+	2	186	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	55					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						AATCATTTATGACAGAAAGTT	0.428																																																	0													100.0	102.0	101.0					10																	72179687		2203	4300	6503	SO:0001583	missense	0				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.163G>T	10.37:g.72179687G>T	ENSP00000362314:p.Asp55Tyr			Missense_Mutation	SNP	pfam_EIF4EBP	p.D55Y	ENST00000373218.4	37	c.163	CCDS7303.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662647	0.88251	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.84219	2.685	0.80722	D	1	D	0.57899	0.981	P	0.54815	0.761	T	0.80185	-0.1487	9	0.62326	D	0.03	-13.1135	18.6601	0.91469	0.0:0.0:1.0:0.0	.	55	Q13542	4EBP2_HUMAN	Y	55	.	ENSP00000362314:D55Y	D	+	1	0	EIF4EBP2	71849693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.117000	0.94347	2.781000	0.95711	0.650000	0.86243	GAC	EIF4EBP2	-	pfam_EIF4EBP	ENSG00000148730		0.428	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP2	HGNC	protein_coding	OTTHUMT00000048513.1	-	0.00	25	0	G	NM_004096		72179687	+1	tier1	-	no_errors	ENST00000373218	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
EMC1	23065	genome.wustl.edu	37	1	19561711	19561711	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:19561711G>T	ENST00000477853.1	-	13	1387	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	EMC1_ENST00000375199.3_Missense_Mutation_p.L448M|EMC1_ENST00000375208.3_Missense_Mutation_p.L427M|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	449						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ACTTCTGCCAGGGACTCCTCA	0.562																																																	0													85.0	75.0	79.0					1																	19561711		2203	4300	6503	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1345C>A	1.37:g.19561711G>T	ENSP00000420608:p.Leu449Met		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam	p.L449M	ENST00000477853.1	37	c.1345	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368331|3.368331	0.61513|0.61513	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.61392|.	0.11;0.12;0.12|.	5.91|5.91	0.966|0.966	0.19667|0.19667	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68100|0.68100	0.2964|0.2964	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.998|.	T|T	0.63457|0.63457	-0.6633|-0.6633	10|5	0.87932|.	D|.	0|.	.|.	8.9611|8.9611	0.35847|0.35847	0.4339:0.0:0.5661:0.0|0.4339:0.0:0.5661:0.0	.|.	427;448;448;449|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	M|H	449;448;427|182	ENSP00000420608:L449M;ENSP00000364345:L448M;ENSP00000364354:L427M|.	ENSP00000364345:L448M|.	L|P	-|-	1|2	2|0	KIAA0090|KIAA0090	19434298|19434298	0.059000|0.059000	0.20769|0.20769	0.474000|0.474000	0.27266|0.27266	0.881000|0.881000	0.50899|0.50899	0.361000|0.361000	0.20267|0.20267	-0.062000|-0.062000	0.13088|0.13088	-0.137000|-0.137000	0.14449|0.14449	CTG|CCT	EMC1	-	NULL	ENSG00000127463		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	-	0.00	40	0	G	NM_015047		19561711	-1	tier1	-	no_errors	ENST00000477853	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.646	T
ELF3	1999	genome.wustl.edu	37	1	201981121	201981121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:201981121G>A	ENST00000359651.3	+	2	3392	c.200G>A	c.(199-201)tGg>tAg	p.W67*	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W67*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.W67*|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCCCAGTTCTGGTCGAAGACG	0.582																																																	0													108.0	110.0	109.0					1																	201981121		2203	4300	6503	SO:0001587	stop_gained	0			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.200G>A	1.37:g.201981121G>A	ENSP00000352673:p.Trp67*			Nonsense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.W67*	ENST00000359651.3	37	c.200	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.731789	0.96856	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	.	.	.	5.56	5.56	0.83823	.	0.143058	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	X	67;67;67;67;65	.	ENSP00000311348:W67X	W	+	2	0	ELF3	200247744	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	9.087000	0.94110	2.608000	0.88229	0.591000	0.81541	TGG	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom	ENSG00000163435		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	-	0.00	42	0	G	NM_004433		201981121	+1	tier1	-	no_errors	ENST00000359651	ensembl	human	known	74_37	nonsense	66.67	13	26	SNP	1.000	A
EN1	2019	genome.wustl.edu	37	2	119600699	119600699	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:119600699G>T	ENST00000295206.6	-	2	1504	c.994C>A	c.(994-996)Cgg>Agg	p.R332R	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	332					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCTGCCGCCGCTGCTCCGTG	0.607																																																	0													52.0	48.0	49.0					2																	119600699		2203	4300	6503	SO:0001819	synonymous_variant	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.994C>A	2.37:g.119600699G>T			Q4ZG44	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R332	ENST00000295206.6	37	c.994	CCDS2123.1	2																																																																																			EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163064		0.607	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0.00	69	0	G			119600699	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T
AC109351.1	0	genome.wustl.edu	37	4	29751861	29751861	+	RNA	DEL	A	A	-	rs113375137	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:29751861delA	ENST00000390756.1	+	0	44																											CTTGAGAAGGAAAAAAAAAAT	0.308													|||unknown(HR)	243	0.0485224	0.0961	0.0375	5008	,	,		17644	0.0069		0.0596	False		,,,				2504	0.0235																0																																												0																															4.37:g.29751861delA				RNA	DEL	-	NULL	ENST00000390756.1	37	NULL		4																																																																																			AC109351.1	-	-	ENSG00000212045		0.308	AC109351.1-201	NOVEL	basic	miRNA	ENSG00000212045	Clone_based_ensembl_gene	miRNA			0.00	41	0	A			29751861	+1	tier1		no_errors	ENST00000390756	ensembl	human	novel	74_37	rna	13.79	25	4	DEL	1.000	-
RP11-754I20.1	0	genome.wustl.edu	37	14	19110364	19110364	+	RNA	SNP	C	C	T	rs202151254	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:19110364C>T	ENST00000553170.1	+	0	62																											ATAAGAGATGCGAAGAAGAGG	0.607													C|||	20	0.00399361	0.0098	0.0058	5008	,	,		25838	0.001		0.002	False		,,,				2504	0.0																0																																												0																															14.37:g.19110364C>T				RNA	SNP	-	NULL	ENST00000553170.1	37	NULL		14																																																																																			RP11-754I20.1	-	-	ENSG00000215398		0.607	RP11-754I20.1-002	KNOWN	basic	processed_transcript	ENSG00000215398	Clone_based_vega_gene	pseudogene	OTTHUMT00000408394.1	-	0.00	372	0	C			19110364	+1	tier1	-	no_errors	ENST00000553170	ensembl	human	known	74_37	rna	19.10	161	38	SNP	0.850	T
AL035045.1	0	genome.wustl.edu	37	20	17823333	17823333	+	RNA	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:17823333C>T	ENST00000408293.1	+	0	107																											ttattcattgcccatctgaaa	0.343																																																	0																																												0																															20.37:g.17823333C>T				RNA	SNP	-	NULL	ENST00000408293.1	37	NULL		20																																																																																			AL035045.1	-	-	ENSG00000221220		0.343	AL035045.1-201	NOVEL	basic	miRNA	ENSG00000221220	Clone_based_ensembl_gene	miRNA		-	0.00	90	0	C			17823333	+1	tier1	-	no_errors	ENST00000408293	ensembl	human	novel	74_37	rna	58.82	21	30	SNP	0.001	T
AC026781.1	0	genome.wustl.edu	37	5	92053146	92053147	+	RNA	DEL	TG	TG	-	rs369530763		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:92053146_92053147delTG	ENST00000408883.1	-	0	73_74																											ATAgtgtgtctgtgtgtgtgtg	0.267																																																	0																																												0																															5.37:g.92053156_92053157delTG				RNA	DEL	-	NULL	ENST00000408883.1	37	NULL		5																																																																																			AC026781.1	-	-	ENSG00000221810		0.267	AC026781.1-201	NOVEL	basic	miRNA	ENSG00000221810	Clone_based_ensembl_gene	miRNA			0.00	24	0	TG			92053147	-1	tier1		no_errors	ENST00000408883	ensembl	human	novel	74_37	rna	33.33	4	2	DEL	0.002:0.000	-
RP13-60M5.2	0	genome.wustl.edu	37	9	91262478	91262478	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:91262478G>A	ENST00000418343.2	-	0	273																											TTTTGTAGCTGATGAACACAT	0.413																																																	0													168.0	160.0	163.0					9																	91262478		1935	4139	6074			0																															9.37:g.91262478G>A				RNA	SNP	-	NULL	ENST00000418343.2	37	NULL		9																																																																																			RP13-60M5.2	-	-	ENSG00000228189		0.413	RP13-60M5.2-001	KNOWN	basic	lincRNA	ENSG00000228189	Clone_based_vega_gene	lincRNA	OTTHUMT00000052976.2	-	0.00	109	0	G			91262478	-1	tier1	-	no_errors	ENST00000418343	ensembl	human	known	74_37	rna	9.72	65	7	SNP	0.033	A
TMEM18	129787	genome.wustl.edu	37	2	677447	677447	+	5'Flank	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:677447C>A	ENST00000281017.3	-	0	0				TMEM18_ENST00000355654.2_5'Flank|AC092159.2_ENST00000445418.1_RNA|TMEM18_ENST00000405941.3_5'Flank|AC092159.2_ENST00000435573.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18						cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCCCTTCTCACGAAACTTGCG	0.542																																																	0																																										SO:0001631	upstream_gene_variant	0			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381		2.37:g.677447C>A	Exception_encountered		D6W4X9|Q8N5H2|Q9NTH3	RNA	SNP	-	NULL	ENST00000281017.3	37	NULL	CCDS33141.1	2																																																																																			AC092159.2	-	-	ENSG00000233296		0.542	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233296	Clone_based_vega_gene	protein_coding	OTTHUMT00000322427.1		0.00	37	0	C	NM_152834		677447	+1			no_errors	ENST00000445418	ensembl	human	known	74_37	rna	21.74	18	5	SNP	0.008	A
RP11-146E13.4	0	genome.wustl.edu	37	14	19856372	19856372	+	lincRNA	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:19856372A>G	ENST00000548109.1	+	0	72																											TATACGTGGGAAAAAAAAAAG	0.358																																																	0																																												0																															14.37:g.19856372A>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.358	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1		0.00	15	0	A			19856372	-1			no_errors	ENST00000551334	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.001	G
ATR	545	genome.wustl.edu	37	3	142184164	142184164	+	Intron	DEL	A	A	-	rs78538255		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:142184164delA	ENST00000350721.4	-	41	7019				ATR_ENST00000383101.3_Intron|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGTTATGTAAAAAAAAAAA	0.244								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6898-82T>-	3.37:g.142184164delA			Q59HB2|Q7KYL3|Q93051|Q9BXK4	RNA	DEL	-	NULL	ENST00000350721.4	37	NULL	CCDS3124.1	3																																																																																			RP11-383G6.3	-	-	ENSG00000244327		0.244	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244327	Clone_based_vega_gene	protein_coding	OTTHUMT00000353995.2		0.00	25	0	A	NM_001184		142184164	-1	tier1		no_errors	ENST00000460977	ensembl	human	known	74_37	rna	33.33	10	5	DEL	0.001	-
UBQLN1	29979	genome.wustl.edu	37	9	86322601	86322603	+	5'UTR	DEL	GGC	GGC	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:86322601_86322603delGGC	ENST00000376395.4	-	0	515_517				RP11-522I20.3_ENST00000524818.1_RNA|RP11-522I20.3_ENST00000531661.1_RNA|UBQLN1_ENST00000257468.7_5'UTR	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1						cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCATGGCTGTGGCGGCGGCGGCG	0.724																																					Melanoma(186;1284 2073 12755 14558 18426)												0																																										SO:0001623	5_prime_UTR_variant	0			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.-9GCC>-	9.37:g.86322610_86322612delGGC			Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	RNA	DEL	-	NULL	ENST00000376395.4	37	NULL	CCDS6663.1	9																																																																																			RP11-522I20.3	-	-	ENSG00000254473		0.724	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000254473	Clone_based_vega_gene	protein_coding	OTTHUMT00000052834.1		0.00	57	0	GGC	NM_013438		86322603	+1	tier1		no_errors	ENST00000524818	ensembl	human	known	74_37	rna	11.11	16	2	DEL	0.979:0.997:1.000	-
EP300	2033	genome.wustl.edu	37	22	41553298	41553298	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:41553298G>T	ENST00000263253.7	+	18	4606	c.3387G>T	c.(3385-3387)tgG>tgT	p.W1129C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1129	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATAATGCCTGGTTATATAACC	0.423			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													113.0	107.0	109.0					22																	41553298		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3387G>T	22.37:g.41553298G>T	ENSP00000263253:p.Trp1129Cys		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.W1129C	ENST00000263253.7	37	c.3387	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872185	0.72180	.	.	ENSG00000100393	ENST00000263253	T	0.28895	1.59	5.7	5.7	0.88788	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.46145	D	0.000307	T	0.46541	0.1398	N	0.26042	0.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46414	-0.9193	10	0.87932	D	0	-3.7416	19.8463	0.96708	0.0:0.0:1.0:0.0	.	1129	Q09472	EP300_HUMAN	C	1129	ENSP00000263253:W1129C	ENSP00000263253:W1129C	W	+	3	0	EP300	39883244	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGG	EP300	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000100393		0.423	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0.00	42	0	G	NM_001429		41553298	+1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43529453	43529453	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:43529453G>A	ENST00000282041.5	-	5	1528	c.1494C>T	c.(1492-1494)atC>atT	p.I498I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	498					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCATACCTGGATAAAAGGAA	0.413																																																	0													79.0	74.0	75.0					18																	43529453		1844	4091	5935	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1494C>T	18.37:g.43529453G>A			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.I498	ENST00000282041.5	37	c.1494	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.413	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0.00	16	0	G	NM_020964		43529453	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	silent	54.55	5	6	SNP	0.846	A
EPHX4	253152	genome.wustl.edu	37	1	92498098	92498098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:92498098G>T	ENST00000370383.4	+	2	366	c.268G>T	c.(268-270)Gaa>Taa	p.E90*		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	90						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCTGCTGGAGAAAGAGGCAA	0.363																																					GBM(140;473 1857 5172 22066 49719)												0													210.0	198.0	202.0					1																	92498098		2203	4300	6503	SO:0001587	stop_gained	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.268G>T	1.37:g.92498098G>T	ENSP00000359410:p.Glu90*		Q8NCC6	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.E90*	ENST00000370383.4	37	c.268	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.431917	0.98279	.	.	ENSG00000172031	ENST00000370383	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000359410:E90X	E	+	1	0	EPHX4	92270686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.702000	0.91338	2.670000	0.90874	0.563000	0.77884	GAA	EPHX4	-	NULL	ENSG00000172031		0.363	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	-	0.00	63	0	G	NM_173567		92498098	+1	tier1	-	no_errors	ENST00000370383	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212483991	212483991	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:212483991C>A	ENST00000342788.4	-	19	2522	c.2212G>T	c.(2212-2214)Gta>Tta	p.V738L	ERBB4_ENST00000436443.1_Missense_Mutation_p.V738L|ERBB4_ENST00000402597.1_Missense_Mutation_p.V728L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	738	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCTTCAGGTACCCAAATACCC	0.338										TSP Lung(8;0.080)																																							0													88.0	88.0	88.0					2																	212483991		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2212G>T	2.37:g.212483991C>A	ENSP00000342235:p.Val738Leu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V738L	ENST00000342788.4	37	c.2212	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790089	0.50102	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82344	-1.6;-1.6;-1.6	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.063668	0.64402	D	0.000003	T	0.65954	0.2741	N	0.01576	-0.805	0.80722	D	1	B;B;B;B	0.28667	0.044;0.001;0.09;0.219	B;B;B;B	0.30855	0.022;0.009;0.03;0.121	T	0.69767	-0.5056	10	0.59425	D	0.04	.	18.0478	0.89338	0.0:1.0:0.0:0.0	.	728;728;738;738	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	738;738;728	ENSP00000342235:V738L;ENSP00000403204:V738L;ENSP00000385565:V728L	ENSP00000342235:V738L	V	-	1	0	ERBB4	212192236	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.997000	0.49457	2.436000	0.82500	0.655000	0.94253	GTA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	42	0	C	NM_001042599		212483991	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53681812	53681812	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:53681812G>T	ENST00000257934.4	+	19	4324	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L	ESPL1_ENST00000552462.1_Silent_p.L1411L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1411					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGCCTGGCTGGCAGAGGAGC	0.597											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)												0													38.0	42.0	40.0					12																	53681812		2201	4297	6498	SO:0001819	synonymous_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4233G>T	12.37:g.53681812G>T		994		Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.L1411	ENST00000257934.4	37	c.4233	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0.00	94	0	G	NM_012291		53681812	+1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.011	T
ESRP1	54845	genome.wustl.edu	37	8	95690544	95690544	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:95690544G>A	ENST00000433389.2	+	13	1955	c.1765G>A	c.(1765-1767)Gcg>Acg	p.A589T	ESRP1_ENST00000454170.2_Missense_Mutation_p.A589T|ESRP1_ENST00000358397.5_Missense_Mutation_p.A585T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A585T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	589					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCCCTCCACAGCGTACTACCC	0.512																																																	0													95.0	92.0	93.0					8																	95690544		2048	4215	6263	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1765G>A	8.37:g.95690544G>A	ENSP00000405738:p.Ala589Thr		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.A589T	ENST00000433389.2	37	c.1765	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.86|13.86	2.363259|2.363259	0.41902|0.41902	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.13196|.	2.84;2.81;2.82;2.74;2.61|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.149772|.	0.64402|.	D|.	0.000013|.	T|T	0.57242|0.57242	0.2040|0.2040	N|N	0.25890|0.25890	0.77|0.77	0.42186|0.42186	D|D	0.991705|0.991705	P;B;B;B;B;B|.	0.36990|.	0.577;0.123;0.079;0.026;0.073;0.044|.	B;B;B;B;B;B|.	0.37091|.	0.241;0.108;0.076;0.015;0.075;0.034|.	T|T	0.51631|0.51631	-0.8681|-0.8681	10|5	0.44086|.	T|.	0.13|.	-13.3779|-13.3779	19.4592|19.4592	0.94910|0.94910	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	589;589;589;585;585;589|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|N	585;589;585;589;448|454	ENSP00000407349:A585T;ENSP00000405738:A589T;ENSP00000351168:A585T;ENSP00000402766:A589T;ENSP00000429125:A448T|.	ENSP00000351168:A585T|.	A|S	+|+	1|2	0|0	ESRP1|ESRP1	95759720|95759720	0.999000|0.999000	0.42202|0.42202	0.290000|0.290000	0.24890|0.24890	0.634000|0.634000	0.38068|0.38068	3.045000|3.045000	0.49838|0.49838	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCG|AGC	ESRP1	-	NULL	ENSG00000104413		0.512	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	-	0.00	93	0	G	NM_017697		95690544	+1	tier1	-	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	55.00	18	22	SNP	0.911	A
FAM154A	158297	genome.wustl.edu	37	9	18928737	18928737	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:18928737G>T	ENST00000380534.4	-	4	1017	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Silent_p.G54G	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532																																																	0													59.0	66.0	63.0					9																	18928737		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.738C>A	9.37:g.18928737G>T			Q5VY58	Silent	SNP	NULL	p.G246	ENST00000380534.4	37	c.738	CCDS6487.1	9																																																																																			FAM154A	-	NULL	ENSG00000155875		0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1		0.00	88	0	G	NM_153707		18928737	-1			no_errors	ENST00000380534	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.986	T
FAM179A	165186	genome.wustl.edu	37	2	29255902	29255902	+	Silent	SNP	G	G	T	rs376264991		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:29255902G>T	ENST00000379558.4	+	15	2466	c.2115G>T	c.(2113-2115)gcG>gcT	p.A705A	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.A650A	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	705										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						AGGTCATGGCGGCCATTAAAC	0.517																																																	0													79.0	73.0	75.0					2																	29255902		1997	4200	6197	SO:0001819	synonymous_variant	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.2115G>T	2.37:g.29255902G>T			Q6ZUF5	Silent	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.A705	ENST00000379558.4	37	c.2115	CCDS1769.2	2																																																																																			FAM179A	-	superfamily_ARM-type_fold	ENSG00000189350		0.517	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0.00	95	0	G	NM_199280		29255902	+1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.002	T
FAM184A	79632	genome.wustl.edu	37	6	119301428	119301428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:119301428G>A	ENST00000338891.7	-	10	2619	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.R606*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.R726*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.R606*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	726						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGCCGCTGTCGTTCTTGCGTA	0.433																																																	0													112.0	107.0	108.0					6																	119301428		1903	4123	6026	SO:0001587	stop_gained	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2176C>T	6.37:g.119301428G>A	ENSP00000342604:p.Arg726*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R726*	ENST00000338891.7	37	c.2176	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.452410	0.99408	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.282	17.0043	0.86388	0.0:0.0:0.872:0.128	.	.	.	.	X	726;606;606;726	.	ENSP00000342604:R726X	R	-	1	2	FAM184A	119343127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.786000	0.62425	2.941000	0.99782	0.655000	0.94253	CGA	FAM184A	-	NULL	ENSG00000111879		0.433	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0.00	87	0	G	NM_024581		119301428	-1	tier1	-	no_errors	ENST00000338891	ensembl	human	known	74_37	nonsense	25.32	57	20	SNP	1.000	A
FAM205B	389715	genome.wustl.edu	37	9	34834937	34834937	+	RNA	SNP	A	A	G	rs202203144	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:34834937A>G	ENST00000455647.2	-	0	1456							Q63HN1	F205B_HUMAN	family with sequence similarity 205, member B									p.L184L(2)									CAATCTTGGGAAGGCCTTGAG	0.517													G|||	2480	0.495208	0.5461	0.3559	5008	,	,		11564	0.5952		0.327	False		,,,				2504	0.5951																2	Substitution - coding silent(2)	endometrium(2)																																										0					9p13.3	2013-05-22	2011-08-15	2011-08-15	ENSG00000257198	ENSG00000257198			24504	other	unknown			"""chromosome 9 open reading frame 144"""	C9orf144			Standard	NR_024481		Approved	DKFZp434J193, C9orf144A	uc003zvp.4	Q63HN1	OTTHUMG00000019839		9.37:g.34834937A>G			Q6ZRJ7	RNA	SNP	-	NULL	ENST00000455647.2	37	NULL		9																																																																																			FAM205B	-	-	ENSG00000257198		0.517	FAM205B-001	KNOWN	basic	processed_transcript	FAM205B	HGNC	pseudogene	OTTHUMT00000052246.5	-	0.00	22	0	A	NR_024481		34834937	-1	tier1	rs202203144	no_errors	ENST00000455647	ensembl	human	known	74_37	rna	66.67	6	12	SNP	0.000	G
FAM209A	200232	genome.wustl.edu	37	20	55100875	55100875	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:55100875G>T	ENST00000371328.3	+	2	588	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	89						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GAGTCCTCCTGGCCTTCGAGG	0.438																																																	0													136.0	143.0	141.0					20																	55100875		2203	4300	6503	SO:0001583	missense	0			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.265G>T	20.37:g.55100875G>T	ENSP00000360379:p.Gly89Cys		Q05C43	Missense_Mutation	SNP	NULL	p.G89C	ENST00000371328.3	37	c.265	CCDS33493.1	20	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344543	0.41498	.	.	ENSG00000124103	ENST00000371328	T	0.10192	2.9	4.03	-4.79	0.03200	.	1.211470	0.06204	N	0.683783	T	0.17280	0.0415	L	0.55481	1.735	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.26189	-1.0110	10	0.72032	D	0.01	-0.5797	5.2512	0.15522	0.6499:0.0:0.1932:0.1569	.	89	Q5JX71	CT106_HUMAN	C	89	ENSP00000360379:G89C	ENSP00000360379:G89C	G	+	1	0	C20orf106	54534282	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.785000	0.04628	-1.030000	0.03312	0.411000	0.27672	GGC	FAM209A	-	NULL	ENSG00000124103		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079815.2	-	0.00	30	0	G			55100875	+1	tier1	-	no_errors	ENST00000371328	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
FAM214A	56204	genome.wustl.edu	37	15	52876946	52876946	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:52876946G>T	ENST00000261844.7	-	12	3225	c.3073C>A	c.(3073-3075)Ctg>Atg	p.L1025M	RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.L1032M	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1025								p.L1025M(1)									CATTACCTCAGATGTATGAGG	0.318																																																	1	Substitution - Missense(1)	endometrium(1)											140.0	133.0	135.0					15																	52876946		1835	4082	5917	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3073C>A	15.37:g.52876946G>T	ENSP00000261844:p.Leu1025Met		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.L1025M	ENST00000261844.7	37	c.3073	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761333	0.69763	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.58210	0.35;0.35	5.3	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68224	-0.5465	10	0.87932	D	0	.	11.9443	0.52920	0.1416:0.0:0.8584:0.0	.	1032;1025	F5H8G0;Q32MH5	.;K1370_HUMAN	M	1025;1025;1032	ENSP00000261844:L1025M;ENSP00000443598:L1032M	ENSP00000261844:L1025M	L	-	1	2	KIAA1370	50664238	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	4.583000	0.60964	0.741000	0.32674	0.467000	0.42956	CTG	FAM214A	-	NULL	ENSG00000047346		0.318	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	-	0.00	122	0	G	NM_019600		52876946	-1	tier1	-	no_errors	ENST00000261844	ensembl	human	known	74_37	missense	6.74	83	6	SNP	1.000	T
FAM78A	286336	genome.wustl.edu	37	9	134136473	134136473	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:134136473G>T	ENST00000372271.3	-	2	955	c.588C>A	c.(586-588)acC>acA	p.T196T	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.T193T	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	196										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGAGGTGTTGGTGGCCACCA	0.647																																																	0													102.0	92.0	95.0					9																	134136473		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.588C>A	9.37:g.134136473G>T			Q86VQ9|Q9H7P4	Silent	SNP	NULL	p.T196	ENST00000372271.3	37	c.588	CCDS6941.2	9																																																																																			FAM78A	-	NULL	ENSG00000126882		0.647	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0.00	31	0	G	NM_033387		134136473	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	silent	8.33	33	3	SNP	1.000	T
FCN2	2220	genome.wustl.edu	37	9	137777622	137777622	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:137777622G>T	ENST00000291744.6	+	6	448	c.438G>T	c.(436-438)caG>caT	p.Q146H	FCN2_ENST00000350339.2_Missense_Mutation_p.Q108H	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	146	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.Q146H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGTTTTCCAGCGGAGGGTGG	0.652																																																	1	Substitution - Missense(1)	lung(1)											54.0	55.0	55.0					9																	137777622		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.438G>T	9.37:g.137777622G>T	ENSP00000291744:p.Gln146His		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q146H	ENST00000291744.6	37	c.438	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879739	0.33162	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.30182	1.54;1.54	3.96	3.04	0.35103	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.40222	N	0.001152	T	0.62097	0.2400	H	0.95745	3.715	0.53688	D	0.999978	D;D	0.69078	0.98;0.997	P;D	0.68765	0.852;0.96	T	0.71354	-0.4618	10	0.87932	D	0	.	9.6541	0.39914	0.1107:0.0:0.8893:0.0	.	108;146	Q15485-2;Q15485	.;FCN2_HUMAN	H	108;146	ENSP00000291741:Q108H;ENSP00000291744:Q146H	ENSP00000291744:Q146H	Q	+	3	2	FCN2	136917443	1.000000	0.71417	0.797000	0.32132	0.079000	0.17450	4.383000	0.59600	1.720000	0.51447	0.563000	0.77884	CAG	FCN2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000160339		0.652	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1		0.00	69	0	G	NM_004108		137777622	+1			no_errors	ENST00000291744	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.996	T
FDXACB1	91893	genome.wustl.edu	37	11	111746108	111746108	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:111746108G>T	ENST00000260257.4	-	5	1460	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Silent_p.I322I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	471					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGGCAGATGTGATAACAGACC	0.373																																																	0													67.0	65.0	66.0					11																	111746108		1899	4121	6020	SO:0001819	synonymous_variant	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1413C>A	11.37:g.111746108G>T			A0PJW7|B4DUU2	Silent	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.I471	ENST00000260257.4	37	c.1413	CCDS44729.1	11																																																																																			FDXACB1	-	NULL	ENSG00000255561		0.373	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	0.00	25	0	G	NM_138378		111746108	-1	tier1	-	no_errors	ENST00000260257	ensembl	human	known	74_37	silent	57.14	9	12	SNP	0.064	T
FER	2241	genome.wustl.edu	37	5	108171443	108171443	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:108171443G>T	ENST00000281092.4	+	5	800	c.416G>T	c.(415-417)aGc>aTc	p.S139I	FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.S139I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	139	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTAAAATGCAGCTATAGACAA	0.259																																					Colon(146;1051 1799 9836 27344 47401)												0													43.0	50.0	47.0					5																	108171443		2184	4267	6451	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.416G>T	5.37:g.108171443G>T	ENSP00000281092:p.Ser139Ile		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.S139I	ENST00000281092.4	37	c.416	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890945	0.52014	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.43294	0.95;0.95	5.77	3.98	0.46160	.	0.083588	0.85682	D	0.000000	T	0.32556	0.0833	L	0.39898	1.24	0.80722	D	1	P;P	0.45902	0.651;0.868	B;B	0.37198	0.153;0.243	T	0.12502	-1.0545	10	0.66056	D	0.02	-3.853	12.6658	0.56842	0.1356:0.0:0.8644:0.0	.	139;139	Q6PEJ9;P16591	.;FER_HUMAN	I	139	ENSP00000281092:S139I;ENSP00000442627:S139I	ENSP00000281092:S139I	S	+	2	0	FER	108199342	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.279000	0.43435	0.769000	0.33313	-0.237000	0.12165	AGC	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr	ENSG00000151422		0.259	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	-	0.00	43	0	G	NM_005246		108171443	+1	tier1	-	no_errors	ENST00000281092	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
FKTN	2218	genome.wustl.edu	37	9	108380327	108380327	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:108380327T>C	ENST00000223528.2	+	8	1122	c.998T>C	c.(997-999)tTa>tCa	p.L333S	FKTN_ENST00000602661.1_Missense_Mutation_p.L333S|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Missense_Mutation_p.L333S|FKTN_ENST00000448551.2_Missense_Mutation_p.L333S	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	333					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATATTATTTTAGCATTTCAG	0.333																																																	0													41.0	40.0	40.0					9																	108380327		2203	4299	6502	SO:0001583	missense	0				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.998T>C	9.37:g.108380327T>C	ENSP00000223528:p.Leu333Ser		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom	p.L333S	ENST00000223528.2	37	c.998	CCDS6766.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.929|5.929	0.355516|0.355516	0.11239|0.11239	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000223528;ENST00000357998|ENST00000457847	D;D|.	0.90444|.	-2.39;-2.67|.	6.02|6.02	2.63|2.63	0.31362|0.31362	.|.	0.696087|.	0.14294|.	N|.	0.328723|.	T|.	0.13713|.	0.0332|.	N|N	0.00583|0.00583	-1.355|-1.355	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.06180|.	-1.0841|.	10|.	0.05351|.	T|.	0.99|.	-8.9101|-8.9101	8.3344|8.3344	0.32206|0.32206	0.0:0.7465:0.0:0.2535|0.0:0.7465:0.0:0.2535	.|.	333;333|.	B4DUX9;O75072|.	.;FKTN_HUMAN|.	S|Q	333|30	ENSP00000223528:L333S;ENSP00000350687:L333S|.	ENSP00000223528:L333S|.	L|X	+|+	2|1	0|0	FKTN|FKTN	107420148|107420148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.663000|1.663000	0.37429|0.37429	0.648000|0.648000	0.30732|0.30732	0.528000|0.528000	0.53228|0.53228	TTA|TAG	FKTN	-	pfam_LicD	ENSG00000106692		0.333	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	HGNC	protein_coding	OTTHUMT00000053505.1	-	0.00	34	0	T	NM_006731		108380327	+1	tier1	-	no_errors	ENST00000223528	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	C
FKBP15	23307	genome.wustl.edu	37	9	115928423	115928423	+	Missense_Mutation	SNP	G	G	A	rs372719818		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:115928423G>A	ENST00000238256.3	-	28	3712	c.3595C>T	c.(3595-3597)Cgc>Tgc	p.R1199C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1199					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGGGGCGGGCGTCCCTTCATG	0.512																																																	0								G	CYS/ARG	1,4001		0,1,2000	52.0	55.0	54.0		3595	5.7	1.0	9		54	0,8350		0,0,4175	no	missense	FKBP15	NM_015258.1	180	0,1,6175	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	1199/1220	115928423	1,12351	2001	4175	6176	SO:0001583	missense	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3595C>T	9.37:g.115928423G>A	ENSP00000238256:p.Arg1199Cys		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.R1199C	ENST00000238256.3	37	c.3595	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443246	0.63067	2.5E-4	0.0	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.30572	0.0769	L	0.51422	1.61	0.47476	D	0.999435	B;B	0.32893	0.389;0.113	B;B	0.24269	0.052;0.013	T	0.15037	-1.0451	9	0.87932	D	0	-0.8148	10.7144	0.46005	0.0861:0.0:0.9139:0.0	.	780;1199	B4DVS2;Q5T1M5	.;FKB15_HUMAN	C	1224;1199	ENSP00000416158:R1224C;ENSP00000238256:R1199C	ENSP00000238256:R1199C	R	-	1	0	FKBP15	114968244	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.431000	0.52814	2.687000	0.91594	0.563000	0.77884	CGC	FKBP15	-	NULL	ENSG00000119321		0.512	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		-	0.00	55	0	G	NM_015258		115928423	-1	tier1	-	no_errors	ENST00000238256	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A
FLT3	2322	genome.wustl.edu	37	13	28623855	28623855	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:28623855G>T	ENST00000241453.7	-	7	880	c.799C>A	c.(799-801)Ccc>Acc	p.P267T	FLT3_ENST00000537084.1_Missense_Mutation_p.P267T|FLT3_ENST00000380982.4_Missense_Mutation_p.P267T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	267	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCATAAGGGTTCCCCTACT	0.398			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													121.0	113.0	116.0					13																	28623855		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.799C>A	13.37:g.28623855G>T	ENSP00000241453:p.Pro267Thr		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P267T	ENST00000241453.7	37	c.799	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128141	0.77549	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.16597	2.33;2.33;2.33	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.28599	0.0708	L	0.27053	0.805	0.47123	D	0.999322	D;D	0.76494	0.987;0.999	P;D	0.70935	0.801;0.971	T	0.01492	-1.1341	10	0.19147	T	0.46	.	18.4627	0.90745	0.0:0.0:1.0:0.0	.	267;267	P36888-2;P36888	.;FLT3_HUMAN	T	267	ENSP00000241453:P267T;ENSP00000370369:P267T;ENSP00000438139:P267T	ENSP00000241453:P267T	P	-	1	0	FLT3	27521855	1.000000	0.71417	0.902000	0.35471	0.918000	0.54935	6.013000	0.70776	2.873000	0.98535	0.561000	0.74099	CCC	FLT3	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000122025		0.398	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0.00	26	0	G			28623855	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.974	T
FMN2	56776	genome.wustl.edu	37	1	240555817	240555817	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:240555817T>G	ENST00000319653.9	+	15	5095	c.4865T>G	c.(4864-4866)aTt>aGt	p.I1622S	FMN2_ENST00000545751.1_Missense_Mutation_p.I218S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1622	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGCCAAAATTGACCAAGAG	0.333																																																	0													116.0	124.0	122.0					1																	240555817		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4865T>G	1.37:g.240555817T>G	ENSP00000318884:p.Ile1622Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.I1622S	ENST00000319653.9	37	c.4865	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	2.937	-0.219726	0.06061	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.15834	2.39;2.39	5.47	4.35	0.52113	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.103901	0.39687	N	0.001291	T	0.12603	0.0306	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.20671	0.003;0.025;0.01;0.047	B;B;B;B	0.19391	0.006;0.025;0.014;0.023	T	0.08994	-1.0695	10	0.12103	T	0.63	.	8.8374	0.35119	0.0:0.0853:0.0:0.9147	.	218;237;251;1622	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	S	1622;218;249;98	ENSP00000318884:I1622S;ENSP00000437918:I218S	ENSP00000318884:I1622S	I	+	2	0	FMN2	238622440	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.411000	0.59781	0.922000	0.37019	0.528000	0.53228	ATT	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.333	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	47	0	T	XM_371352		240555817	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	G
FOXD4L3	286380	genome.wustl.edu	37	9	70918542	70918542	+	Missense_Mutation	SNP	C	C	G	rs10781365		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:70918542C>G	ENST00000342833.2	+	1	1267	c.675C>G	c.(673-675)caC>caG	p.H225Q		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	225						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CTGCTGCACACGCCGCCCTGC	0.716																																																	0													1.0	1.0	1.0					9																	70918542		37	107	144	SO:0001583	missense	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.675C>G	9.37:g.70918542C>G	ENSP00000341961:p.His225Gln		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H225Q	ENST00000342833.2	37	c.675	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149614	0.01714	.	.	ENSG00000187559	ENST00000342833	D	0.94000	-3.33	3.35	1.2	0.21068	.	.	.	.	.	D	0.84606	0.5509	N	0.24115	0.695	0.09310	N	1	B	0.23854	0.092	B	0.21708	0.036	T	0.71537	-0.4563	9	0.25751	T	0.34	.	3.502	0.07676	0.0:0.528:0.2143:0.2577	.	225	Q6VB84	FX4L3_HUMAN	Q	225	ENSP00000341961:H225Q	ENSP00000341961:H225Q	H	+	3	2	FOXD4L3	70108362	0.000000	0.05858	0.025000	0.17156	0.032000	0.12392	-1.186000	0.03070	0.508000	0.28173	-0.680000	0.03767	CAC	FOXD4L3	-	NULL	ENSG00000187559		0.716	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	-	0.00	9	0	C	NM_199358		70918542	+1	tier1	-	no_errors	ENST00000342833	ensembl	human	known	74_37	missense	80.00	1	4	SNP	0.009	G
FRYL	285527	genome.wustl.edu	37	4	48567034	48567034	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:48567034G>T	ENST00000503238.1	-	27	3356	c.3357C>A	c.(3355-3357)ggC>ggA	p.G1119G	FRYL_ENST00000537810.1_Silent_p.G1119G|FRYL_ENST00000358350.4_Silent_p.G1119G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.G1119G			O94915	FRYL_HUMAN	FRY-like	1119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCAACAGGGCCACAACACA	0.333																																																	0													107.0	101.0	103.0					4																	48567034		1892	4123	6015	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3357C>A	4.37:g.48567034G>T			O95640|Q8WTZ5|Q9NT40	Silent	SNP	superfamily_ARM-type_fold	p.G1119	ENST00000503238.1	37	c.3357	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0.00	40	0	G			48567034	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T
FTH1P3	2498	genome.wustl.edu	37	5	17354522	17354522	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:17354522G>A	ENST00000511821.1	+	0	381				FTH1P10_ENST00000401830.3_RNA																							TGAGGTGGACGCGGTCGTCAT	0.672																																																	0																																												0																															5.37:g.17354522G>A				RNA	SNP	-	NULL	ENST00000511821.1	37	NULL		5																																																																																			FTH1P10	-	-	ENSG00000223361		0.672	CTD-2139B15.2-001	KNOWN	basic	lincRNA	FTH1P10	HGNC	lincRNA	OTTHUMT00000366261.1	-	0.00	86	0	G			17354522	-1	tier1	-	no_errors	ENST00000401830	ensembl	human	known	74_37	rna	13.04	40	6	SNP	0.008	A
FZD6	8323	genome.wustl.edu	37	8	104336798	104336798	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:104336798G>T	ENST00000358755.4	+	4	781	c.464G>T	c.(463-465)aGa>aTa	p.R155I	FZD6_ENST00000523739.1_Missense_Mutation_p.R123I|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.R155I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	155					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGTCCAAAGAGACATTGGA	0.423																																																	0													66.0	72.0	70.0					8																	104336798		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.464G>T	8.37:g.104336798G>T	ENSP00000351605:p.Arg155Ile		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R155I	ENST00000358755.4	37	c.464	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537827	0.85917	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.78003	-1.11;-1.11;-1.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.64170	1.965	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;P;D	0.63793	0.899;0.905;0.918	T	0.82792	-0.0282	10	0.31617	T	0.26	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	100;155;155	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	I	155;155;123;100	ENSP00000429055:R155I;ENSP00000351605:R155I;ENSP00000429528:R123I	ENSP00000351605:R155I	R	+	2	0	FZD6	104405974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.745000	0.94114	0.491000	0.48974	AGA	FZD6	-	NULL	ENSG00000164930		0.423	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	-	0.00	56	0	G	NM_003506		104336798	+1	tier1	-	no_errors	ENST00000358755	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
G2E3	55632	genome.wustl.edu	37	14	31058620	31058622	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:31058620_31058622delAAG	ENST00000206595.6	+	4	321_323	c.167_169delAAG	c.(166-171)aaagaa>aaa	p.E59del	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_In_Frame_Del_p.E13del|G2E3_ENST00000553504.1_In_Frame_Del_p.E89del	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	59					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K56fs*18(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGAGAGGCAAAGAAGAAGAAGG	0.296																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001651	inframe_deletion	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.167_169delAAG	14.37:g.31058629_31058631delAAG	ENSP00000206595:p.Glu59del		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	In_Frame_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.E59in_frame_del	ENST00000206595.6	37	c.167_169	CCDS9638.1	14																																																																																			G2E3	-	NULL	ENSG00000092140		0.296	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0.00	43	0	AAG	NM_017769		31058622	+1	tier1		no_errors	ENST00000206595	ensembl	human	known	74_37	in_frame_del	5.13	37	2	DEL	1.000:1.000:1.000	-
GABRA4	2557	genome.wustl.edu	37	4	46930343	46930343	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:46930343C>A	ENST00000264318.3	-	9	2546	c.1564G>T	c.(1564-1566)Gcc>Tcc	p.A522S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	522					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAATACGGGCATATTTGTCT	0.418																																					Ovarian(6;283 369 8234 12290 33402)												0													116.0	114.0	115.0					4																	46930343		2203	4300	6503	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1564G>T	4.37:g.46930343C>A	ENSP00000264318:p.Ala522Ser		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A522S	ENST00000264318.3	37	c.1564	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454334	0.26161	.	.	ENSG00000109158	ENST00000264318	D	0.84516	-1.86	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	N	0.20986	0.625	0.47009	D	0.999286	P	0.39443	0.674	B	0.41860	0.368	T	0.74500	-0.3645	10	0.02654	T	1	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	522	P48169	GBRA4_HUMAN	S	522	ENSP00000264318:A522S	ENSP00000264318:A522S	A	-	1	0	GABRA4	46625100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.623000	0.61247	2.765000	0.95021	0.650000	0.86243	GCC	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.418	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	-	0.00	48	0	C			46930343	-1	tier1	-	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A
GALNT16	57452	genome.wustl.edu	37	14	69795244	69795244	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:69795244G>T	ENST00000337827.4	+	6	973	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	GALNT16_ENST00000448469.3_Missense_Mutation_p.V216L|GALNT16_ENST00000553669.1_Missense_Mutation_p.V216L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	216	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCACTGCGAAGTGAACACCGA	0.627																																																	0													93.0	88.0	90.0					14																	69795244		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.646G>T	14.37:g.69795244G>T	ENSP00000336729:p.Val216Leu		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V216L	ENST00000337827.4	37	c.646	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.139665	0.94560	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.57595	0.39;0.39;0.39	5.59	5.59	0.84812	Glycosyl transferase, family 2 (1);	0.116173	0.64402	D	0.000018	T	0.74764	0.3759	M	0.82433	2.59	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64321	0.924;0.924	T	0.78319	-0.2250	10	0.87932	D	0	.	19.191	0.93666	0.0:0.0:1.0:0.0	.	216;216	Q8N428;Q58A55	GLTL1_HUMAN;.	L	216	ENSP00000336729:V216L;ENSP00000402970:V216L;ENSP00000451200:V216L	ENSP00000336729:V216L	V	+	1	0	GALNTL1	68864997	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.167000	0.77562	2.636000	0.89361	0.563000	0.77884	GTG	GALNT16	-	pfam_Glyco_trans_2	ENSG00000100626		0.627	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0.00	96	0	G	NM_001168368		69795244	+1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
GBF1	8729	genome.wustl.edu	37	10	104128195	104128195	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:104128195G>T	ENST00000369983.3	+	22	3120	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	954					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCCAGAAAGCCATCTCAGG	0.502																																																	0													93.0	88.0	90.0					10																	104128195		2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2860G>T	10.37:g.104128195G>T	ENSP00000359000:p.Ala954Ser		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.A954S	ENST00000369983.3	37	c.2860	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380254	0.42207	.	.	ENSG00000107862	ENST00000369983	T	0.73789	-0.78	5.49	4.56	0.56223	.	0.134493	0.64402	N	0.000002	T	0.66277	0.2773	L	0.42581	1.335	0.80722	D	1	P;P;B	0.48230	0.907;0.533;0.003	B;B;B	0.38500	0.275;0.076;0.003	T	0.69117	-0.5230	10	0.45353	T	0.12	-11.2156	15.2275	0.73361	0.0:0.0:0.8425:0.1575	.	954;954;954	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	954	ENSP00000359000:A954S	ENSP00000359000:A954S	A	+	1	0	GBF1	104118185	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.575000	0.82447	1.473000	0.48159	0.655000	0.94253	GCC	GBF1	-	NULL	ENSG00000107862		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0.00	58	0	G			104128195	+1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
GDF5	8200	genome.wustl.edu	37	20	34025306	34025306	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:34025306G>T	ENST00000374372.1	-	3	906	c.403C>A	c.(403-405)Cca>Aca	p.P135T	GDF5_ENST00000374369.3_Missense_Mutation_p.P135T			P43026	GDF5_HUMAN	growth differentiation factor 5	135					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGCTTTTGGGGGTGCCTTG	0.662																																																	0													55.0	61.0	59.0					20																	34025306		2203	4300	6503	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.403C>A	20.37:g.34025306G>T	ENSP00000363492:p.Pro135Thr		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P135T	ENST00000374372.1	37	c.403	CCDS13254.1	20	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230188	0.00280	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.78246	-1.16;-1.16	4.39	1.29	0.21616	.	1.197820	0.05972	N	0.642581	T	0.54351	0.1853	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38243	-0.9670	10	0.08837	T	0.75	.	2.003	0.03471	0.2365:0.134:0.4918:0.1377	.	135;135	F1T0J1;P43026	.;GDF5_HUMAN	T	135	ENSP00000363489:P135T;ENSP00000363492:P135T	ENSP00000363489:P135T	P	-	1	0	GDF5	33488720	0.973000	0.33851	0.917000	0.36280	0.662000	0.39071	1.141000	0.31528	0.114000	0.18032	0.313000	0.20887	CCA	GDF5	-	NULL	ENSG00000125965		0.662	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2		0.00	30	0	G			34025306	-1			no_errors	ENST00000374369	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.308	T
GJA1	2697	genome.wustl.edu	37	6	121768889	121768889	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:121768889G>A	ENST00000282561.3	+	2	1053	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	299					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCTTGCCGCAATTACAAC	0.502																																																	0													74.0	74.0	74.0					6																	121768889		2203	4300	6503	SO:0001583	missense	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.896G>A	6.37:g.121768889G>A	ENSP00000282561:p.Arg299His		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.R299H	ENST00000282561.3	37	c.896	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681938	0.47991	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.82167	-1.58	5.08	5.08	0.68730	Gap junction alpha-1 protein (Cx43), C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.78432	0.4282	N	0.14661	0.345	0.58432	D	0.999999	D	0.64830	0.994	P	0.60415	0.874	T	0.80034	-0.1551	10	0.39692	T	0.17	.	18.6704	0.91508	0.0:0.0:1.0:0.0	.	299	P17302	CXA1_HUMAN	H	283;299	ENSP00000282561:R299H	ENSP00000282561:R299H	R	+	2	0	GJA1	121810588	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.335000	0.79234	2.638000	0.89438	0.585000	0.79938	CGC	GJA1	-	pfam_Connexin43_C,prints_Connexin43	ENSG00000152661		0.502	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	-	0.00	83	0	G	NM_000165		121768889	+1	tier1	-	no_errors	ENST00000282561	ensembl	human	known	74_37	missense	41.86	50	36	SNP	1.000	A
GLDN	342035	genome.wustl.edu	37	15	51696856	51696856	+	Missense_Mutation	SNP	G	G	T	rs75780940	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:51696856G>T	ENST00000335449.6	+	10	1617	c.1561G>T	c.(1561-1563)Gca>Tca	p.A521S	GLDN_ENST00000396399.2_Missense_Mutation_p.A397S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	521	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A521T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGCCATGTTAGCATACAACAT	0.378																																																	1	Substitution - Missense(1)	stomach(1)											142.0	140.0	141.0					15																	51696856		2196	4293	6489	SO:0001583	missense	0			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1561G>T	15.37:g.51696856G>T	ENSP00000335196:p.Ala521Ser		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.A521S	ENST00000335449.6	37	c.1561	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285343	0.05605	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88354	-2.37;-2.37	5.8	-0.743	0.11105	Olfactomedin-like (3);	0.678590	0.12143	N	0.495718	T	0.63058	0.2479	N	0.00621	-1.32	0.25321	N	0.989115	B	0.12630	0.006	B	0.10450	0.005	T	0.57458	-0.7808	10	0.02654	T	1	.	11.1477	0.48440	0.0912:0.0:0.4588:0.45	.	521	Q6ZMI3	GLDN_HUMAN	S	521;397;397	ENSP00000335196:A521S;ENSP00000379681:A397S	ENSP00000335196:A521S	A	+	1	0	GLDN	49484148	0.996000	0.38824	0.623000	0.29173	0.956000	0.61745	2.591000	0.46163	0.115000	0.18071	-0.457000	0.05445	GCA	GLDN	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000186417		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2		0.00	48	0	G	NM_181789		51696856	+1			no_errors	ENST00000335449	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.668	T
GLCE	26035	genome.wustl.edu	37	15	69548267	69548267	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:69548267G>T	ENST00000261858.2	+	3	350	c.122G>T	c.(121-123)cGg>cTg	p.R41L	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	41					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGTTTCCACGGCGTTCGAGT	0.433																																																	0													107.0	102.0	104.0					15																	69548267		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.122G>T	15.37:g.69548267G>T	ENSP00000261858:p.Arg41Leu		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R41L	ENST00000261858.2	37	c.122	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344122	0.41498	.	.	ENSG00000138604	ENST00000261858	T	0.31510	1.49	5.51	5.51	0.81932	.	0.116625	0.64402	D	0.000015	T	0.26666	0.0652	L	0.47716	1.5	0.43183	D	0.995003	B	0.26258	0.145	B	0.26517	0.07	T	0.07252	-1.0782	10	0.02654	T	1	-27.7753	17.2728	0.87107	0.0:0.0:1.0:0.0	.	41	O94923	GLCE_HUMAN	L	41	ENSP00000261858:R41L	ENSP00000261858:R41L	R	+	2	0	GLCE	67335321	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.863000	0.62983	2.738000	0.93877	0.655000	0.94253	CGG	GLCE	-	NULL	ENSG00000138604		0.433	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding			0.00	78	0	G	NM_015554		69548267	+1			no_errors	ENST00000261858	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.981	T
GLT6D1	360203	genome.wustl.edu	37	9	138516139	138516139	+	Missense_Mutation	SNP	G	G	T	rs370842340		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:138516139G>T	ENST00000371763.1	-	5	888	c.635C>A	c.(634-636)cCg>cAg	p.P212Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	212					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.P212L(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGCTGAGGTCGGCCTCCTCTC	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											94.0	93.0	94.0					9																	138516139		1925	4133	6058	SO:0001583	missense	0			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.635C>A	9.37:g.138516139G>T	ENSP00000360829:p.Pro212Gln			Missense_Mutation	SNP	pfam_Glyco_trans_6	p.P212Q	ENST00000371763.1	37	c.635	CCDS43900.1	9	.	.	.	.	.	.	.	.	.	.	g	9.930	1.214669	0.22289	.	.	ENSG00000204007	ENST00000371763	T	0.01215	5.16	3.49	-5.05	0.02955	.	2.109200	0.01764	N	0.030728	T	0.03011	0.0089	M	0.67569	2.06	0.09310	N	1	D	0.57257	0.979	P	0.58520	0.84	T	0.41538	-0.9503	10	0.36615	T	0.2	-0.1733	0.6542	0.00832	0.243:0.2277:0.3235:0.2058	.	212	Q7Z4J2	GL6D1_HUMAN	Q	212	ENSP00000360829:P212Q	ENSP00000360829:P212Q	P	-	2	0	GLT6D1	137655960	0.100000	0.21855	0.000000	0.03702	0.000000	0.00434	0.580000	0.23803	-1.232000	0.02554	-0.808000	0.03180	CCG	GLT6D1	-	pfam_Glyco_trans_6	ENSG00000204007		0.512	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT6D1	HGNC	protein_coding	OTTHUMT00000055005.2		0.00	39	0	G	NM_182974		138516139	-1			no_errors	ENST00000371763	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	T
GMEB1	10691	genome.wustl.edu	37	1	29041386	29041386	+	IGR	DEL	A	A	-	rs528044464	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:29041386delA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						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)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTTTTTAAAAAAAAAAA	0.343																																																	0																																										SO:0001628	intergenic_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647		1.37:g.29041386delA			B1AT48|Q9NWH1|Q9UKD0	RNA	DEL	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.343	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	11	0	A	NM_006582		29041386	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.252	-
GMPS	8833	genome.wustl.edu	37	3	155611380	155611380	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:155611380G>T	ENST00000496455.2	+	2	436	c.101G>T	c.(100-102)gGt>gTt	p.G34V	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	34	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTGGATGCTGGTGCTCAGTAC	0.453			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													97.0	96.0	97.0					3																	155611380		1984	4168	6152	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.101G>T	3.37:g.155611380G>T	ENSP00000419851:p.Gly34Val		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.G34V	ENST00000496455.2	37	c.101	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.291946	0.95546	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.90955	-2.76	5.93	5.93	0.95920	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98572	1.0646	10	0.87932	D	0	-17.6148	20.334	0.98729	0.0:0.0:1.0:0.0	.	34	P49915	GUAA_HUMAN	V	34	ENSP00000419851:G34V	ENSP00000419851:G34V	G	+	2	0	GMPS	157094074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.808000	0.96608	0.551000	0.68910	GGT	GMPS	-	pfam_GATASE,tigrfam_GMP_synth_N	ENSG00000163655		0.453	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2		0.00	67	0	G			155611380	+1			no_errors	ENST00000496455	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T
GOLGA2	2801	genome.wustl.edu	37	9	131036245	131036245	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:131036245C>T	ENST00000421699.2	-	2	103	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SWI5_ENST00000320188.5_5'Flank|SWI5_ENST00000608796.1_5'Flank|GOLGA2_ENST00000609374.1_Missense_Mutation_p.E19K|SWI5_ENST00000495313.1_5'Flank|GOLGA2_ENST00000490628.1_Missense_Mutation_p.E31K|SWI5_ENST00000419867.2_5'Flank|SWI5_ENST00000418976.1_5'Flank	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	31					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCTGATATTCTCTCAACTGT	0.388																																																	0													155.0	169.0	164.0					9																	131036245		2203	4300	6503	SO:0001583	missense	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.91G>A	9.37:g.131036245C>T	ENSP00000416097:p.Glu31Lys		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.E31K	ENST00000421699.2	37	c.91	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419665	0.42918	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.52983	0.64;0.64	5.06	5.06	0.68205	.	0.131917	0.49305	D	0.000150	T	0.71384	0.3333	M	0.83953	2.67	0.49483	D	0.999798	D	0.71674	0.998	D	0.66979	0.948	T	0.77059	-0.2728	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	31	Q08379	GOGA2_HUMAN	K	31	ENSP00000416097:E31K;ENSP00000409271:E31K	ENSP00000416097:E31K	E	-	1	0	GOLGA2	130076066	1.000000	0.71417	0.016000	0.15963	0.064000	0.16182	6.116000	0.71571	2.341000	0.79615	0.467000	0.42956	GAA	GOLGA2	-	NULL	ENSG00000167110		0.388	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0.00	84	0	C	NM_004486		131036245	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	missense	45.28	29	24	SNP	0.999	T
GP1BB	2812	genome.wustl.edu	37	22	19711098	19711098	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:19711098C>T	ENST00000366425.3	+	1	631	c.6C>T	c.(4-6)ggC>ggT	p.G2G		NM_000407.4	NP_000398.1	P13224	GP1BB_HUMAN	glycoprotein Ib (platelet), beta polypeptide	2					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)					Colorectal(54;0.0993)					TCGCCATGGGCTCCGGTGAGT	0.711																																																	0													11.0	14.0	13.0					22																	19711098		1844	4080	5924	SO:0001819	synonymous_variant	0				CCDS42980.1	22q11.21-q11.23	2014-09-17			ENSG00000203618	ENSG00000203618		"""CD molecules"""	4440	protein-coding gene	gene with protein product		138720				3422424	Standard	NM_000407		Approved	CD42c		P13224	OTTHUMG00000150397	ENST00000366425.3:c.6C>T	22.37:g.19711098C>T			Q14422|Q8NG40	Silent	SNP	pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C	p.G2	ENST00000366425.3	37	c.6	CCDS42980.1	22	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362941	0.24684	.	.	ENSG00000203618	ENST00000535794	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64892	-0.6300	5	0.87932	D	0	-2.2502	6.3593	0.21419	0.0:0.8649:0.0:0.1351	.	.	.	.	V	114	.	ENSP00000439879:A114V	A	+	2	0	GP1BB	18091098	0.995000	0.38212	1.000000	0.80357	0.570000	0.35934	1.743000	0.38258	2.031000	0.59945	0.462000	0.41574	GCT	GP1BB	-	NULL	ENSG00000203618		0.711	GP1BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BB	HGNC	protein_coding	OTTHUMT00000318195.1	-	0.00	15	0	C			19711098	+1	tier1	-	no_errors	ENST00000366425	ensembl	human	known	74_37	silent	70.00	3	7	SNP	0.998	T
GPR64	10149	genome.wustl.edu	37	X	19027872	19027872	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:19027872G>T	ENST00000379869.3	-	18	1457	c.1294C>A	c.(1294-1296)Cta>Ata	p.L432I	GPR64_ENST00000357991.3_Missense_Mutation_p.L429I|GPR64_ENST00000360279.4_Missense_Mutation_p.L410I|GPR64_ENST00000379873.2_Missense_Mutation_p.L432I|GPR64_ENST00000354791.3_Missense_Mutation_p.L416I|GPR64_ENST00000357544.3_Missense_Mutation_p.L402I|GPR64_ENST00000379876.1_Missense_Mutation_p.L408I|GPR64_ENST00000356606.4_Missense_Mutation_p.L418I|GPR64_ENST00000379878.3_Missense_Mutation_p.L416I|GPR64_ENST00000340581.3_Missense_Mutation_p.L402I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	432					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTCAGCTGTAGGCCAATGTCA	0.398																																																	0													130.0	110.0	117.0					X																	19027872		2203	4300	6503	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1294C>A	X.37:g.19027872G>T	ENSP00000369198:p.Leu432Ile		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L432I	ENST00000379869.3	37	c.1294	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693200	0.48202	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.39997	1.28;1.39;1.39;1.4;1.4;1.42;1.4;1.43;1.42;1.05	6.17	5.02	0.67125	.	0.152620	0.30742	N	0.008962	T	0.57710	0.2072	M	0.74258	2.255	0.38176	D	0.939474	D;P;D;P;P;D;D;D;D;B;D	0.69078	0.982;0.911;0.997;0.562;0.562;0.997;0.997;0.997;0.997;0.427;0.995	P;P;D;P;P;D;D;D;D;B;D	0.69142	0.583;0.821;0.962;0.639;0.639;0.962;0.962;0.962;0.962;0.436;0.917	T	0.59825	-0.7381	10	0.22109	T	0.4	.	8.2848	0.31922	0.8452:0.0:0.1548:0.0	.	402;394;402;408;416;432;410;418;429;432;416	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	432;416;416;408;402;432;410;429;418;402	ENSP00000369202:L432I;ENSP00000369207:L416I;ENSP00000346845:L416I;ENSP00000369205:L408I;ENSP00000350152:L402I;ENSP00000369198:L432I;ENSP00000353421:L410I;ENSP00000350680:L429I;ENSP00000349015:L418I;ENSP00000344972:L402I	ENSP00000344972:L402I	L	-	1	2	GPR64	18937793	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.110000	0.31147	0.934000	0.37316	-0.340000	0.08031	CTA	GPR64	-	NULL	ENSG00000173698		0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	-	0.00	53	0	G			19027872	-1	tier1	-	no_errors	ENST00000379869	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
GPR85	54329	genome.wustl.edu	37	7	112723818	112723818	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:112723818A>T	ENST00000297146.3	-	3	1562	c.959T>A	c.(958-960)tTt>tAt	p.F320Y	GPR85_ENST00000449591.1_Missense_Mutation_p.F320Y|GPR85_ENST00000424100.1_Missense_Mutation_p.F320Y|GPR85_ENST00000501255.2_Missense_Mutation_p.F320Y|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGCTGTTAGAAATCCCCCTGG	0.473																																																	0													54.0	57.0	56.0					7																	112723818		2203	4300	6503	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.959T>A	7.37:g.112723818A>T	ENSP00000297146:p.Phe320Tyr		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F320Y	ENST00000297146.3	37	c.959	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	A	0.270	-0.993620	0.02145	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.116274	0.64402	N	0.000011	T	0.10252	0.0251	N	0.00289	-1.7	0.50171	D	0.999851	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	10	0.11182	T	0.66	.	14.9933	0.71406	1.0:0.0:0.0:0.0	.	320	P60893	GPR85_HUMAN	Y	320	ENSP00000445808:F320Y;ENSP00000297146:F320Y;ENSP00000396763:F320Y;ENSP00000401178:F320Y	ENSP00000297146:F320Y	F	-	2	0	GPR85	112511054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.749000	0.74883	2.195000	0.70347	0.477000	0.44152	TTT	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164604		0.473	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	-	0.00	57	0	A			112723818	-1	tier1	-	no_errors	ENST00000297146	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90072353	90072353	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:90072353G>T	ENST00000405460.2	+	61	12583	c.12487G>T	c.(12487-12489)Ggg>Tgg	p.G4163W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4163	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATCCTCATTGGGGAACCCTC	0.393																																																	0													115.0	114.0	115.0					5																	90072353		1902	4131	6033	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12487G>T	5.37:g.90072353G>T	ENSP00000384582:p.Gly4163Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G4163W	ENST00000405460.2	37	c.12487	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264365	0.59431	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32272	1.46	5.13	5.13	0.70059	.	0.143619	0.64402	D	0.000007	T	0.55893	0.1949	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58674	-0.7595	10	0.72032	D	0.01	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	4163	Q8WXG9	GPR98_HUMAN	W	4163	ENSP00000384582:G4163W	ENSP00000296619:G4163W	G	+	1	0	GPR98	90108109	1.000000	0.71417	0.870000	0.34147	0.182000	0.23217	8.531000	0.90610	2.541000	0.85698	0.637000	0.83480	GGG	GPR98	-	NULL	ENSG00000164199		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	86	0	G	NM_032119		90072353	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.999	T
GPRC6A	222545	genome.wustl.edu	37	6	117127866	117127866	+	Silent	SNP	G	G	T	rs139954647		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:117127866G>T	ENST00000310357.3	-	3	1023	c.1002C>A	c.(1000-1002)tcC>tcA	p.S334S	GPRC6A_ENST00000368549.3_Silent_p.S334S|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	334					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S334S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATGGAAAGAGGATATATTCC	0.398																																																	1	Substitution - coding silent(1)	skin(1)											105.0	100.0	102.0					6																	117127866		2203	4300	6503	SO:0001819	synonymous_variant	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1002C>A	6.37:g.117127866G>T			Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.S334	ENST00000310357.3	37	c.1002	CCDS5112.1	6																																																																																			GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_vmron_rcpt_2	ENSG00000173612		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2		0.00	37	0	G			117127866	-1			no_errors	ENST00000310357	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.899	T
GRIK1	2897	genome.wustl.edu	37	21	31066310	31066310	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:31066310C>T	ENST00000399907.1	-	2	602	c.191G>A	c.(190-192)aGc>aAc	p.S64N	GRIK1_ENST00000535441.1_Missense_Mutation_p.S64N|GRIK1_ENST00000327783.4_Missense_Mutation_p.S64N|GRIK1_ENST00000399913.1_Missense_Mutation_p.S64N|GRIK1_ENST00000399909.1_Missense_Mutation_p.S64N|GRIK1_ENST00000399914.1_Missense_Mutation_p.S64N|GRIK1_ENST00000309434.7_Missense_Mutation_p.S64N|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.S64N|GRIK1_ENST00000389125.3_Missense_Mutation_p.S64N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	64					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCTGTTAATGCTGGTGACTGC	0.408																																																	0													164.0	151.0	155.0					21																	31066310		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.191G>A	21.37:g.31066310C>T	ENSP00000382791:p.Ser64Asn		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S64N	ENST00000399907.1	37	c.191	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	8.726	0.915456	0.17907	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.13	3.13	0.36017	Extracellular ligand-binding receptor (1);	0.120199	0.64402	N	0.000001	T	0.53546	0.1803	N	0.01705	-0.755	0.32431	N	0.548005	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.46162	-0.9211	10	0.22109	T	0.4	.	2.277	0.04104	0.0:0.3349:0.2987:0.3664	.	64;64;64;64	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	N	64	ENSP00000327687:S64N;ENSP00000373777:S64N;ENSP00000382797:S64N;ENSP00000382798:S64N;ENSP00000446326:S64N;ENSP00000373776:S64N;ENSP00000382791:S64N;ENSP00000382793:S64N;ENSP00000311646:S64N	ENSP00000311646:S64N	S	-	2	0	GRIK1	29988181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.095000	0.50235	0.653000	0.30826	0.655000	0.94253	AGC	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	48	0	C			31066310	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
GRIK2	2898	genome.wustl.edu	37	6	101847171	101847171	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:101847171G>A	ENST00000421544.1	+	1	508	c.18G>A	c.(16-18)ccG>ccA	p.P6P	GRIK2_ENST00000358361.3_Silent_p.P6P|GRIK2_ENST00000369138.1_Silent_p.P6P|GRIK2_ENST00000318991.6_Silent_p.P6P|GRIK2_ENST00000369137.3_Silent_p.P6P|GRIK2_ENST00000413795.1_Silent_p.P6P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	6					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTATTTTCCCGATTCTAAGTA	0.478																																																	0													151.0	136.0	141.0					6																	101847171		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.18G>A	6.37:g.101847171G>A			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P6	ENST00000421544.1	37	c.18	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0.00	27	0	G			101847171	+1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.999	A
GRK5	2869	genome.wustl.edu	37	10	121207692	121207692	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:121207692G>A	ENST00000392870.2	+	13	1653	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	GRK5_ENST00000369108.3_Missense_Mutation_p.V337I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGCTGCAGAGGTCAAGAGACA	0.602																																																	0													122.0	130.0	127.0					10																	121207692		2203	4300	6503	SO:0001583	missense	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1324G>A	10.37:g.121207692G>A	ENSP00000376609:p.Val442Ile		D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.V442I	ENST00000392870.2	37	c.1324	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	g	16.63	3.178022	0.57692	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.50001	0.76;0.76	4.11	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.570657	0.14972	N	0.287769	T	0.30135	0.0755	N	0.04686	-0.185	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.20767	0.022;0.031	T	0.08207	-1.0733	10	0.27785	T	0.31	-22.1927	16.5366	0.84374	0.0:0.0:1.0:0.0	.	442;442	B2R7K0;P34947	.;GRK5_HUMAN	I	442;185;337	ENSP00000376609:V442I;ENSP00000358104:V337I	ENSP00000358104:V337I	V	+	1	0	GRK5	121197682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.758000	0.85224	2.086000	0.62901	0.655000	0.94253	GTC	GRK5	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000198873		0.602	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	-	0.00	80	0	G	NM_005308		121207692	+1	tier1	-	no_errors	ENST00000392870	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	A
GSTK1	373156	genome.wustl.edu	37	7	142964732	142964732	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:142964732C>G	ENST00000358406.5	+	6	514	c.443C>G	c.(442-444)tCt>tGt	p.S148C	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.S105C|GSTK1_ENST00000479303.1_Missense_Mutation_p.S204C|GSTK1_ENST00000409500.3_Missense_Mutation_p.S136C	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	148					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GCTGGTATGTCTGCAGAACAA	0.498																																																	0													122.0	115.0	118.0					7																	142964732		2203	4300	6503	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.443C>G	7.37:g.142964732C>G	ENSP00000351181:p.Ser148Cys		B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.S204C	ENST00000358406.5	37	c.611	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241056	0.79912	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.28	5.28	0.74379	Protein disulphide isomerase, central domain (1);DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.279722	0.42053	D	0.000779	T	0.72558	0.3475	M	0.87547	2.89	0.20926	N	0.999826	D;D;D;P	0.69078	0.997;0.972;0.995;0.859	P;P;P;P	0.58013	0.792;0.745;0.831;0.544	T	0.69720	-0.5069	9	0.66056	D	0.02	-4.7908	16.4759	0.84132	0.0:1.0:0.0:0.0	.	136;105;204;148	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	C	136;105;148;204	.	ENSP00000351181:S148C	S	+	2	0	GSTK1	142674854	0.782000	0.28689	0.031000	0.17742	0.487000	0.33371	2.847000	0.48270	2.494000	0.84150	0.549000	0.68633	TCT	GSTK1	-	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	ENSG00000197448		0.498	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	-	0.00	45	0	C	NM_015917		142964732	+1	tier1	-	no_errors	ENST00000479303	ensembl	human	known	74_37	missense	39.74	47	31	SNP	0.074	G
GZMK	3003	genome.wustl.edu	37	5	54327361	54327361	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:54327361G>A	ENST00000231009.2	+	4	603	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTCCTAAGTCGAAAACTTTGC	0.483																																																	0													87.0	84.0	85.0					5																	54327361		2203	4300	6503	SO:0001583	missense	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.533G>A	5.37:g.54327361G>A	ENSP00000231009:p.Arg178Gln		B2R563	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R178Q	ENST00000231009.2	37	c.533	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544371	0.65198	.	.	ENSG00000113088	ENST00000231009	D	0.88818	-2.43	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065645	0.56097	D	0.000030	D	0.85885	0.5801	L	0.45422	1.42	0.46131	D	0.998884	B	0.29552	0.248	B	0.30401	0.115	T	0.83054	-0.0151	10	0.34782	T	0.22	.	17.571	0.87934	0.0:0.0:1.0:0.0	.	178	P49863	GRAK_HUMAN	Q	178	ENSP00000231009:R178Q	ENSP00000231009:R178Q	R	+	2	0	GZMK	54363118	0.998000	0.40836	0.743000	0.31040	0.600000	0.36913	4.329000	0.59260	2.689000	0.91719	0.655000	0.94253	CGA	GZMK	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000113088		0.483	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1		0.00	32	0	G	NM_002104		54327361	+1			no_errors	ENST00000231009	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.996	A
HDAC4	9759	genome.wustl.edu	37	2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L|HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77.0	85.0	82.0					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0.00	79	0	G	NM_006037		240016733	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.191	T
HDGFRP2	84717	genome.wustl.edu	37	19	4491828	4491828	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:4491828A>G	ENST00000301284.4	+	6	738	c.674A>G	c.(673-675)aAa>aGa	p.K225R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K225R	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		225	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGACGGAAAAAAAAGGTAGCG	0.632																																																	0													43.0	53.0	50.0					19																	4491828		1883	4106	5989	SO:0001583	missense	0																														ENST00000301284.4:c.674A>G	19.37:g.4491828A>G	ENSP00000301284:p.Lys225Arg		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K225R	ENST00000301284.4	37	c.674	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982894	0.53827	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.49432	0.78	4.81	4.81	0.61882	.	0.173341	0.48767	D	0.000164	T	0.56601	0.1996	L	0.43152	1.355	0.27037	N	0.964107	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.49818	-0.8899	10	0.38643	T	0.18	.	10.7911	0.46434	1.0:0.0:0.0:0.0	.	225;225	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	R	225;211	ENSP00000301284:K225R	ENSP00000301284:K225R	K	+	2	0	AC011498.1	4442828	1.000000	0.71417	0.997000	0.53966	0.506000	0.33950	3.596000	0.54024	1.794000	0.52575	0.454000	0.30748	AAA	HDGFRP2	-	NULL	ENSG00000167674		0.632	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1	-	0.00	87	0	A			4491828	+1	tier1	-	no_errors	ENST00000301284	ensembl	human	known	74_37	missense	11.27	63	8	SNP	1.000	G
HEATR6	63897	genome.wustl.edu	37	17	58121221	58121221	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:58121221G>T	ENST00000184956.6	-	20	3265	c.3249C>A	c.(3247-3249)gcC>gcA	p.A1083A	AC005702.4_ENST00000583144.1_RNA|HEATR6_ENST00000585976.1_Silent_p.A971A|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.2_ENST00000577558.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1083							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCGAGGCACTGGCCAAGCTCA	0.463																																																	0													113.0	116.0	115.0					17																	58121221		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3249C>A	17.37:g.58121221G>T			B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	superfamily_ARM-type_fold	p.A1083	ENST00000184956.6	37	c.3249	CCDS11623.1	17																																																																																			HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.463	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1		0.00	98	0	G	NM_022070		58121221	-1			no_errors	ENST00000184956	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T
HERC4	26091	genome.wustl.edu	37	10	69716602	69716603	+	Intron	INS	-	-	A	rs78135151		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:69716602_69716603insA	ENST00000395198.3	-	18	2297				HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Intron|HERC4_ENST00000277817.6_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAGAAACAATTAAAAAAAAAAA	0.332																																																	0																																										SO:0001627	intron_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2049+31->T	10.37:g.69716613_69716613dupA			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	INS	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-	ENSG00000148634		0.332	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0.00	27	0	-	NM_015601		69716603	-1	tier1		no_errors	ENST00000480158	ensembl	human	known	74_37	rna	14.81	23	4	INS	0.000:0.000	A
HERC6	55008	genome.wustl.edu	37	4	89338611	89338611	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:89338611G>T	ENST00000264346.7	+	13	1652	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L	HERC6_ENST00000380265.5_Silent_p.L531L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	531					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AATCTTCTCTGAATCCGCTGA	0.413																																																	0													68.0	62.0	64.0					4																	89338611		1862	4087	5949	SO:0001819	synonymous_variant	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1593G>T	4.37:g.89338611G>T			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L531	ENST00000264346.7	37	c.1593	CCDS47098.1	4																																																																																			HERC6	-	NULL	ENSG00000138642		0.413	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	-	0.00	51	0	G			89338611	+1	tier1	-	no_errors	ENST00000264346	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.582	T
HINT1	3094	genome.wustl.edu	37	5	130500767	130500767	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:130500767G>T	ENST00000304043.5	-	1	391				HINT1_ENST00000508488.1_Intron|HINT1_ENST00000506908.1_Intron|HINT1_ENST00000506207.1_Intron|HINT1_ENST00000513012.1_Silent_p.L44L	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	GCAGGCGAGAGAGGTGGTGCC	0.612																																																	0													69.0	59.0	62.0					5																	130500767		2203	4300	6503	SO:0001627	intron_variant	0			BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"""histidine triad nucleotide-binding protein"""	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.111+20C>A	5.37:g.130500767G>T			Q9H5W8	Silent	SNP	superfamily_HIT-like	p.L44	ENST00000304043.5	37	c.132	CCDS4147.1	5																																																																																			HINT1	-	NULL	ENSG00000169567		0.612	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINT1	HGNC	protein_coding	OTTHUMT00000250984.1	-	0.00	31	0	G	NM_005340		130500767	-1	tier1	-	no_errors	ENST00000504202	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.000	T
HIVEP3	59269	genome.wustl.edu	37	1	42049271	42049271	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:42049271C>A	ENST00000372583.1	-	4	2083	c.1198G>T	c.(1198-1200)Gca>Tca	p.A400S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A400S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A400S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A400S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	400	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCTGCTCTGCACTCTCGGAG	0.572																																																	0													111.0	100.0	104.0					1																	42049271		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1198G>T	1.37:g.42049271C>A	ENSP00000361664:p.Ala400Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A400S	ENST00000372583.1	37	c.1198	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969712	0.34754	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.15	4.23	0.50019	.	0.259019	0.27600	N	0.018647	T	0.44371	0.1290	M	0.76727	2.345	0.34916	D	0.747984	B;B	0.30281	0.275;0.18	B;B	0.26202	0.067;0.031	T	0.59963	-0.7355	10	0.54805	T	0.06	0.3241	14.5397	0.67984	0.1558:0.8442:0.0:0.0	.	400;400	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	400	ENSP00000361665:A400S;ENSP00000361664:A400S;ENSP00000247584:A400S;ENSP00000410828:A400S	ENSP00000247584:A400S	A	-	1	0	HIVEP3	41821858	1.000000	0.71417	0.884000	0.34674	0.014000	0.08584	4.615000	0.61190	1.370000	0.46153	0.655000	0.94253	GCA	HIVEP3	-	NULL	ENSG00000127124		0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0.00	64	0	C	NM_024503		42049271	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.994	A
HMGN5	79366	genome.wustl.edu	37	X	80371790	80371790	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)											148.0	113.0	125.0					X																	80371790		2203	4297	6500	SO:0001819	synonymous_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T			Q5JSL1	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			HMGN5	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198157		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	-	0.00	23	0	G	NM_030763		80371790	-1	tier1	-	no_errors	ENST00000358130	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.020	T
HMMR	3161	genome.wustl.edu	37	5	162917504	162917504	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:162917504G>T	ENST00000358715.3	+	17	2104	c.2068G>T	c.(2068-2070)Gct>Tct	p.A690S	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.A675S|HMMR_ENST00000432118.2_Missense_Mutation_p.A604S|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.A691S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	690					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TCCTTCAAAGGCTTTTCATCA	0.333																																																	0													74.0	80.0	78.0					5																	162917504		2201	4299	6500	SO:0001583	missense	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2068G>T	5.37:g.162917504G>T	ENSP00000351554:p.Ala690Ser		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.A691S	ENST00000358715.3	37	c.2071	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426511	0.83667	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	M	0.74258	2.255	0.42336	D	0.992315	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.999	T	0.08932	-1.0698	10	0.87932	D	0	-10.1937	16.948	0.86235	0.0:0.0:0.8712:0.1288	.	604;691;675;690	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	S	576;675;691;667;604;690	ENSP00000400527:A576S;ENSP00000185942:A675S;ENSP00000377492:A691S;ENSP00000402673:A604S;ENSP00000351554:A690S	ENSP00000185942:A675S	A	+	1	0	HMMR	162850082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.016000	0.64041	1.578000	0.49821	0.650000	0.86243	GCT	HMMR	-	NULL	ENSG00000072571		0.333	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	-	0.00	38	0	G	NM_012484		162917504	+1	tier1	-	no_errors	ENST00000393915	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
HN1L	90861	genome.wustl.edu	37	16	1741892	1741892	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:1741892G>C	ENST00000248098.3	+	3	299	c.242G>C	c.(241-243)cGa>cCa	p.R81P	HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.R109P|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382710.4_Missense_Mutation_p.R69P|HN1L_ENST00000382711.5_Missense_Mutation_p.R65P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTGCAGACTCGACAGCACCTG	0.557																																																	0													118.0	98.0	104.0					16																	1741892		2199	4300	6499	SO:0001583	missense	0			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.242G>C	16.37:g.1741892G>C	ENSP00000248098:p.Arg81Pro		B1AJY2|Q6EIC7	Missense_Mutation	SNP	NULL	p.R81P	ENST00000248098.3	37	c.242	CCDS10441.1	16	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008408	0.35415	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.47528	0.84;0.84	6.17	5.22	0.72569	.	0.258781	0.40385	N	0.001110	T	0.58075	0.2097	L	0.43923	1.385	0.20926	N	0.999829	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51004	-0.8760	10	0.34782	T	0.22	-4.8873	11.1909	0.48685	0.0663:0.1271:0.8067:0.0	.	69;109;81	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	P	81;109;81;69	ENSP00000248098:R81P;ENSP00000372157:R69P	ENSP00000248098:R81P	R	+	2	0	HN1L	1681893	0.985000	0.35326	0.069000	0.20011	0.243000	0.25628	3.557000	0.53741	1.626000	0.50381	0.655000	0.94253	CGA	HN1L	-	NULL	ENSG00000206053		0.557	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2		0.00	48	0	G	NM_144570		1741892	+1			no_errors	ENST00000248098	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.157	C
HSPG2	3339	genome.wustl.edu	37	1	22175189	22175189	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:22175189G>A	ENST00000374695.3	-	59	7763	c.7684C>T	c.(7684-7686)Ccc>Tcc	p.P2562S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2562	Ig-like C2-type 11.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGGTGTGGGGAGCCTGGCTG	0.657																																																	0													66.0	68.0	67.0					1																	22175189		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7684C>T	1.37:g.22175189G>A	ENSP00000363827:p.Pro2562Ser		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2562S	ENST00000374695.3	37	c.7684	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166357	0.57476	.	.	ENSG00000142798	ENST00000374695	T	0.66638	-0.22	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38217	N	0.001766	T	0.70343	0.3213	N	0.25647	0.755	0.36903	D	0.890504	P;D	0.63046	0.571;0.992	B;D	0.64042	0.403;0.921	T	0.76664	-0.2876	10	0.52906	T	0.07	.	15.5359	0.76001	0.0:0.0:1.0:0.0	.	502;2562	Q59EG0;P98160	.;PGBM_HUMAN	S	2562	ENSP00000363827:P2562S	ENSP00000363827:P2562S	P	-	1	0	HSPG2	22047776	0.759000	0.28416	1.000000	0.80357	0.977000	0.68977	3.732000	0.55021	2.245000	0.73994	0.561000	0.74099	CCC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000142798		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	60	0	G	NM_005529		22175189	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	50.00	18	18	SNP	0.998	A
HSD3B2	3284	genome.wustl.edu	37	1	119965155	119965155	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:119965155G>T	ENST00000543831.1	+	4	1280	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S344I	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	344					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCACTCTACAGCTGGGAGGAA	0.512																																																	0													62.0	57.0	59.0					1																	119965155		2203	4300	6503	SO:0001583	missense	0			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1031G>T	1.37:g.119965155G>T	ENSP00000445122:p.Ser344Ile		A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.S344I	ENST00000543831.1	37	c.1031	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	15.92	2.973844	0.53720	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.90261	-2.64;-2.64	4.32	2.35	0.29111	.	0.387614	0.32258	N	0.006357	D	0.90741	0.7094	M	0.92169	3.28	0.24126	N	0.995789	D	0.52996	0.957	P	0.50970	0.655	D	0.85853	0.1405	9	.	.	.	-23.8507	8.5966	0.33718	0.0891:0.3231:0.5878:0.0	.	344	P26439	3BHS2_HUMAN	I	344	ENSP00000445122:S344I;ENSP00000358424:S344I	.	S	+	2	0	HSD3B2	119766678	0.918000	0.31147	0.989000	0.46669	0.856000	0.48823	1.279000	0.33191	0.273000	0.22049	0.298000	0.19748	AGC	HSD3B2	-	NULL	ENSG00000203859		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	-	0.00	57	0	G	NM_000198		119965155	+1	tier1	-	no_errors	ENST00000369416	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.997	T
HRNR	388697	genome.wustl.edu	37	1	152195673	152195673	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:152195673G>T	ENST00000368801.2	-	2	132	c.57C>A	c.(55-57)gcC>gcA	p.A19A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGGGTGGCATATTGGT	0.418																																																	0													171.0	156.0	161.0					1																	152195673		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.57C>A	1.37:g.152195673G>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A19	ENST00000368801.2	37	c.57	CCDS30859.1	1																																																																																			HRNR	-	pfam_S100_Ca-bd_sub	ENSG00000197915		0.418	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	60	0	G	XM_373868		152195673	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.327	T
IFIH1	64135	genome.wustl.edu	37	2	163134715	163134716	+	Splice_Site	INS	-	-	T	rs150760072|rs553669430	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:163134715_163134716insT	ENST00000263642.2	-	9	2159_2160	c.1764_1765insA	c.(1762-1767)aaagct>aaaAgct	p.A589fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	589					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	8	0.00159744	0.0061	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0																0										25,4239		0,25,2107						5.7	1.0			121	5,8247		0,5,4121	no	frameshift-near-splice	IFIH1	NM_022168.2		0,30,6228	A1A1,A1R,RR		0.0606,0.5863,0.2397				30,12486				SO:0001630	splice_region_variant	0			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1765+1->A	2.37:g.163134723_163134723dupT			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Ins	INS	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A588fs	ENST00000263642.2	37	c.1765_1764	CCDS2217.1	2																																																																																			IFIH1	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	ENSG00000115267		0.327	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2		0.00	61	0	-	NM_022168	Frame_Shift_Ins	163134716	-1	tier1		no_errors	ENST00000263642	ensembl	human	known	74_37	frame_shift_ins	34.83	58	31	INS	1.000:1.000	T
IGSF10	285313	genome.wustl.edu	37	3	151174850	151174850	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:151174850G>T	ENST00000282466.3	-	2	287	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTGTCAGGGATTGTGTGAA	0.468																																																	0													126.0	111.0	116.0					3																	151174850		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.288C>A	3.37:g.151174850G>T			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I96	ENST00000282466.3	37	c.288	CCDS3160.1	3																																																																																			IGSF10	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	72	0	G	NM_178822		151174850	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.939	T
IL10RA	3587	genome.wustl.edu	37	11	117859096	117859096	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:117859096G>T	ENST00000227752.3	+	2	187		c.e2-1		IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha						cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCTCCCCAGGGACAGAGCT	0.532																																																	0													106.0	104.0	105.0					11																	117859096		2201	4296	6497	SO:0001630	splice_region_variant	0			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.68-1G>T	11.37:g.117859096G>T			A8K6I0|B0YJ27	Splice_Site	SNP	-	e2-1	ENST00000227752.3	37	c.68-1	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928769	0.34002	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	.	.	.	5.13	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7937	0.52084	0.0:0.342:0.658:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL10RA	117364306	0.000000	0.05858	0.001000	0.08648	0.340000	0.28889	0.299000	0.19138	0.514000	0.28300	0.555000	0.69702	.	IL10RA	-	-	ENSG00000110324		0.532	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1	-	0.00	73	0	G		Intron	117859096	+1	tier1	-	no_errors	ENST00000227752	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	0.002	T
IL5RA	3568	genome.wustl.edu	37	3	3139909	3139909	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:3139909G>T	ENST00000446632.2	-	6	1007	c.433C>A	c.(433-435)Cgt>Agt	p.R145S	IL5RA_ENST00000418488.2_Missense_Mutation_p.R145S|IL5RA_ENST00000383846.1_Missense_Mutation_p.R145S|IL5RA_ENST00000311981.8_Missense_Mutation_p.R145S|IL5RA_ENST00000256452.3_Missense_Mutation_p.R145S|IL5RA_ENST00000456302.1_Missense_Mutation_p.R145S|IL5RA_ENST00000438560.1_Missense_Mutation_p.R145S|IL5RA_ENST00000430514.2_Missense_Mutation_p.R145S|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	145					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GACCTTAAACGTGAATAATTG	0.418																																					GBM(169;430 2801 24955 28528)												0													210.0	216.0	214.0					3																	3139909		2203	4300	6503	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.433C>A	3.37:g.3139909G>T	ENSP00000412209:p.Arg145Ser		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.R145S	ENST00000446632.2	37	c.433	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275086	0.10403	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;T;T;T;T;T;T	0.87334	-2.24;-2.13;-2.24;1.3;1.3;1.3;1.3;1.3;1.56	4.34	-0.881	0.10607	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.843040	0.02445	N	0.084953	T	0.72095	0.3418	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25486	0.068;0.009;0.009;0.008;0.127	B;B;B;B;B	0.20577	0.03;0.012;0.012;0.018;0.03	T	0.61058	-0.7139	10	0.35671	T	0.21	-0.3764	2.7649	0.05317	0.0876:0.291:0.3232:0.2983	.	145;145;145;145;145	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	S	145	ENSP00000412209:R145S;ENSP00000390753:R145S;ENSP00000256452:R145S;ENSP00000388858:R145S;ENSP00000373358:R145S;ENSP00000309196:R145S;ENSP00000400400:R145S;ENSP00000392059:R145S;ENSP00000398117:R145S	ENSP00000256452:R145S	R	-	1	0	IL5RA	3114909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.037000	0.13840	-0.168000	0.10853	-0.822000	0.03109	CGT	IL5RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.418	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	-	0.00	128	0	G			3139909	-1	tier1	-	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	43.28	38	29	SNP	0.000	T
INPP5D	3635	genome.wustl.edu	37	2	233990466	233990466	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233990466G>A	ENST00000359570.5	+	4	361	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.V121M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAAAGTGTCGTGTCTCCACC	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)												0													32.0	37.0	35.0					2																	233990466		2182	4286	6468	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.361G>A	2.37:g.233990466G>A	ENSP00000352575:p.Val121Met		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.V121M	ENST00000359570.5	37	c.361		2	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904244	0.17760	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96136	-2.91;-2.9;-3.92;-3.9	5.23	-10.5	0.00291	.	2.535600	0.01248	N	0.008808	D	0.90424	0.7002	.	.	.	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.10450	0.005;0.004	T	0.80125	-0.1513	9	0.41790	T	0.15	.	10.3267	0.43798	0.2148:0.3998:0.3854:0.0	.	120;121	Q92835-2;Q92835	.;SHIP1_HUMAN	M	120;121;121;121	ENSP00000409018:V120M;ENSP00000415253:V121M;ENSP00000352575:V121M;ENSP00000441010:V121M	ENSP00000352575:V121M	V	+	1	0	INPP5D	233698710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-3.195000	0.00218	-1.722000	0.00706	GTG	INPP5D	-	NULL	ENSG00000168918		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0.00	66	0	G	NM_001017915		233990466	+1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	45.31	35	29	SNP	0.000	A
INTS1	26173	genome.wustl.edu	37	7	1518422	1518422	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:1518422G>T	ENST00000404767.3	-	32	4514	c.4429C>A	c.(4429-4431)Ctg>Atg	p.L1477M	INTS1_ENST00000389470.4_Missense_Mutation_p.L1676M	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1477					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTGCCCGCAGGGGCCCGCCC	0.701																																																	0													11.0	14.0	13.0					7																	1518422		2047	4140	6187	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4429C>A	7.37:g.1518422G>T	ENSP00000385722:p.Leu1477Met		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L1676M	ENST00000404767.3	37	c.5026	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803145	0.31869	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.60040	0.38;0.22	4.68	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.34521	1.04	0.35110	D	0.766026	P	0.43578	0.811	B	0.39660	0.306	T	0.54153	-0.8336	10	0.52906	T	0.07	.	9.7054	0.40211	0.1696:0.0:0.8304:0.0	.	1477	Q8N201	INT1_HUMAN	M	1477;1676	ENSP00000385722:L1477M;ENSP00000374121:L1676M	ENSP00000374121:L1676M	L	-	1	2	INTS1	1484948	1.000000	0.71417	0.157000	0.22605	0.061000	0.15899	4.470000	0.60175	0.380000	0.24823	0.511000	0.50034	CTG	INTS1	-	NULL	ENSG00000164880		0.701	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1		0.00	30	0	G			1518422	-1			no_errors	ENST00000389470	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.750	T
IRAK2	3656	genome.wustl.edu	37	3	10283813	10283813	+	Silent	SNP	G	G	T	rs372211228		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:10283813G>T	ENST00000256458.4	+	13	1869	c.1779G>T	c.(1777-1779)tcG>tcT	p.S593S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	593					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						CAGAAACTTCGTGGCAAATTG	0.373																																																	0													84.0	85.0	85.0					3																	10283813		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.1779G>T	3.37:g.10283813G>T			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.S593	ENST00000256458.4	37	c.1779	CCDS33697.1	3																																																																																			IRAK2	-	NULL	ENSG00000134070		0.373	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1		0.00	57	0	G			10283813	+1			no_errors	ENST00000256458	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.039	T
IRX6	79190	genome.wustl.edu	37	16	55361258	55361258	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:55361258G>T	ENST00000290552.7	+	3	1686	c.354G>T	c.(352-354)ctG>ctT	p.L118L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	118					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CATCCAGCCTGGCACAACCAG	0.512																																																	0													77.0	77.0	77.0					16																	55361258		2198	4300	6498	SO:0001819	synonymous_variant	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.354G>T	16.37:g.55361258G>T			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.L118	ENST00000290552.7	37	c.354	CCDS32449.1	16																																																																																			IRX6	-	NULL	ENSG00000159387		0.512	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4		0.00	60	0	G	NM_024335		55361258	+1			no_errors	ENST00000290552	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.998	T
ITGB1BP1	9270	genome.wustl.edu	37	2	9552384	9552384	+	Intron	DEL	T	T	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:9552384delT	ENST00000360635.3	-	5	1185				ITGB1BP1_ENST00000456913.2_Intron|ITGB1BP1_ENST00000359712.3_Intron|ITGB1BP1_ENST00000355346.4_Intron|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1						activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AGTTACGGAATTTTTTTTTTT	0.488																																																	0									,	633,165,15,3421		44,4,3,538,3,0,155,0,12,1358	32.0	32.0	32.0		,	-3.1	0.0	2	dbSNP_132	32	3001,174,76,4991		413,14,53,2108,1,0,158,1,21,1352	no	intron,intron	ITGB1BP1	NM_022334.3,NM_004763.3	,	457,18,56,2646,4,0,313,1,33,2710	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		39.4443,19.2017,32.5745	,	,	9552384	3634,339,91,8412	2192	4296	6488	SO:0001627	intron_variant	0			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.288+13A>-	2.37:g.9552384delT			D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	pfam_Integrin-bd_ICAP-1	p.N101fs	ENST00000360635.3	37	c.302	CCDS1662.1	2																																																																																			ITGB1BP1	-	NULL	ENSG00000119185		0.488	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2		0.00	15	0	T	NM_004763, NM_022334		9552384	-1	tier1		no_errors	ENST00000483795	ensembl	human	known	74_37	frame_shift_del	25.00	9	3	DEL	0.000	-
KCND3	3752	genome.wustl.edu	37	1	112524365	112524365	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:112524365G>T	ENST00000315987.2	-	2	1463	c.984C>A	c.(982-984)ctC>ctA	p.L328L	KCND3_ENST00000302127.4_Silent_p.L328L|KCND3_ENST00000369697.1_Silent_p.L328L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	328					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCCATGGTGAGGGAGAAGA	0.547																																																	0													107.0	103.0	104.0					1																	112524365		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.984C>A	1.37:g.112524365G>T			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.L328	ENST00000315987.2	37	c.984	CCDS843.1	1																																																																																			KCND3	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv	ENSG00000171385		0.547	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1		0.00	82	0	G	NM_172198		112524365	-1			no_errors	ENST00000315987	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T
KCNMA1	3778	genome.wustl.edu	37	10	78869966	78869966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:78869966G>A	ENST00000286628.8	-	8	1095	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	KCNMA1_ENST00000404771.3_Missense_Mutation_p.R366C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R366C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R366C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R366C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	366					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R366C(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATGAAGAGGCGCCCAAGTGTG	0.403																																																	2	Substitution - Missense(2)	prostate(2)											162.0	159.0	160.0					10																	78869966		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1096C>T	10.37:g.78869966G>A	ENSP00000286628:p.Arg366Cys		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.R366C	ENST00000286628.8	37	c.1096		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.420305|4.420305	0.83559|0.83559	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.98090	.|-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98947|0.98947	0.9642|0.9642	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.971;0.999;1.0;1.0	D|D	0.99737|0.99737	1.1014|1.1014	5|10	.|0.87932	.|D	.|0	-10.7629|-10.7629	19.3186|19.3186	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|366;366;366;366;366;148;366	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	V|C	354;44|366;303;301;340;303;366;366;340;366;366;366;148	.|ENSP00000361517:R366C;ENSP00000361485:R303C;ENSP00000361514:R301C;ENSP00000396608:R340C;ENSP00000361520:R366C;ENSP00000286627:R366C;ENSP00000385552:R366C;ENSP00000346321:R366C;ENSP00000385806:R366C	.|ENSP00000286627:R366C	A|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78539972|78539972	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.648000|0.648000	0.38561|0.38561	9.859000|9.859000	0.99545|0.99545	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	GCG|CGC	KCNMA1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000156113		0.403	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0.00	73	0	G	NM_002247		78869966	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	43.86	32	25	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196300382	196300382	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:196300382T>G	ENST00000294725.9	-	18	2922	c.2007A>C	c.(2005-2007)aaA>aaC	p.K669N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.K669N|KCNT2_ENST00000451324.2_Missense_Mutation_p.K280N|KCNT2_ENST00000609185.1_Missense_Mutation_p.K619N|KCNT2_ENST00000367431.4_Missense_Mutation_p.K619N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	669					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGGGTAACCTTTAGCATACC	0.328																																																	0													126.0	138.0	134.0					1																	196300382		2203	4293	6496	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2007A>C	1.37:g.196300382T>G	ENSP00000294725:p.Lys669Asn		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.K669N	ENST00000294725.9	37	c.2007	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.306997	0.60305	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.87144	0.6104	M	0.88842	2.985	0.49915	D	0.999833	P;P;P;P;P	0.51791	0.913;0.948;0.948;0.948;0.913	B;P;P;P;B	0.48454	0.374;0.578;0.578;0.578;0.374	D	0.87288	0.2297	10	0.36615	T	0.2	-31.4777	11.3252	0.49444	0.0:0.073:0.0:0.927	.	669;651;669;619;669	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	N	669;619;490;280;669	ENSP00000356403:K669N;ENSP00000356401:K619N;ENSP00000405474:K280N;ENSP00000294725:K669N	ENSP00000294725:K669N	K	-	3	2	KCNT2	194567005	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.139000	0.31504	2.216000	0.71823	0.397000	0.26171	AAA	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2		0.00	41	0	T	NM_198503		196300382	-1			no_errors	ENST00000294725	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	G
KCNV1	27012	genome.wustl.edu	37	8	110986369	110986369	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110986369G>T	ENST00000524391.1	-	2	1281	c.249C>A	c.(247-249)gcC>gcA	p.A83A	KCNV1_ENST00000297404.1_Silent_p.A83A|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGCTGGGCACGGCGGCCAGGG	0.672																																																	0													21.0	20.0	20.0					8																	110986369		2199	4297	6496	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.249C>A	8.37:g.110986369G>T			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.A83	ENST00000524391.1	37	c.249	CCDS6314.1	8																																																																																			KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000164794		0.672	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	103	0	G	NM_014379		110986369	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.925	T
KCNV1	27012	genome.wustl.edu	37	8	110986411	110986411	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110986411G>T	ENST00000524391.1	-	2	1239	c.207C>A	c.(205-207)gcC>gcA	p.A69A	KCNV1_ENST00000297404.1_Silent_p.A69A|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	69					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCACCACCACGGCCAGCTTGC	0.697																																																	0													13.0	13.0	13.0					8																	110986411		2190	4284	6474	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.207C>A	8.37:g.110986411G>T			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.A69	ENST00000524391.1	37	c.207	CCDS6314.1	8																																																																																			KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9	ENSG00000164794		0.697	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	72	0	G	NM_014379		110986411	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.996	T
KDM3B	51780	genome.wustl.edu	37	5	137708469	137708469	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:137708469C>A	ENST00000314358.5	+	2	499	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	100					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTATGGGCGCCCCGTGAGGAC	0.522																																																	0													80.0	75.0	77.0					5																	137708469		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.299C>A	5.37:g.137708469C>A	ENSP00000326563:p.Pro100His		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P100H	ENST00000314358.5	37	c.299	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783057	0.70222	.	.	ENSG00000120733	ENST00000314358	T	0.61158	0.13	5.11	4.24	0.50183	.	0.222450	0.46442	D	0.000290	T	0.65790	0.2725	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.58520	0.84	T	0.68985	-0.5265	10	0.62326	D	0.03	-15.8827	13.6435	0.62267	0.0:0.9256:0.0:0.0744	.	100	Q7LBC6	KDM3B_HUMAN	H	100	ENSP00000326563:P100H	ENSP00000326563:P100H	P	+	2	0	KDM3B	137736368	1.000000	0.71417	0.971000	0.41717	0.856000	0.48823	5.480000	0.66820	1.386000	0.46466	0.563000	0.77884	CCC	KDM3B	-	NULL	ENSG00000120733		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	38	0	C	NM_016604		137708469	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.995	A
KHDRBS2	202559	genome.wustl.edu	37	6	62604590	62604590	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:62604590G>T	ENST00000281156.4	-	6	1038	c.760C>A	c.(760-762)Cca>Aca	p.P254T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTATCCTGGCACTGTTGGT	0.517																																																	0													70.0	72.0	71.0					6																	62604590		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.760C>A	6.37:g.62604590G>T	ENSP00000281156:p.Pro254Thr		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P254T	ENST00000281156.4	37	c.760	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655061	0.29425	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.41400	1.0	5.82	5.82	0.92795	.	0.108992	0.64402	D	0.000006	T	0.20210	0.0486	L	0.29908	0.895	0.52501	D	0.999959	B	0.09022	0.002	B	0.08055	0.003	T	0.08249	-1.0731	10	0.16896	T	0.51	-2.8519	20.0856	0.97800	0.0:0.0:1.0:0.0	.	254	Q5VWX1	KHDR2_HUMAN	T	254	ENSP00000281156:P254T	ENSP00000281156:P254T	P	-	1	0	KHDRBS2	62662549	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	7.731000	0.84895	2.734000	0.93682	0.655000	0.94253	CCA	KHDRBS2	-	NULL	ENSG00000112232		0.517	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0.00	48	0	G	NM_152688		62604590	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.998	T
KHDRBS2	202559	genome.wustl.edu	37	6	62604610	62604610	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:62604610G>T	ENST00000281156.4	-	6	1018	c.740C>A	c.(739-741)gCc>gAc	p.A247D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	247	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGCCCCCCGGGCTCGAGGGGT	0.562																																																	0													58.0	60.0	59.0					6																	62604610		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.740C>A	6.37:g.62604610G>T	ENSP00000281156:p.Ala247Asp		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A247D	ENST00000281156.4	37	c.740	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004215	0.93287	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.51325	0.71	5.52	5.52	0.82312	.	0.165430	0.53938	D	0.000046	T	0.54046	0.1834	M	0.61703	1.905	0.47994	D	0.999563	P	0.49696	0.927	P	0.53062	0.717	T	0.56492	-0.7970	10	0.66056	D	0.02	-0.503	19.7889	0.96450	0.0:0.0:1.0:0.0	.	247	Q5VWX1	KHDR2_HUMAN	D	247	ENSP00000281156:A247D	ENSP00000281156:A247D	A	-	2	0	KHDRBS2	62662569	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.866000	0.69590	2.734000	0.93682	0.655000	0.94253	GCC	KHDRBS2	-	NULL	ENSG00000112232		0.562	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2		0.00	42	0	G	NM_152688		62604610	-1			no_errors	ENST00000281156	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T
KIAA1549L	25758	genome.wustl.edu	37	11	33566437	33566437	+	Missense_Mutation	SNP	G	G	T	rs372391492		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:33566437G>T	ENST00000321505.4	+	2	2187	c.2007G>T	c.(2005-2007)ttG>ttT	p.L669F	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L675F|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L675F			Q6ZVL6	K154L_HUMAN	KIAA1549-like	669						integral component of membrane (GO:0016021)											GCAGCCCTTTGGCCGTGGCCT	0.557																																																	0													42.0	45.0	44.0					11																	33566437		2002	4165	6167	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2007G>T	11.37:g.33566437G>T	ENSP00000315295:p.Leu669Phe		B0QYU0	Missense_Mutation	SNP	NULL	p.L675F	ENST00000321505.4	37	c.2025	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.177|5.177	0.218285|0.218285	0.09810|0.09810	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	3.52|3.52	-1.89|-1.89	0.07689|0.07689	.|.	0.213153|.	0.23261|.	U|.	0.050121|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.29909|.	0.261;0.101|.	B;B|.	0.28784|.	0.094;0.073|.	T|T	0.25398|0.25398	-1.0133|-1.0133	9|5	0.46703|.	T|.	0.11|.	.|.	0.2797|0.2797	0.00243|0.00243	0.2471:0.1663:0.3133:0.2732|0.2471:0.1663:0.3133:0.2732	.|.	675;675|.	E9PAT2;Q6ZVL6-2|.	.;.|.	F|L	669;675;675;509|67	.|.	ENSP00000265654:L675F|.	L|W	+|+	3|2	2|0	C11orf41|C11orf41	33523013|33523013	0.001000|0.001000	0.12720|0.12720	0.836000|0.836000	0.33094|0.33094	0.553000|0.553000	0.35397|0.35397	-0.906000|-0.906000	0.04071|0.04071	0.072000|0.072000	0.16694|0.16694	0.537000|0.537000	0.68136|0.68136	TTG|TGG	KIAA1549L	-	NULL	ENSG00000110427		0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0.00	47	0	G	NM_012194		33566437	+1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.015	T
KIF18B	146909	genome.wustl.edu	37	17	43012200	43012200	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:43012200T>C	ENST00000593135.1	-	4	672	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	KIF18B_ENST00000587309.1_Splice_Site_p.Q192R|KIF18B_ENST00000339151.4_Splice_Site_p.Q192R|KIF18B_ENST00000438933.2_Splice_Site_p.Q192R|KIF18B_ENST00000590129.1_Splice_Site_p.Q201R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCCCACACCTGGTGGAAAGA	0.592																																																	0													15.0	17.0	16.0					17																	43012200		1795	3887	5682	SO:0001630	splice_region_variant	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.576+1A>G	17.37:g.43012200T>C			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q192R	ENST00000593135.1	37	c.575	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465455	0.43839	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.36	3.1	0.35709	Kinesin, motor domain (4);	0.000000	0.35013	N	0.003514	T	0.67458	0.2895	L	0.45581	1.43	0.39255	D	0.964103	B;B;B	0.27192	0.1;0.171;0.082	B;B;B	0.34991	0.098;0.193;0.059	T	0.61855	-0.6977	10	0.44086	T	0.13	.	7.8046	0.29195	0.0:0.0732:0.139:0.7878	.	201;201;201	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	R	192	ENSP00000412798:Q192R;ENSP00000341466:Q192R	ENSP00000341466:Q192R	Q	-	2	0	KIF18B	40367726	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.747000	0.62141	0.331000	0.23511	0.454000	0.30748	CAG	KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186185		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	0.00	78	0	T	NM_001080443	Missense_Mutation	43012200	-1	tier1	-	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	C
KLRF1	51348	genome.wustl.edu	37	12	9994450	9994450	+	Missense_Mutation	SNP	G	G	A	rs3052097|rs111928232		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:9994450G>A	ENST00000279544.3	+	4	441	c.377G>A	c.(376-378)tGt>tAt	p.C126Y	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.C76Y|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGGAAGTGTTGTTATTGGTTC	0.323																																																	0													142.0	134.0	136.0					12																	9994450		1842	4083	5925	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.377G>A	12.37:g.9994450G>A	ENSP00000279544:p.Cys126Tyr		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C126Y	ENST00000279544.3	37	c.377	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	-	4.237	0.042890	0.08196	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.38401	1.14;1.14	.	.	.	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.62708	0.2450	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.983	T	0.65162	-0.6235	6	.	.	.	.	.	.	.	.	126;76	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	Y	76;126	ENSP00000322487:C76Y;ENSP00000279544:C126Y	.	C	+	2	0	KLRF1	9885717	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TGT	KLRF1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1		0.00	40	0	G	NM_016523		9994450	+1			no_errors	ENST00000279544	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	A
KMT2A	4297	genome.wustl.edu	37	11	118354912	118354912	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:118354912G>T	ENST00000389506.5	+	9	4101	c.4101G>T	c.(4099-4101)ccG>ccT	p.P1367P	KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000354520.4_Silent_p.P1367P|KMT2A_ENST00000534358.1_Silent_p.P1367P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1367					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AACCACCTCCGGTCAATAAGC	0.398																																																	0													101.0	95.0	97.0					11																	118354912		2200	4296	6496	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4101G>T	11.37:g.118354912G>T			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P1367	ENST00000389506.5	37	c.4101	CCDS31686.1	11																																																																																			KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0.00	32	0	G	NM_005933		118354912	+1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.002	T
KPNA1	3836	genome.wustl.edu	37	3	122180154	122180154	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:122180154G>T	ENST00000344337.6	-	5	525	c.349C>A	c.(349-351)Cct>Act	p.P117T	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	117					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCATCAATAGGAGGGTTAGGT	0.378																																					Melanoma(12;340 801 11196 19797)												0													69.0	70.0	70.0					3																	122180154		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.349C>A	3.37:g.122180154G>T	ENSP00000343701:p.Pro117Thr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.P117T	ENST00000344337.6	37	c.349	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614906	0.87359	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.94101	3.495	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.88933	0.3374	10	0.87932	D	0	-12.5199	18.0465	0.89334	0.0:0.0:1.0:0.0	.	117	P52294	IMA1_HUMAN	T	117	ENSP00000343701:P117T;ENSP00000419890:P117T;ENSP00000417166:P117T;ENSP00000417319:P117T;ENSP00000419257:P117T	ENSP00000343701:P117T	P	-	1	0	KPNA1	123662844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.569000	0.98170	2.805000	0.96524	0.655000	0.94253	CCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0.00	39	0	G	NM_002264		122180154	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T
LGALS1	3956	genome.wustl.edu	37	22	38075773	38075773	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:38075773G>T	ENST00000215909.5	+	0	520				LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1						apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CCAGCCCATGGCCCCCAATAA	0.537																																					Pancreas(23;406 890 14304 26016)												0													63.0	55.0	58.0					22																	38075773		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.*17G>T	22.37:g.38075773G>T			B2R5E8|Q9UDK5	RNA	SNP	-	NULL	ENST00000215909.5	37	NULL	CCDS13954.1	22																																																																																			LGALS1	-	-	ENSG00000100097		0.537	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS1	HGNC	protein_coding	OTTHUMT00000319482.1	-	0.00	28	0	G	NM_002305		38075773	+1	tier1	-	no_errors	ENST00000489315	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.039	T
L3MBTL2	83746	genome.wustl.edu	37	22	41605730	41605730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:41605730G>T	ENST00000216237.5	+	2	213	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	19	Poly-Glu.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATGGAGGAAGAGGAAGATGA	0.493																																																	0													178.0	181.0	180.0					22																	41605730		2203	4300	6503	SO:0001587	stop_gained	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.55G>T	22.37:g.41605730G>T	ENSP00000216237:p.Glu19*		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Nonsense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E19*	ENST00000216237.5	37	c.55	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883852	0.91814	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	.	.	.	5.37	5.37	0.77165	.	0.385411	0.26623	N	0.023357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.1152	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	X	19;11	.	ENSP00000216237:E19X	E	+	1	0	L3MBTL2	39935676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.802000	0.75175	2.528000	0.85240	0.655000	0.94253	GAG	L3MBTL2	-	NULL	ENSG00000100395		0.493	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	-	0.00	109	0	G	NM_031488		41605730	+1	tier1	-	no_errors	ENST00000216237	ensembl	human	known	74_37	nonsense	6.76	69	5	SNP	1.000	T
LIMA1	51474	genome.wustl.edu	37	12	50615856	50615856	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:50615856G>T	ENST00000341247.4	-	4	727	c.578C>A	c.(577-579)cCg>cAg	p.P193Q	LIMA1_ENST00000394943.3_Missense_Mutation_p.P193Q|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552783.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552823.1_Missense_Mutation_p.P33Q	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	193					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTGTTCAGCGGAACATTATA	0.378																																																	0													184.0	183.0	183.0					12																	50615856		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.578C>A	12.37:g.50615856G>T	ENSP00000340184:p.Pro193Gln		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P193Q	ENST00000341247.4	37	c.578	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639277	0.67244	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D	0.90676	-2.32;-2.71;-1.97;-2.32;-2.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.988;0.944;0.998	D	0.94343	0.7572	10	0.54805	T	0.06	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	202;193;33	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	Q	33;193;193;33;33;112	ENSP00000450266:P33Q;ENSP00000378400:P193Q;ENSP00000340184:P193Q;ENSP00000448779:P33Q;ENSP00000450087:P33Q	ENSP00000340184:P193Q	P	-	2	0	LIMA1	48902123	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	6.537000	0.73847	2.941000	0.99782	0.655000	0.94253	CCG	LIMA1	-	NULL	ENSG00000050405		0.378	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2		0.00	55	0	G	NM_016357		50615856	-1			no_errors	ENST00000394943	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.997	T
LIN9	286826	genome.wustl.edu	37	1	226496873	226496873	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:226496873G>T	ENST00000328205.5	-	1	561	c.16C>A	c.(16-18)Cag>Aag	p.Q6K	LIN9_ENST00000481685.1_Missense_Mutation_p.Q6K|LIN9_ENST00000366801.1_5'UTR	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	0	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCAAAGGCTGCCCGCCGCGG	0.677																																					Ovarian(197;1696 2974 11248 14117)												0													36.0	35.0	35.0					1																	226496873		2203	4300	6503	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.16C>A	1.37:g.226496873G>T	ENSP00000329102:p.Gln6Lys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_LIN-9/ALY1	p.Q6K	ENST00000328205.5	37	c.16	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	g	16.97	3.269309	0.59540	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000481685;ENST00000366807	.	.	.	3.6	2.67	0.31697	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.04013	0.001;0.001	T	0.33599	-0.9862	7	0.46703	T	0.11	.	8.3479	0.32284	0.1184:0.0:0.8816:0.0	.	6;140	C9J5J4;B1ANK3	.;.	K	1;6;6;140	.	ENSP00000329102:Q6K	Q	-	1	0	LIN9	224563496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.755000	0.47540	0.630000	0.30394	0.444000	0.29173	CAG	LIN9	-	NULL	ENSG00000183814		0.677	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	-	0.00	71	0	G	NM_173083		226496873	-1	tier1	-	no_errors	ENST00000328205	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
LINC00587	414319	genome.wustl.edu	37	9	105348048	105348048	+	lincRNA	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:105348048C>A	ENST00000374801.3	+	0	215					NR_103830.1		B1AMM8	CI107_HUMAN	long intergenic non-protein coding RNA 587																		CAATAGAAATCTTGAATGCTT	0.353																																																	0																																												0			BC038565		9q31.1	2012-10-12	2012-04-11	2012-04-11	ENSG00000204250	ENSG00000204250		"""Long non-coding RNAs"""	31372	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 107"""	C9orf107			Standard	NR_103830		Approved	bA785H23.1		B1AMM8	OTTHUMG00000020393		9.37:g.105348048C>A				RNA	SNP	-	NULL	ENST00000374801.3	37	NULL		9																																																																																			LINC00587	-	-	ENSG00000204250		0.353	LINC00587-001	KNOWN	basic	lincRNA	LINC00587	HGNC	lincRNA	OTTHUMT00000053460.1	-	0.00	69	0	C			105348048	+1	tier1	-	no_errors	ENST00000374801	ensembl	human	known	74_37	rna	31.82	30	14	SNP	0.040	A
CCER1	196477	genome.wustl.edu	37	12	91340265	91340266	+	Intron	DNP	CA	CA	TC			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:91340265_91340266CA>TC	ENST00000548187.1	-	3	193				LINC00615_ENST00000546725.1_lincRNA			Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1																		ttttttttttcaaggtaagcat	0.441																																																	0																																										SO:0001627	intron_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	Exception_encountered	12.37:g.91340265_91340266delinsTC			Q8TC47	RNA	SNP	-	NULL	ENST00000548187.1	37	NULL		12																																																																																			LINC00615	-	-	ENSG00000196243		0.441	CCER1-001	KNOWN	basic	processed_transcript	LINC00615	HGNC	protein_coding	OTTHUMT00000407141.1		0.00	10	0	C|A	NM_152638		91340265|91340266	+1			no_errors	ENST00000546725	ensembl	human	known	74_37	rna	18.18|20.00	9|8	2	SNP	0.002|0.001	T|C
LIPF	8513	genome.wustl.edu	37	10	90436001	90436001	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:90436001G>T	ENST00000238983.4	+	9	970	c.924G>T	c.(922-924)tgG>tgT	p.W308C	LIPF_ENST00000608620.1_Missense_Mutation_p.W275C|LIPF_ENST00000394375.3_Missense_Mutation_p.W318C|LIPF_ENST00000355843.2_Missense_Mutation_p.W285C	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	308					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTTATGACTGGGGAAGCCCAG	0.294																																																	0													68.0	70.0	69.0					10																	90436001		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.924G>T	10.37:g.90436001G>T	ENSP00000238983:p.Trp308Cys		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.W318C	ENST00000238983.4	37	c.954	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485867	0.26686	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.61742	0.08;0.08;0.08	4.88	2.95	0.34219	Alpha/beta hydrolase fold-1 (1);	0.267665	0.27411	N	0.019481	T	0.79305	0.4423	H	0.94462	3.54	0.48975	D	0.999734	D;D;D;D	0.89917	0.997;1.0;0.997;1.0	D;D;D;D	0.91635	0.969;0.998;0.964;0.999	T	0.79584	-0.1743	10	0.87932	D	0	-0.6109	7.8251	0.29311	0.0:0.1788:0.6356:0.1855	.	275;318;285;308	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	C	318;308;275	ENSP00000377900:W318C;ENSP00000238983:W308C;ENSP00000348101:W275C	ENSP00000238983:W308C	W	+	3	0	LIPF	90425981	1.000000	0.71417	0.995000	0.50966	0.257000	0.26127	3.375000	0.52410	0.606000	0.29965	0.551000	0.68910	TGG	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.294	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0.00	30	0	G			90436001	+1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.997	T
LOC101927542	101927542	genome.wustl.edu	37	1	83912311	83912311	+	lincRNA	SNP	A	A	C	rs368581628		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:83912311A>C	ENST00000446227.1	+	0	576																											CATTTAAACCATCAGACTGTG	0.393																																																	0																																												0																															1.37:g.83912311A>C				RNA	SNP	-	NULL	ENST00000446227.1	37	NULL		1																																																																																			RP11-413G15.1	-	-	ENSG00000231364		0.393	RP11-413G15.1-001	KNOWN	basic	lincRNA	LOC101927542	Clone_based_vega_gene	lincRNA	OTTHUMT00000026942.1		0.00	41	0	A			83912311	+1			no_errors	ENST00000446227	ensembl	human	known	74_37	rna	6.52	43	3	SNP	0.000	C
LOXL4	84171	genome.wustl.edu	37	10	100012168	100012168	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:100012168G>T	ENST00000260702.3	-	12	2043	c.1893C>A	c.(1891-1893)tcC>tcA	p.S631S	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	631	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGCCACCTTGGAGCCATTGA	0.552																																																	0													175.0	159.0	164.0					10																	100012168		2203	4300	6503	SO:0001819	synonymous_variant	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1893C>A	10.37:g.100012168G>T			Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.S631	ENST00000260702.3	37	c.1893	CCDS7473.1	10																																																																																			LOXL4	-	pfam_Lysyl_oxidase	ENSG00000138131		0.552	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	-	0.00	69	0	G	NM_032211		100012168	-1	tier1	-	no_errors	ENST00000260702	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.999	T
LRP4	4038	genome.wustl.edu	37	11	46912004	46912004	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:46912004T>C	ENST00000378623.1	-	14	1981	c.1739A>G	c.(1738-1740)gAg>gGg	p.E580G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	580					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTGGAGGCCTCAATACGGGG	0.547											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44.0	42.0	43.0					11																	46912004		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1739A>G	11.37:g.46912004T>C	ENSP00000367888:p.Glu580Gly	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E580G	ENST00000378623.1	37	c.1739	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	T	29.3	4.994726	0.93167	.	.	ENSG00000134569	ENST00000378623	D	0.95035	-3.59	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97169	0.9843	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	580	O75096	LRP4_HUMAN	G	580	ENSP00000367888:E580G	ENSP00000367888:E580G	E	-	2	0	LRP4	46868580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.308000	0.77769	0.533000	0.62120	GAG	LRP4	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0.00	24	0	T	NM_002334		46912004	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	C
LRRC10B	390205	genome.wustl.edu	37	11	61277317	61277317	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:61277317G>A	ENST00000378075.2	+	1	1046	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MIR4488_ENST00000577388.1_RNA	NM_001145077.1	NP_001138549.1	A6NIK2	LR10B_HUMAN	leucine rich repeat containing 10B	283																	CAGCTTCCGCGCCCTGGAAGC	0.672																																																	0													1.0	1.0	1.0					11																	61277317		136	365	501	SO:0001583	missense	0				CCDS44621.1	11q12.2	2009-09-08			ENSG00000204950	ENSG00000204950			37215	protein-coding gene	gene with protein product							Standard	NM_001145077		Approved		uc010rlk.2	A6NIK2		ENST00000378075.2:c.847G>A	11.37:g.61277317G>A	ENSP00000367315:p.Ala283Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A283T	ENST00000378075.2	37	c.847	CCDS44621.1	11	.	.	.	.	.	.	.	.	.	.	g	16.10	3.028151	0.54790	.	.	ENSG00000204950	ENST00000378075	T	0.58210	0.35	3.89	2.98	0.34508	.	.	.	.	.	T	0.29945	0.0749	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14839	-1.0458	9	0.14656	T	0.56	.	11.2542	0.49043	0.0893:0.0:0.9107:0.0	.	283	A6NIK2	LR10B_HUMAN	T	283	ENSP00000367315:A283T	ENSP00000367315:A283T	A	+	1	0	LRRC10B	61033893	0.004000	0.15560	0.738000	0.30950	0.949000	0.60115	0.018000	0.13422	0.854000	0.35336	0.550000	0.68814	GCC	LRRC10B	-	NULL	ENSG00000204950		0.672	LRRC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10B	HGNC	protein_coding	OTTHUMT00000398623.1		0.00	41	0	G	NM_001145077		61277317	+1			no_errors	ENST00000378075	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.111	A
LRRC7	57554	genome.wustl.edu	37	1	70226076	70226076	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:70226076G>T	ENST00000035383.5	+	1	219	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LRRC7_ENST00000310961.5_Splice_Site_p.K68N|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Splice_Site_p.K101N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACTACCCAAGGTAACTTTTG	0.358																																																	0													61.0	63.0	62.0					1																	70226076		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.189+1G>T	1.37:g.70226076G>T			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.K63N	ENST00000035383.5	37	c.189	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557524	0.65425	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.38560	1.88;1.13;1.83	5.75	5.75	0.90469	.	0.048575	0.85682	D	0.000000	T	0.37705	0.1013	N	0.16478	0.41	0.80722	D	1	B;P	0.51933	0.435;0.949	B;P	0.58620	0.199;0.842	T	0.37174	-0.9717	10	0.62326	D	0.03	.	18.5003	0.90878	0.0:0.0:1.0:0.0	.	63;101	Q96NW7;B1AKT2	LRRC7_HUMAN;.	N	68;101;63;63	ENSP00000309245:K68N;ENSP00000359997:K101N;ENSP00000035383:K63N	ENSP00000035383:K63N	K	+	3	2	LRRC7	69998664	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.869000	0.99810	2.721000	0.93114	0.585000	0.79938	AAG	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.358	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0.00	25	0	G	NM_020794	Missense_Mutation	70226076	+1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
LRRN4	164312	genome.wustl.edu	37	20	6022628	6022628	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:6022628C>T	ENST00000378858.4	-	5	1487	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	421					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CATCGCTGTGCGGCCATGCAG	0.682																																																	0													70.0	65.0	67.0					20																	6022628		2203	4300	6503	SO:0001819	synonymous_variant	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1263G>A	20.37:g.6022628C>T			A8K258|Q5JWV6|Q9H419	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P421	ENST00000378858.4	37	c.1263	CCDS13097.1	20																																																																																			LRRN4	-	NULL	ENSG00000125872		0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2		0.00	86	0	C	NM_152611		6022628	-1			no_errors	ENST00000378858	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	T
LYST	1130	genome.wustl.edu	37	1	235918868	235918868	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:235918868G>T	ENST00000389794.3	-	25	7313	c.7139C>A	c.(7138-7140)gCc>gAc	p.A2380D	LYST_ENST00000389793.2_Missense_Mutation_p.A2380D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2380					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACTGGTTGGCTAGCAAGGA	0.348																																																	0													176.0	178.0	177.0					1																	235918868		2203	4300	6503	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7139C>A	1.37:g.235918868G>T	ENSP00000374444:p.Ala2380Asp		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2380D	ENST00000389794.3	37	c.7139	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962355	0.92791	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.73897	-0.79;-0.79	5.3	5.3	0.74995	.	0.100672	0.64402	D	0.000002	D	0.86176	0.5870	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87465	0.2410	10	0.87932	D	0	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	2380	Q99698	LYST_HUMAN	D	2380	ENSP00000374444:A2380D;ENSP00000374443:A2380D	ENSP00000374443:A2380D	A	-	2	0	LYST	233985491	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.476000	0.97823	2.502000	0.84385	0.579000	0.79373	GCC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0.00	43	0	G			235918868	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
MAGEL2	54551	genome.wustl.edu	37	15	23889632	23889632	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:23889632G>T	ENST00000532292.1	-	1	1543	c.1449C>A	c.(1447-1449)gcC>gcA	p.A483A		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	366	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGATAATATAGGCGTGGTTTT	0.423																																																	0													92.0	86.0	88.0					15																	23889632		1886	4117	6003	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1449C>A	15.37:g.23889632G>T				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A483	ENST00000532292.1	37	c.1449		15	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420277	0.01136	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.78	-1.68	0.08212	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	.	9.0239	0.36218	0.5105:0.0:0.4894:0.0	.	.	.	.	H	515	.	.	P	-	2	0	MAGEL2	21440725	0.920000	0.31207	0.013000	0.15412	0.067000	0.16453	-0.163000	0.09997	-0.395000	0.07715	-0.600000	0.04104	CCT	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0.00	40	0	G	NM_019066		23889632	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.009	T
MAN2B2	23324	genome.wustl.edu	37	4	6612661	6612661	+	Missense_Mutation	SNP	G	G	T	rs142546556		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:6612661G>T	ENST00000285599.3	+	14	2350	c.2314G>T	c.(2314-2316)Gtg>Ttg	p.V772L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.V721L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	772					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V772M(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AAGCAGGCTTGTGTTGCTGTC	0.602																																																	1	Substitution - Missense(1)	prostate(1)											150.0	133.0	139.0					4																	6612661		2203	4300	6503	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2314G>T	4.37:g.6612661G>T	ENSP00000285599:p.Val772Leu		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.V772L	ENST00000285599.3	37	c.2314	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.563238|2.563238	0.45694|0.45694	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	D|T;T	0.87887|0.80033	-2.31|-1.33;-1.33	4.88|4.88	4.02|4.02	0.46733|0.46733	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|0.191506	.|0.44483	.|D	.|0.000458	D|D	0.84188|0.84188	0.5417|0.5417	M|M	0.80183|0.80183	2.485|2.485	0.41906|0.41906	D|D	0.990441|0.990441	.|P;D;P	.|0.55605	.|0.951;0.972;0.57	.|P;P;B	.|0.51701	.|0.583;0.677;0.198	D|D	0.85280|0.85280	0.1061|0.1061	7|10	0.52906|0.49607	T|T	0.07|0.09	-38.8349|-38.8349	10.1936|10.1936	0.43041|0.43041	0.1603:0.0:0.8397:0.0|0.1603:0.0:0.8397:0.0	.|.	.|721;772;772	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	F|L	770|772;721	ENSP00000426273:L770F|ENSP00000285599:V772L;ENSP00000423129:V721L	ENSP00000426273:L770F|ENSP00000285599:V772L	L|V	+|+	3|1	2|0	MAN2B2|MAN2B2	6663562|6663562	0.985000|0.985000	0.35326|0.35326	0.978000|0.978000	0.43139|0.43139	0.071000|0.071000	0.16799|0.16799	1.047000|1.047000	0.30367|0.30367	2.264000|2.264000	0.75181|0.75181	0.561000|0.561000	0.74099|0.74099	TTG|GTG	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000013288		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0.00	68	0	G	NM_015274		6612661	+1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.986	T
MAP2	4133	genome.wustl.edu	37	2	210559484	210559484	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:210559484C>T	ENST00000360351.4	+	7	3096	c.2590C>T	c.(2590-2592)Ctc>Ttc	p.L864F	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L860F	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	864					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)	GGACAGTCAGCTCGAAGACCT	0.468																																					Pancreas(27;423 979 28787 29963)												0													84.0	75.0	78.0					2																	210559484		2203	4300	6503	SO:0001583	missense	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.2590C>T	2.37:g.210559484C>T	ENSP00000353508:p.Leu864Phe		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.L864F	ENST00000360351.4	37	c.2590	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197070	0.58126	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27890	1.64;1.64	5.8	4.87	0.63330	MAP2/Tau projection (1);	0.120313	0.37761	N	0.001959	T	0.37892	0.1020	L	0.59436	1.845	0.37781	D	0.927026	P;P	0.38420	0.577;0.63	B;B	0.42495	0.269;0.389	T	0.45585	-0.9251	10	0.87932	D	0	-1.4661	15.684	0.77393	0.1376:0.8624:0.0:0.0	.	860;864	P11137-3;P11137	.;MAP2_HUMAN	F	864;860	ENSP00000353508:L864F;ENSP00000392164:L860F	ENSP00000353508:L864F	L	+	1	0	MAP2	210267729	1.000000	0.71417	0.955000	0.39395	0.924000	0.55760	2.120000	0.41968	2.752000	0.94435	0.650000	0.86243	CTC	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0.00	68	0	C	NM_001039538		210559484	+1			no_errors	ENST00000360351	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.972	T
MAPK14	1432	genome.wustl.edu	37	6	36020505	36020505	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:36020505G>T	ENST00000229794.4	+	2	534	c.146G>T	c.(145-147)cGt>cTt	p.R49L	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Missense_Mutation_p.R49L|MAPK14_ENST00000229795.3_Missense_Mutation_p.R49L	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACGGGGTTACGTGTGGCAGTG	0.373																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												0													121.0	119.0	119.0					6																	36020505		2203	4300	6503	SO:0001583	missense	0			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.146G>T	6.37:g.36020505G>T	ENSP00000229794:p.Arg49Leu		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38	p.R49L	ENST00000229794.4	37	c.146	CCDS4816.1	6	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929010	0.52759	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000310795	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064566	0.64402	D	0.000013	T	0.21841	0.0526	N	0.11201	0.11	0.80722	D	1	B;P;B;B;B	0.45827	0.041;0.867;0.391;0.003;0.394	B;B;B;B;B	0.33690	0.034;0.135;0.168;0.001;0.03	T	0.26395	-1.0104	10	0.87932	D	0	-8.2659	9.5692	0.39418	0.1611:0.0:0.8389:0.0	.	49;49;49;49;49	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	L	49	ENSP00000229795:R49L;ENSP00000229794:R49L;ENSP00000308669:R49L	ENSP00000229794:R49L	R	+	2	0	MAPK14	36128483	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	5.178000	0.65037	1.333000	0.45449	-0.145000	0.13849	CGT	MAPK14	-	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	ENSG00000112062		0.373	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	-	0.00	74	0	G	NM_001315		36020505	+1	tier1	-	no_errors	ENST00000229794	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
MAPK4	5596	genome.wustl.edu	37	18	48241545	48241545	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:48241545G>T	ENST00000400384.2	+	3	1679	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	MAPK4_ENST00000592595.1_Missense_Mutation_p.A215S|MAPK4_ENST00000540640.1_Missense_Mutation_p.A4S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CATGTGGGCCGCCGGCTGCAT	0.527																																																	0													103.0	101.0	102.0					18																	48241545		2022	4180	6202	SO:0001583	missense	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.643G>T	18.37:g.48241545G>T	ENSP00000383234:p.Ala215Ser		A1A4C4|Q0VG04	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_MAPK_ERK3/4	p.A215S	ENST00000400384.2	37	c.643	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.215551	0.95104	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.66280	-0.2;-0.2	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.78502	0.4293	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80574	-0.1322	10	0.87932	D	0	-17.3352	17.8414	0.88716	0.0:0.0:1.0:0.0	.	215;215	Q0VG04;P31152	.;MK04_HUMAN	S	215;4	ENSP00000383234:A215S;ENSP00000439231:A4S	ENSP00000383234:A215S	A	+	1	0	MAPK4	46495543	1.000000	0.71417	0.149000	0.22428	0.991000	0.79684	7.978000	0.88095	2.505000	0.84491	0.555000	0.69702	GCC	MAPK4	-	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	ENSG00000141639		0.527	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	-	0.00	115	0	G	NM_002747		48241545	+1	tier1	-	no_errors	ENST00000400384	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.999	T
MAPK8	5599	genome.wustl.edu	37	10	49632587	49632587	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:49632587G>T	ENST00000374189.1	+	7	869				MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGCATCATGGGAGAAATGATC	0.318																																																	0													199.0	184.0	189.0					10																	49632587		2203	4300	6503	SO:0001627	intron_variant	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+385G>T	10.37:g.49632587G>T			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.G216V	ENST00000374189.1	37	c.647	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605294	0.66445	.	.	ENSG00000107643	ENST00000374179;ENST00000374176	D;D	0.82081	-1.57;-1.57	5.68	5.68	0.88126	.	0.051570	0.85682	D	0.000000	D	0.88952	0.6577	L	0.45581	1.43	0.80722	D	1	D;D	0.65815	0.995;0.983	D;P	0.68943	0.961;0.899	D	0.89084	0.3478	10	0.87932	D	0	.	20.1412	0.98058	0.0:0.0:1.0:0.0	.	216;216	A1L4K2;P45983-3	.;.	V	216	ENSP00000363294:G216V;ENSP00000363291:G216V	ENSP00000363291:G216V	G	+	2	0	MAPK8	49302593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.920000	0.75799	2.838000	0.97847	0.585000	0.79938	GGA	MAPK8	-	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	ENSG00000107643		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	-	0.00	76	0	G			49632587	+1	tier1	-	no_errors	ENST00000374176	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T
MARS	4141	genome.wustl.edu	37	12	57910324	57910324	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:57910324G>T	ENST00000262027.5	+	21	2797	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	888	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAGCTGAGGGGAAACCCCCT	0.433																																																	0													56.0	55.0	55.0					12																	57910324		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2663G>T	12.37:g.57910324G>T	ENSP00000262027:p.Gly888Val		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.G888V	ENST00000262027.5	37	c.2663	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510943	0.64522	.	.	ENSG00000166986	ENST00000262027;ENST00000552914	T;T	0.51071	0.72;0.72	5.36	5.36	0.76844	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69676	-0.5081	10	0.20046	T	0.44	-13.1814	18.2434	0.89977	0.0:0.0:1.0:0.0	.	888	P56192	SYMC_HUMAN	V	888;207	ENSP00000262027:G888V;ENSP00000449787:G207V	ENSP00000262027:G888V	G	+	2	0	MARS	56196591	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.102000	0.77005	2.688000	0.91661	0.561000	0.74099	GGG	MARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000166986		0.433	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0.00	47	0	G	NM_004990		57910324	+1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
MAST2	23139	genome.wustl.edu	37	1	46497074	46497074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:46497074C>T	ENST00000361297.2	+	24	3287	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.R932*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TATGGAGACCCGAGGCCGTGG	0.657																																																	0													32.0	36.0	35.0					1																	46497074		2033	4173	6206	SO:0001587	stop_gained	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3004C>T	1.37:g.46497074C>T	ENSP00000354671:p.Arg1002*			Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1002*	ENST00000361297.2	37	c.3004	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.608233	0.98387	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	2.92	0.33932	.	0.359767	0.28476	N	0.015206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9648	13.6103	0.62074	0.4084:0.5916:0.0:0.0	.	.	.	.	X	1002;932	.	ENSP00000354671:R1002X	R	+	1	2	MAST2	46269661	0.017000	0.18338	0.550000	0.28217	0.394000	0.30568	0.273000	0.18662	0.293000	0.22520	-0.808000	0.03180	CGA	MAST2	-	NULL	ENSG00000086015		0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0.00	54	0	C	NM_015112		46497074	+1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	nonsense	14.81	22	4	SNP	0.295	T
MATN4	8785	genome.wustl.edu	37	20	43933120	43933120	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:43933120C>T	ENST00000372754.1	-	2	399	c.391G>A	c.(391-393)Gcg>Acg	p.A131T	MATN4_ENST00000353917.5_Missense_Mutation_p.A131T|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.A131T|MATN4_ENST00000342716.4_Missense_Mutation_p.A131T|MATN4_ENST00000372756.1_Missense_Mutation_p.A131T|MATN4_ENST00000360607.6_Missense_Mutation_p.A131T			O95460	MATN4_HUMAN	matrilin 4	131	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCGGTCGCGCGCCCTCGGCC	0.726																																																	0													10.0	9.0	9.0					20																	43933120		2155	4235	6390	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.391G>A	20.37:g.43933120C>T	ENSP00000361840:p.Ala131Thr		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.A131T	ENST00000372754.1	37	c.391		20	.	.	.	.	.	.	.	.	.	.	C	31	5.102792	0.94245	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.81	4.81	0.61882	.	0.000000	0.43919	D	0.000519	D	0.92779	0.7704	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.72625	0.909;0.978;0.863	D	0.93523	0.6863	10	0.59425	D	0.04	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	131;131;131	A6NNA4;O95460-4;O95460-2	.;.;.	T	131	ENSP00000361840:A131T;ENSP00000361842:A131T;ENSP00000243983:A131T;ENSP00000353819:A131T;ENSP00000343164:A131T;ENSP00000440328:A131T	ENSP00000255132:A131T	A	-	1	0	MATN4	43366534	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	2.506000	0.84524	0.462000	0.41574	GCG	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.726	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0.00	54	0	C			43933120	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T
MAU2	23383	genome.wustl.edu	37	19	19448017	19448017	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:19448017G>A	ENST00000392313.6	+	4	578	c.399G>A	c.(397-399)gcG>gcA	p.A133A	MAU2_ENST00000262815.8_Silent_p.A133A|MAU2_ENST00000586189.3_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	133					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCGGAAGGCGATCCAGATCT	0.552																																																	0													48.0	52.0	50.0					19																	19448017		1961	4145	6106	SO:0001819	synonymous_variant	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.399G>A	19.37:g.19448017G>A			Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.A133	ENST00000392313.6	37	c.399	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.552	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0.00	38	0	G	NM_015329		19448017	+1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.000	A
MDN1	23195	genome.wustl.edu	37	6	90398491	90398491	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:90398491A>G	ENST00000369393.3	-	66	11175	c.11060T>C	c.(11059-11061)cTt>cCt	p.L3687P	MDN1_ENST00000428876.1_Missense_Mutation_p.L3687P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3687					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGGCCAAAAGTTGGCTGCC	0.463																																																	0													61.0	53.0	55.0					6																	90398491		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11060T>C	6.37:g.90398491A>G	ENSP00000358400:p.Leu3687Pro		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L3687P	ENST00000369393.3	37	c.11060	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577255	0.45902	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04406	3.63;3.63	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.15219	0.0367	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00581	-1.1660	10	0.72032	D	0.01	.	15.6605	0.77182	1.0:0.0:0.0:0.0	.	3687	Q9NU22	MDN1_HUMAN	P	3687	ENSP00000358400:L3687P;ENSP00000413970:L3687P	ENSP00000358400:L3687P	L	-	2	0	MDN1	90455212	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	8.917000	0.92751	2.098000	0.63641	0.254000	0.18369	CTT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	42	0	A			90398491	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	G
MEGF8	1954	genome.wustl.edu	37	19	42860099	42860099	+	Missense_Mutation	SNP	G	G	T	rs138904325		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42860099G>T	ENST00000251268.6	+	24	4334	c.4334G>T	c.(4333-4335)cGc>cTc	p.R1445L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1378L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1445	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACACTGCCGCATGGCTCTG	0.662																																																	0								G	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	40.0	36.0	37.0		4133	3.7	1.0	19	dbSNP_134	37	0,8600		0,0,4300	no	missense	MEGF8	NM_001410.2	102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1378/2779	42860099	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4334G>T	19.37:g.42860099G>T	ENSP00000251268:p.Arg1445Leu		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R1445L	ENST00000251268.6	37	c.4334		19	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907388	0.52333	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20598	2.06;2.06	4.76	3.67	0.42095	Epidermal growth factor-like, type 3 (1);	0.159204	0.43747	D	0.000539	T	0.20981	0.0505	N	0.08118	0	0.80722	D	1	P;D	0.69078	0.874;0.997	B;P	0.58172	0.35;0.834	T	0.12915	-1.0529	10	0.40728	T	0.16	-32.2945	15.0908	0.72192	0.0:0.1551:0.8448:0.0	.	1445;1378	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	L	1378;1445	ENSP00000334219:R1378L;ENSP00000251268:R1445L	ENSP00000251268:R1445L	R	+	2	0	MEGF8	47551939	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.201000	0.51059	2.490000	0.84030	0.563000	0.77884	CGC	MEGF8	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000105429		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0.00	84	0	G	NM_001410		42860099	+1	tier1	rs138904325	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.998	T
MFF	56947	genome.wustl.edu	37	2	228195538	228195538	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:228195538G>T	ENST00000353339.3	+	4	676	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F	MFF_ENST00000476924.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.V53F|MFF_ENST00000392059.1_Missense_Mutation_p.V79F|MFF_ENST00000349901.7_Missense_Mutation_p.V53F|MFF_ENST00000409616.1_Missense_Mutation_p.V53F|MFF_ENST00000409565.1_Missense_Mutation_p.V53F|MFF_ENST00000354503.6_Missense_Mutation_p.V53F|MFF_ENST00000524634.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.V53F	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	79					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GATAATGCAAGTTCCGGAGAG	0.398																																																	0													89.0	79.0	83.0					2																	228195538		2203	4300	6503	SO:0001583	missense	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.235G>T	2.37:g.228195538G>T	ENSP00000302037:p.Val79Phe		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.V79F	ENST00000353339.3	37	c.235	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.208576	0.95069	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000418961;ENST00000392059	T;T	0.60920	0.15;0.15	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D;D	0.89917	0.998;0.995;0.992;0.946;1.0;0.999	D;D;P;P;D;D	0.79108	0.928;0.934;0.859;0.663;0.992;0.985	T	0.78046	-0.2357	10	0.87932	D	0	-30.6492	20.063	0.97692	0.0:0.0:1.0:0.0	.	53;53;53;53;53;79	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	F	53;79;53;53;53;53;53;53;53;79	ENSP00000302037:V79F;ENSP00000375912:V79F	ENSP00000304898:V53F	V	+	1	0	MFF	227903782	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	9.441000	0.97557	2.741000	0.93983	0.650000	0.86243	GTT	MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	-	0.00	42	0	G	NM_020194		228195538	+1	tier1	-	no_errors	ENST00000353339	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42003189	42003189	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:42003189G>T	ENST00000570161.1	+	7	2726	c.2726G>T	c.(2725-2727)gGc>gTc	p.G909V	MGA_ENST00000219905.7_Missense_Mutation_p.G909V|MGA_ENST00000545763.1_Missense_Mutation_p.G909V|MGA_ENST00000389936.4_Missense_Mutation_p.G909V|MGA_ENST00000566586.1_Missense_Mutation_p.G909V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTTCAGTGGCCGAACTAAA	0.393																																																	0													139.0	138.0	138.0					15																	42003189		1858	4101	5959	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2726G>T	15.37:g.42003189G>T	ENSP00000457035:p.Gly909Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G909V	ENST00000570161.1	37	c.2726	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360762	0.61403	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.14766	2.48;2.48;2.48	5.86	4.94	0.65067	.	0.889939	0.09892	N	0.742168	T	0.24084	0.0583	L	0.29908	0.895	0.50313	D	0.999862	D;D	0.76494	0.994;0.999	P;D	0.63033	0.891;0.91	T	0.00862	-1.1536	10	0.87932	D	0	.	10.1323	0.42687	0.0709:0.1371:0.792:0.0	.	909;909	F5H7K2;E7ENI0	.;.	V	909	ENSP00000219905:G909V;ENSP00000374586:G909V;ENSP00000442467:G909V	ENSP00000219905:G909V	G	+	2	0	MGA	39790481	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.880000	0.48530	1.486000	0.48398	0.655000	0.94253	GGC	MGA	-	NULL	ENSG00000174197		0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	29	0	G	NM_001164273.1		42003189	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	T
MIA3	375056	genome.wustl.edu	37	1	222794602	222794602	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:222794602G>T	ENST00000344922.5	+	2	260	c.235G>T	c.(235-237)Gca>Tca	p.A79S	MIA3_ENST00000344507.1_Missense_Mutation_p.A79S|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.A79S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	79	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTATAAACTGGCAAGAGGATG	0.373																																																	0													135.0	133.0	134.0					1																	222794602		1834	4091	5925	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.235G>T	1.37:g.222794602G>T	ENSP00000340900:p.Ala79Ser		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.A79S	ENST00000344922.5	37	c.235	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332317	0.60853	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	D;D;D	0.87887	-2.31;-2.31;-2.31	5.58	4.66	0.58398	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.81442	0.4823	N	0.16307	0.4	0.23930	N	0.996432	P	0.43788	0.817	P	0.47744	0.556	T	0.71111	-0.4687	9	0.39692	T	0.17	.	9.0349	0.36282	0.2124:0.0:0.7876:0.0	.	79	Q5JRA6	MIA3_HUMAN	S	79	ENSP00000340900:A79S;ENSP00000340587:A79S;ENSP00000341348:A79S	ENSP00000325973:A79S	A	+	1	0	MIA3	220861225	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.160000	0.50739	1.342000	0.45619	0.655000	0.94253	GCA	MIA3	-	pfam_SH3_2,superfamily_SH3_domain	ENSG00000154305		0.373	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0.00	100	0	G	NM_198551		222794602	+1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
MMP14	4323	genome.wustl.edu	37	14	23312566	23312566	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:23312566G>T	ENST00000311852.6	+	5	1050	c.789G>T	c.(787-789)tgG>tgT	p.W263C	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	263					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TTTACCAGTGGATGGACACGG	0.592																																																	0													112.0	109.0	110.0					14																	23312566		2203	4300	6503	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.789G>T	14.37:g.23312566G>T	ENSP00000308208:p.Trp263Cys		A8K5L0|Q6GSF3|Q92678	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.W263C	ENST00000311852.6	37	c.789	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677650	0.68042	.	.	ENSG00000157227	ENST00000311852	T	0.20463	2.07	5.54	4.64	0.57946	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.45396	-0.9264	10	0.44086	T	0.13	.	15.3961	0.74794	0.0:0.1401:0.8599:0.0	.	263	P50281	MMP14_HUMAN	C	263	ENSP00000308208:W263C	ENSP00000308208:W263C	W	+	3	0	MMP14	22382406	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.642000	0.74329	1.331000	0.45412	0.563000	0.77884	TGG	MMP14	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000157227		0.592	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0.00	53	0	G	NM_004995		23312566	+1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
MMRN2	79812	genome.wustl.edu	37	10	88703372	88703372	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:88703372C>T	ENST00000372027.5	-	6	1490	c.1169G>A	c.(1168-1170)aGg>aAg	p.R390K	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	390					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTCCTCCTCCCTGCGGGCCGT	0.642																																																	0													79.0	66.0	71.0					10																	88703372		2203	4300	6503	SO:0001583	missense	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1169G>A	10.37:g.88703372C>T	ENSP00000361097:p.Arg390Lys		Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.R390K	ENST00000372027.5	37	c.1169	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.054057	0.07362	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.70045	-0.45	4.96	3.11	0.35812	.	0.349055	0.24755	N	0.035868	T	0.58366	0.2117	M	0.71581	2.175	0.09310	N	1	P;P;B	0.38020	0.473;0.615;0.296	B;B;B	0.37047	0.24;0.158;0.045	T	0.45512	-0.9256	10	0.13853	T	0.58	-19.5355	6.6673	0.23047	0.1437:0.6992:0.0:0.157	.	168;329;390	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	K	390;168	ENSP00000361097:R390K	ENSP00000361097:R390K	R	-	2	0	MMRN2	88693352	0.889000	0.30405	0.080000	0.20451	0.100000	0.18952	0.838000	0.27572	0.501000	0.28013	0.462000	0.41574	AGG	MMRN2	-	NULL	ENSG00000173269		0.642	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0.00	104	0	C	NM_024756		88703372	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	missense	73.47	13	36	SNP	0.080	T
MOK	5891	genome.wustl.edu	37	14	102771349	102771349	+	5'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:102771349G>T	ENST00000361847.2	-	0	188				MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_5'UTR|MOK_ENST00000524214.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase						protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GACACTGGACGGAAAAGAAAG	0.622																																																	0													21.0	20.0	20.0					14																	102771349		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.-44C>A	14.37:g.102771349G>T			B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	RNA	SNP	-	NULL	ENST00000361847.2	37	NULL	CCDS9971.1	14																																																																																			MOK	-	-	ENSG00000080823		0.622	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	-	0.00	68	0	G			102771349	-1	tier1	-	no_errors	ENST00000521493	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.000	T
MPPED2	744	genome.wustl.edu	37	11	30557580	30557580	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:30557580C>T	ENST00000358117.5	-	2	393	c.271G>A	c.(271-273)Gga>Aga	p.G91R	MPPED2_ENST00000448418.2_Missense_Mutation_p.G91R	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	91					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GAGGGCAGTCCCAGCTCGGTG	0.512																																																	0													102.0	92.0	95.0					11																	30557580		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.271G>A	11.37:g.30557580C>T	ENSP00000350833:p.Gly91Arg		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.G91R	ENST00000358117.5	37	c.271	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988020	0.74589	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.88586	-2.4;-2.4	5.87	4.96	0.65561	Metallophosphoesterase domain (1);	0.100321	0.64402	D	0.000002	D	0.95655	0.8587	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96712	0.9526	10	0.87932	D	0	-6.4152	16.7771	0.85553	0.13:0.87:0.0:0.0	.	91;91	Q15777;E9PB10	MPPD2_HUMAN;.	R	91	ENSP00000388258:G91R;ENSP00000350833:G91R	ENSP00000350833:G91R	G	-	1	0	MPPED2	30514156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.610000	0.50200	0.655000	0.94253	GGA	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.512	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0.00	55	0	C	NM_001584		30557580	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T
MRPL13	28998	genome.wustl.edu	37	8	121426269	121426269	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:121426269G>T	ENST00000306185.3	-	6	767	c.476C>A	c.(475-477)aCa>aAa	p.T159K		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	159					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTTCTTGTGTGTACTCATC	0.343																																																	0													171.0	161.0	164.0					8																	121426269		2203	4300	6503	SO:0001583	missense	0			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.476C>A	8.37:g.121426269G>T	ENSP00000306548:p.Thr159Lys		B2R4R8|Q9UI04	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	p.T159K	ENST00000306185.3	37	c.476	CCDS6332.1	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029972	0.75504	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	6.16	5.29	0.74685	Ribosomal protein L13 domain (1);	0.087238	0.85682	D	0.000000	T	0.60011	0.2236	M	0.83603	2.65	0.53688	D	0.999977	P	0.44429	0.835	B	0.38378	0.272	T	0.67872	-0.5558	9	0.66056	D	0.02	-6.2535	12.5407	0.56167	0.077:0.0:0.923:0.0	.	159	Q9BYD1	RM13_HUMAN	K	159;135	.	ENSP00000306548:T159K	T	-	2	0	MRPL13	121495450	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.562000	0.60816	1.626000	0.50381	0.650000	0.86243	ACA	MRPL13	-	superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13	ENSG00000172172		0.343	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL13	HGNC	protein_coding	OTTHUMT00000381523.1		0.00	39	0	G	NM_014078		121426269	-1			no_errors	ENST00000306185	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T
MRPS2	51116	genome.wustl.edu	37	9	138395442	138395442	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:138395442G>T	ENST00000371785.1	+	5	563	c.354G>T	c.(352-354)ctG>ctT	p.L118L	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.L118L|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	118					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCATCGACCTGGAACAGACAG	0.587																																																	0													114.0	87.0	96.0					9																	138395442		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.354G>T	9.37:g.138395442G>T			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.L118	ENST00000371785.1	37	c.354	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	ENSG00000122140		0.587	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	-	0.00	21	0	G			138395442	+1	tier1	-	no_errors	ENST00000241600	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T
MRPS36	92259	genome.wustl.edu	37	5	68524115	68524115	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:68524115G>T	ENST00000256441.4	+	3	265	c.195G>T	c.(193-195)ctG>ctT	p.L65L	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	65					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		CAGATTTGCTGATGTATCAGG	0.363																																																	0													95.0	101.0	99.0					5																	68524115		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.195G>T	5.37:g.68524115G>T			Q9H2H4	Silent	SNP	NULL	p.L65	ENST00000256441.4	37	c.195	CCDS34174.1	5																																																																																			MRPS36	-	NULL	ENSG00000134056		0.363	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS36	HGNC	protein_coding	OTTHUMT00000368940.1	-	0.00	32	0	G	NM_033281		68524115	+1	tier1	-	no_errors	ENST00000256441	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.056	T
MRPS5	64969	genome.wustl.edu	37	2	95766223	95766223	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:95766223G>T	ENST00000272418.2	-	10	1135	c.927C>A	c.(925-927)ccC>ccA	p.P309P		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	309					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGTTACCTTTGGGTTGTTTCT	0.328																																																	0													156.0	164.0	161.0					2																	95766223		2203	4299	6502	SO:0001819	synonymous_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.927C>A	2.37:g.95766223G>T			Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.P309	ENST00000272418.2	37	c.927	CCDS2010.1	2																																																																																			MRPS5	-	pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000144029		0.328	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0.00	56	0	G	NM_031902		95766223	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	T
MT-ND1	4535	genome.wustl.edu	37	M	1202	1202	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrM:1202G>A	ENST00000361390.2	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TV_ENST00000387342.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCTCTAGAGGAGCCTGTTCT	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1202G>A	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.468	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	69	0	G	YP_003024026		1202	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	22.22	7	2	SNP	NULL	A
MT-ND1	4535	genome.wustl.edu	37	M	1273	1273	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrM:1273G>A	ENST00000361390.2	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TV_ENST00000387342.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGCCATCTTCAGCAAACCCT	0.493																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1273G>A	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.493	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	89	0	G	YP_003024026		1273	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	100.00	0	5	SNP	NULL	A
MT-ND4L	4539	genome.wustl.edu	37	M	10646	10646	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrM:10646G>A	ENST00000361335.1	+	1	177	c.177G>A	c.(175-177)gtG>gtA	p.V59V	MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	59					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						GCCAATATTGTGCCTATTGCC	0.468																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.177G>A	M.37:g.10646G>A				Silent	SNP	pfam_NADH_UbQ_OxRdtase_chain4L/K	p.V59	ENST00000361335.1	37	c.177		MT																																																																																			MT-ND4L	-	pfam_NADH_UbQ_OxRdtase_chain4L/K	ENSG00000212907		0.468	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4L	HGNC	protein_coding		-	0.00	113	0	G	YP_003024034		10646	+1	tier1	-	no_errors	ENST00000361335	ensembl	human	known	74_37	silent	87.50	1	7	SNP	NULL	A
MTIF2	4528	genome.wustl.edu	37	2	55464537	55464537	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:55464537G>T	ENST00000263629.4	-	15	2213	c.1898C>A	c.(1897-1899)tCt>tAt	p.S633Y	MTIF2_ENST00000403721.1_Missense_Mutation_p.S633Y|MTIF2_ENST00000394600.3_Missense_Mutation_p.S633Y	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	633					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTGTTACAGAGAAGGTAGC	0.363																																																	0													71.0	69.0	70.0					2																	55464537		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1898C>A	2.37:g.55464537G>T	ENSP00000263629:p.Ser633Tyr		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.S633Y	ENST00000263629.4	37	c.1898	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	1.310	-0.602342	0.03744	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.58940	0.3;0.3;0.3	5.35	3.52	0.40303	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.389936	0.29508	N	0.011951	T	0.57066	0.2028	M	0.84511	2.7	0.29168	N	0.877327	B	0.10296	0.003	B	0.10450	0.005	T	0.60047	-0.7339	10	0.72032	D	0.01	-3.6299	5.4633	0.16630	0.1509:0.0:0.5763:0.2728	.	633	P46199	IF2M_HUMAN	Y	633	ENSP00000384481:S633Y;ENSP00000263629:S633Y;ENSP00000378099:S633Y	ENSP00000263629:S633Y	S	-	2	0	MTIF2	55318041	0.758000	0.28405	0.951000	0.38953	0.842000	0.47809	0.122000	0.15687	1.382000	0.46385	0.557000	0.71058	TCT	MTIF2	-	superfamily_Transl_B-barrel	ENSG00000085760		0.363	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4		0.00	34	0	G	NM_002453		55464537	-1			no_errors	ENST00000263629	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.990	T
MTHFD2	10797	genome.wustl.edu	37	2	74432845	74432845	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:74432845G>T	ENST00000394053.2	+	2	195	c.115G>T	c.(115-117)Gtc>Ttc	p.V39F	MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V39F|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.V39F	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	39					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.V39F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TGAAGCTGTTGTCATTTCTGG	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)											47.0	48.0	48.0					2																	74432845		1887	4116	6003	SO:0001583	missense	0			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.115G>T	2.37:g.74432845G>T	ENSP00000377617:p.Val39Phe		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.V39F	ENST00000394053.2	37	c.115	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309738	0.40895	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.52057	1.66;0.68;1.65	4.73	1.95	0.26073	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.133347	0.52532	D	0.000080	T	0.59252	0.2180	M	0.80508	2.5	0.80722	D	1	P;P	0.50528	0.936;0.872	P;P	0.54590	0.756;0.691	T	0.59963	-0.7355	10	0.87932	D	0	.	8.4764	0.33016	0.2622:0.0:0.7378:0.0	.	39;39	B8ZZU9;P13995	.;MTDC_HUMAN	F	39	ENSP00000377617:V39F;ENSP00000386536:V39F;ENSP00000386542:V39F	ENSP00000377617:V39F	V	+	1	0	MTHFD2	74286353	0.993000	0.37304	0.872000	0.34217	0.300000	0.27592	2.135000	0.42112	0.182000	0.20032	-0.136000	0.14681	GTC	MTHFD2	-	pfam_THF_DH/CycHdrlase_cat_dom	ENSG00000065911		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2		0.00	47	0	G			74432845	+1			no_errors	ENST00000394053	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.757	T
MTOR	2475	genome.wustl.edu	37	1	11300513	11300513	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11300513G>T	ENST00000361445.4	-	11	1709	c.1633C>A	c.(1633-1635)Ctg>Atg	p.L545M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	545	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATAAGGACCAGGGACAGCATT	0.602																																																	0													205.0	174.0	184.0					1																	11300513		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1633C>A	1.37:g.11300513G>T	ENSP00000354558:p.Leu545Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L545M	ENST00000361445.4	37	c.1633	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832534	0.32421	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.30981	1.51	5.41	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.23370	0.0565	L	0.49571	1.57	0.80722	D	1	P	0.45902	0.868	B	0.39660	0.306	T	0.03034	-1.1080	10	0.28530	T	0.3	-3.7566	6.128	0.20189	0.1685:0.0:0.6828:0.1487	.	545	P42345	MTOR_HUMAN	M	545	ENSP00000354558:L545M	ENSP00000354558:L545M	L	-	1	2	MTOR	11223100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.297000	0.43593	0.587000	0.29643	0.650000	0.86243	CTG	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.602	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	113	0	G	NM_004958		11300513	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T
MUC15	143662	genome.wustl.edu	37	11	26582746	26582746	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:26582746G>T	ENST00000455601.2	-	4	989	c.871C>A	c.(871-873)Cct>Act	p.P291T	ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P318T|MUC15_ENST00000527569.1_Missense_Mutation_p.P268T|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P268T|MUC15_ENST00000436318.2_Missense_Mutation_p.P318T	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	291					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCATAAGGTTCCGGTGCA	0.378																																																	0													132.0	118.0	123.0					11																	26582746		2203	4300	6503	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.871C>A	11.37:g.26582746G>T	ENSP00000397339:p.Pro291Thr		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.P318T	ENST00000455601.2	37	c.952	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841512	0.71488	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.56103	0.55;0.48;0.56;0.48;0.56	5.43	4.47	0.54385	.	0.000000	0.49305	D	0.000142	T	0.61223	0.2330	L	0.29908	0.895	0.33870	D	0.634865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.70981	-0.4724	10	0.72032	D	0.01	-17.8666	15.0721	0.72046	0.0:0.0:0.8581:0.1419	.	268;291;318	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	T	291;318;268;318;268	ENSP00000397339:P291T;ENSP00000416753:P318T;ENSP00000281268:P268T;ENSP00000431983:P318T;ENSP00000431945:P268T	ENSP00000281268:P268T	P	-	1	0	MUC15	26539322	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.315000	0.43752	2.708000	0.92522	0.591000	0.81541	CCT	MUC15	-	NULL	ENSG00000169550		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1		0.00	37	0	G	NM_145650		26582746	-1			no_errors	ENST00000436318	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9049125	9049125	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:9049125G>T	ENST00000397910.4	-	5	32709	c.32506C>A	c.(32506-32508)Ccc>Acc	p.P10836T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10838	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTCCAGGGAACTGTTGGG	0.473																																																	0													153.0	138.0	143.0					19																	9049125		1951	4150	6101	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32506C>A	19.37:g.9049125G>T	ENSP00000381008:p.Pro10836Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P10836T	ENST00000397910.4	37	c.32506	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.128	0.021938	0.08006	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	3.1	-2.44	0.06502	.	.	.	.	.	T	0.03263	0.0095	N	0.24115	0.695	.	.	.	P	0.50819	0.939	P	0.44518	0.452	T	0.37384	-0.9708	8	0.87932	D	0	.	8.5913	0.33688	0.3153:0.0:0.6847:0.0	.	10836	B5ME49	.	T	10836	ENSP00000381008:P10836T	ENSP00000381008:P10836T	P	-	1	0	MUC16	8910125	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.229000	0.09098	-0.647000	0.05444	-0.383000	0.06682	CCC	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	93	0	G	NM_024690		9049125	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9061788	9061788	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:9061788G>T	ENST00000397910.4	-	3	25861	c.25658C>A	c.(25657-25659)cCc>cAc	p.P8553H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8555	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGGAAGGCTCGG	0.507																																																	0													66.0	67.0	67.0					19																	9061788		2002	4161	6163	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25658C>A	19.37:g.9061788G>T	ENSP00000381008:p.Pro8553His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8553H	ENST00000397910.4	37	c.25658	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.332	0.060962	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.26810	1.71	3.05	0.789	0.18607	.	.	.	.	.	T	0.19927	0.0479	N	0.19112	0.55	.	.	.	D	0.59767	0.986	P	0.50162	0.633	T	0.24154	-1.0168	8	0.87932	D	0	.	5.5148	0.16900	0.2724:0.0:0.7276:0.0	.	8553	B5ME49	.	H	8553	ENSP00000381008:P8553H	ENSP00000381008:P8553H	P	-	2	0	MUC16	8922788	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.571000	0.05889	0.300000	0.22699	0.450000	0.29827	CCC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	53	0	G	NM_024690		9061788	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T
MUC21	394263	genome.wustl.edu	37	6	30954063	30954063	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:30954063G>T	ENST00000376296.3	+	2	352	c.111G>T	c.(109-111)gtG>gtT	p.V37V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	37	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATCCAGTGTGATCTCCAGTG	0.488																																																	0													99.0	96.0	97.0					6																	30954063		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.111G>T	6.37:g.30954063G>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.V37	ENST00000376296.3	37	c.111	CCDS34388.1	6																																																																																			MUC21	-	NULL	ENSG00000204544		0.488	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0.00	90	0	G	NM_001010909		30954063	+1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T
MUSK	4593	genome.wustl.edu	37	9	113562836	113562836	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:113562836A>T	ENST00000374448.4	+	15	2312	c.2178A>T	c.(2176-2178)ttA>ttT	p.L726F	MUSK_ENST00000416899.2_Missense_Mutation_p.L718F|MUSK_ENST00000189978.5_Missense_Mutation_p.L726F	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCGAGATTTAGCCACCAGGA	0.542																																																	0													145.0	145.0	145.0					9																	113562836		1978	4161	6139	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2178A>T	9.37:g.113562836A>T	ENSP00000363571:p.Leu726Phe		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L726F	ENST00000374448.4	37	c.2178	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626624	0.66901	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.64991	-0.13	5.45	-5.43	0.02632	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.80813	0.4695	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84623	0.0685	10	0.87932	D	0	.	19.2359	0.93858	0.1826:0.0:0.8174:0.0	.	726	O15146	MUSK_HUMAN	F	732;726;726;640;640;724	ENSP00000363571:L726F	ENSP00000189978:L732F	L	+	3	2	MUSK	112602657	0.996000	0.38824	0.183000	0.23137	0.950000	0.60333	0.334000	0.19787	-0.957000	0.03627	-0.297000	0.09499	TTA	MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000030304		0.542	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding			0.00	36	0	A			113562836	+1			no_errors	ENST00000374448	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.868	T
MYH10	4628	genome.wustl.edu	37	17	8455418	8455418	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:8455418G>A	ENST00000269243.4	-	8	973	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	MYH10_ENST00000396239.1_Missense_Mutation_p.R279C|MYH10_ENST00000379980.4_Missense_Mutation_p.R295C|MYH10_ENST00000360416.3_Missense_Mutation_p.R289C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	279	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R279C(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGAAAAGTACGTTCATCTTTT	0.308																																																	1	Substitution - Missense(1)	endometrium(1)											47.0	49.0	48.0					17																	8455418		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.835C>T	17.37:g.8455418G>A	ENSP00000269243:p.Arg279Cys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R279C	ENST00000269243.4	37	c.835	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888591	0.52014	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	H	0.95645	3.7	0.80722	D	1	D;P;D	0.62365	0.991;0.642;0.991	P;B;P	0.61328	0.887;0.233;0.887	D	0.97634	1.0144	10	0.87932	D	0	.	11.9896	0.53168	0.0:0.0:0.7219:0.2781	.	288;289;279	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	279;289;279;295	ENSP00000269243:R279C;ENSP00000353590:R289C;ENSP00000379539:R279C;ENSP00000369315:R295C	ENSP00000269243:R279C	R	-	1	0	MYH10	8396143	0.997000	0.39634	0.948000	0.38648	0.982000	0.71751	2.442000	0.44873	2.458000	0.83093	0.655000	0.94253	CGT	MYH10	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133026		0.308	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2		0.00	73	0	G			8455418	-1			no_errors	ENST00000396239	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.996	A
MYL10	93408	genome.wustl.edu	37	7	101259547	101259547	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:101259547G>T	ENST00000223167.4	-	6	663	c.486C>A	c.(484-486)gcC>gcA	p.A162A		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	162	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACACTTTGAAGGCGTGGAGAA	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)												0													115.0	92.0	100.0					7																	101259547		2203	4300	6503	SO:0001819	synonymous_variant	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.486C>A	7.37:g.101259547G>T				Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A162	ENST00000223167.4	37	c.486	CCDS34713.1	7																																																																																			MYL10	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000106436		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	-	0.00	111	0	G	NM_138403		101259547	-1	tier1	-	no_errors	ENST00000223167	ensembl	human	known	74_37	silent	5.61	101	6	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18060519	18060519	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:18060519G>T	ENST00000205890.5	+	50	9101	c.8763G>T	c.(8761-8763)gaG>gaT	p.E2921D	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.E185D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2921	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCTGGAGGAGCTGCGACGTA	0.637																																																	0													35.0	46.0	42.0					17																	18060519		2071	4212	6283	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8763G>T	17.37:g.18060519G>T	ENSP00000205890:p.Glu2921Asp		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2921D	ENST00000205890.5	37	c.8763	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961323	0.34565	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.90133	-2.62	5.21	4.21	0.49690	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	D	0.88355	0.6414	L	0.46157	1.445	0.80722	D	1	P;B;B	0.39624	0.681;0.04;0.121	P;B;B	0.46685	0.524;0.046;0.111	D	0.86387	0.1733	9	0.62326	D	0.03	.	5.12	0.14856	0.0774:0.1477:0.6217:0.1532	.	120;185;2921	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	D	2921;120	ENSP00000205890:E2921D	ENSP00000205890:E2921D	E	+	3	2	MYO15A	18001244	1.000000	0.71417	0.997000	0.53966	0.661000	0.39034	2.649000	0.46656	1.143000	0.42306	0.561000	0.74099	GAG	MYO15A	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000091536		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	39	0	G	NM_016239		18060519	+1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
MYRIP	25924	genome.wustl.edu	37	3	40085745	40085745	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:40085745C>T	ENST00000302541.6	+	3	657	c.315C>T	c.(313-315)tgC>tgT	p.C105C	MYRIP_ENST00000444716.1_Silent_p.C105C|MYRIP_ENST00000425621.1_Silent_p.C105C|MYRIP_ENST00000396217.3_Missense_Mutation_p.A62V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	105	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGGTCTGCTGCGTCTGCCAGC	0.537																																																	0													65.0	61.0	62.0					3																	40085745		2203	4300	6503	SO:0001819	synonymous_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.315C>T	3.37:g.40085745C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.A62V	ENST00000302541.6	37	c.185	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531888	0.45073	.	.	ENSG00000170011	ENST00000396217	T	0.35236	1.32	5.51	-8.2	0.01045	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.42224	D	0.99186	B	0.06786	0.001	B	0.04013	0.001	T	0.15636	-1.0430	7	.	.	.	.	18.6671	0.91495	0.0:0.2092:0.0:0.7908	.	62	Q32M42	.	V	62	ENSP00000379519:A62V	.	A	+	2	0	MYRIP	40060749	0.003000	0.15002	0.457000	0.27056	0.939000	0.58152	-1.290000	0.02777	-1.899000	0.01098	-0.471000	0.05019	GCG	MYRIP	-	NULL	ENSG00000170011		0.537	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	-	0.00	43	0	C	NM_015460		40085745	+1	tier1	-	no_errors	ENST00000396217	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.296	T
MYRIP	25924	genome.wustl.edu	37	3	40299767	40299767	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:40299767G>T	ENST00000302541.6	+	0	3032				MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_3'UTR|MYRIP_ENST00000425621.1_3'UTR|MYRIP_ENST00000396217.3_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein						intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGAAGGCCTGGGGAGGCCAC	0.572																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.*110G>T	3.37:g.40299767G>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	RNA	SNP	-	NULL	ENST00000302541.6	37	NULL	CCDS2689.1	3																																																																																			MYRIP	-	-	ENSG00000170011		0.572	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	-	0.00	42	0	G	NM_015460		40299767	+1	tier1	-	no_errors	ENST00000459828	ensembl	human	known	74_37	rna	11.54	23	3	SNP	0.714	T
NADSYN1	55191	genome.wustl.edu	37	11	71166197	71166197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:71166197G>T	ENST00000319023.2	+	2	315	c.127G>T	c.(127-129)Gga>Tga	p.G43*	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	43	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	ATACAGGCTTGGACCAGAGCT	0.463																																					Ovarian(79;763 1781 6490 50276)												0													112.0	106.0	108.0					11																	71166197		2200	4294	6494	SO:0001587	stop_gained	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.127G>T	11.37:g.71166197G>T	ENSP00000326424:p.Gly43*		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.G43*	ENST00000319023.2	37	c.127	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.026568	0.97216	.	.	ENSG00000172890	ENST00000319023	.	.	.	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6081	12.3103	0.54925	0.0821:0.0:0.9179:0.0	.	.	.	.	X	43	.	ENSP00000326424:G43X	G	+	1	0	NADSYN1	70843845	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.670000	0.83925	1.386000	0.46466	-0.136000	0.14681	GGA	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase	ENSG00000172890		0.463	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	-	0.00	35	0	G	NM_018161		71166197	+1	tier1	-	no_errors	ENST00000319023	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36167537	36167537	+	Missense_Mutation	SNP	G	G	T	rs116439886	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:36167537G>T	ENST00000400445.3	+	47	7783	c.7249G>T	c.(7249-7251)Gtt>Ttt	p.V2417F	NBEA_ENST00000310336.4_Missense_Mutation_p.V2417F|NBEA_ENST00000540320.1_Missense_Mutation_p.V2417F|NBEA_ENST00000537702.1_Missense_Mutation_p.V210F|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000379939.2_Missense_Mutation_p.V2414F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2417	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTCTCATCCGTTGCAAGGTC	0.338																																																	0													141.0	128.0	132.0					13																	36167537		1838	4085	5923	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7249G>T	13.37:g.36167537G>T	ENSP00000383295:p.Val2417Phe		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V2417F	ENST00000400445.3	37	c.7249	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594486	0.66219	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.78	3.94	0.45596	BEACH domain (4);	0.161006	0.53938	D	0.000042	T	0.74581	0.3735	M	0.76938	2.355	0.49213	D	0.999767	P;B	0.46706	0.883;0.388	P;B	0.52881	0.712;0.139	T	0.75357	-0.3346	10	0.87932	D	0	.	9.5235	0.39149	0.184:0.0:0.816:0.0	.	2417;2414	Q8NFP9;Q5T321	NBEA_HUMAN;.	F	2417;2417;2414;2417;1044;210;210	ENSP00000440951:V2417F;ENSP00000383295:V2417F;ENSP00000369271:V2414F;ENSP00000308534:V2417F;ENSP00000440233:V210F	ENSP00000308534:V2417F	V	+	1	0	NBEA	35065537	1.000000	0.71417	0.018000	0.16275	0.933000	0.57130	3.580000	0.53907	0.673000	0.31224	0.557000	0.71058	GTT	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0.00	66	0	G	NM_015678		36167537	+1			no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.938	T
NCAM2	4685	genome.wustl.edu	37	21	22881293	22881293	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:22881293G>T	ENST00000400546.1	+	16	2448	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	NCAM2_ENST00000284894.7_Missense_Mutation_p.M591I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	733					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGTTGCTGATGTGCATCACTA	0.473																																																	0													132.0	123.0	126.0					21																	22881293		1976	4173	6149	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2199G>T	21.37:g.22881293G>T	ENSP00000383392:p.Met733Ile		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.M733I	ENST00000400546.1	37	c.2199	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778606	0.70107	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.60424	0.19;0.27	4.98	4.98	0.66077	.	0.103335	0.85682	D	0.000000	T	0.56171	0.1967	M	0.69823	2.125	0.80722	D	1	P;P	0.38922	0.651;0.501	B;B	0.30401	0.115;0.081	T	0.65911	-0.6053	10	0.72032	D	0.01	-29.2367	17.699	0.88289	0.0:0.0:1.0:0.0	.	591;733	B7Z5K2;O15394	.;NCAM2_HUMAN	I	733;591	ENSP00000383392:M733I;ENSP00000284894:M591I	ENSP00000284894:M591I	M	+	3	0	NCAM2	21803164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.327000	0.96396	2.689000	0.91719	0.643000	0.83706	ATG	NCAM2	-	NULL	ENSG00000154654		0.473	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0.00	53	0	G	NM_004540		22881293	+1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
NCAPD2	9918	genome.wustl.edu	37	12	6635628	6635628	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:6635628G>T	ENST00000315579.5	+	21	3380	c.2581G>T	c.(2581-2583)Gac>Tac	p.D861Y	NCAPD2_ENST00000545962.1_Missense_Mutation_p.D816Y|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	861					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGTCCACCCAGACCCACTCTG	0.552																																																	0													59.0	61.0	60.0					12																	6635628		2203	4300	6503	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2581G>T	12.37:g.6635628G>T	ENSP00000325017:p.Asp861Tyr		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.D861Y	ENST00000315579.5	37	c.2581	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405440	0.42715	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.92099	-2.97;-2.97;-2.97	5.03	5.03	0.67393	Armadillo-type fold (1);	0.196594	0.53938	D	0.000059	D	0.91590	0.7343	M	0.71581	2.175	0.51012	D	0.999907	P;B;B	0.36199	0.543;0.274;0.408	B;B;B	0.43225	0.412;0.092;0.11	D	0.91107	0.4919	10	0.72032	D	0.01	-27.2854	7.7283	0.28773	0.0885:0.0:0.7452:0.1662	.	816;822;861	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	Y	861;733;816;733	ENSP00000325017:D861Y;ENSP00000371895:D733Y;ENSP00000444417:D816Y	ENSP00000325017:D861Y	D	+	1	0	NCAPD2	6505889	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.030000	0.49720	2.608000	0.88229	0.655000	0.94253	GAC	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0.00	82	0	G	NM_014865		6635628	+1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
NDST4	64579	genome.wustl.edu	37	4	115769397	115769397	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:115769397G>T	ENST00000264363.2	-	9	2592	c.1914C>A	c.(1912-1914)ggC>ggA	p.G638G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	638	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GATAGTTGTTGCCATTAAAGA	0.338																																																	0													159.0	151.0	154.0					4																	115769397		2203	4298	6501	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1914C>A	4.37:g.115769397G>T			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G638	ENST00000264363.2	37	c.1914	CCDS3706.1	4																																																																																			NDST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138653		0.338	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0.00	66	0	G	NM_022569		115769397	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.114	T
NEB	4703	genome.wustl.edu	37	2	152550851	152550851	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:152550851T>G	ENST00000172853.10	-	20	2029	c.1882A>C	c.(1882-1884)Aaa>Caa	p.K628Q	NEB_ENST00000397345.3_Missense_Mutation_p.K628Q|NEB_ENST00000604864.1_Missense_Mutation_p.K628Q|NEB_ENST00000603639.1_Missense_Mutation_p.K628Q|NEB_ENST00000409198.1_Missense_Mutation_p.K628Q|NEB_ENST00000427231.2_Missense_Mutation_p.K628Q			P20929	NEBU_HUMAN	nebulin	628					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGGTTTTTGGCCACCTTC	0.413																																																	0													258.0	240.0	246.0					2																	152550851		1903	4123	6026	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1882A>C	2.37:g.152550851T>G	ENSP00000172853:p.Lys628Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K628Q	ENST00000172853.10	37	c.1882		2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941506	0.73557	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.9	4.72	0.59763	.	0.171458	0.41823	N	0.000818	T	0.61553	0.2356	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.909	T	0.60551	-0.7241	10	0.48119	T	0.1	.	11.0099	0.47657	0.0:0.0:0.1561:0.8439	.	261;628	Q86TG3;P20929	.;NEBU_HUMAN	Q	628	ENSP00000386259:K628Q;ENSP00000380505:K628Q;ENSP00000416578:K628Q;ENSP00000172853:K628Q	ENSP00000172853:K628Q	K	-	1	0	NEB	152259097	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.672000	0.61597	1.016000	0.39470	0.533000	0.62120	AAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.413	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	49	0	T	NM_004543		152550851	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	G
NEFM	4741	genome.wustl.edu	37	8	24772311	24772311	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:24772311C>T	ENST00000221166.5	+	1	1787	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Silent_p.R335R|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.R335R|NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	335	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTCGGTGCGCGGCACCAAGG	0.667																																																	0													13.0	14.0	14.0					8																	24772311		2203	4298	6501	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1005C>T	8.37:g.24772311C>T			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.R335	ENST00000221166.5	37	c.1005	CCDS6046.1	8																																																																																			NEFM	-	pfam_IF,prints_Keratin_I	ENSG00000104722		0.667	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	-	0.00	21	0	C	NM_005382		24772311	+1	tier1	-	no_errors	ENST00000221166	ensembl	human	known	74_37	silent	100.00	0	2	SNP	0.977	T
NEK6	10783	genome.wustl.edu	37	9	127110081	127110081	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:127110081G>T	ENST00000320246.5	+	9	956	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	NEK6_ENST00000373603.1_Missense_Mutation_p.G271W|NEK6_ENST00000546191.1_Missense_Mutation_p.G271W|NEK6_ENST00000540326.1_Missense_Mutation_p.G289W|NEK6_ENST00000394199.2_Missense_Mutation_p.G305W|NEK6_ENST00000539416.1_Missense_Mutation_p.G296W|NEK6_ENST00000545174.1_Missense_Mutation_p.G271W|NEK6_ENST00000373600.3_Missense_Mutation_p.G305W|AL137846.1_ENST00000583657.1_RNA	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCCACTCCCCGGGGAGCACTA	0.607																																					NSCLC(122;934 1785 18647 44295 45571)												0													104.0	109.0	107.0					9																	127110081		2203	4300	6503	SO:0001583	missense	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.811G>T	9.37:g.127110081G>T	ENSP00000319734:p.Gly271Trp		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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.G305W	ENST00000320246.5	37	c.913	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751618	0.31046	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.03	3.18	0.36537	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.474452	0.23036	N	0.052678	T	0.10637	0.0260	N	0.13272	0.32	0.09310	N	1	D;D;D;D	0.63880	0.988;0.993;0.957;0.978	P;D;P;P	0.64506	0.85;0.926;0.856;0.85	T	0.09250	-1.0683	10	0.62326	D	0.03	.	5.697	0.17861	0.1592:0.0:0.6825:0.1583	.	296;305;271;289	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	W	271;289;305;271;203;271;305;271;296	ENSP00000362705:G271W;ENSP00000441469:G289W;ENSP00000362702:G305W;ENSP00000319734:G271W;ENSP00000442636:G271W;ENSP00000377749:G305W;ENSP00000441426:G271W;ENSP00000439651:G296W	ENSP00000319734:G271W	G	+	1	0	NEK6	126149902	0.592000	0.26832	0.023000	0.16930	0.048000	0.14542	1.386000	0.34419	0.704000	0.31869	0.655000	0.94253	GGG	NEK6	-	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	ENSG00000119408		0.607	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1		0.00	52	0	G	NM_014397		127110081	+1			no_errors	ENST00000373600	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.011	T
NEK8	284086	genome.wustl.edu	37	17	27062333	27062333	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:27062333G>T	ENST00000268766.6	+	4	596	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACATCTGGGCCCTGGGCTG	0.577																																					NSCLC(6;19 293 14866 25253 49845)												0													58.0	53.0	55.0					17																	27062333		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.562G>T	17.37:g.27062333G>T	ENSP00000268766:p.Ala188Ser		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A188S	ENST00000268766.6	37	c.562	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.200220	0.97371	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.12255	2.7;2.7	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051156	0.85682	D	0.000000	T	0.11410	0.0278	N	0.04090	-0.28	0.80722	D	1	P	0.45634	0.863	P	0.49276	0.605	T	0.40496	-0.9560	10	0.15499	T	0.54	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	188	Q86SG6	NEK8_HUMAN	S	188	ENSP00000465859:A188S;ENSP00000268766:A188S	ENSP00000268766:A188S	A	+	1	0	NEK8	24086460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GCC	NEK8	-	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	ENSG00000160602		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0.00	66	0	G			27062333	+1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
NME5	8382	genome.wustl.edu	37	5	137474351	137474351	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:137474351G>T	ENST00000265191.2	-	2	168	c.119C>A	c.(118-120)aCc>aAc	p.T40N		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	40					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGAACAATGGTGAATCCGGA	0.363																																																	0													118.0	108.0	111.0					5																	137474351		2203	4300	6503	SO:0001583	missense	0			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.119C>A	5.37:g.137474351G>T	ENSP00000265191:p.Thr40Asn		B2R5G7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase	p.T40N	ENST00000265191.2	37	c.119	CCDS4197.1	5	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910171	0.33721	.	.	ENSG00000112981	ENST00000265191	T	0.55052	0.54	5.45	5.45	0.79879	.	0.315156	0.37530	N	0.002054	T	0.48677	0.1513	L	0.58302	1.8	0.32229	N	0.574175	B	0.32365	0.367	B	0.37550	0.253	T	0.57717	-0.7763	10	0.30078	T	0.28	.	8.1153	0.30940	0.0742:0.0:0.6513:0.2744	.	40	P56597	NDK5_HUMAN	N	40	ENSP00000265191:T40N	ENSP00000265191:T40N	T	-	2	0	NME5	137502250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.603000	0.36794	2.569000	0.86673	0.561000	0.74099	ACC	NME5	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5	ENSG00000112981		0.363	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1		0.00	56	0	G	NM_003551		137474351	-1			no_errors	ENST00000265191	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
NME8	51314	genome.wustl.edu	37	7	37923916	37923916	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:37923916C>T	ENST00000199447.4	+	13	1378	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	NME8_ENST00000440017.1_Missense_Mutation_p.R336C|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	336	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGATGTTTTGCGTATTATTAA	0.303																																																	0													82.0	79.0	80.0					7																	37923916		2203	4294	6497	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1006C>T	7.37:g.37923916C>T	ENSP00000199447:p.Arg336Cys		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R336C	ENST00000199447.4	37	c.1006	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	C	8.010	0.757219	0.15846	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.55760	0.5;0.5	3.95	-7.9	0.01169	.	2.988130	0.00839	N	0.001733	T	0.56217	0.1970	L	0.54323	1.7	0.09310	N	1	P	0.50819	0.939	P	0.53062	0.717	T	0.65809	-0.6078	10	0.59425	D	0.04	0.0213	8.6308	0.33917	0.2926:0.2311:0.4763:0.0	.	336	Q8N427	TXND3_HUMAN	C	336	ENSP00000199447:R336C;ENSP00000397063:R336C	ENSP00000199447:R336C	R	+	1	0	TXNDC3	37890441	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.848000	0.04326	-2.034000	0.00924	-1.081000	0.02215	CGT	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1		0.00	29	0	C	NM_016616		37923916	+1			no_errors	ENST00000199447	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.001	T
NOSTRIN	115677	genome.wustl.edu	37	2	169716090	169716090	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:169716090G>T	ENST00000317647.7	+	13	1351	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E296D|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E431D|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E431D|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E346D|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E296D|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E346D	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	374					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGAACTTGAGCAAAGACCTC	0.418																																																	0													142.0	134.0	137.0					2																	169716090		1902	4130	6032	SO:0001583	missense	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1122G>T	2.37:g.169716090G>T	ENSP00000318921:p.Glu374Asp		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.E431D	ENST00000317647.7	37	c.1293	CCDS42771.1	2	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730009	0.48939	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.39787	1.18;1.18;1.06;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	.	0.108515	0.64402	D	0.000011	T	0.33760	0.0874	L	0.40543	1.245	0.80722	D	1	B;P;B;B;B;B	0.42456	0.197;0.78;0.073;0.153;0.073;0.182	B;B;B;B;B;B	0.40982	0.09;0.345;0.027;0.057;0.023;0.113	T	0.04635	-1.0937	10	0.29301	T	0.29	-2.4406	10.2773	0.43519	0.0906:0.0:0.9094:0.0	.	346;296;431;268;374;431	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	D	431;431;374;296;296;346;346	ENSP00000402140:E431D;ENSP00000394051:E431D;ENSP00000318921:E374D;ENSP00000404413:E296D;ENSP00000380390:E296D;ENSP00000380392:E346D;ENSP00000401316:E346D	ENSP00000318921:E374D	E	+	3	2	NOSTRIN	169424336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.833000	0.39161	2.630000	0.89119	0.655000	0.94253	GAG	NOSTRIN	-	NULL	ENSG00000163072		0.418	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	-	0.00	86	0	G	NM_052946		169716090	+1	tier1	-	no_errors	ENST00000444448	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
NPAS1	4861	genome.wustl.edu	37	19	47539368	47539368	+	Silent	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:47539368T>G	ENST00000602212.1	+	6	889	c.669T>G	c.(667-669)ctT>ctG	p.L223L	NPAS1_ENST00000449844.2_Silent_p.L223L|NPAS1_ENST00000439365.2_Silent_p.L47L|NPAS1_ENST00000602189.1_Silent_p.L47L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	223					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		cctcttcGCTTGCAGATACCC	0.622											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7.0	8.0	7.0					19																	47539368		2170	4241	6411	SO:0001819	synonymous_variant	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.669T>G	19.37:g.47539368T>G		947	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.L223	ENST00000602212.1	37	c.669	CCDS12694.1	19																																																																																			NPAS1	-	NULL	ENSG00000130751		0.622	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	-	0.00	30	0	T	NM_002517		47539368	+1	tier1	-	no_errors	ENST00000449844	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.812	G
NPAS1	4861	genome.wustl.edu	37	19	47539377	47539377	+	Silent	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:47539377C>A	ENST00000602212.1	+	6	898	c.678C>A	c.(676-678)acC>acA	p.T226T	NPAS1_ENST00000449844.2_Silent_p.T226T|NPAS1_ENST00000439365.2_Silent_p.T50T|NPAS1_ENST00000602189.1_Silent_p.T50T			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	226					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TTGCAGATACCCCCGAGATCG	0.602											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6.0	7.0	7.0					19																	47539377		2160	4214	6374	SO:0001819	synonymous_variant	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.678C>A	19.37:g.47539377C>A		947	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.T226	ENST00000602212.1	37	c.678	CCDS12694.1	19																																																																																			NPAS1	-	NULL	ENSG00000130751		0.602	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	-	0.00	24	0	C	NM_002517		47539377	+1	tier1	-	no_errors	ENST00000449844	ensembl	human	known	74_37	silent	44.83	16	13	SNP	0.747	A
NR5A2	2494	genome.wustl.edu	37	1	200008904	200008904	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:200008904G>T	ENST00000367362.3	+	2	429	c.183G>T	c.(181-183)caG>caT	p.Q61H	NR5A2_ENST00000544748.1_5'Flank|NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	61					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q61H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACAGGGCCAGATGCCGGAAA	0.701																																					Melanoma(179;1138 2773 15678 26136)												1	Substitution - Missense(1)	lung(1)											31.0	37.0	35.0					1																	200008904		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.183G>T	1.37:g.200008904G>T	ENSP00000356331:p.Gln61His		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q61H	ENST00000367362.3	37	c.183	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238968	0.39598	.	.	ENSG00000116833	ENST00000367362	D	0.94046	-3.34	5.1	4.18	0.49190	.	0.313947	0.35207	N	0.003380	D	0.82765	0.5108	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.76729	-0.2852	9	.	.	.	.	9.5963	0.39576	0.0765:0.1398:0.7837:0.0	.	61	O00482	NR5A2_HUMAN	H	61	ENSP00000356331:Q61H	.	Q	+	3	2	NR5A2	198275527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.632000	0.46511	2.351000	0.79841	0.650000	0.86243	CAG	NR5A2	-	pirsf_Steroidogenic_factor_1	ENSG00000116833		0.701	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2		0.00	59	0	G			200008904	+1			no_errors	ENST00000367362	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
NUB1	51667	genome.wustl.edu	37	7	151065971	151065971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:151065971G>T	ENST00000355851.4	+	11	1323	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	NUB1_ENST00000568733.1_Nonsense_Mutation_p.E440*|NUB1_ENST00000413040.2_Nonsense_Mutation_p.E440*|NUB1_ENST00000566856.1_Nonsense_Mutation_p.E416*	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	416					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAACCGCAGAGAGGTACCCAC	0.488																																																	0													49.0	49.0	49.0					7																	151065971		1920	4124	6044	SO:0001587	stop_gained	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1246G>T	7.37:g.151065971G>T	ENSP00000348110:p.Glu416*		O95422|Q75MR9|Q8IX22|Q9BXR2	Nonsense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E440*	ENST00000355851.4	37	c.1318		7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	7.280190|7.280190|7.280190	0.98182|0.98182|0.98182	.|.|.	.|.|.	ENSG00000013374|ENSG00000013374|ENSG00000013374	ENST00000460712|ENST00000413040;ENST00000355851|ENST00000480714	.|.|.	.|.|.	.|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.104805|0.104805|.	0.64402|0.64402|.	D|D|.	0.000003|0.000003|.	T|.|T	0.78578|.|0.78578	0.4305|.|0.4305	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.81193|.|0.81193	-0.1044|.|-0.1044	4|.|4	.|0.31617|0.87932	.|T|D	.|0.26|0	-12.9999|-12.9999|-12.9999	18.3594|18.3594|18.3594	0.90370|0.90370|0.90370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	51|416|19	.|.|.	.|ENSP00000348110:E416X|ENSP00000419679:R19I	E|E|R	+|+|+	3|1|2	2|0|0	NUB1|NUB1|NUB1	150696904|150696904|150696904	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	5.396000|5.396000|5.396000	0.66297|0.66297|0.66297	2.564000|2.564000|2.564000	0.86499|0.86499|0.86499	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GAG|AGA	NUB1	-	superfamily_UBA-like	ENSG00000013374		0.488	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		-	0.00	46	0	G	NM_016118		151065971	+1	tier1	-	no_errors	ENST00000568733	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T
NXPE1	120400	genome.wustl.edu	37	11	114401556	114401556	+	Silent	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:114401556T>C	ENST00000424269.1	-	2	173	c.174A>G	c.(172-174)acA>acG	p.T58T	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Silent_p.T58T			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	58						extracellular region (GO:0005576)											GTATCAGTGATGTTTTAGGGA	0.408																																																	0																																										SO:0001819	synonymous_variant	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.174A>G	11.37:g.114401556T>C			B0YJ13	Silent	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.T58	ENST00000424269.1	37	c.174		11																																																																																			NXPE1	-	NULL	ENSG00000095110		0.408	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding		-	0.00	107	0	T	NM_152315		114401556	-1	tier1	-	no_errors	ENST00000424269	ensembl	human	known	74_37	silent	33.33	66	33	SNP	0.000	C
OFD1	8481	genome.wustl.edu	37	X	13778545	13778545	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:13778545G>T	ENST00000340096.6	+	16	2293	c.1966G>T	c.(1966-1968)Gtc>Ttc	p.V656F	OFD1_ENST00000380567.1_Missense_Mutation_p.V516F|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.V616F	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	656	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCATCGGAGAGTCATTAAAAA	0.473																																																	0													68.0	69.0	69.0					X																	13778545		2203	4300	6503	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1966G>T	X.37:g.13778545G>T	ENSP00000344314:p.Val656Phe		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.V656F	ENST00000340096.6	37	c.1966	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	22.9	4.350512	0.82132	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96651	-4.08;-4.06;-1.94	5.67	-2.99	0.05497	.	0.711847	0.13246	N	0.402456	D	0.94218	0.8144	M	0.62723	1.935	0.09310	N	0.999997	P;P;P;P;P	0.49090	0.919;0.919;0.919;0.919;0.919	P;P;P;P;P	0.49421	0.61;0.61;0.525;0.525;0.61	D	0.88060	0.2793	10	0.35671	T	0.21	0.5952	4.227	0.10585	0.499:0.098:0.301:0.1019	.	656;616;324;516;656	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	F	616;656;516	ENSP00000369923:V616F;ENSP00000344314:V656F;ENSP00000369941:V516F	ENSP00000344314:V656F	V	+	1	0	OFD1	13688466	0.680000	0.27605	0.000000	0.03702	0.709000	0.40893	0.439000	0.21575	-1.406000	0.02045	0.529000	0.55759	GTC	OFD1	-	NULL	ENSG00000046651		0.473	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1		0.00	30	0	G	NM_003611		13778545	+1			no_errors	ENST00000340096	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.129	T
OR11H4	390442	genome.wustl.edu	37	14	20711654	20711654	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:20711654delT	ENST00000315409.2	+	1	757	c.704delT	c.(703-705)gttfs	p.V235fs		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTAACAGCTGTTTTTCAGGTC	0.423																																																	0													239.0	231.0	234.0					14																	20711654		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.704delT	14.37:g.20711654delT	ENSP00000318997:p.Val235fs		B2RNQ4|Q6IF07	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q237fs	ENST00000315409.2	37	c.704	CCDS32034.1	14																																																																																			OR11H4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176198		0.423	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	HGNC	protein_coding	OTTHUMT00000410678.1		0.00	90	0	T			20711654	+1	tier1		no_errors	ENST00000315409	ensembl	human	known	74_37	frame_shift_del	26.97	65	24	DEL	1.000	-
OR51A4	401666	genome.wustl.edu	37	11	4967901	4967901	+	Missense_Mutation	SNP	C	C	T	rs372905416		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:4967901C>T	ENST00000380373.2	-	1	455	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423																																																	0								C	THR/ALA	3,4379	6.2+/-15.9	1,1,2189	224.0	227.0	226.0		430	-0.8	0.0	11		226	0,8540		0,0,4270	no	missense	OR51A4	NM_001005329.1	58	1,1,6459	TT,TC,CC		0.0,0.0685,0.0232	benign	144/314	4967901	3,12919	2191	4270	6461	SO:0001583	missense	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.430G>A	11.37:g.4967901C>T	ENSP00000369731:p.Ala144Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A144T	ENST00000380373.2	37	c.430	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619325	0.46736	6.85E-4	0.0	ENSG00000205497	ENST00000380373	T	0.37752	1.18	3.58	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25865	0.0630	L	0.50919	1.6	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.27872	-1.0061	9	0.25751	T	0.34	.	3.1406	0.06455	0.3168:0.4042:0.0:0.279	.	144	Q8NGJ6	O51A4_HUMAN	T	144	ENSP00000369731:A144T	ENSP00000369731:A144T	A	-	1	0	OR51A4	4924477	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-0.726000	0.04936	-0.276000	0.09206	0.580000	0.79431	GCC	OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205497		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1		0.00	31	0	C	NM_001005329		4967901	-1			no_errors	ENST00000380373	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	T
OR4C6	219432	genome.wustl.edu	37	11	55433334	55433334	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:55433334G>T	ENST00000314259.3	+	1	721	c.692G>T	c.(691-693)cGg>cTg	p.R231L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTAAAGGGCGGCACAAAGCC	0.507																																																	0													131.0	125.0	127.0					11																	55433334		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.692G>T	11.37:g.55433334G>T	ENSP00000324769:p.Arg231Leu		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R231L	ENST00000314259.3	37	c.692	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017225	0.19355	.	.	ENSG00000181903	ENST00000314259	T	0.00330	8.08	4.07	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.754623	0.10587	N	0.657205	T	0.00666	0.0022	M	0.86651	2.83	0.09310	N	1	P	0.48350	0.909	P	0.56127	0.792	T	0.40590	-0.9555	10	0.87932	D	0	.	8.2271	0.31575	0.3655:0.0:0.6345:0.0	.	231	Q8NH72	OR4C6_HUMAN	L	231	ENSP00000324769:R231L	ENSP00000324769:R231L	R	+	2	0	OR4C6	55189910	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.252000	0.08806	-0.080000	0.12685	-0.406000	0.06334	CGG	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181903		0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0.00	100	0	G	NM_001004704		55433334	+1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.002	T
OR5T2	219464	genome.wustl.edu	37	11	56000574	56000574	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:56000574A>C	ENST00000313264.4	-	1	163	c.88T>G	c.(88-90)Ttt>Gtt	p.F30V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATATGCATAAAGTTACAGTTC	0.353																																																	0													91.0	84.0	86.0					11																	56000574		2201	4295	6496	SO:0001583	missense	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.88T>G	11.37:g.56000574A>C	ENSP00000323688:p.Phe30Val		B9EGX5|Q6IFC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F30V	ENST00000313264.4	37	c.88	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	A	9.159	1.018234	0.19355	.	.	ENSG00000181718	ENST00000313264	T	0.00640	6.03	2.95	-3.58	0.04597	.	.	.	.	.	T	0.00412	0.0013	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47142	-0.9140	9	0.62326	D	0.03	.	0.7715	0.01024	0.4147:0.164:0.2605:0.1608	.	30	Q8NGG2	OR5T2_HUMAN	V	30	ENSP00000323688:F30V	ENSP00000323688:F30V	F	-	1	0	OR5T2	55757150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.030000	0.12308	-0.720000	0.04935	-0.850000	0.03035	TTT	OR5T2	-	NULL	ENSG00000181718		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0.00	45	0	A	NM_001004746		56000574	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	39.39	20	13	SNP	0.000	C
OSBPL1A	114876	genome.wustl.edu	37	18	21761133	21761133	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:21761133G>T	ENST00000319481.3	-	19	1994	c.1788C>A	c.(1786-1788)ctC>ctA	p.L596L	OSBPL1A_ENST00000399443.3_Silent_p.L83L|OSBPL1A_ENST00000357041.4_Silent_p.L214L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	596					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L596L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CAGGATCAGAGAGTGAACTGG	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)											110.0	85.0	94.0					18																	21761133		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1788C>A	18.37:g.21761133G>T			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L596	ENST00000319481.3	37	c.1788	CCDS11884.1	18																																																																																			OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0.00	38	0	G	NM_080597		21761133	-1			no_errors	ENST00000319481	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.000	T
OSBPL5	114879	genome.wustl.edu	37	11	3123435	3123435	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:3123435C>G	ENST00000263650.7	-	12	1562	c.1403G>C	c.(1402-1404)cGc>cCc	p.R468P	OSBPL5_ENST00000542243.1_Missense_Mutation_p.R99P|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R400P|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R400P|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R379P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	468					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTAGAATGTGCGGCTGTCAGT	0.632																																																	0													51.0	42.0	45.0					11																	3123435		2201	4297	6498	SO:0001583	missense	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1403G>C	11.37:g.3123435C>G	ENSP00000263650:p.Arg468Pro		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R468P	ENST00000263650.7	37	c.1403	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928988	0.34002	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	3.82	1.5	0.22942	.	0.209101	0.42821	D	0.000644	T	0.48554	0.1506	M	0.85777	2.775	0.25041	N	0.991202	P;P;D;B	0.53151	0.86;0.94;0.958;0.078	P;P;P;P	0.57911	0.829;0.829;0.763;0.546	T	0.40515	-0.9559	10	0.66056	D	0.02	-21.2792	7.346	0.26664	0.0:0.189:0.0:0.811	.	379;429;400;468	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	P	468;400;21;379;99;400;87	ENSP00000263650:R468P;ENSP00000374639:R400P;ENSP00000431412:R21P;ENSP00000433342:R379P;ENSP00000441551:R99P;ENSP00000302872:R400P	ENSP00000263650:R468P	R	-	2	0	OSBPL5	3080011	0.908000	0.30866	0.996000	0.52242	0.048000	0.14542	1.067000	0.30616	0.115000	0.18071	-0.339000	0.08088	CGC	OSBPL5	-	pfam_Oxysterol-bd	ENSG00000021762		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	-	0.00	43	0	C			3123435	-1	tier1	-	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	62.50	12	20	SNP	0.999	G
P2RX7	5027	genome.wustl.edu	37	12	121603953	121603953	+	Missense_Mutation	SNP	G	G	T	rs200108827		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:121603953G>T	ENST00000546057.1	+	7	850	c.707G>T	c.(706-708)cGa>cTa	p.R236L	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.R146L|P2RX7_ENST00000328963.5_Missense_Mutation_p.R66L|P2RX7_ENST00000377162.2_Intron	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	236					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACATCTTCCGAGAAACAGGC	0.468																																																	0													250.0	246.0	247.0					12																	121603953		2203	4300	6503	SO:0001583	missense	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.707G>T	12.37:g.121603953G>T	ENSP00000442349:p.Arg236Leu		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R236L	ENST00000546057.1	37	c.707	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232806	0.58777	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	T;T;T	0.04551	3.6;3.6;3.6	5.28	-5.06	0.02946	.	0.767566	0.11554	N	0.552459	T	0.09468	0.0233	M	0.65975	2.015	0.50632	D	0.99988	B;P;P	0.39696	0.366;0.558;0.683	B;B;P	0.45856	0.062;0.198;0.495	T	0.20174	-1.0283	10	0.66056	D	0.02	.	13.2373	0.59976	0.7145:0.0:0.2855:0.0	.	66;146;236	F8W951;F5H7E8;Q99572	.;.;P2RX7_HUMAN	L	236;66;146	ENSP00000442349:R236L;ENSP00000330696:R66L;ENSP00000442572:R146L	ENSP00000330696:R66L	R	+	2	0	P2RX7	120088336	0.034000	0.19679	0.552000	0.28243	0.994000	0.84299	-0.561000	0.05957	-0.923000	0.03785	0.563000	0.77884	CGA	P2RX7	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000089041		0.468	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	-	0.00	42	0	G	NM_002562		121603953	+1	tier1	-	no_errors	ENST00000546057	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.617	T
PABPC3	5042	genome.wustl.edu	37	13	25672221	25672221	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:25672221C>A	ENST00000281589.3	+	1	1922	c.1885C>A	c.(1885-1887)Cca>Aca	p.P629T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	629					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.P629T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TACCGGTGTTCCAACTGTTTA	0.398																																																	1	Substitution - Missense(1)	lung(1)											89.0	96.0	93.0					13																	25672221		2203	4298	6501	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1885C>A	13.37:g.25672221C>A	ENSP00000281589:p.Pro629Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P629T	ENST00000281589.3	37	c.1885	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782714	0.31502	.	.	ENSG00000151846	ENST00000281589	T	0.27557	1.66	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.144057	0.30185	U	0.010220	T	0.25382	0.0617	M	0.62723	1.935	0.49915	D	0.999832	B	0.02656	0.0	B	0.04013	0.001	T	0.06899	-1.0801	10	0.25106	T	0.35	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	629	Q9H361	PABP3_HUMAN	T	629	ENSP00000281589:P629T	ENSP00000281589:P629T	P	+	1	0	PABPC3	24570221	0.999000	0.42202	0.914000	0.36105	0.281000	0.26958	0.790000	0.26900	0.759000	0.33084	0.313000	0.20887	CCA	PABPC3	-	superfamily_PABP_HYD	ENSG00000151846		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0.00	55	0	C	NM_030979		25672221	+1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A
PADI2	11240	genome.wustl.edu	37	1	17409070	17409070	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:17409070G>T	ENST00000375486.4	-	10	1191	c.1128C>A	c.(1126-1128)aaC>aaA	p.N376K	PADI2_ENST00000375481.1_Missense_Mutation_p.N376K|PADI2_ENST00000444885.2_Missense_Mutation_p.N260K|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	376					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGTCCTTTAGGTTTCCATCTC	0.542																																																	0													80.0	77.0	78.0					1																	17409070		2203	4300	6503	SO:0001583	missense	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1128C>A	1.37:g.17409070G>T	ENSP00000364635:p.Asn376Lys		Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.N376K	ENST00000375486.4	37	c.1128	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	2.888	-0.230373	0.05983	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.21191	2.02;2.02;2.02	4.73	1.75	0.24633	Protein-arginine deiminase, C-terminal (1);	0.471897	0.24470	N	0.038257	T	0.07098	0.0180	N	0.01705	-0.755	0.32007	N	0.602612	B;B	0.22683	0.073;0.0	B;B	0.25987	0.065;0.001	T	0.19031	-1.0318	10	0.27785	T	0.31	-27.02	6.199	0.20565	0.176:0.413:0.411:0.0	.	260;376	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	376;260;376	ENSP00000364635:N376K;ENSP00000405894:N260K;ENSP00000364630:N376K	ENSP00000364630:N376K	N	-	3	2	PADI2	17281657	0.000000	0.05858	0.974000	0.42286	0.084000	0.17831	-0.881000	0.04179	0.292000	0.22492	-0.145000	0.13849	AAC	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.542	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1		0.00	20	0	G			17409070	-1			no_errors	ENST00000375486	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.855	T
PAPOLG	64895	genome.wustl.edu	37	2	61014108	61014108	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:61014108G>T	ENST00000238714.3	+	14	1442	c.1193G>T	c.(1192-1194)cGt>cTt	p.R398L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	398		Interaction with RNA. {ECO:0000250}.			mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCTAAAATCCGTGTACTTGTT	0.343																																					GBM(183;1497 2932 21839 46797)												0													161.0	163.0	162.0					2																	61014108		2203	4300	6503	SO:0001583	missense	0			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1193G>T	2.37:g.61014108G>T	ENSP00000238714:p.Arg398Leu		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.R398L	ENST00000238714.3	37	c.1193	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.302164	0.95601	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.36	5.36	0.76844	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.994;0.996	D	0.89511	0.3771	9	0.87932	D	0	-34.167	19.0542	0.93056	0.0:0.0:1.0:0.0	.	87;398	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	L	398;87;66	.	ENSP00000238714:R398L	R	+	2	0	PAPOLG	60867612	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.601000	0.98297	2.656000	0.90262	0.655000	0.94253	CGT	PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	ENSG00000115421		0.343	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3		0.00	28	0	G	NM_022894		61014108	+1			no_errors	ENST00000238714	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55568657	55568657	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:55568657G>T	ENST00000395445.1	-	36	5547	c.5153C>A	c.(5152-5154)cCt>cAt	p.P1718H	PCDH15_ENST00000395446.1_Missense_Mutation_p.P914H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P652H|PCDH15_ENST00000395442.1_Missense_Mutation_p.P583H|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCCTCTTCAGGGATATCTTG	0.468										HNSCC(58;0.16)																																							0													112.0	89.0	96.0					10																	55568657		1568	3579	5147	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5153C>A	10.37:g.55568657G>T	ENSP00000378832:p.Pro1718His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1718H	ENST00000395445.1	37	c.5153		10	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789300	0.31685	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	2.24	0.28232	.	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.25140	0.058;0.058	T	0.38672	-0.9650	9	0.87932	D	0	.	2.0562	0.03582	0.1745:0.1556:0.5094:0.1605	.	1716;1718	C6ZEF5;A2A3E2	.;.	H	1718;914;583;652	ENSP00000378832:P1718H;ENSP00000378833:P914H;ENSP00000378829:P583H;ENSP00000378827:P652H	ENSP00000378827:P652H	P	-	2	0	PCDH15	55238663	0.004000	0.15560	0.026000	0.17262	0.039000	0.13416	1.251000	0.32862	1.309000	0.44985	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	-	0.00	109	0	G	NM_033056		55568657	-1	tier1	-	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	6.74	83	6	SNP	0.000	T
PCDH17	27253	genome.wustl.edu	37	13	58207353	58207353	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:58207353G>A	ENST00000377918.3	+	1	699	c.673G>A	c.(673-675)Gcc>Acc	p.A225T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	225	Cadherin 2. {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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCACGTTCCGCCACCGTACA	0.597																																					Melanoma(72;952 1291 1619 12849 33676)												0													53.0	47.0	49.0					13																	58207353		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.673G>A	13.37:g.58207353G>A	ENSP00000367151:p.Ala225Thr		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A225T	ENST00000377918.3	37	c.673	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974255	0.74246	.	.	ENSG00000118946	ENST00000377918	T	0.51071	0.72	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.101519	0.64402	D	0.000002	T	0.41743	0.1172	N	0.20530	0.585	0.53688	D	0.999976	P;P	0.51653	0.947;0.908	P;P	0.47864	0.559;0.466	T	0.21177	-1.0253	9	.	.	.	.	18.2082	0.89861	0.0:0.0:1.0:0.0	.	225;225	O14917-2;O14917	.;PCD17_HUMAN	T	225	ENSP00000367151:A225T	.	A	+	1	0	PCDH17	57105354	1.000000	0.71417	0.973000	0.42090	0.863000	0.49368	9.657000	0.98554	2.558000	0.86282	0.650000	0.86243	GCC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0.00	37	0	G	NM_001040429		58207353	+1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	A
PCDHA2	56146	genome.wustl.edu	37	5	140176802	140176802	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:140176802G>A	ENST00000526136.1	+	1	2253	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHA2_ENST00000378132.1_Silent_p.S751S|PCDHA2_ENST00000520672.2_Silent_p.S751S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	751	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672																																																	0													43.0	47.0	46.0					5																	140176802		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2253G>A	5.37:g.140176802G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S751	ENST00000526136.1	37	c.2253	CCDS54914.1	5																																																																																			PCDHA2	-	NULL	ENSG00000204969		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0.00	76	0	G	NM_018905		140176802	+1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	60.00	10	15	SNP	0.588	A
PCDHGB1	56104	genome.wustl.edu	37	5	140730999	140730999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:140730999delA	ENST00000523390.1	+	1	1172	c.1172delA	c.(1171-1173)gaafs	p.E391fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	391	Cadherin 4. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAATTAGAATCCACCTCG	0.463																																																	0													57.0	58.0	57.0					5																	140730999		1920	4135	6055	SO:0001589	frameshift_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1172delA	5.37:g.140730999delA	ENSP00000429273:p.Glu391fs		Q3SY75|Q9Y5C8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E391fs	ENST00000523390.1	37	c.1172	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.463	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1		0.00	22	0	A	NM_018922		140730999	+1	tier1		no_errors	ENST00000523390	ensembl	human	known	74_37	frame_shift_del	66.67	7	14	DEL	0.018	-
PDCD4	27250	genome.wustl.edu	37	10	112649298	112649298	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:112649298G>T	ENST00000280154.7	+	7	1059	c.785G>T	c.(784-786)gGc>gTc	p.G262V	PDCD4_ENST00000393104.2_Missense_Mutation_p.G251V|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	262	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAGTTGGTGGGCCAGTTTATT	0.303																																					Ovarian(115;1498 1603 9363 40056 40885)												0													151.0	169.0	162.0					10																	112649298		2203	4300	6503	SO:0001583	missense	0			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.785G>T	10.37:g.112649298G>T	ENSP00000280154:p.Gly262Val		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.G262V	ENST00000280154.7	37	c.785	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566132	0.86439	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.34072	1.38;1.38	5.88	5.88	0.94601	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.81341	2.54	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.981	T	0.67444	-0.5669	10	0.87932	D	0	-7.4803	20.2405	0.98372	0.0:0.0:1.0:0.0	.	248;262;251	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	V	262;251	ENSP00000280154:G262V;ENSP00000376816:G251V	ENSP00000280154:G262V	G	+	2	0	PDCD4	112639288	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.444000	0.97578	2.797000	0.96272	0.561000	0.74099	GGC	PDCD4	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	ENSG00000150593		0.303	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	-	0.00	22	0	G	NM_014456		112649298	+1	tier1	-	no_errors	ENST00000280154	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	T
PDE2A	5138	genome.wustl.edu	37	11	72342134	72342134	+	Intron	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:72342134G>A	ENST00000334456.5	-	2	390				PDE2A_ENST00000540380.1_Intron|PDE2A_ENST00000444035.2_Intron|PDE2A_ENST00000540345.1_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Intron|PDE2A_ENST00000418754.2_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCAGTCGGTCGTCTCTACTCC	0.647																																																	0																																										SO:0001627	intron_variant	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.144+11163C>T	11.37:g.72342134G>A			B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	NULL	p.T58M	ENST00000334456.5	37	c.173	CCDS8216.1	11																																																																																			PDE2A	-	NULL	ENSG00000186642		0.647	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0.00	37	0	G	NM_002599		72342134	-1	tier1	-	no_errors	ENST00000539367	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.536	A
PDE4D	5144	genome.wustl.edu	37	5	58270610	58270610	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:58270610G>T	ENST00000340635.6	-	15	2486	c.2311C>A	c.(2311-2313)Caa>Aaa	p.Q771K	PDE4D_ENST00000507116.1_Missense_Mutation_p.Q707K|PDE4D_ENST00000503258.1_Missense_Mutation_p.Q641K|PDE4D_ENST00000546160.1_Missense_Mutation_p.Q710K|PDE4D_ENST00000358923.6_Missense_Mutation_p.Q469K|PDE4D_ENST00000502484.2_Missense_Mutation_p.Q710K|PDE4D_ENST00000317118.8_Missense_Mutation_p.Q480K|PDE4D_ENST00000405755.2_Missense_Mutation_p.Q649K|PDE4D_ENST00000360047.5_Missense_Mutation_p.Q635K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	771					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTGAGTCTTGAGTACAAAGA	0.473																																																	0													256.0	258.0	257.0					5																	58270610		1955	4150	6105	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2311C>A	5.37:g.58270610G>T	ENSP00000345502:p.Gln771Lys		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.Q771K	ENST00000340635.6	37	c.2311	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041214	0.19669	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.11;-0.12;0.09;0.09;-0.11;-0.11;-0.11;-0.11	5.22	5.22	0.72569	.	0.221237	0.47852	D	0.000207	T	0.64080	0.2566	N	0.22421	0.69	0.58432	D	0.999997	P;P;P;P;P;P;P;B	0.43578	0.811;0.713;0.811;0.811;0.811;0.811;0.811;0.091	P;P;P;P;P;P;P;B	0.60789	0.879;0.761;0.879;0.879;0.879;0.879;0.828;0.021	T	0.53322	-0.8455	10	0.06099	T	0.92	.	18.9581	0.92668	0.0:0.0:1.0:0.0	.	710;771;707;634;649;641;546;480	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	K	771;640;635;707;469;480;641;649;710;710	ENSP00000345502:Q771K;ENSP00000353152:Q635K;ENSP00000424852:Q707K;ENSP00000351800:Q469K;ENSP00000321739:Q480K;ENSP00000425605:Q641K;ENSP00000384806:Q649K;ENSP00000423094:Q710K;ENSP00000442734:Q710K	ENSP00000321739:Q480K	Q	-	1	0	PDE4D	58306367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.975000	0.93437	2.728000	0.93425	0.655000	0.94253	CAA	PDE4D	-	NULL	ENSG00000113448		0.473	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0.00	66	0	G			58270610	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
PDE8B	8622	genome.wustl.edu	37	5	76708044	76708044	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:76708044G>T	ENST00000264917.5	+	16	1741	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	PDE8B_ENST00000333194.4_Missense_Mutation_p.A511S|PDE8B_ENST00000346042.3_Missense_Mutation_p.A469S|PDE8B_ENST00000505283.1_Missense_Mutation_p.A31S|PDE8B_ENST00000342343.4_Missense_Mutation_p.A546S|PDE8B_ENST00000340978.3_Missense_Mutation_p.A519S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	566					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TGAATTGGAAGCCATTACGCA	0.428																																																	0													155.0	135.0	142.0					5																	76708044		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1696G>T	5.37:g.76708044G>T	ENSP00000264917:p.Ala566Ser		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.A566S	ENST00000264917.5	37	c.1696	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971340	0.53614	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.68	2.86	0.33363	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.202471	0.51477	N	0.000082	T	0.73241	0.3562	L	0.55743	1.74	0.53005	D	0.999966	B;B;B;B;B	0.32968	0.281;0.266;0.392;0.266;0.174	B;B;P;B;B	0.44946	0.39;0.215;0.465;0.215;0.107	T	0.63180	-0.6695	10	0.21014	T	0.42	.	9.7622	0.40539	0.0656:0.0:0.6834:0.251	.	469;519;511;546;566	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	519;469;566;546;511;31	ENSP00000345446:A519S;ENSP00000330428:A469S;ENSP00000264917:A566S;ENSP00000345646:A546S;ENSP00000331336:A511S;ENSP00000423461:A31S	ENSP00000264917:A566S	A	+	1	0	PDE8B	76743800	1.000000	0.71417	0.955000	0.39395	0.694000	0.40290	4.794000	0.62482	0.308000	0.22923	0.655000	0.94253	GCC	PDE8B	-	NULL	ENSG00000113231		0.428	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0.00	31	0	G	NM_003719		76708044	+1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T
PDXDC2P	283970	genome.wustl.edu	37	16	70065812	70065812	+	RNA	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:70065812C>A	ENST00000531894.1	-	0	810				MIR1972-2_ENST00000458813.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CCATCTGATGCTGGGATCCAA	0.458																																																	0																																												0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70065812C>A			A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-	ENSG00000196696		0.458	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1		0.00	70	0	C			70065812	-1			no_errors	ENST00000325845	ensembl	human	known	74_37	rna	5.56	68	4	SNP	1.000	A
PDZD4	57595	genome.wustl.edu	37	X	153069014	153069014	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:153069014G>A	ENST00000164640.4	-	8	2295	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PDZD4_ENST00000393758.2_Missense_Mutation_p.R627W|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.R593W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	702						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCAGCCGGCTCTGCATC	0.612																																																	0													102.0	85.0	91.0					X																	153069014		2202	4300	6502	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.2104C>T	X.37:g.153069014G>A	ENSP00000164640:p.Arg702Trp		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R702W	ENST00000164640.4	37	c.2104	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609757	0.66558	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.77229	-1.08;-1.08;-1.08	5.67	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.83852	2.665	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.998;1.0;0.985	D	0.86563	0.1842	10	0.87932	D	0	-31.6085	10.1441	0.42753	0.0:0.129:0.5979:0.2731	.	593;708;702;627;606	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	W	702;627;606;593	ENSP00000164640:R702W;ENSP00000377355:R627W;ENSP00000442033:R593W	ENSP00000164640:R702W	R	-	1	2	PDZD4	152722208	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.602000	0.46257	0.545000	0.28902	-0.343000	0.07986	CGG	PDZD4	-	NULL	ENSG00000067840		0.612	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	-	0.00	17	0	G	NM_032512		153069014	-1	tier1	-	no_errors	ENST00000164640	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A
PHF3	23469	genome.wustl.edu	37	6	64404571	64404571	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:64404571G>T	ENST00000262043.3	+	6	2937	c.2597G>T	c.(2596-2598)cGg>cTg	p.R866L	PHF3_ENST00000393387.1_Missense_Mutation_p.R866L			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTACCTCGGAGATCCTCA	0.398																																					GBM(135;136 1820 29512 34071 46235)												0													91.0	102.0	98.0					6																	64404571		2201	4300	6501	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2597G>T	6.37:g.64404571G>T	ENSP00000262043:p.Arg866Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R866L	ENST00000262043.3	37	c.2597	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226538	0.58668	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.48836	1.98;1.68;0.8;2.09;0.98;2.09	5.33	4.46	0.54185	.	0.000000	0.33753	N	0.004590	T	0.34978	0.0916	M	0.63428	1.95	0.42214	D	0.991822	P	0.43024	0.798	B	0.42738	0.396	T	0.32561	-0.9902	10	0.52906	T	0.07	-10.3898	11.8196	0.52230	0.0818:0.0:0.9182:0.0	.	866	Q92576	PHF3_HUMAN	L	680;778;135;866;819;866	ENSP00000424694:R680L;ENSP00000425227:R778L;ENSP00000425338:R135L;ENSP00000262043:R866L;ENSP00000424078:R819L;ENSP00000377048:R866L	ENSP00000262043:R866L	R	+	2	0	PHF3	64462530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.979000	0.70508	1.385000	0.46445	0.555000	0.69702	CGG	PHF3	-	NULL	ENSG00000118482		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0.00	30	0	G			64404571	+1			no_errors	ENST00000262043	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
PIAS1	8554	genome.wustl.edu	37	15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114.0	108.0	110.0					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0.00	53	0	G			68438944	+1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
PIP4K2A	5305	genome.wustl.edu	37	10	23003251	23003251	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:23003251G>A	ENST00000376573.4	-	1	233	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	2					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCCGGGGGTCGCCATGGCCGC	0.687																																																	0													55.0	51.0	52.0					10																	23003251		2203	4300	6503	SO:0001583	missense	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.5C>T	10.37:g.23003251G>A	ENSP00000365757:p.Ala2Val		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A2V	ENST00000376573.4	37	c.5	CCDS7141.1	10	.	.	.	.	.	.	.	.	.	.	g	15.43	2.832583	0.50845	.	.	ENSG00000150867	ENST00000376573	T	0.26810	1.71	3.65	2.72	0.32119	.	0.170990	0.38897	U	0.001535	T	0.10337	0.0253	N	0.08118	0	0.80722	D	1	P	0.38745	0.645	B	0.22753	0.041	T	0.14952	-1.0454	10	0.72032	D	0.01	.	11.3059	0.49334	0.0:0.0:0.816:0.1839	.	2	P48426	PI42A_HUMAN	V	2	ENSP00000365757:A2V	ENSP00000365757:A2V	A	-	2	0	PIP4K2A	23043257	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.298000	0.72763	0.748000	0.32831	0.274000	0.19336	GCG	PIP4K2A	-	NULL	ENSG00000150867		0.687	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1		0.00	24	0	G	NM_005028		23003251	-1			no_errors	ENST00000376573	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110457250	110457250	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110457250G>T	ENST00000378402.5	+	38	5256	c.5152G>T	c.(5152-5154)Gcc>Tcc	p.A1718S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1718	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCCCCTGCTGCCCAACAGCT	0.443										HNSCC(38;0.096)																																							0													201.0	194.0	196.0					8																	110457250		1918	4130	6048	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5152G>T	8.37:g.110457250G>T	ENSP00000367655:p.Ala1718Ser		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.A1718S	ENST00000378402.5	37	c.5152	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898770	0.02472	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	6.17	3.45	0.39498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.560686	0.18974	N	0.126079	T	0.46600	0.1401	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34054	-0.9844	10	0.05959	T	0.93	.	2.9744	0.05933	0.1417:0.5556:0.1485:0.1542	.	1718	Q86WI1	PKHL1_HUMAN	S	1718	ENSP00000367655:A1718S	ENSP00000367655:A1718S	A	+	1	0	PKHD1L1	110526426	0.000000	0.05858	0.358000	0.25811	0.375000	0.29983	-0.201000	0.09464	0.493000	0.27837	-0.165000	0.13383	GCC	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	40	0	G	NM_177531		110457250	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.004	T
PKHD1L1	93035	genome.wustl.edu	37	8	110503297	110503297	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110503297G>T	ENST00000378402.5	+	61	10185	c.10081G>T	c.(10081-10083)Gat>Tat	p.D3361Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3361					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGACATAGATGACAACAT	0.378										HNSCC(38;0.096)																																							0													140.0	133.0	135.0					8																	110503297		1896	4115	6011	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10081G>T	8.37:g.110503297G>T	ENSP00000367655:p.Asp3361Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D3361Y	ENST00000378402.5	37	c.10081	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579653	0.86645	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80824	-1.42;-1.42	5.41	5.41	0.78517	Pectin lyase fold/virulence factor (1);	0.112616	0.64402	D	0.000018	T	0.82226	0.4991	M	0.74881	2.28	0.49915	D	0.999833	B	0.27013	0.166	B	0.30782	0.12	T	0.81745	-0.0792	10	0.87932	D	0	.	17.0417	0.86491	0.0:0.0:1.0:0.0	.	3361	Q86WI1	PKHL1_HUMAN	Y	3361;289	ENSP00000367655:D3361Y;ENSP00000437376:D289Y	ENSP00000367655:D3361Y	D	+	1	0	PKHD1L1	110572473	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.076000	0.89503	2.701000	0.92244	0.563000	0.77884	GAT	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000205038		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0.00	37	0	G	NM_177531		110503297	+1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110516714	110516714	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110516714G>T	ENST00000378402.5	+	68	11091	c.10987G>T	c.(10987-10989)Gat>Tat	p.D3663Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3663					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATAGGCCTGATATAAGGTA	0.303										HNSCC(38;0.096)																																							0													29.0	27.0	27.0					8																	110516714		1789	4044	5833	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10987G>T	8.37:g.110516714G>T	ENSP00000367655:p.Asp3663Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D3663Y	ENST00000378402.5	37	c.10987	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338304	0.81911	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86769	-2.17;-1.99	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.69823	2.125	0.49051	D	0.999748	P	0.51933	0.949	P	0.56343	0.796	D	0.92223	0.5786	10	0.72032	D	0.01	.	16.9861	0.86340	0.0:0.0:1.0:0.0	.	3663	Q86WI1	PKHL1_HUMAN	Y	3663;591	ENSP00000367655:D3663Y;ENSP00000437376:D591Y	ENSP00000367655:D3663Y	D	+	1	0	PKHD1L1	110585890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.113000	0.71553	2.607000	0.88179	0.650000	0.86243	GAT	PKHD1L1	-	NULL	ENSG00000205038		0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	48	0	G	NM_177531		110516714	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	T
PLA2G4A	5321	genome.wustl.edu	37	1	186915831	186915831	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:186915831G>T	ENST00000367466.3	+	11	1248	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D306Y	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	366	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TATGGCTCCCGACTTATTTGG	0.323																																																	0													85.0	86.0	85.0					1																	186915831		2203	4300	6503	SO:0001583	missense	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1096G>T	1.37:g.186915831G>T	ENSP00000356436:p.Asp366Tyr		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.D366Y	ENST00000367466.3	37	c.1096	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091367	0.76756	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04603	3.59;3.59	5.91	5.0	0.66597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.134192	0.64402	D	0.000002	T	0.17023	0.0409	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.65815	0.995;0.993	D;P	0.67900	0.954;0.905	T	0.00238	-1.1889	10	0.87932	D	0	-24.4016	14.1289	0.65240	0.0712:0.0:0.9288:0.0	.	306;366	E7EU42;P47712	.;PA24A_HUMAN	Y	366;306	ENSP00000356436:D366Y;ENSP00000406892:D306Y	ENSP00000356436:D366Y	D	+	1	0	PLA2G4A	185182454	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.731000	0.98807	1.508000	0.48769	0.655000	0.94253	GAC	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.323	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	-	0.00	51	0	G	NM_024420		186915831	+1	tier1	-	no_errors	ENST00000367466	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
PLXNA4	91584	genome.wustl.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592																																																	0													44.0	47.0	46.0					7																	131908351		2099	4251	6350	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2032C>T	7.37:g.131908351G>A	ENSP00000352882:p.Arg678Trp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R678W	ENST00000359827.3	37	c.2032	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000221866		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0.00	43	0	G	NM_181775		131908351	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	A
POGZ	23126	genome.wustl.edu	37	1	151396522	151396522	+	Silent	SNP	G	G	T	rs267598016		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:151396522G>T	ENST00000271715.2	-	9	1740	c.1426C>A	c.(1426-1428)Cgg>Agg	p.R476R	POGZ_ENST00000531094.1_Silent_p.R414R|POGZ_ENST00000392723.1_Silent_p.R423R|POGZ_ENST00000409503.1_Silent_p.R467R|POGZ_ENST00000361398.3_Silent_p.R423R|POGZ_ENST00000491586.1_Silent_p.R423R|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Silent_p.R381R	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	476					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACCATCCCGTCCATAGTAG	0.473																																																	0													144.0	133.0	136.0					1																	151396522		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1426C>A	1.37:g.151396522G>T			B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.R476	ENST00000271715.2	37	c.1426	CCDS997.1	1																																																																																			POGZ	-	NULL	ENSG00000143442		0.473	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	-	0.00	67	0	G	NM_207171		151396522	-1	tier1	-	no_errors	ENST00000271715	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T
POLR1A	25885	genome.wustl.edu	37	2	86258678	86258678	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:86258678G>T	ENST00000263857.6	-	30	4731	c.4353C>A	c.(4351-4353)ccC>ccA	p.P1451P	POLR1A_ENST00000409681.1_Silent_p.P1451P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1451					gene expression (GO:0010467)|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 initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTTCCCTGTGGGGATTTCGTt	0.582																																																	0													164.0	167.0	166.0					2																	86258678		2128	4229	6357	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4353C>A	2.37:g.86258678G>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.P1451	ENST00000263857.6	37	c.4353	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.582	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0.00	195	0	G	NM_015425		86258678	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.000	T
POM121L2	94026	genome.wustl.edu	37	6	27279309	27279309	+	Missense_Mutation	SNP	G	G	A	rs367780723		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:27279309G>A	ENST00000444565.1	-	1	640	c.641C>T	c.(640-642)cCg>cTg	p.P214L	POM121L2_ENST00000377451.2_Missense_Mutation_p.P214L	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	214										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						TCTCTTCAGCGGCCCAGGCCT	0.537																																																	0								G	LEU/PRO	0,1384		0,0,692	55.0	48.0	50.0		641	4.0	0.0	6		50	1,3181		0,1,1590	no	missense	POM121L2	NM_033482.3	98	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging	214/1036	27279309	1,4565	692	1591	2283	SO:0001583	missense	0			AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.641C>T	6.37:g.27279309G>A	ENSP00000392726:p.Pro214Leu		C9J1I7	Missense_Mutation	SNP	NULL	p.P214L	ENST00000444565.1	37	c.641	CCDS59497.1	6	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791420	0.50102	0.0	3.14E-4	ENSG00000158553	ENST00000377451;ENST00000444565	T;T	0.20069	2.1;2.1	3.99	3.99	0.46301	.	0.220262	0.23307	N	0.049604	T	0.25754	0.0627	M	0.65975	2.015	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.01252	-1.1405	10	0.59425	D	0.04	.	11.8938	0.52646	0.0:0.0:1.0:0.0	.	214	C9J1I7	.	L	214	ENSP00000366671:P214L;ENSP00000392726:P214L	ENSP00000366671:P214L	P	-	2	0	POM121L2	27387288	0.989000	0.36119	0.011000	0.14972	0.422000	0.31414	2.109000	0.41863	2.501000	0.84356	0.561000	0.74099	CCG	POM121L2	-	NULL	ENSG00000158553		0.537	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	HGNC	protein_coding	OTTHUMT00000040143.2	-	0.00	83	0	G	NM_033482		27279309	-1	tier1	-	no_errors	ENST00000444565	ensembl	human	known	74_37	missense	55.74	27	34	SNP	0.012	A
PPP3CB	5532	genome.wustl.edu	37	10	75199647	75199647	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:75199647G>T	ENST00000360663.5	-	13	1490	c.1379C>A	c.(1378-1380)gCt>gAt	p.A460D	PPP3CB_ENST00000544628.1_Missense_Mutation_p.A88D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.A461D|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	460					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGCCTCAATAGCCTCAACTGT	0.463																																																	0													213.0	151.0	172.0					10																	75199647		2203	4300	6503	SO:0001583	missense	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1379C>A	10.37:g.75199647G>T	ENSP00000353881:p.Ala460Asp		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.A461D	ENST00000360663.5	37	c.1382	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.215268	0.95104	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394823;ENST00000544628;ENST00000430762	T;T;T	0.05855	3.38;3.38;3.38	6.16	6.16	0.99307	.	0.341069	0.27535	N	0.018939	T	0.17746	0.0426	L	0.53249	1.67	0.80722	D	1	P;D	0.52996	0.947;0.957	P;P	0.54499	0.621;0.754	T	0.00041	-1.2232	10	0.34782	T	0.22	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	461;460	Q8N1F0;P16298	.;PP2BB_HUMAN	D	460;461;132;88;122	ENSP00000353881:A460D;ENSP00000378306:A461D;ENSP00000437596:A88D	ENSP00000353881:A460D	A	-	2	0	PPP3CB	74869653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.885000	0.92439	2.937000	0.99478	0.650000	0.86243	GCT	PPP3CB	-	NULL	ENSG00000107758		0.463	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	-	0.00	95	0	G	NM_021132		75199647	-1	tier1	-	no_errors	ENST00000394829	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
PRKAR1B	5575	genome.wustl.edu	37	7	750980	750980	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:750980C>T	ENST00000406797.1	-	2	337	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E55K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E55K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E55K|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E55K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	55	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TCCAGCTTCTCGAAGTGCTCC	0.652																																																	0													61.0	63.0	62.0					7																	750980		2203	4300	6503	SO:0001583	missense	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.163G>A	7.37:g.750980C>T	ENSP00000385749:p.Glu55Lys		Q8N422	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.E55K	ENST00000406797.1	37	c.163	CCDS34579.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385162	0.82792	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000417852;ENST00000456696	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	3.44	2.53	0.30540	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.000000	0.64402	U	0.000003	T	0.79839	0.4515	M	0.82323	2.585	0.58432	D	0.999998	P	0.47106	0.89	P	0.46659	0.523	T	0.77373	-0.2612	10	0.31617	T	0.26	-26.7641	10.758	0.46247	0.1921:0.8079:0.0:0.0	.	55	P31321	KAP1_HUMAN	K	55	ENSP00000440449:E55K;ENSP00000444487:E55K;ENSP00000385749:E55K;ENSP00000385349:E55K;ENSP00000353415:E55K;ENSP00000402648:E55K;ENSP00000406670:E55K	ENSP00000353415:E55K	E	-	1	0	PRKAR1B	717506	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	6.668000	0.74457	0.630000	0.30394	0.556000	0.70494	GAG	PRKAR1B	-	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su	ENSG00000188191		0.652	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1	-	0.00	66	0	C			750980	-1	tier1	-	no_errors	ENST00000360274	ensembl	human	known	74_37	missense	30.00	56	24	SNP	1.000	T
PRKAR2B	5577	genome.wustl.edu	37	7	106762438	106762438	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:106762438G>A	ENST00000265717.4	+	3	644	c.385G>A	c.(385-387)Gca>Aca	p.A129T	PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	129	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AGAAGATGATGCAGAGTCCAG	0.294																																																	0													117.0	116.0	117.0					7																	106762438		2203	4299	6502	SO:0001583	missense	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.385G>A	7.37:g.106762438G>A	ENSP00000265717:p.Ala129Thr		A4D0R9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.A129T	ENST00000265717.4	37	c.385	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326310	0.24080	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.81659	-1.52	5.25	5.25	0.73442	.	0.276195	0.42172	D	0.000745	T	0.63153	0.2487	N	0.08118	0	0.43583	D	0.995921	B	0.02656	0.0	B	0.01281	0.0	T	0.59380	-0.7465	10	0.12103	T	0.63	-16.3341	16.1148	0.81301	0.0:0.0:1.0:0.0	.	129	P31323	KAP3_HUMAN	T	129;129;116	ENSP00000265717:A129T	ENSP00000265717:A129T	A	+	1	0	PRKAR2B	106549674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.398000	0.34554	2.608000	0.88229	0.655000	0.94253	GCA	PRKAR2B	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000005249		0.294	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	-	0.00	32	0	G			106762438	+1	tier1	-	no_errors	ENST00000265717	ensembl	human	known	74_37	missense	68.97	9	20	SNP	1.000	A
PRKD1	5587	genome.wustl.edu	37	14	30066865	30066865	+	Silent	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:30066865T>G	ENST00000331968.5	-	16	2495	c.2266A>C	c.(2266-2268)Agg>Cgg	p.R756R	PRKD1_ENST00000415220.2_Silent_p.R764R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCCTTGTTCCTTAGGACCTCA	0.488																																																	0													124.0	118.0	120.0					14																	30066865		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2266A>C	14.37:g.30066865T>G			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R756	ENST00000331968.5	37	c.2266	CCDS9637.1	14																																																																																			PRKD1	-	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	ENSG00000184304		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0.00	67	0	T	NM_002742		30066865	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	silent	46.34	22	19	SNP	0.997	G
PRKRA	8575	genome.wustl.edu	37	2	179301047	179301047	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:179301047C>T	ENST00000325748.4	-	7	810		c.e7-1		AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Splice_Site|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CTACATTTGTCTGAAAAACAG	0.368																																					Melanoma(200;68 3001 23825 48764)												0													93.0	99.0	97.0					2																	179301047		2203	4299	6502	SO:0001630	splice_region_variant	0			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.610-1G>A	2.37:g.179301047C>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	-	e7-1	ENST00000325748.4	37	c.610-1	CCDS2279.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135551	0.77662	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5217	0.75871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179009293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.350000	0.52224	2.735000	0.93741	0.650000	0.86243	.	PRKRA	-	-	ENSG00000180228		0.368	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	HGNC	protein_coding	OTTHUMT00000255782.2		0.00	29	0	C	NM_003690	Intron	179301047	-1			no_errors	ENST00000325748	ensembl	human	known	74_37	splice_site	16.67	25	5	SNP	1.000	T
PTGS2	5743	genome.wustl.edu	37	1	186645102	186645102	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:186645102G>A	ENST00000367468.5	-	8	1321	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	395					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Y395*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TAGAGTTGTTGTAGATAAACT	0.388																																																	2	Substitution - Nonsense(2)	kidney(2)											148.0	144.0	146.0					1																	186645102		2203	4300	6503	SO:0001819	synonymous_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1185C>T	1.37:g.186645102G>A			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Y395	ENST00000367468.5	37	c.1185	CCDS1371.1	1																																																																																			PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000073756		0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	-	0.00	100	0	G	NM_000963		186645102	-1	tier1	-	no_errors	ENST00000367468	ensembl	human	known	74_37	silent	51.40	52	55	SNP	1.000	A
PTGS2	5743	genome.wustl.edu	37	1	186645562	186645562	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:186645562G>T	ENST00000367468.5	-	7	1107				PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)						anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ATTTTCCCTGGGGAAGAGGGT	0.348																																																	0													67.0	71.0	70.0					1																	186645562		2203	4300	6503	SO:0001627	intron_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.970+36C>A	1.37:g.186645562G>T			A8K802|Q16876	RNA	SNP	-	NULL	ENST00000367468.5	37	NULL	CCDS1371.1	1																																																																																			PTGS2	-	-	ENSG00000073756		0.348	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	-	0.00	23	0	G	NM_000963		186645562	-1	tier1	-	no_errors	ENST00000490885	ensembl	human	known	74_37	rna	18.52	22	5	SNP	0.000	T
PROX1	5629	genome.wustl.edu	37	1	214171232	214171232	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:214171232G>T	ENST00000366958.4	+	2	1962	c.1354G>T	c.(1354-1356)Gcc>Tcc	p.A452S	PROX1_ENST00000261454.4_Missense_Mutation_p.A452S|PROX1_ENST00000498508.2_Missense_Mutation_p.A452S|PROX1_ENST00000435016.1_Missense_Mutation_p.A452S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	452					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGACCAGTCTGCCTCCGGCCC	0.647																																																	0													64.0	76.0	72.0					1																	214171232		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1354G>T	1.37:g.214171232G>T	ENSP00000355925:p.Ala452Ser		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.A452S	ENST00000366958.4	37	c.1354	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	5.114	0.206695	0.09704	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.71	5.71	0.89125	.	0.048807	0.85682	D	0.000000	T	0.42268	0.1195	L	0.54323	1.7	0.37378	D	0.911912	B	0.06786	0.001	B	0.11329	0.006	T	0.37454	-0.9705	10	0.19590	T	0.45	-4.6853	19.8546	0.96752	0.0:0.0:1.0:0.0	.	452	Q92786	PROX1_HUMAN	S	24;452;452;452;452	ENSP00000420283:A452S;ENSP00000355925:A452S;ENSP00000400694:A452S;ENSP00000261454:A452S	ENSP00000261454:A452S	A	+	1	0	PROX1	212237855	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	4.376000	0.59556	2.697000	0.92050	0.655000	0.94253	GCC	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.647	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0.00	49	0	G	NM_002763		214171232	+1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T
PTPRC	5788	genome.wustl.edu	37	1	198717261	198717261	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:198717261G>T	ENST00000367376.2	+	27	3036	c.2865G>T	c.(2863-2865)tgG>tgT	p.W955C	PTPRC_ENST00000352140.3_Missense_Mutation_p.W907C|PTPRC_ENST00000442510.2_Missense_Mutation_p.W957C|PTPRC_ENST00000348564.6_Missense_Mutation_p.W796C|PTPRC_ENST00000594404.1_Missense_Mutation_p.W794C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	955	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATAGGAGCTGGAGGACACAGC	0.294																																																	0													19.0	19.0	19.0					1																	198717261		2065	4188	6253	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2865G>T	1.37:g.198717261G>T	ENSP00000356346:p.Trp955Cys		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.W957C	ENST00000367376.2	37	c.2871		1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244153	0.79912	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13657	2.57	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.47093	D	0.000253	T	0.45637	0.1352	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.48559	-0.9025	10	0.87932	D	0	.	19.7705	0.96361	0.0:0.0:1.0:0.0	.	796;907;955	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	C	957;907;955;794	ENSP00000193532:W907C	ENSP00000306782:W794C	W	+	3	0	PTPRC	196983884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	2.669000	0.90835	0.655000	0.94253	TGG	PTPRC	-	pirsf_Leukocyte_common_ag,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0.00	47	0	G			198717261	+1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T
PTPN14	5784	genome.wustl.edu	37	1	214542828	214542828	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:214542828G>T	ENST00000366956.5	-	17	3437	c.3243C>A	c.(3241-3243)ggC>ggA	p.G1081G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1081	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTCTGGACAGCCGTGATCTG	0.443																																					Colon(92;557 1424 24372 34121 40073)												0													146.0	145.0	145.0					1																	214542828		2203	4300	6503	SO:0001819	synonymous_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3243C>A	1.37:g.214542828G>T			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.G1081	ENST00000366956.5	37	c.3243	CCDS1514.1	1																																																																																			PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.443	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0.00	61	0	G	NM_005401		214542828	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.940	T
PTPRD	5789	genome.wustl.edu	37	9	8507340	8507340	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:8507340G>T	ENST00000381196.4	-	19	2181	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	PTPRD_ENST00000397606.3_Missense_Mutation_p.N536K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N533K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N533K|PTPRD_ENST00000540109.1_Missense_Mutation_p.N546K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N546K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N536K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N546K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N543K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N543K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N546K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	546	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGTTCATAGTTGGCAATGG	0.433										TSP Lung(15;0.13)																																							0													216.0	190.0	199.0					9																	8507340		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1638C>A	9.37:g.8507340G>T	ENSP00000370593:p.Asn546Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.N546K	ENST00000381196.4	37	c.1638	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	3.906	-0.021130	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.321942	0.42053	D	0.000763	T	0.32823	0.0842	N	0.02286	-0.61	0.41099	D	0.985656	B;B;B;B;B;B;B;B;B	0.22211	0.0;0.001;0.001;0.001;0.0;0.0;0.002;0.066;0.003	B;B;B;B;B;B;B;B;B	0.29440	0.004;0.006;0.01;0.021;0.001;0.003;0.007;0.102;0.033	T	0.27839	-1.0062	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	536;540;546;546;543;543;533;546;546	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	546;546;533;533;546;536;543;543;546;546;546;536	ENSP00000370593:N546K;ENSP00000348812:N546K;ENSP00000353187:N533K;ENSP00000351293:N533K;ENSP00000347373:N546K;ENSP00000380741:N536K;ENSP00000380735:N543K;ENSP00000440515:N543K;ENSP00000438164:N546K;ENSP00000417093:N546K;ENSP00000380731:N536K	.	N	-	3	2	PTPRD	8497340	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	3.399000	0.52586	2.880000	0.98712	0.650000	0.86243	AAC	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	85	0	G			8507340	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44044539	44044539	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:44044539G>T	ENST00000359947.4	+	7	967	c.627G>T	c.(625-627)gcG>gcT	p.A209A	PTPRF_ENST00000438120.1_Silent_p.A209A|PTPRF_ENST00000372413.3_Silent_p.A209A|PTPRF_ENST00000372414.3_Silent_p.A209A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	209	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGTGTGGCGACCAACTCGG	0.602																																																	0													217.0	143.0	168.0					1																	44044539		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.627G>T	1.37:g.44044539G>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A209	ENST00000359947.4	37	c.627	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	74	0	G			44044539	+1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.671	T
PTPRR	5801	genome.wustl.edu	37	12	71139719	71139719	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:71139719G>T	ENST00000283228.2	-	6	1338	c.886C>A	c.(886-888)Cca>Aca	p.P296T	PTPRR_ENST00000440835.2_Missense_Mutation_p.P51T|PTPRR_ENST00000378778.1_Missense_Mutation_p.P90T|PTPRR_ENST00000549308.1_Missense_Mutation_p.P51T|PTPRR_ENST00000342084.4_Missense_Mutation_p.P184T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	296					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGTACCTTTGGGGCCTGCTCA	0.522																																																	0													202.0	152.0	169.0					12																	71139719		2203	4300	6503	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.886C>A	12.37:g.71139719G>T	ENSP00000283228:p.Pro296Thr		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P296T	ENST00000283228.2	37	c.886	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118526	0.56505	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000070	T	0.53158	0.1779	M	0.62723	1.935	0.58432	D	0.999995	P;P;D;B	0.59767	0.682;0.585;0.986;0.449	B;P;P;B	0.56088	0.115;0.475;0.791;0.283	T	0.54173	-0.8333	10	0.51188	T	0.08	-10.3547	18.7735	0.91901	0.0:0.0:1.0:0.0	.	145;184;90;296	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	T	51;296;90;184;51;51	ENSP00000391750:P51T;ENSP00000283228:P296T;ENSP00000368054:P90T;ENSP00000339605:P184T;ENSP00000446943:P51T;ENSP00000449616:P51T	ENSP00000283228:P296T	P	-	1	0	PTPRR	69425986	1.000000	0.71417	0.242000	0.24170	0.962000	0.63368	7.159000	0.77483	2.426000	0.82243	0.655000	0.94253	CCA	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.522	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	-	0.00	58	0	G	NM_002849		71139719	-1	tier1	-	no_errors	ENST00000283228	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.964	T
PTPRS	5802	genome.wustl.edu	37	19	5265128	5265128	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:5265128G>T	ENST00000587303.1	-	4	558	c.459C>A	c.(457-459)acC>acA	p.T153T	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.T153T|PTPRS_ENST00000262963.6_Silent_p.T153T|PTPRS_ENST00000588012.1_Silent_p.T153T|PTPRS_ENST00000372412.4_Silent_p.T153T|PTPRS_ENST00000592099.1_Silent_p.T153T|PTPRS_ENST00000348075.2_Silent_p.T153T|PTPRS_ENST00000357368.4_Silent_p.T153T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	153	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CACAGAGCATGGTGGCTGTCC	0.602																																																	0													183.0	132.0	149.0					19																	5265128		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.459C>A	19.37:g.5265128G>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.T153	ENST00000587303.1	37	c.459	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105426		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0.00	135	0	G			5265128	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.987	T
PTPRT	11122	genome.wustl.edu	37	20	40944500	40944500	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:40944500A>C	ENST00000373187.1	-	12	2001	c.2002T>G	c.(2002-2004)Ttg>Gtg	p.L668V	PTPRT_ENST00000373201.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373190.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373193.3_Missense_Mutation_p.L668V|PTPRT_ENST00000373184.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373198.4_Missense_Mutation_p.L668V|PTPRT_ENST00000356100.2_Missense_Mutation_p.L668V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	668	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGGCTTCAACTCAGCAGCA	0.517																																																	0													129.0	129.0	129.0					20																	40944500		2011	4158	6169	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2002T>G	20.37:g.40944500A>C	ENSP00000362283:p.Leu668Val		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L668V	ENST00000373187.1	37	c.2002	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615477	0.66672	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.19;1.23;1.18;1.18	5.57	-1.88	0.07713	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.70595	2.14	0.47476	D	0.999434	P;P	0.41524	0.753;0.638	P;B	0.44811	0.461;0.175	T	0.48547	-0.9026	10	0.72032	D	0.01	.	12.7576	0.57345	0.4075:0.0:0.5925:0.0	.	668;668	O14522-1;O14522	.;PTPRT_HUMAN	V	668	ENSP00000362286:L668V;ENSP00000362283:L668V;ENSP00000362289:L668V;ENSP00000348408:L668V;ENSP00000362294:L668V;ENSP00000362280:L668V;ENSP00000362297:L668V	ENSP00000348408:L668V	L	-	1	2	PTPRT	40377914	0.033000	0.19621	0.401000	0.26359	0.994000	0.84299	0.049000	0.14099	-0.392000	0.07751	0.460000	0.39030	TTG	PTPRT	-	NULL	ENSG00000196090		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	104	0	A			40944500	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	19.77	142	35	SNP	0.707	C
RALGPS1	9649	genome.wustl.edu	37	9	129815214	129815214	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:129815214G>T	ENST00000259351.5	+	7	746	c.479G>T	c.(478-480)tGg>tTg	p.W160L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.W160L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.W160L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.W160L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.W160L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	160	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAAAAACCTGGGCTGTAAGT	0.393																																																	0													138.0	133.0	135.0					9																	129815214		2203	4300	6503	SO:0001583	missense	0			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.479G>T	9.37:g.129815214G>T	ENSP00000259351:p.Trp160Leu		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.W160L	ENST00000259351.5	37	c.479	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997576	0.93227	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	6.02	6.02	0.97574	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.86849	0.2022	10	0.72032	D	0.01	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	160;160;160;160	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	160;160;160;160;130;160;160	ENSP00000259351:W160L;ENSP00000415630:W160L;ENSP00000377590:W160L;ENSP00000317149:W130L;ENSP00000362535:W160L;ENSP00000362533:W160L	ENSP00000259351:W160L	W	+	2	0	RALGPS1	128855035	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.405000	0.97313	2.865000	0.98341	0.655000	0.94253	TGG	RALGPS1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000136828		0.393	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	-	0.00	71	0	G	NM_014636		129815214	+1	tier1	-	no_errors	ENST00000259351	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
RAPGEF6	51735	genome.wustl.edu	37	5	130766704	130766704	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:130766704G>T	ENST00000509018.1	-	26	4518	c.4313C>A	c.(4312-4314)tCt>tAt	p.S1438Y	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1451Y|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1446Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1446Y|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1488Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1438	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCAGACAGAGAACTGGAGGA	0.498																																					Melanoma(168;435 1955 13113 13877 23213)												0													135.0	137.0	136.0					5																	130766704		2203	4300	6503	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4313C>A	5.37:g.130766704G>T	ENSP00000421684:p.Ser1438Tyr		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1438Y	ENST00000509018.1	37	c.4313	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046657	0.75846	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.29142	1.69;1.58;1.58;1.69;1.78	5.0	5.0	0.66597	.	0.121611	0.56097	D	0.000022	T	0.55065	0.1897	M	0.65975	2.015	0.80722	D	1	D;B;B;D;B	0.76494	0.999;0.004;0.004;0.997;0.023	D;B;B;D;B	0.71870	0.962;0.009;0.009;0.975;0.028	T	0.57382	-0.7821	10	0.59425	D	0.04	.	18.6557	0.91453	0.0:0.0:1.0:0.0	.	1446;1446;1488;1451;1438	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	Y	1438;1451;1446;1446;1451;1488	ENSP00000421684:S1438Y;ENSP00000309298:S1451Y;ENSP00000426081:S1446Y;ENSP00000296859:S1446Y;ENSP00000426948:S1488Y	ENSP00000426948:S1488Y	S	-	2	0	RAPGEF6;FNIP1	130794603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.873000	0.75541	2.480000	0.83734	0.655000	0.94253	TCT	RAPGEF6	-	NULL	ENSG00000158987		0.498	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1		0.00	48	0	G	NM_016340		130766704	-1			no_errors	ENST00000509018	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79310220	79310220	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:79310220G>T	ENST00000419573.3	-	12	1909	c.1635C>A	c.(1633-1635)caC>caA	p.H545Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H545Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	545	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TAAAATCCAAGTGATCTATGT	0.483																																																	0													115.0	105.0	109.0					15																	79310220		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1635C>A	15.37:g.79310220G>T	ENSP00000405963:p.His545Gln		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H545Q	ENST00000419573.3	37	c.1635	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	17.22	3.332997	0.60853	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.28454	1.61	4.73	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.73962	2.25	0.80722	D	1	B;B;B;P	0.36222	0.203;0.409;0.409;0.544	B;B;B;B	0.40009	0.3;0.168;0.168;0.316	T	0.40270	-0.9572	10	0.51188	T	0.08	.	15.2414	0.73474	0.0:0.0:1.0:0.0	.	545;545;545;545	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	545	ENSP00000405963:H545Q	ENSP00000378224:H545Q	H	-	3	2	RASGRF1	77097275	1.000000	0.71417	0.959000	0.39883	0.456000	0.32438	3.099000	0.50267	2.436000	0.82500	0.467000	0.42956	CAC	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.483	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	53	0	G	NM_002891		79310220	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
RBBP6	5930	genome.wustl.edu	37	16	24574976	24574976	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:24574976G>T	ENST00000319715.4	+	13	1943	c.1511G>T	c.(1510-1512)gGc>gTc	p.G504V	RBBP6_ENST00000348022.2_Missense_Mutation_p.G504V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	504					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G504V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGTCGACCAGGCTGGGAACAG	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											103.0	102.0	102.0					16																	24574976		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1511G>T	16.37:g.24574976G>T	ENSP00000317872:p.Gly504Val		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.G504V	ENST00000319715.4	37	c.1511	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042048	0.55003	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.19669	2.13;2.26	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000025	T	0.34279	0.0892	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.03051	-1.1078	10	0.39692	T	0.17	-16.4267	17.6572	0.88181	0.0:0.0:1.0:0.0	.	504;504	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	504	ENSP00000317872:G504V;ENSP00000316291:G504V	ENSP00000317872:G504V	G	+	2	0	RBBP6	24482477	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.229000	0.65316	2.601000	0.87937	0.563000	0.77884	GGC	RBBP6	-	NULL	ENSG00000122257		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0.00	53	0	G	NM_006910		24574976	+1			no_errors	ENST00000319715	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.998	T
RBM11	54033	genome.wustl.edu	37	21	15593474	15593474	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:15593474A>C	ENST00000400577.3	+	3	325	c.316A>C	c.(316-318)Aat>Cat	p.N106H	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	106					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGTTAAGATAAATTCACACAA	0.318																																																	0													50.0	44.0	46.0					21																	15593474		1560	3569	5129	SO:0001583	missense	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.316A>C	21.37:g.15593474A>C	ENSP00000383421:p.Asn106His		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N106H	ENST00000400577.3	37	c.316	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432531	0.62844	.	.	ENSG00000185272	ENST00000400577	T	0.10192	2.9	5.35	5.35	0.76521	.	0.138737	0.48286	D	0.000182	T	0.20577	0.0495	M	0.62723	1.935	0.29309	N	0.86813	D	0.63880	0.993	P	0.58928	0.848	T	0.05801	-1.0863	10	0.13853	T	0.58	-24.8281	9.2971	0.37822	0.8395:0.0:0.0:0.1605	.	106	P57052	RBM11_HUMAN	H	106	ENSP00000383421:N106H	ENSP00000383421:N106H	N	+	1	0	RBM11	14515345	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.683000	0.37638	2.326000	0.78906	0.533000	0.62120	AAT	RBM11	-	NULL	ENSG00000185272		0.318	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	-	0.00	12	0	A	NM_144770		15593474	+1	tier1	-	no_errors	ENST00000400577	ensembl	human	known	74_37	missense	71.43	2	5	SNP	1.000	C
RCOR3	55758	genome.wustl.edu	37	1	211449619	211449619	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:211449619G>T	ENST00000367005.4	+	4	342	c.201G>T	c.(199-201)tgG>tgT	p.W67C	RCOR3_ENST00000367006.4_Missense_Mutation_p.W125C|RCOR3_ENST00000419091.2_Missense_Mutation_p.W125C|RCOR3_ENST00000452621.2_Missense_Mutation_p.W125C	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	67	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGTTGTTCTGGCATAAACATA	0.388																																																	0													224.0	223.0	224.0					1																	211449619		2203	4300	6503	SO:0001583	missense	0			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.201G>T	1.37:g.211449619G>T	ENSP00000355972:p.Trp67Cys		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.W67C	ENST00000367005.4	37	c.201	CCDS31016.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288892	0.80914	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.16	5.16	0.70880	ELM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.76961	-0.2765	10	0.56958	D	0.05	-4.2347	18.9939	0.92804	0.0:0.0:1.0:0.0	.	125;67;125;125	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	C	67;67;125;125;125;67	ENSP00000436057:W67C;ENSP00000436838:W67C;ENSP00000355973:W125C;ENSP00000398558:W125C;ENSP00000413929:W125C;ENSP00000355972:W67C	ENSP00000355972:W67C	W	+	3	0	RCOR3	209516242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.639000	0.98448	2.565000	0.86533	0.585000	0.79938	TGG	RCOR3	-	pfscan_ELM2_dom	ENSG00000117625		0.388	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	HGNC	protein_coding	OTTHUMT00000089821.1		0.00	47	0	G	NM_018254		211449619	+1			no_errors	ENST00000367005	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104831755	104831755	+	Missense_Mutation	SNP	G	G	A	rs377178152		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:104831755G>A	ENST00000507740.1	+	1	256	c.20G>A	c.(19-21)cGc>cAc	p.R7H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R7H|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGACATTGCGCCAGGTCTGC	0.353										HNSCC(12;0.0054)																																							0								G	,HIS/ARG	1,3637		0,1,1818	119.0	116.0	117.0		,20	5.7	1.0	8		117	0,8168		0,0,4084	no	intron,missense	RIMS2	NM_001100117.2,NM_014677.4	,29	0,1,5902	AA,AG,GG		0.0,0.0275,0.0085	,	,7/1164	104831755	1,11805	1819	4084	5903	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.20G>A	8.37:g.104831755G>A	ENSP00000423559:p.Arg7His		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R7H	ENST00000507740.1	37	c.20	CCDS43761.1	8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152792	0.78001	2.75E-4	0.0	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.22134	1.97;2.03;2.04;1.98	5.71	5.71	0.89125	.	.	.	.	.	T	0.30230	0.0758	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.41910	-0.9482	9	0.87932	D	0	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	7;7	Q9UQ26-1;Q9UQ26-3	.;.	H	7	ENSP00000425205:R7H;ENSP00000262231:R7H;ENSP00000423559:R7H;ENSP00000386228:R7H	ENSP00000262231:R7H	R	+	2	0	RIMS2	104900931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.685000	0.91497	0.585000	0.79938	CGC	RIMS2	-	NULL	ENSG00000176406		0.353	RIMS2-005	NOVEL	basic|CCDS	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367215.1	-	0.00	37	0	G	NM_001100117		104831755	+1	tier1	-	no_errors	ENST00000262231	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78318720	78318720	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:78318720G>T	ENST00000582970.1	+	29	6728	c.6585G>T	c.(6583-6585)gaG>gaT	p.E2195D	RNF213_ENST00000336301.6_Missense_Mutation_p.E268D|RNF213_ENST00000508628.2_Missense_Mutation_p.E2244D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2195					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCCCGGAGGAATGCCTCC	0.458																																																	0													96.0	97.0	96.0					17																	78318720		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6585G>T	17.37:g.78318720G>T	ENSP00000464087:p.Glu2195Asp		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2195D	ENST00000582970.1	37	c.6585	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793503	0.16327	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	5.44	-3.56	0.04626	.	0.770143	0.11896	N	0.519118	T	0.14227	0.0344	L	0.44542	1.39	0.09310	N	0.999998	B	0.23540	0.087	B	0.20577	0.03	T	0.29243	-1.0018	10	0.22109	T	0.4	.	2.0304	0.03528	0.3253:0.3904:0.1535:0.1308	.	268	Q63HN8	RN213_HUMAN	D	2195;2244;268	ENSP00000338218:E268D	ENSP00000338218:E268D	E	+	3	2	RNF213	75933315	0.000000	0.05858	0.022000	0.16811	0.355000	0.29361	-0.912000	0.04046	-0.199000	0.10317	0.563000	0.77884	GAG	RNF213	-	NULL	ENSG00000173821		0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0.00	29	0	G	NM_020914		78318720	+1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.016	T
RPL32	6161	genome.wustl.edu	37	3	12877710	12877710	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:12877710G>T	ENST00000429711.2	-	4	390	c.291C>A	c.(289-291)gcC>gcA	p.A97A	RPL32_ENST00000396957.1_Silent_p.A97A|RPL32_ENST00000396953.2_Silent_p.A97A|RPL32_ENST00000435983.1_Silent_p.A97A|RPL32_ENST00000273223.6_Silent_p.A115A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAGCGATCTCGGCACAGTAAG	0.517																																																	0													65.0	55.0	58.0					3																	12877710		2203	4300	6503	SO:0001819	synonymous_variant	0			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.291C>A	3.37:g.12877710G>T			B2R4Q3|P02433	Silent	SNP	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	p.A97	ENST00000429711.2	37	c.291	CCDS2614.1	3																																																																																			RPL32	-	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	ENSG00000144713		0.517	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL32	HGNC	protein_coding	OTTHUMT00000252032.2		0.00	75	0	G	NM_000994		12877710	-1			no_errors	ENST00000396953	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.037	T
RPS19	6223	genome.wustl.edu	37	19	42364855	42364855	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42364855delT	ENST00000598742.1	+	2	383	c.11delT	c.(10-12)gttfs	p.V4fs	RPS19_ENST00000593863.1_Frame_Shift_Del_p.V4fs|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	4					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						ATGCCTGGAGTTACTGTAAAA	0.552									Diamond-Blackfan Anemia																																								0													142.0	143.0	142.0					19																	42364855		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.11delT	19.37:g.42364855delT	ENSP00000470972:p.Val4fs			Frame_Shift_Del	DEL	pfam_Ribosomal_S19e	p.T5fs	ENST00000598742.1	37	c.11	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e	ENSG00000105372		0.552	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1		0.00	59	0	T	NM_001022		42364855	+1	tier1		no_errors	ENST00000593863	ensembl	human	known	74_37	frame_shift_del	9.80	46	5	DEL	1.000	-
RPS19	6223	genome.wustl.edu	37	19	42364858	42364858	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42364858C>A	ENST00000598742.1	+	2	386	c.14C>A	c.(13-15)aCt>aAt	p.T5N	RPS19_ENST00000593863.1_Missense_Mutation_p.T5N|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	5					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CCTGGAGTTACTGTAAAAGAC	0.552									Diamond-Blackfan Anemia																																								0			GRCh37	CI994529	RPS19	I							144.0	144.0	144.0					19																	42364858		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.14C>A	19.37:g.42364858C>A	ENSP00000470972:p.Thr5Asn			Missense_Mutation	SNP	pfam_Ribosomal_S19e	p.T5N	ENST00000598742.1	37	c.14	CCDS12588.1	19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605715	0.46527	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.77103	2.36	0.53688	D	0.999977	P	0.35107	0.484	B	0.41813	0.367	T	0.64884	-0.6302	9	0.66056	D	0.02	-2.5102	8.1538	0.31156	0.0:0.7472:0.161:0.0918	.	5	P39019	RS19_HUMAN	N	5	.	ENSP00000221975:T5N	T	+	2	0	RPS19	47056698	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	5.113000	0.64640	0.602000	0.29896	-0.175000	0.13238	ACT	RPS19	-	pfam_Ribosomal_S19e	ENSG00000105372		0.552	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	-	0.00	58	0	C	NM_001022		42364858	+1	tier1	-	no_errors	ENST00000593863	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7230981	7230981	+	Silent	SNP	G	G	T	rs139120793	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:7230981G>T	ENST00000349384.6	+	10	2963	c.2649G>T	c.(2647-2649)tcG>tcT	p.S883S	RREB1_ENST00000379933.3_Silent_p.S883S|RREB1_ENST00000334984.6_Silent_p.S883S|RREB1_ENST00000379938.2_Silent_p.S883S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	883					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCATGTCTCGATCAAGTTGG	0.612																																																	0													41.0	41.0	41.0					6																	7230981		2203	4300	6503	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2649G>T	6.37:g.7230981G>T			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S883	ENST00000349384.6	37	c.2649	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0.00	46	0	G			7230981	+1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.001	T
RXFP2	122042	genome.wustl.edu	37	13	32356836	32356836	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:32356836G>T	ENST00000298386.2	+	11	952	c.881G>T	c.(880-882)gGt>gTt	p.G294V	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATCAAATTGGTTTTGTTCCA	0.388																																																	0													82.0	80.0	80.0					13																	32356836		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.881G>T	13.37:g.32356836G>T	ENSP00000298386:p.Gly294Val		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.G294V	ENST00000298386.2	37	c.881	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494376	0.26774	.	.	ENSG00000133105	ENST00000298386	T	0.57273	0.41	5.6	1.68	0.24146	.	0.571237	0.19519	N	0.112325	T	0.36826	0.0981	N	0.17345	0.48	0.80722	D	1	B	0.19583	0.037	B	0.34346	0.18	T	0.07693	-1.0759	10	0.32370	T	0.25	.	7.9229	0.29857	0.6665:0.0:0.3335:0.0	.	294	Q8WXD0	RXFP2_HUMAN	V	294	ENSP00000298386:G294V	ENSP00000298386:G294V	G	+	2	0	RXFP2	31254836	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	1.005000	0.29834	0.101000	0.17610	-0.290000	0.09829	GGT	RXFP2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133105		0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0.00	36	0	G	NM_130806		32356836	+1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237831225	237831225	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:237831225G>T	ENST00000366574.2	+	58	8874	c.8557G>T	c.(8557-8559)Gca>Tca	p.A2853S	RYR2_ENST00000542537.1_Missense_Mutation_p.A2837S|RYR2_ENST00000360064.6_Missense_Mutation_p.A2851S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAATATATGGGCAAAGAAAAA	0.294																																																	0													21.0	19.0	20.0					1																	237831225		1795	4042	5837	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8557G>T	1.37:g.237831225G>T	ENSP00000355533:p.Ala2853Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2851S	ENST00000366574.2	37	c.8551	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400223	0.83120	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94576	-3.46;-3.46;-3.46	5.15	4.23	0.50019	Ryanodine receptor Ryr (1);	0.082630	0.46145	N	0.000308	D	0.96191	0.8758	M	0.72624	2.21	0.80722	D	1	D	0.56746	0.977	P	0.60286	0.872	D	0.96290	0.9213	10	0.72032	D	0.01	.	14.896	0.70644	0.0:0.0:0.8553:0.1447	.	2853	Q92736	RYR2_HUMAN	S	2853;2851;2837	ENSP00000355533:A2853S;ENSP00000353174:A2851S;ENSP00000443798:A2837S	ENSP00000353174:A2851S	A	+	1	0	RYR2	235897848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.834000	0.86773	1.139000	0.42245	-0.293000	0.09583	GCA	RYR2	-	pfam_Ryanodine_rcpt	ENSG00000198626		0.294	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	61	0	G	NM_001035		237831225	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237991737	237991737	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:237991737G>T	ENST00000366574.2	+	102	14964	c.14647G>T	c.(14647-14649)Gac>Tac	p.D4883Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D4867Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D4889Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4883					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTCAAAGAAGACATGGAGGT	0.378																																																	0													102.0	104.0	104.0					1																	237991737		1875	4105	5980	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14647G>T	1.37:g.237991737G>T	ENSP00000355533:p.Asp4883Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4889Y	ENST00000366574.2	37	c.14665	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801785	0.90538	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.97505	-4.41;-4.38;-4.41	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000008	D	0.98795	0.9594	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99533	1.0961	10	0.87932	D	0	-19.8158	19.7167	0.96124	0.0:0.0:1.0:0.0	.	316;4883	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4883;4889;4867;316	ENSP00000355533:D4883Y;ENSP00000353174:D4889Y;ENSP00000443798:D4867Y	ENSP00000353174:D4889Y	D	+	1	0	RYR2	236058360	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GAC	RYR2	-	NULL	ENSG00000198626		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	75	0	G	NM_001035		237991737	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T
SAMD3	154075	genome.wustl.edu	37	6	130476116	130476116	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:130476116G>T	ENST00000368134.2	-	11	1485	c.877C>A	c.(877-879)Caa>Aaa	p.Q293K	SAMD3_ENST00000437477.2_Missense_Mutation_p.Q293K|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q317K|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q293K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	293										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACGTATTCTTGCTGGAACCAC	0.363																																																	0													133.0	123.0	126.0					6																	130476116		2203	4300	6503	SO:0001583	missense	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.877C>A	6.37:g.130476116G>T	ENSP00000357116:p.Gln293Lys		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q293K	ENST00000368134.2	37	c.877	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	G	7.264	0.605870	0.14002	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.41758	1.0;0.99;1.0;1.0	5.63	3.84	0.44239	.	0.275715	0.31949	N	0.006818	T	0.15478	0.0373	L	0.50333	1.59	0.80722	D	1	B	0.18310	0.027	B	0.11329	0.006	T	0.06991	-1.0796	10	0.28530	T	0.3	.	4.3598	0.11196	0.1394:0.1223:0.6126:0.1258	.	293	Q8N6K7	SAMD3_HUMAN	K	293;317;293;293	ENSP00000357116:Q293K;ENSP00000402092:Q317K;ENSP00000403565:Q293K;ENSP00000391163:Q293K	ENSP00000357116:Q293K	Q	-	1	0	SAMD3	130517809	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.072000	0.30678	0.823000	0.34589	0.563000	0.77884	CAA	SAMD3	-	NULL	ENSG00000164483		0.363	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3		0.00	75	0	G	NM_152552		130476116	-1			no_errors	ENST00000368134	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.999	T
SAMHD1	25939	genome.wustl.edu	37	20	35539668	35539668	+	Missense_Mutation	SNP	C	C	G	rs140417977		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:35539668C>G	ENST00000262878.4	-	11	1422	c.1223G>C	c.(1222-1224)cGc>cCc	p.R408P		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	408					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGTAGAAATGCGATACTTTTT	0.358																																																	0													148.0	126.0	133.0					20																	35539668		2203	4300	6503	SO:0001583	missense	0			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1223G>C	20.37:g.35539668C>G	ENSP00000262878:p.Arg408Pro		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.R408P	ENST00000262878.4	37	c.1223	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	7.124	0.578474	0.13686	.	.	ENSG00000101347	ENST00000262878	D	0.95035	-3.59	5.29	-10.0	0.00425	.	1.685210	0.03147	N	0.167436	D	0.89107	0.6621	L	0.45137	1.4	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.75033	-0.3460	10	0.13853	T	0.58	-2.2311	11.4457	0.50123	0.0:0.5263:0.2757:0.198	.	408	Q9Y3Z3	SAMH1_HUMAN	P	408	ENSP00000262878:R408P	ENSP00000262878:R408P	R	-	2	0	SAMHD1	34973082	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.948000	0.01533	-1.691000	0.01430	-0.384000	0.06662	CGC	SAMHD1	-	NULL	ENSG00000101347		0.358	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	HGNC	protein_coding	OTTHUMT00000079062.2	-	0.00	64	0	C	NM_015474		35539668	-1	tier1	-	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	5.93	221	14	SNP	0.000	G
SCLY	51540	genome.wustl.edu	37	2	238991976	238991976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:238991976G>T	ENST00000555827.1	+	7	929	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Nonsense_Mutation_p.E195*|SCLY_ENST00000409736.2_Nonsense_Mutation_p.E289*|SCLY_ENST00000254663.6_Nonsense_Mutation_p.E297*|SCLY_ENST00000373332.3_Nonsense_Mutation_p.E207*			Q96I15	SCLY_HUMAN	selenocysteine lyase	289					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGTGGACAAGAACGGAATTT	0.453																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												0													139.0	127.0	131.0					2																	238991976		2203	4300	6503	SO:0001587	stop_gained	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.865G>T	2.37:g.238991976G>T	ENSP00000450613:p.Glu289*		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Nonsense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	p.E297*	ENST00000555827.1	37	c.889		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.3|23.3|23.3	4.397112|4.397112|4.397112	0.83120|0.83120|0.83120	.|.|.	.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000433750|ENST00000437134	.|.|.	.|.|.	.|.|.	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.75034|0.75034	.|0.3795|0.3795	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.72551|0.72551	.|-0.4259|-0.4259	.|4|4	0.87932|.|.	D|.|.	0|.|.	-26.3015|-26.3015|-26.3015	18.8114|18.8114|18.8114	0.92059|0.92059|0.92059	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	297;289;207;289;195;119|30|132	.|.|.	ENSP00000254663:E289X|.|.	E|K|R	+|+|+	1|3|2	0|2|0	SCLY|SCLY|SCLY	238656715|238656715|238656715	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.935000|0.935000|0.935000	0.37517|0.37517|0.37517	0.390000|0.390000|0.390000	0.30446|0.30446|0.30446	8.938000|8.938000|8.938000	0.92943|0.92943|0.92943	2.733000|2.733000|2.733000	0.93635|0.93635|0.93635	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.453	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		-	0.00	43	0	G	NM_016510		238991976	+1	tier1	-	no_errors	ENST00000254663	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T
SCN5A	6331	genome.wustl.edu	37	3	38591965	38591965	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:38591965G>T	ENST00000333535.4	-	28	6047	c.5898C>A	c.(5896-5898)tcC>tcA	p.S1966S	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Silent_p.S1912S|SCN5A_ENST00000449557.2_Silent_p.S1912S|SCN5A_ENST00000455624.2_Silent_p.S1933S|SCN5A_ENST00000423572.2_Silent_p.S1965S|SCN5A_ENST00000425664.1_Silent_p.S1948S|SCN5A_ENST00000413689.1_Silent_p.S1966S|SCN5A_ENST00000443581.1_Silent_p.S1965S|SCN5A_ENST00000414099.2_Silent_p.S1948S|SCN5A_ENST00000451551.2_Silent_p.S1912S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1966					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAGATGGAGGAGCTGGAGG	0.612																																																	0													34.0	41.0	38.0					3																	38591965		2064	4190	6254	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5898C>A	3.37:g.38591965G>T			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.S1966	ENST00000333535.4	37	c.5898	CCDS46796.1	3																																																																																			SCN5A	-	NULL	ENSG00000183873		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0.00	36	0	G	NM_198056		38591965	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T
SCN5A	6331	genome.wustl.edu	37	3	38592867	38592867	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:38592867G>T	ENST00000333535.4	-	28	5145	c.4996C>A	c.(4996-4998)Ctc>Atc	p.L1666I	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1612I|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1612I|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1633I|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1665I|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1648I|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1666I|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1665I|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1648I|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1612I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1666					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AACATGACGAGGAAGAGCAGC	0.557																																																	0													163.0	160.0	161.0					3																	38592867		2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4996C>A	3.37:g.38592867G>T	ENSP00000328968:p.Leu1666Ile		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L1666I	ENST00000333535.4	37	c.4996	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225211	0.79576	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	4.68	4.68	0.58851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	M	0.81497	2.545	0.54753	D	0.999989	D;D;D;D;D;P	0.89917	0.972;0.999;0.999;1.0;1.0;0.64	P;D;D;D;D;P	0.91635	0.895;0.994;0.999;0.999;0.999;0.518	D	0.99731	1.1012	10	0.87932	D	0	.	17.7905	0.88551	0.0:0.0:1.0:0.0	.	1612;1633;1648;1666;1665;1666	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1648;1665;1666;1612;1665;1648;1666;1633;1612;1612	ENSP00000398962:L1648I;ENSP00000398266:L1665I;ENSP00000410257:L1666I;ENSP00000388797:L1612I;ENSP00000397915:L1665I;ENSP00000416634:L1648I;ENSP00000328968:L1666I;ENSP00000399524:L1633I;ENSP00000403355:L1612I;ENSP00000413996:L1612I	ENSP00000328968:L1666I	L	-	1	0	SCN5A	38567871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.455000	0.66658	2.423000	0.82170	0.655000	0.94253	CTC	SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000183873		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0.00	64	0	G	NM_198056		38592867	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
SCYL3	57147	genome.wustl.edu	37	1	169838164	169838164	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:169838164G>T	ENST00000367770.1	-	6	689	c.642C>A	c.(640-642)ctC>ctA	p.L214L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Silent_p.L214L|SCYL3_ENST00000367771.6_Silent_p.L214L			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAAGCTGGAGAGAACATCCG	0.473																																																	0													105.0	93.0	97.0					1																	169838164		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.642C>A	1.37:g.169838164G>T			A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom	p.L214	ENST00000367770.1	37	c.642	CCDS1287.1	1																																																																																			SCYL3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000000457		0.473	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4		0.00	100	0	G	NM_181093		169838164	-1			no_errors	ENST00000367770	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.985	T
SDHA	6389	genome.wustl.edu	37	5	225570	225570	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:225570G>T	ENST00000264932.6	+	4	464	c.349G>T	c.(349-351)Gac>Tac	p.D117Y	SDHA_ENST00000504309.1_Missense_Mutation_p.D117Y|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	117					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CATGGAGGAGGACAACTGGAG	0.592									Familial Paragangliomas																																								0													68.0	75.0	73.0					5																	225570		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.349G>T	5.37:g.225570G>T	ENSP00000264932:p.Asp117Tyr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.D117Y	ENST00000264932.6	37	c.349	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	-	27.9	4.868677	0.91587	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.79352	-1.26;-1.26	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.94059	0.8096	H	0.99777	4.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96672	0.9497	10	0.87932	D	0	.	16.8084	0.85712	0.0:0.0:1.0:0.0	.	117;117;117;123	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	Y	117	ENSP00000264932:D117Y;ENSP00000426514:D117Y	ENSP00000264932:D117Y	D	+	1	0	SDHA	278570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.645000	0.89757	0.644000	0.83932	GAC	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0.00	206	0	G	NM_004168		225570	+1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	5.99	157	10	SNP	1.000	T
SDPR	8436	genome.wustl.edu	37	2	192700728	192700728	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:192700728G>A	ENST00000304141.4	-	2	1528	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GGATGTTAGCGCGTAGCTACC	0.607																																																	0													87.0	81.0	83.0					2																	192700728		2203	4300	6503	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1199C>T	2.37:g.192700728G>A	ENSP00000305675:p.Ala400Val			Missense_Mutation	SNP	NULL	p.A400V	ENST00000304141.4	37	c.1199	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923417	0.33908	.	.	ENSG00000168497	ENST00000304141	T	0.63580	-0.05	5.25	-10.5	0.00291	.	2.135600	0.02207	N	0.062812	T	0.22975	0.0555	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19647	-1.0299	10	0.26408	T	0.33	-0.1406	2.6794	0.05089	0.1277:0.2477:0.3699:0.2547	.	400	O95810	SDPR_HUMAN	V	400	ENSP00000305675:A400V	ENSP00000305675:A400V	A	-	2	0	SDPR	192408973	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.515000	0.06290	-1.725000	0.01371	-1.479000	0.00991	GCG	SDPR	-	NULL	ENSG00000168497		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	-	0.00	28	0	G	NM_004657		192700728	-1	tier1	-	no_errors	ENST00000304141	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.000	A
SEC22B	9554	genome.wustl.edu	37	1	145096374	145096374	+	RNA	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:145096374C>T	ENST00000453618.1	+	0	155							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATTCTGGGGACCGGTAGTGGA	0.537																																																	0																																												0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145096374C>T			A8K1G0	RNA	SNP	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.537	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	-	0.00	13	0	C	NM_004892		145096374	+1	tier1	-	no_errors	ENST00000453618	ensembl	human	known	74_37	rna	60.00	4	6	SNP	1.000	T
SEC63	11231	genome.wustl.edu	37	6	108214859	108214859	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:108214859G>T	ENST00000369002.4	-	16	1680	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	501	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GTTTCACCCTGCTGTGAATCA	0.348																																																	0													140.0	143.0	142.0					6																	108214859		2203	4300	6503	SO:0001630	splice_region_variant	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1501-1C>A	6.37:g.108214859G>T			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q501K	ENST00000369002.4	37	c.1501	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400892	0.25291	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.68765	-0.35	5.38	5.38	0.77491	Sec63 domain (2);	0.178956	0.50627	D	0.000117	T	0.46737	0.1408	L	0.40543	1.245	0.80722	D	1	B;B	0.28820	0.022;0.224	B;B	0.31495	0.013;0.131	T	0.47636	-0.9102	10	0.13853	T	0.58	-1.6873	19.497	0.95077	0.0:0.0:1.0:0.0	.	501;501	Q9UGP8;B3KQF0	SEC63_HUMAN;.	K	501;152;361	ENSP00000357998:Q501K	ENSP00000357998:Q501K	Q	-	1	0	SEC63	108321552	1.000000	0.71417	0.835000	0.33067	0.063000	0.16089	5.578000	0.67450	2.677000	0.91161	0.563000	0.77884	CAG	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	-	0.00	84	0	G	NM_007214	Missense_Mutation	108214859	-1	tier1	-	no_errors	ENST00000369002	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
SERINC3	10955	genome.wustl.edu	37	20	43132519	43132519	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:43132519G>T	ENST00000342374.4	-	8	1149	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	SERINC3_ENST00000541235.1_Missense_Mutation_p.S276Y|SERINC3_ENST00000255175.1_Missense_Mutation_p.S331Y	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	331					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413																																																	0													114.0	118.0	116.0					20																	43132519		2203	4300	6503	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.992C>A	20.37:g.43132519G>T	ENSP00000340243:p.Ser331Tyr		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.S331Y	ENST00000342374.4	37	c.992	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	0.768	-0.766739	0.02974	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.39	-6.18	0.02085	.	0.903580	0.09959	N	0.733615	T	0.10508	0.0257	L	0.43923	1.385	0.09310	N	0.999996	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.005	T	0.38394	-0.9663	10	0.59425	D	0.04	.	9.4939	0.38976	0.0:0.1897:0.4331:0.3772	.	331;331	Q53GK8;Q13530	.;SERC3_HUMAN	Y	70;331;331;298;276	ENSP00000414197:S70Y;ENSP00000255175:S331Y;ENSP00000340243:S331Y;ENSP00000440966:S276Y	ENSP00000255175:S331Y	S	-	2	0	SERINC3	42565933	0.999000	0.42202	0.001000	0.08648	0.003000	0.03518	0.335000	0.19806	-0.815000	0.04346	-0.165000	0.13383	TCT	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.413	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0.00	55	0	G	NM_006811		43132519	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.418	T
SGCG	6445	genome.wustl.edu	37	13	23808769	23808769	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:23808769G>T	ENST00000218867.3	+	3	339	c.215G>T	c.(214-216)tGt>tTt	p.C72F	SGCG_ENST00000537476.1_Missense_Mutation_p.C72F|SGCG_ENST00000545013.1_Missense_Mutation_p.C72F	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	72					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GGCCACTTGTGTGTAACAAAA	0.353																																																	0													97.0	100.0	99.0					13																	23808769		2203	4300	6503	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.215G>T	13.37:g.23808769G>T	ENSP00000218867:p.Cys72Phe		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.C72F	ENST00000218867.3	37	c.215	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225559	0.09916	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94376	-3.41;-3.41;-3.41	5.55	-8.12	0.01078	.	0.439864	0.29172	N	0.012927	T	0.74635	0.3742	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62525	-0.6836	10	0.87932	D	0	-2.3936	5.4927	0.16785	0.4328:0.0:0.2915:0.2758	.	72	Q13326	SGCG_HUMAN	F	72	ENSP00000218867:C72F;ENSP00000444100:C72F;ENSP00000442232:C72F	ENSP00000218867:C72F	C	+	2	0	SGCG	22706769	0.006000	0.16342	0.003000	0.11579	0.314000	0.28054	-0.708000	0.05035	-2.488000	0.00518	-0.482000	0.04802	TGT	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.353	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	-	0.00	49	0	G	NM_000231		23808769	+1	tier1	-	no_errors	ENST00000218867	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.175	T
SERTM1	400120	genome.wustl.edu	37	13	37269257	37269257	+	Silent	SNP	G	G	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:37269257G>C	ENST00000315190.3	+	2	488	c.42G>C	c.(40-42)gtG>gtC	p.V14V		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	14						integral component of membrane (GO:0016021)											CGGGAAGTGTGGAGAATGGAA	0.468																																																	0													153.0	140.0	144.0					13																	37269257		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.42G>C	13.37:g.37269257G>C			Q8N469	Silent	SNP	NULL	p.V14	ENST00000315190.3	37	c.42	CCDS9358.1	13																																																																																			SERTM1	-	NULL	ENSG00000180440		0.468	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTM1	HGNC	protein_coding	OTTHUMT00000044518.2		0.00	41	0	G	NM_203451		37269257	+1			no_errors	ENST00000315190	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	C
LRRC37B	114659	genome.wustl.edu	37	17	30368351	30368351	+	Intron	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:30368351C>T	ENST00000341671.7	+	8	2128				LRRC37B_ENST00000394713.3_Intron|SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Intron|LRRC37B_ENST00000584368.1_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGGAGCATGCCGCCCCTAGAC	0.577																																																	0																																										SO:0001627	intron_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2124-4368C>T	17.37:g.30368351C>T			Q17RC9|Q5YKG6	RNA	SNP	-	NULL	ENST00000341671.7	37	NULL	CCDS32609.1	17																																																																																			SH3GL1P1	-	-	ENSG00000266777		0.577	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1P1	HGNC	protein_coding	OTTHUMT00000446508.1	-	0.00	82	0	C	NM_052888		30368351	+1	tier1	-	no_errors	ENST00000579186	ensembl	human	known	74_37	rna	18.87	43	10	SNP	0.796	T
SH3GLB2	56904	genome.wustl.edu	37	9	131772121	131772121	+	Missense_Mutation	SNP	G	G	T	rs199675117	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:131772121G>T	ENST00000372564.3	-	9	913	c.768C>A	c.(766-768)ttC>ttA	p.F256L	SH3GLB2_ENST00000416629.1_Missense_Mutation_p.F235L|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.F260L|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.F256L|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.F256L	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	256	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GAGACTTGACGAACTCGTGGA	0.602																																																	0													71.0	64.0	66.0					9																	131772121		2203	4300	6503	SO:0001583	missense	0			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.768C>A	9.37:g.131772121G>T	ENSP00000361645:p.Phe256Leu		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.F260L	ENST00000372564.3	37	c.780	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158112	0.78114	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.38	-5.58	0.02512	BAR (3);	0.049322	0.85682	D	0.000000	T	0.69314	0.3097	L	0.60455	1.87	0.58432	D	0.999999	D;P	0.76494	0.999;0.463	D;P	0.69824	0.966;0.578	T	0.71623	-0.4537	10	0.37606	T	0.19	-6.0E-4	16.0695	0.80914	0.8331:0.0:0.1669:0.0	.	260;256	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	L	256;256;260;260;256;235	ENSP00000361645:F256L;ENSP00000361640:F256L;ENSP00000361634:F260L;ENSP00000402566:F256L;ENSP00000388282:F235L	ENSP00000361634:F260L	F	-	3	2	SH3GLB2	130811942	0.317000	0.24589	0.509000	0.27700	0.772000	0.43724	-0.137000	0.10389	-1.037000	0.03283	-1.223000	0.01593	TTC	SH3GLB2	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000148341		0.602	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	HGNC	protein_coding	OTTHUMT00000054535.2		0.00	56	0	G			131772121	-1			no_errors	ENST00000372554	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.951	T
SLC13A1	6561	genome.wustl.edu	37	7	122811922	122811922	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:122811922G>T	ENST00000194130.2	-	3	304	c.265C>A	c.(265-267)Cta>Ata	p.L89I	SLC13A1_ENST00000539873.1_Missense_Mutation_p.L25I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTCCAATTAGCAGTAAGTGA	0.353																																																	0													129.0	120.0	123.0					7																	122811922		2203	4300	6503	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.265C>A	7.37:g.122811922G>T	ENSP00000194130:p.Leu89Ile		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L89I	ENST00000194130.2	37	c.265	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665720	0.67700	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02280	4.36;4.36	5.61	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.86343	2.81	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	T	0.00101	-1.2064	10	0.87932	D	0	.	8.0992	0.30846	0.263:0.0:0.737:0.0	.	89	Q9BZW2	S13A1_HUMAN	I	89;25	ENSP00000194130:L89I;ENSP00000441309:L25I	ENSP00000194130:L89I	L	-	1	2	SLC13A1	122599158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.820000	0.27323	0.735000	0.32537	0.655000	0.94253	CTA	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.353	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	-	0.00	24	0	G	NM_022444		122811922	-1	tier1	-	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
SLC22A16	85413	genome.wustl.edu	37	6	110760034	110760034	+	Silent	SNP	G	G	T	rs373105261		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:110760034G>T	ENST00000368919.3	-	5	1266	c.1200C>A	c.(1198-1200)ccC>ccA	p.P400P	SLC22A16_ENST00000330550.4_Silent_p.P366P|SLC22A16_ENST00000439654.1_Silent_p.P400P|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	400					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGGTGTAGGCGGGAATTTCCA	0.542																																																	0													121.0	92.0	102.0					6																	110760034		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1200C>A	6.37:g.110760034G>T			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P400	ENST00000368919.3	37	c.1200	CCDS5084.1	6																																																																																			SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.542	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	-	0.00	30	0	G	NM_033125		110760034	-1	tier1	-	no_errors	ENST00000368919	ensembl	human	known	74_37	silent	13.04	20	3	SNP	1.000	T
SLC22A16	85413	genome.wustl.edu	37	6	110777989	110777989	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:110777989G>T	ENST00000368919.3	-	2	351	c.285C>A	c.(283-285)atC>atA	p.I95I	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Silent_p.I95I|SLC22A16_ENST00000330550.4_Silent_p.I61I|SLC22A16_ENST00000439654.1_Silent_p.I95I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	95					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGAGCTCCCAGATCTCACCAT	0.468																																																	0													215.0	219.0	218.0					6																	110777989		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.285C>A	6.37:g.110777989G>T			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I95	ENST00000368919.3	37	c.285	CCDS5084.1	6																																																																																			SLC22A16	-	NULL	ENSG00000004809		0.468	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	-	0.00	108	0	G	NM_033125		110777989	-1	tier1	-	no_errors	ENST00000368919	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.325	T
SLC25A40	55972	genome.wustl.edu	37	7	87465575	87465575	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:87465575G>T	ENST00000341119.5	-	12	1352	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	336					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGTATTGCTGCCTTCGAACA	0.363																																																	0													52.0	52.0	52.0					7																	87465575		2203	4299	6502	SO:0001583	missense	0			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.1006C>A	7.37:g.87465575G>T	ENSP00000344831:p.Gln336Lys		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q336K	ENST00000341119.5	37	c.1006	CCDS5610.1	7	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587756	0.28268	.	.	ENSG00000075303	ENST00000341119	T	0.79940	-1.32	5.63	3.79	0.43588	.	0.615310	0.17509	N	0.171697	T	0.65719	0.2718	L	0.29908	0.895	0.09310	N	1	B	0.25667	0.131	B	0.15484	0.013	T	0.52185	-0.8609	10	0.30854	T	0.27	.	5.9961	0.19495	0.0709:0.2326:0.5627:0.1338	.	336	Q8TBP6	S2540_HUMAN	K	336	ENSP00000344831:Q336K	ENSP00000344831:Q336K	Q	-	1	0	SLC25A40	87303511	0.009000	0.17119	0.016000	0.15963	0.280000	0.26924	1.055000	0.30467	0.815000	0.34398	0.650000	0.86243	CAG	SLC25A40	-	NULL	ENSG00000075303		0.363	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	-	0.00	64	0	G	NM_018843		87465575	-1	tier1	-	no_errors	ENST00000341119	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.007	T
SLC27A2	11001	genome.wustl.edu	37	15	50519185	50519185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:50519185G>T	ENST00000267842.5	+	7	1499	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	SLC27A2_ENST00000380902.4_Nonsense_Mutation_p.G370*|SLC27A2_ENST00000544960.1_Nonsense_Mutation_p.G188*	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	423					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGGTGAAGTTGGACTTCTGGT	0.368																																																	0													61.0	60.0	60.0					15																	50519185		2196	4295	6491	SO:0001587	stop_gained	0			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1267G>T	15.37:g.50519185G>T	ENSP00000267842:p.Gly423*		A8K2J7|Q53FY6|Q6PF09	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G423*	ENST00000267842.5	37	c.1267	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.378447	0.98248	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5141	0.87768	0.0:0.0:1.0:0.0	.	.	.	.	X	370;423;188	.	ENSP00000267842:G423X	G	+	1	0	SLC27A2	48306477	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.682000	0.84083	2.730000	0.93505	0.655000	0.94253	GGA	SLC27A2	-	pfam_AMP-dep_Synth/Lig	ENSG00000140284		0.368	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	-	0.00	38	0	G	NM_003645		50519185	+1	tier1	-	no_errors	ENST00000267842	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T
SLC4A7	9497	genome.wustl.edu	37	3	27433267	27433267	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:27433267G>A	ENST00000295736.5	-	21	3193	c.3123C>T	c.(3121-3123)ttC>ttT	p.F1041F	SLC4A7_ENST00000440156.1_Silent_p.F1037F|SLC4A7_ENST00000388777.4_Silent_p.F591F|SLC4A7_ENST00000435667.2_Silent_p.F926F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.F1037F|SLC4A7_ENST00000446700.1_Silent_p.F1033F|SLC4A7_ENST00000454389.1_Silent_p.F1050F|SLC4A7_ENST00000437179.1_Silent_p.F922F|SLC4A7_ENST00000455077.1_Silent_p.F922F|SLC4A7_ENST00000428386.1_Silent_p.F917F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1041					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATATAAAGGAAAACACCAT	0.284																																																	0													65.0	62.0	63.0					3																	27433267		2200	4296	6496	SO:0001819	synonymous_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3123C>T	3.37:g.27433267G>A			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F1050	ENST00000295736.5	37	c.3150	CCDS33721.1	3																																																																																			SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.284	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0.00	31	0	G	NM_003615		27433267	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	A
SLCO1B3	28234	genome.wustl.edu	37	12	21015437	21015437	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:21015437G>T	ENST00000381545.3	+	7	792	c.573G>T	c.(571-573)ttG>ttT	p.L191F	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L191F|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L191F|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.L191F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	191					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TAGTACCATTGGGGATTTCAT	0.383																																																	0													147.0	144.0	145.0					12																	21015437		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.573G>T	12.37:g.21015437G>T	ENSP00000370956:p.Leu191Phe		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L191F	ENST00000381545.3	37	c.573	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453869	0.43531	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	3.9	1.94	0.25998	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.60011	0.2236	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57046	-0.7878	10	0.87932	D	0	.	5.5392	0.17028	0.175:0.0:0.6697:0.1553	.	191;191;191	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	F	191;191;191;191;15;191	ENSP00000442000:L191F;ENSP00000261196:L191F;ENSP00000370956:L191F;ENSP00000451758:L191F;ENSP00000443225:L15F;ENSP00000441269:L191F	ENSP00000441269:L191F	L	+	3	2	SLCO1B3;RP11-545J16.1	20906704	0.999000	0.42202	0.899000	0.35326	0.585000	0.36419	0.542000	0.23222	0.119000	0.18210	0.460000	0.39030	TTG	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.383	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0.00	88	0	G	NM_019844		21015437	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
SLIT1	6585	genome.wustl.edu	37	10	98778853	98778853	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:98778853G>T	ENST00000266058.4	-	27	3003	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L920M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	920					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACAGCCAGCGTTGGAGGA	0.657																																																	0													47.0	44.0	45.0					10																	98778853		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2758C>A	10.37:g.98778853G>T	ENSP00000266058:p.Leu920Met		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L920M	ENST00000266058.4	37	c.2758	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	6.087	0.384319	0.11524	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.81908	-1.55;-1.55	5.54	2.56	0.30785	.	0.459742	0.21707	N	0.070328	T	0.67961	0.2949	L	0.38175	1.15	0.40466	D	0.980293	P	0.34780	0.468	B	0.29942	0.109	T	0.66073	-0.6014	10	0.46703	T	0.11	.	2.1728	0.03854	0.2192:0.1363:0.5041:0.1404	.	920	O75093	SLIT1_HUMAN	M	920	ENSP00000266058:L920M;ENSP00000360109:L920M	ENSP00000266058:L920M	L	-	1	2	SLIT1	98768843	0.025000	0.19082	0.854000	0.33618	0.382000	0.30200	0.262000	0.18460	1.359000	0.45940	0.462000	0.41574	CTG	SLIT1	-	NULL	ENSG00000187122		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1		0.00	37	0	G	NM_003061		98778853	-1			no_errors	ENST00000266058	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.041	T
SNRNP200	23020	genome.wustl.edu	37	2	96942450	96942450	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:96942450G>T	ENST00000323853.5	-	43	6252				SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)						ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						gagccactgcgcccggccCTA	0.507																																																	0																																										SO:0001627	intron_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6174+191C>A	2.37:g.96942450G>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_C	p.R590S	ENST00000323853.5	37	c.1768	CCDS2020.1	2																																																																																			SNRNP200	-	smart_Sec63-dom	ENSG00000144028		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0.00	27	0	G	NM_014014		96942450	-1	tier1	-	no_errors	ENST00000429650	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.002	T
SNX19	399979	genome.wustl.edu	37	11	130780017	130780017	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:130780017G>T	ENST00000265909.4	-	4	2499	c.1930C>A	c.(1930-1932)Ccg>Acg	p.P644T	SNX19_ENST00000534726.1_5'Flank|SNX19_ENST00000533214.1_Missense_Mutation_p.P644T|SNX19_ENST00000528555.1_Missense_Mutation_p.P24T|SNX19_ENST00000539184.1_Missense_Mutation_p.P87T|SNX19_ENST00000530356.1_Missense_Mutation_p.P24T|SNX19_ENST00000545537.1_5'UTR|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	644	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCGATCTCCGGAATGGCACAG	0.453																																																	0													95.0	91.0	92.0					11																	130780017		2201	4297	6498	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1930C>A	11.37:g.130780017G>T	ENSP00000265909:p.Pro644Thr		E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.P644T	ENST00000265909.4	37	c.1930	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098947	0.76870	.	.	ENSG00000120451	ENST00000265909;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.9	5.9	0.94986	Phox homologous domain (5);	0.046707	0.85682	D	0.000000	T	0.62841	0.2461	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.74348	0.869;0.971;0.983	T	0.66324	-0.5952	10	0.72032	D	0.01	-19.3316	14.4365	0.67284	0.07:0.0:0.93:0.0	.	87;644;644	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	T	644;24;24;87;644	ENSP00000265909:P644T;ENSP00000435122:P24T;ENSP00000432307:P24T;ENSP00000443480:P87T;ENSP00000435390:P644T	ENSP00000265909:P644T	P	-	1	0	SNX19	130285227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.113000	0.50376	2.806000	0.96561	0.655000	0.94253	CCG	SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.453	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	-	0.00	60	0	G	NM_014758		130780017	-1	tier1	-	no_errors	ENST00000265909	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
SPAG9	9043	genome.wustl.edu	37	17	49077040	49077041	+	Frame_Shift_Ins	INS	-	-	T	rs371303534		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:49077040_49077041insT	ENST00000262013.7	-	14	1853_1854	c.1645_1646insA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000357122.4_Frame_Shift_Ins_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Ins_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Ins_p.R392fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATGCTTGACCTTTTTTTTTCC	0.322																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1646dupA	17.37:g.49077049_49077049dupT	ENSP00000262013:p.Arg549fs		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Ins	INS	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R549fs	ENST00000262013.7	37	c.1646_1645	CCDS45740.1	17																																																																																			SPAG9	-	NULL	ENSG00000008294		0.322	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2		0.00	77	0	-	NM_003971		49077041	-1	tier1		no_errors	ENST00000262013	ensembl	human	known	74_37	frame_shift_ins	33.33	56	28	INS	1.000:1.000	T
SPRR2B	6701	genome.wustl.edu	37	1	153043267	153043267	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:153043267C>A	ENST00000368755.2	-	1	49	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	SPRR2B_ENST00000368752.4_Missense_Mutation_p.V17L|SPRR2B_ENST00000341611.2_Missense_Mutation_p.V17L			P35325	SPR2B_HUMAN	small proline-rich protein 2B	17					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGGCACACAGGAGGTGGC	0.587																																																	0													17.0	17.0	17.0					1																	153043267		2175	4225	6400	SO:0001583	missense	0			AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.49G>T	1.37:g.153043267C>A	ENSP00000357744:p.Val17Leu		Q5T528	Missense_Mutation	SNP	NULL	p.V17L	ENST00000368755.2	37	c.49	CCDS30865.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112642	0.37242	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	T;T;T	0.40756	1.02;1.02;1.02	3.0	1.07	0.20283	.	0.000000	0.32314	N	0.006269	T	0.12817	0.0311	.	.	.	0.09310	N	1	B	0.27823	0.19	B	0.28784	0.094	T	0.13656	-1.0501	9	0.87932	D	0	.	4.5622	0.12166	0.0:0.6843:0.0:0.3157	.	17	P35325	SPR2B_HUMAN	L	17	ENSP00000357744:V17L;ENSP00000340703:V17L;ENSP00000357741:V17L	ENSP00000340703:V17L	V	-	1	0	SPRR2B	151309891	0.932000	0.31603	0.813000	0.32504	0.856000	0.48823	1.106000	0.31098	0.576000	0.29452	0.455000	0.32223	GTG	SPRR2B	-	NULL	ENSG00000196805		0.587	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2B	HGNC	protein_coding	OTTHUMT00000038905.2	-	0.00	99	0	C			153043267	-1	tier1	-	no_errors	ENST00000341611	ensembl	human	known	74_37	missense	18.37	80	18	SNP	0.326	A
SRGAP3	9901	genome.wustl.edu	37	3	9258348	9258348	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:9258348G>T	ENST00000383836.3	-	1	495				SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR|SRGAP3-AS3_ENST00000432981.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		tgtaatggatgaggaaacgga	0.507			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0																																										SO:0001627	intron_variant	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.67+32220C>A	3.37:g.9258348G>T			Q8IX13|Q8IZV8	RNA	SNP	-	NULL	ENST00000383836.3	37	NULL	CCDS2572.1	3																																																																																			SRGAP3	-	-	ENSG00000196220		0.507	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0.00	58	0	G			9258348	-1	tier1	-	no_errors	ENST00000433332	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.000	T
SRM	6723	genome.wustl.edu	37	1	11116694	11116694	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11116694C>T	ENST00000376957.2	-	4	582	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	168	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ATGATCACGTCGAAGGCATCC	0.567																																																	0													127.0	108.0	114.0					1																	11116694		2203	4300	6503	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.502G>A	1.37:g.11116694C>T	ENSP00000366156:p.Asp168Asn		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.D168N	ENST00000376957.2	37	c.502	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691501	0.88735	.	.	ENSG00000116649	ENST00000376957	D	0.93307	-3.2	5.35	4.43	0.53597	.	0.096320	0.64402	D	0.000002	D	0.97309	0.9120	H	0.96691	3.865	0.80722	D	1	D	0.71674	0.998	P	0.59643	0.861	D	0.98089	1.0408	10	0.87932	D	0	.	13.3119	0.60384	0.0:0.9231:0.0:0.0768	.	168	P19623	SPEE_HUMAN	N	168	ENSP00000366156:D168N	ENSP00000366156:D168N	D	-	1	0	SRM	11039281	1.000000	0.71417	0.017000	0.16124	0.813000	0.45954	7.666000	0.83877	1.378000	0.46305	0.561000	0.74099	GAC	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.567	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	-	0.00	68	0	C	NM_003132		11116694	-1	tier1	-	no_errors	ENST00000376957	ensembl	human	known	74_37	missense	50.82	30	31	SNP	0.957	T
SRM	6723	genome.wustl.edu	37	1	11116718	11116718	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11116718T>C	ENST00000376957.2	-	4	558	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	160	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	TTCTGTTTCATGAACTCAAAA	0.537																																																	0													146.0	123.0	131.0					1																	11116718		2203	4300	6503	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.478A>G	1.37:g.11116718T>C	ENSP00000366156:p.Met160Val		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.M160V	ENST00000376957.2	37	c.478	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813435	0.50527	.	.	ENSG00000116649	ENST00000376957	T	0.73363	-0.74	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	N	0.05280	-0.08	0.80722	D	1	B	0.31655	0.334	B	0.30251	0.113	T	0.57568	-0.7789	10	0.33940	T	0.23	.	14.8105	0.69992	0.0:0.0:0.0:1.0	.	160	P19623	SPEE_HUMAN	V	160	ENSP00000366156:M160V	ENSP00000366156:M160V	M	-	1	0	SRM	11039305	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.883000	0.87264	2.151000	0.67156	0.459000	0.35465	ATG	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.537	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	-	0.00	86	0	T	NM_003132		11116718	-1	tier1	-	no_errors	ENST00000376957	ensembl	human	known	74_37	missense	51.47	33	35	SNP	1.000	C
SSPO	23145	genome.wustl.edu	37	7	149486259	149486259	+	RNA	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:149486259C>T	ENST00000378016.2	+	0	4235							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTTGTGCCGCCCCAGGC	0.662																																																	0													14.0	16.0	16.0					7																	149486259		2105	4226	6331			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486259C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0.00	76	0	C			149486259	+1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	7.02	53	4	SNP	1.000	T
SSUH2	51066	genome.wustl.edu	37	3	8671350	8671351	+	Splice_Site	INS	-	-	A	rs6147701		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:8671350_8671351insA	ENST00000317371.4	-	14	1746_1747	c.521_522insT	c.(520-522)acg>acTg	p.T174fs	SSUH2_ENST00000544814.1_Splice_Site_p.T196fs|SSUH2_ENST00000415132.1_Splice_Site_p.T174fs|SSUH2_ENST00000341795.3_Splice_Site_p.T174fs			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	174	Cys-rich.					cytoplasm (GO:0005737)											GATGACTCACCGTGCCCGCCCC	0.624																																																	0																																										SO:0001630	splice_region_variant	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.522+1->T	3.37:g.8671350_8671351insA			A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Frame_Shift_Ins	INS	superfamily_HSP_DnaJ_Cys-rich_dom	p.V197fs	ENST00000317371.4	37	c.588_587	CCDS2568.1	3																																																																																			SSUH2	-	superfamily_HSP_DnaJ_Cys-rich_dom	ENSG00000125046		0.624	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1		0.00	77	0	-	NM_015931	Frame_Shift_Ins	8671351	-1	tier1		no_errors	ENST00000544814	ensembl	human	known	74_37	frame_shift_ins	10.53	34	4	INS	0.992:0.763	A
STK10	6793	genome.wustl.edu	37	5	171491816	171491816	+	Splice_Site	DEL	C	C	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:171491816delC	ENST00000176763.5	-	13	2333	c.1990delG	c.(1990-1992)gtg>tg	p.V664fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	664					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGTTCTTCACCTGCAGCAGA	0.542																																																	0													124.0	109.0	114.0					5																	171491816		2203	4300	6503	SO:0001630	splice_region_variant	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1990-1G>-	5.37:g.171491816delC			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	pfam_PKK,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	p.V664fs	ENST00000176763.5	37	c.1990	CCDS34290.1	5																																																																																			STK10	-	pfam_PKK	ENSG00000072786		0.542	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2		0.00	18	0	C	NM_005990	Frame_Shift_Del	171491816	-1	tier1		no_errors	ENST00000176763	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	1.000	-
STRAP	11171	genome.wustl.edu	37	12	16052859	16052859	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:16052859G>T	ENST00000419869.2	+	8	1110	c.797G>T	c.(796-798)gGt>gTt	p.G266V	STRAP_ENST00000025399.6_Missense_Mutation_p.G279V|STRAP_ENST00000538352.1_Missense_Mutation_p.G172V	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	266					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGACACTTTGGTCCTATTCAC	0.358																																																	0													108.0	106.0	107.0					12																	16052859		2203	4300	6503	SO:0001583	missense	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.797G>T	12.37:g.16052859G>T	ENSP00000392270:p.Gly266Val		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G279V	ENST00000419869.2	37	c.836	CCDS8676.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555821|4.555821	0.86231|0.86231	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	T;T;T|.	0.62364|.	0.03;0.03;0.03|.	4.76|4.76	4.76|4.76	0.60689|0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81837|0.81837	0.4907|0.4907	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.97110|.	1.0;0.985|.	T|T	0.83251|0.83251	-0.0053|-0.0053	10|5	0.87932|.	D|.	0|.	-21.0897|-21.0897	18.3915|18.3915	0.90485|0.90485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	279;266|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	V|C	172;279;266|32	ENSP00000439761:G172V;ENSP00000025399:G279V;ENSP00000392270:G266V|.	ENSP00000025399:G279V|.	G|W	+|+	2|3	0|0	STRAP|STRAP	15944126|15944126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.037000|9.037000	0.93765|0.93765	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GGT|TGG	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.358	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1		0.00	80	0	G	NM_007178		16052859	+1			no_errors	ENST00000025399	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
STX2	2054	genome.wustl.edu	37	12	131276465	131276465	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:131276465G>T	ENST00000392373.2	-	0	1064				STX2_ENST00000261653.6_Missense_Mutation_p.L282I	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GTTGTTGCTAGGATAATTCCA	0.348																																																	0													131.0	117.0	122.0					12																	131276465		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.*103C>A	12.37:g.131276465G>T			Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L282I	ENST00000392373.2	37	c.844	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971473	0.18736	.	.	ENSG00000111450	ENST00000261653	T	0.48522	0.81	5.34	4.42	0.53409	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	P	0.49961	0.93	P	0.49085	0.6	T	0.34254	-0.9836	8	0.02654	T	1	.	8.5042	0.33177	0.0802:0.1558:0.764:0.0	.	282	P32856-2	.	I	282	ENSP00000261653:L282I	ENSP00000261653:L282I	L	-	1	2	STX2	129842418	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.053000	0.49901	1.194000	0.43101	0.655000	0.94253	CTA	STX2	-	NULL	ENSG00000111450		0.348	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	-	0.00	43	0	G	NM_194356		131276465	-1	tier1	-	no_errors	ENST00000261653	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
SUCO	51430	genome.wustl.edu	37	1	172571303	172571303	+	Missense_Mutation	SNP	G	G	A	rs549545393		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:172571303G>A	ENST00000263688.3	+	21	3337	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	SUCO_ENST00000608151.1_Missense_Mutation_p.D1192N|SUCO_ENST00000367723.4_Missense_Mutation_p.D1191N|SUCO_ENST00000610051.1_Missense_Mutation_p.D669N	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1040					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTCTCAATTTGATGGAGATTA	0.328																																																	0													108.0	99.0	102.0					1																	172571303		2201	4300	6501	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3118G>A	1.37:g.172571303G>A	ENSP00000263688:p.Asp1040Asn		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.D1192N	ENST00000263688.3	37	c.3574	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525812	0.44969	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.54	5.54	0.83059	.	0.476210	0.24611	N	0.037060	T	0.15565	0.0375	L	0.36672	1.1	0.26836	N	0.968489	B;P;B;B	0.50443	0.304;0.935;0.178;0.07	B;P;B;B	0.47864	0.043;0.559;0.072;0.03	T	0.06285	-1.0835	9	0.14656	T	0.56	-9.5062	7.4238	0.27088	0.0836:0.0:0.7489:0.1675	.	669;1040;1192;1040	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	N	1192;1040	.	ENSP00000263688:D1040N	D	+	1	0	C1orf9	170837926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.892000	0.48625	2.585000	0.87301	0.650000	0.86243	GAT	SUCO	-	NULL	ENSG00000094975		0.328	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	-	0.00	76	0	G	NM_016227		172571303	+1	tier1	-	no_errors	ENST00000608151	ensembl	human	known	74_37	missense	61.11	28	44	SNP	1.000	A
SUPT6H	6830	genome.wustl.edu	37	17	27016493	27016493	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:27016493G>T	ENST00000314616.6	+	25	3539	c.3256G>T	c.(3256-3258)Gca>Tca	p.A1086S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1086S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1086	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGCCAATCCTGCAGGAGCCCT	0.532																																																	0													87.0	80.0	82.0					17																	27016493		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3256G>T	17.37:g.27016493G>T	ENSP00000319104:p.Ala1086Ser		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A1086S	ENST00000314616.6	37	c.3256	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708428	0.68615	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.25245	0.725	0.80722	D	1	P	0.46621	0.881	B	0.37198	0.243	T	0.19451	-1.0305	9	0.17832	T	0.49	-11.4486	19.1591	0.93524	0.0:0.0:1.0:0.0	.	1086	Q7KZ85	SPT6H_HUMAN	S	1086	.	ENSP00000319104:A1086S	A	+	1	0	SUPT6H	24040620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	2.528000	0.85240	0.655000	0.94253	GCA	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.532	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0.00	45	0	G	NM_003170		27016493	+1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152542556	152542559	+	Splice_Site	DEL	CATA	CATA	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	CATA	CATA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:152542556_152542559delCATA	ENST00000367255.5	-	118	22258		c.e118+1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAACATACTCCATACCTCATGTTG	0.314										HNSCC(10;0.0054)																																							0																																										SO:0001630	splice_region_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21656+1TATG>-	6.37:g.152542556_152542559delCATA			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	-	e116+2	ENST00000367255.5	37	c.21656+2_21656+1	CCDS5236.2	6																																																																																			SYNE1	-	-	ENSG00000131018		0.314	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	45	0	CATA	NM_182961	Intron	152542559	-1	tier1		no_errors	ENST00000265368	ensembl	human	known	74_37	splice_site_del	17.14	29	6	DEL	0.121:0.133:0.986:1.000	-
TMPRSS11F	389208	genome.wustl.edu	37	4	68928291	68928291	+	Intron	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:68928291C>T	ENST00000356291.2	-	8	1075				RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGCCATCTACGTACTTGCCG	0.398																																																	0													186.0	181.0	183.0					4																	68928291		2203	4300	6503	SO:0001627	intron_variant	0			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1015+2111G>A	4.37:g.68928291C>T			A8MXX2	RNA	SNP	-	NULL	ENST00000356291.2	37	NULL	CCDS3520.1	4																																																																																			RP11-35D5.1	-	-	ENSG00000215127		0.398	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14L	Clone_based_vega_gene	protein_coding	OTTHUMT00000251439.1	-	0.00	93	0	C	NM_207407		68928291	-1	tier1	-	no_errors	ENST00000600441	ensembl	human	known	74_37	rna	38.96	47	30	SNP	1.000	T
TAAR6	319100	genome.wustl.edu	37	6	132892314	132892314	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:132892314G>T	ENST00000275198.1	+	1	854	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	285					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCCTTTATGGGCTTTATAACC	0.373																																																	0													123.0	123.0	123.0					6																	132892314		2203	4300	6503	SO:0001583	missense	0			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.854G>T	6.37:g.132892314G>T	ENSP00000275198:p.Gly285Val		Q5VUQ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.G285V	ENST00000275198.1	37	c.854	CCDS5155.1	6	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920670	0.52653	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.37058	1.22	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.206504	0.31589	N	0.007389	T	0.43853	0.1266	M	0.83312	2.635	0.21762	N	0.999559	P	0.48764	0.915	P	0.60682	0.878	T	0.49399	-0.8944	10	0.87932	D	0	-11.4584	6.1125	0.20108	0.2186:0.0:0.7814:0.0	.	285	Q96RI8	TAAR6_HUMAN	V	285;260	ENSP00000275198:G285V	ENSP00000275198:G285V	G	+	2	0	TAAR6	132934007	0.002000	0.14202	0.864000	0.33941	0.984000	0.73092	1.223000	0.32527	2.639000	0.89480	0.650000	0.86243	GGC	TAAR6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam	ENSG00000146383		0.373	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR6	HGNC	protein_coding	OTTHUMT00000042255.1	-	0.00	72	0	G	NM_175067		132892314	+1	tier1	-	no_errors	ENST00000275198	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.024	T
TAF2	6873	genome.wustl.edu	37	8	120801935	120801935	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:120801935G>T	ENST00000378164.2	-	12	1763	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	489					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATATGTGACTGGAACTTCTGA	0.353																																																	0													74.0	75.0	75.0					8																	120801935		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1465C>A	8.37:g.120801935G>T	ENSP00000367406:p.Gln489Lys		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.Q489K	ENST00000378164.2	37	c.1465	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176431	0.38413	.	.	ENSG00000064313	ENST00000378164	T	0.37915	1.17	5.88	5.0	0.66597	.	0.117279	0.64402	D	0.000010	T	0.22666	0.0547	N	0.22421	0.69	0.80722	D	1	B	0.26318	0.146	B	0.22601	0.04	T	0.04885	-1.0920	10	0.06236	T	0.91	-32.4589	14.8825	0.70545	0.0688:0.0:0.9312:0.0	.	489	Q6P1X5	TAF2_HUMAN	K	489	ENSP00000367406:Q489K	ENSP00000367406:Q489K	Q	-	1	0	TAF2	120871116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.477000	0.48234	0.655000	0.94253	CAG	TAF2	-	NULL	ENSG00000064313		0.353	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0.00	41	0	G	NM_003184		120801935	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
TANC2	26115	genome.wustl.edu	37	17	61315435	61315435	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:61315435G>T	ENST00000424789.2	+	6	812	c.808G>T	c.(808-810)Gca>Tca	p.A270S	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A270S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	270					in utero embryonic development (GO:0001701)			p.A270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATTCAGTAGCAGGTAAgtt	0.338																																																	1	Substitution - Missense(1)	ovary(1)											14.0	14.0	14.0					17																	61315435		1795	3962	5757	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.808G>T	17.37:g.61315435G>T	ENSP00000387593:p.Ala270Ser		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A270S	ENST00000424789.2	37	c.808	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.116298	0.94339	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71103	-0.54;-0.53	5.7	5.7	0.88788	.	.	.	.	.	D	0.83843	0.5342	M	0.68317	2.08	0.80722	D	1	P;D	0.76494	0.92;0.999	P;D	0.87578	0.673;0.998	D	0.83613	0.0135	9	0.54805	T	0.06	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	270;270	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	S	270	ENSP00000374171:A270S;ENSP00000387593:A270S	ENSP00000374171:A270S	A	+	1	0	TANC2	58669167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	GCA	TANC2	-	NULL	ENSG00000170921		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1		0.00	80	0	G			61315435	+1			no_errors	ENST00000424789	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
TBL2	26608	genome.wustl.edu	37	7	72987235	72987235	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:72987235G>T	ENST00000305632.5	-	5	905	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	TBL2_ENST00000432538.1_Missense_Mutation_p.L186M|TBL2_ENST00000452475.1_Missense_Mutation_p.L222M|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	222							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGGTAGACAGCACTTGACCC	0.567																																																	0													257.0	177.0	204.0					7																	72987235		2203	4300	6503	SO:0001583	missense	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.664C>A	7.37:g.72987235G>T	ENSP00000307260:p.Leu222Met		Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L222M	ENST00000305632.5	37	c.664	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073439	0.76415	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.34275	1.37;1.37;1.37	5.95	3.05	0.35203	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070216	0.64402	D	0.000019	T	0.61739	0.2371	M	0.88241	2.94	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.979	T	0.63216	-0.6687	10	0.72032	D	0.01	-15.8128	9.2685	0.37657	0.2382:0.0:0.7618:0.0	.	186;222	E9PF19;Q9Y4P3	.;TBL2_HUMAN	M	222;222;186;222	ENSP00000307260:L222M;ENSP00000413979:L186M;ENSP00000407371:L222M	ENSP00000307260:L222M	L	-	1	2	TBL2	72625171	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.608000	0.54109	0.351000	0.24027	0.561000	0.74099	CTG	TBL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106638		0.567	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	-	0.00	81	0	G	NM_012453		72987235	-1	tier1	-	no_errors	ENST00000305632	ensembl	human	known	74_37	missense	5.94	95	6	SNP	1.000	T
TDRD5	163589	genome.wustl.edu	37	1	179659906	179659906	+	Missense_Mutation	SNP	G	G	A	rs570123255		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:179659906G>A	ENST00000367614.1	+	17	3133	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	TDRD5_ENST00000294848.8_Missense_Mutation_p.R925H|TDRD5_ENST00000444136.1_Missense_Mutation_p.R979H	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	925					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R925H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGACAAGCGTCAAGAATCT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20527	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)											82.0	79.0	80.0					1																	179659906		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2774G>A	1.37:g.179659906G>A	ENSP00000356586:p.Arg925His		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R979H	ENST00000367614.1	37	c.2936	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	7.090	0.571962	0.13623	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.29917	2.76;2.76;2.98;1.55	5.17	2.11	0.27256	.	0.965874	0.08577	N	0.925189	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	P;B	0.35844	0.524;0.015	B;B	0.30855	0.121;0.001	T	0.10965	-1.0607	10	0.62326	D	0.03	-15.9539	4.4233	0.11492	0.2005:0.1872:0.6123:0.0	.	979;925	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	H	925;925;979;435	ENSP00000356586:R925H;ENSP00000294848:R925H;ENSP00000406052:R979H;ENSP00000410744:R435H	ENSP00000294848:R925H	R	+	2	0	TDRD5	177926529	0.007000	0.16637	0.080000	0.20451	0.272000	0.26649	0.730000	0.26043	1.302000	0.44855	0.655000	0.94253	CGT	TDRD5	-	NULL	ENSG00000162782		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0.00	30	0	G	NM_173533		179659906	+1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.003	A
TECTA	7007	genome.wustl.edu	37	11	121008422	121008422	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:121008422G>T	ENST00000392793.1	+	11	3505	c.3234G>T	c.(3232-3234)aaG>aaT	p.K1078N	TECTA_ENST00000264037.2_Missense_Mutation_p.K1078N			O75443	TECTA_HUMAN	tectorin alpha	1078					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCCCTGCAAGGATGATGAGT	0.572																																																	0													113.0	91.0	98.0					11																	121008422		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3234G>T	11.37:g.121008422G>T	ENSP00000376543:p.Lys1078Asn			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.K1078N	ENST00000392793.1	37	c.3234	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745808	0.30955	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36520	1.25;1.25	5.23	1.87	0.25490	.	0.553796	0.20613	N	0.088923	T	0.27559	0.0677	L	0.43152	1.355	0.27858	N	0.940493	B	0.18166	0.026	B	0.15870	0.014	T	0.17531	-1.0366	10	0.23891	T	0.37	.	10.8834	0.46953	0.2981:0.0:0.7019:0.0	.	1078	O75443	TECTA_HUMAN	N	1078	ENSP00000376543:K1078N;ENSP00000264037:K1078N	ENSP00000264037:K1078N	K	+	3	2	TECTA	120513632	0.988000	0.35896	0.842000	0.33263	0.990000	0.78478	0.800000	0.27042	0.595000	0.29777	0.655000	0.94253	AAG	TECTA	-	NULL	ENSG00000109927		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	45	0	G	NM_005422		121008422	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.909	T
TEDDM1	127670	genome.wustl.edu	37	1	182369110	182369110	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:182369110G>T	ENST00000367565.1	-	1	641	c.511C>A	c.(511-513)Ctg>Atg	p.L171M		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	171						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCCTGCATCAGCCAGGAGCCC	0.522																																																	0													70.0	71.0	71.0					1																	182369110		2203	4300	6503	SO:0001583	missense	0			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.511C>A	1.37:g.182369110G>T	ENSP00000356536:p.Leu171Met		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.L171M	ENST00000367565.1	37	c.511	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445899	0.43429	.	.	ENSG00000203730	ENST00000367565	T	0.48201	0.82	4.92	2.91	0.33838	.	0.134851	0.33005	N	0.005387	T	0.56891	0.2016	L	0.56769	1.78	0.30932	N	0.726801	D	0.89917	1.0	D	0.97110	1.0	T	0.55854	-0.8075	10	0.35671	T	0.21	-20.9563	5.4034	0.16308	0.3166:0.0:0.6834:0.0	.	171	Q5T9Z0	TEDM1_HUMAN	M	171	ENSP00000356536:L171M	ENSP00000356536:L171M	L	-	1	2	TEDDM1	180635733	1.000000	0.71417	0.998000	0.56505	0.615000	0.37417	0.728000	0.26013	1.302000	0.44855	-0.253000	0.11424	CTG	TEDDM1	-	pfam_DUF716_TMEM45	ENSG00000203730		0.522	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1		0.00	27	0	G	NM_172000		182369110	-1			no_errors	ENST00000367565	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
TENM4	26011	genome.wustl.edu	37	11	78419504	78419504	+	Missense_Mutation	SNP	G	G	A	rs374934640		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:78419504G>A	ENST00000278550.7	-	27	4573	c.4111C>T	c.(4111-4113)Cgc>Tgc	p.R1371C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1371					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGATCGATGCGTCTGATCATG	0.512																																																	0								G	CYS/ARG	0,4140		0,0,2070	108.0	105.0	106.0		4111	5.5	1.0	11		106	1,8417		0,1,4208	no	missense	ODZ4	NM_001098816.2	180	0,1,6278	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1371/2770	78419504	1,12557	2070	4209	6279	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4111C>T	11.37:g.78419504G>A	ENSP00000278550:p.Arg1371Cys		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1371C	ENST00000278550.7	37	c.4111	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159874	0.78226	0.0	1.19E-4	ENSG00000149256	ENST00000278550	D	0.91407	-2.84	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95326	0.8425	9	.	.	.	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	1371	Q6N022	TEN4_HUMAN	C	1371	ENSP00000278550:R1371C	.	R	-	1	0	ODZ4	78097152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.212000	0.51145	2.878000	0.98634	0.650000	0.86243	CGC	TENM4	-	NULL	ENSG00000149256		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	34	0	G			78419504	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	47.92	25	23	SNP	1.000	A
TERT	7015	genome.wustl.edu	37	5	1278870	1278870	+	Silent	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:1278870C>T	ENST00000310581.5	-	6	2229	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	TERT_ENST00000334602.6_Silent_p.R724R|TERT_ENST00000296820.5_Silent_p.R724R|TERT_ENST00000508104.2_Silent_p.R724R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	724	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCTCCGTGAGCCTGTCCTGGG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													262.0	237.0	245.0					5																	1278870		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2172G>A	5.37:g.1278870C>T			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R724	ENST00000310581.5	37	c.2172	CCDS3861.2	5																																																																																			TERT	-	pfam_RVT,pfscan_RVT	ENSG00000164362		0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2		0.00	86	0	C			1278870	-1			no_errors	ENST00000310581	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.656	T
TES	26136	genome.wustl.edu	37	7	115874616	115874616	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:115874616G>T	ENST00000358204.4	+	2	271	c.56G>T	c.(55-57)gGa>gTa	p.G19V	TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Missense_Mutation_p.G10V|TES_ENST00000537767.1_5'UTR	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	19					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CAAGGATTTGGAGCCCCTTGT	0.323																																																	0													128.0	140.0	136.0					7																	115874616		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.56G>T	7.37:g.115874616G>T	ENSP00000350937:p.Gly19Val		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G19V	ENST00000358204.4	37	c.56	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246856	0.80024	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.69806	-0.43;-0.43	4.72	4.72	0.59763	.	0.189488	0.36101	N	0.002799	D	0.84515	0.5489	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.88003	0.2757	10	0.87932	D	0	-5.5051	16.8348	0.85954	0.0:0.0:1.0:0.0	.	19;19	B7Z5L5;Q9UGI8	.;TES_HUMAN	V	19;19;10	ENSP00000350937:G19V;ENSP00000377121:G10V	ENSP00000257721:G19V	G	+	2	0	TES	115661852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.789000	0.85783	2.345000	0.79718	0.650000	0.86243	GGA	TES	-	NULL	ENSG00000135269		0.323	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	-	0.00	58	0	G	NM_015641		115874616	+1	tier1	-	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
TFF2	7032	genome.wustl.edu	37	21	43771051	43771051	+	Missense_Mutation	SNP	C	C	T	rs142559683		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:43771051C>T	ENST00000291526.4	-	1	186	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	6				MGRRDAQLLAALLVLGLCA -> RHGTARRPAPGSAPRPGA MC (in Ref. 1). {ECO:0000305}.	calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A6T(1)		large_intestine(1)|pancreas(1)|urinary_tract(1)	3						AGGAGCTGGGCGTCTCGCCGT	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	0,4406		0,0,2203	48.0	48.0	48.0		16	-2.9	0.0	21	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	missense	TFF2	NM_005423.4	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	6/130	43771051	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.16G>A	21.37:g.43771051C>T	ENSP00000291526:p.Ala6Thr		Q15854	Missense_Mutation	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.A6T	ENST00000291526.4	37	c.16	CCDS13684.1	21	.	.	.	.	.	.	.	.	.	.	C	5.437	0.265727	0.10294	0.0	2.33E-4	ENSG00000160181	ENST00000291526	T	0.31510	1.49	4.3	-2.87	0.05700	.	1.323920	0.05257	N	0.515138	T	0.17916	0.0430	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20438	-1.0275	9	.	.	.	-4.4448	2.5756	0.04806	0.1374:0.225:0.4426:0.195	.	6	Q03403	TFF2_HUMAN	T	6	ENSP00000291526:A6T	.	A	-	1	0	TFF2	42644120	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.342000	0.01099	-0.411000	0.07530	0.462000	0.41574	GCC	TFF2	-	NULL	ENSG00000160181		0.562	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF2	HGNC	protein_coding	OTTHUMT00000195355.1		0.00	79	0	C	NM_005423		43771051	-1			no_errors	ENST00000291526	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	T
TLR1	7096	genome.wustl.edu	37	4	38802411	38802411	+	Intron	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:38802411G>T	ENST00000502213.2	-	2	163				TLR1_ENST00000308979.2_Intron			Q15399	TLR1_HUMAN	toll-like receptor 1						cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AACAACCCTCGGTTACAAAAG	0.413																																					GBM(5;216 373 40795 46382)												0																																										SO:0001627	intron_variant	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.66+66C>A	4.37:g.38802411G>T			D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	RNA	SNP	-	NULL	ENST00000502213.2	37	NULL	CCDS33973.1	4																																																																																			TLR1	-	-	ENSG00000174125		0.413	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	-	0.00	58	0	G			38802411	-1	tier1	-	no_errors	ENST00000509754	ensembl	human	known	74_37	rna	8.89	41	4	SNP	0.000	T
TMEM214	54867	genome.wustl.edu	37	2	27259589	27259589	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:27259589G>A	ENST00000238788.9	+	7	905	c.843G>A	c.(841-843)atG>atA	p.M281I	TMEM214_ENST00000404032.3_Missense_Mutation_p.M236I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	281					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGGGATCATGCTGCCTGTGC	0.582																																																	0													113.0	119.0	117.0					2																	27259589		2072	4216	6288	SO:0001583	missense	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.843G>A	2.37:g.27259589G>A	ENSP00000238788:p.Met281Ile		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.M281I	ENST00000238788.9	37	c.843	CCDS42664.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.124907|5.124907	0.94429|0.94429	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.56275	.|0.47;0.47	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73636|0.73636	0.3612|0.3612	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.996	.|D;D	.|0.67725	.|0.944;0.953	T|T	0.75221|0.75221	-0.3394|-0.3394	5|10	.|0.56958	.|D	.|0.05	-27.1755|-27.1755	19.1973|19.1973	0.93695|0.93695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;281	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	Y|I	40|281;236;23	.|ENSP00000238788:M281I;ENSP00000384417:M236I	.|ENSP00000238788:M281I	C|M	+|+	2|3	0|0	TMEM214|TMEM214	27113093|27113093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.780000|7.780000	0.85658|0.85658	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	TGC|ATG	TMEM214	-	pfam_DUF2359_TMEM214	ENSG00000119777		0.582	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	-	0.00	53	0	G	NM_017727		27259589	+1	tier1	-	no_errors	ENST00000238788	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A
TMEM229A	730130	genome.wustl.edu	37	7	123672272	123672272	+	Silent	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:123672272G>A	ENST00000455783.1	-	1	1251	c.786C>T	c.(784-786)ttC>ttT	p.F262F	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	262						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						CCAGTACGTTGAAGAAGAAGG	0.592																																																	0													59.0	65.0	63.0					7																	123672272		692	1591	2283	SO:0001819	synonymous_variant	0			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.786C>T	7.37:g.123672272G>A			A4D0X6	Silent	SNP	NULL	p.F262	ENST00000455783.1	37	c.786	CCDS47694.1	7																																																																																			TMEM229A	-	NULL	ENSG00000234224		0.592	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229A	HGNC	protein_coding	OTTHUMT00000336960.3	-	0.00	22	0	G	NM_001136002		123672272	-1	tier1	-	no_errors	ENST00000455783	ensembl	human	known	74_37	silent	66.67	5	10	SNP	0.946	A
TMEM67	91147	genome.wustl.edu	37	8	94794645	94794645	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:94794645G>T	ENST00000453321.3	+	11	1146	c.1088G>T	c.(1087-1089)aGg>aTg	p.R363M	TMEM67_ENST00000409623.3_Missense_Mutation_p.R282M|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	363					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACAGAGACAAGGCTAAATGCT	0.318																																																	0													101.0	100.0	101.0					8																	94794645		2203	4300	6503	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1088G>T	8.37:g.94794645G>T	ENSP00000389998:p.Arg363Met		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.R363M	ENST00000453321.3	37	c.1088	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669693	0.67814	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97138	-4.26;-4.26;-4.26	5.17	5.17	0.71159	.	0.113488	0.64402	D	0.000005	D	0.97673	0.9237	M	0.68952	2.095	0.54753	D	0.999982	D;D	0.71674	0.998;0.96	D;P	0.65323	0.934;0.812	D	0.97967	1.0341	10	0.87932	D	0	-18.3448	12.5271	0.56093	0.0871:0.0:0.9129:0.0	.	363;282	Q5HYA8;G5E9H2	MKS3_HUMAN;.	M	260;363;282	ENSP00000388671:R260M;ENSP00000389998:R363M;ENSP00000386966:R282M	ENSP00000314488:R353M	R	+	2	0	TMEM67	94863821	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	3.404000	0.52623	2.409000	0.81822	0.555000	0.69702	AGG	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.318	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0.00	44	0	G	NM_153704		94794645	+1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.998	T
TMTC1	83857	genome.wustl.edu	37	12	29904749	29904749	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:29904749G>T	ENST00000539277.1	-	5	846	c.788C>A	c.(787-789)tCc>tAc	p.S263Y	TMTC1_ENST00000256062.5_Missense_Mutation_p.S155Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.S263Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.S263Y|TMTC1_ENST00000381224.2_Missense_Mutation_p.S155Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	263						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGGCAGTGAGGAGGGCTGGGG	0.612																																																	0													31.0	29.0	30.0					12																	29904749		2203	4299	6502	SO:0001583	missense	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.788C>A	12.37:g.29904749G>T	ENSP00000442046:p.Ser263Tyr		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S155Y	ENST00000539277.1	37	c.464	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839068	0.32513	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68903	-0.36;-0.11;-0.36;-0.24;1.47	4.26	3.36	0.38483	.	0.982937	0.08312	N	0.965288	T	0.50514	0.1620	N	0.22421	0.69	0.09310	N	1	P;B	0.42649	0.786;0.013	B;B	0.37198	0.243;0.03	T	0.29243	-1.0018	9	.	.	.	-1.7058	9.507	0.39053	0.103:0.0:0.897:0.0	.	155;263	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	Y	155;263;263;263;155	ENSP00000256062:S155Y;ENSP00000448112:S263Y;ENSP00000449043:S263Y;ENSP00000442046:S263Y;ENSP00000370622:S155Y	.	S	-	2	0	TMTC1	29796016	0.991000	0.36638	0.003000	0.11579	0.176000	0.22953	3.336000	0.52113	1.083000	0.41159	0.555000	0.69702	TCC	TMTC1	-	NULL	ENSG00000133687		0.612	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0.00	63	0	G	NM_031920		29904749	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.007	T
TNPO2	30000	genome.wustl.edu	37	19	12817606	12817606	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:12817606C>T	ENST00000592287.1	-	13	1382	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	TNPO2_ENST00000441499.1_Missense_Mutation_p.C425Y|TNPO2_ENST00000588216.1_Missense_Mutation_p.C425Y|TNPO2_ENST00000450764.2_Missense_Mutation_p.C425Y|TNPO2_ENST00000356861.5_Missense_Mutation_p.C425Y|TNPO2_ENST00000425528.1_Missense_Mutation_p.C425Y|SNORD41_ENST00000386967.1_RNA	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	425					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCCTGCATGCAGCCTACAAG	0.587																																																	0													16.0	16.0	16.0					19																	12817606		2100	4242	6342	SO:0001583	missense	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1274G>A	19.37:g.12817606C>T	ENSP00000468434:p.Cys425Tyr		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.C425Y	ENST00000592287.1	37	c.1274	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062151	0.76187	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.91341	0.5097	10	0.87932	D	0	-8.454	16.9454	0.86228	0.0:1.0:0.0:0.0	.	589;425	Q4LE60;O14787	.;TNPO2_HUMAN	Y	589;425;425;425;425;425;425	ENSP00000407182:C425Y;ENSP00000389648:C425Y;ENSP00000397379:C425Y;ENSP00000349321:C425Y	ENSP00000349321:C425Y	C	-	2	0	TNPO2	12678606	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.434000	0.80377	2.298000	0.77334	0.655000	0.94253	TGC	TNPO2	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000105576		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	-	0.00	58	0	C	NM_013433		12817606	-1	tier1	-	no_errors	ENST00000425528	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
TRAF3IP2	10758	genome.wustl.edu	37	6	111913033	111913033	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:111913033T>G	ENST00000340026.6	-	3	878	c.284A>C	c.(283-285)cAa>cCa	p.Q95P	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q86P|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.Q86P			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	95	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTCCAGAACTTGAGTGCGCAG	0.562																																																	0													68.0	70.0	69.0					6																	111913033		2203	4300	6503	SO:0001583	missense	0			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.284A>C	6.37:g.111913033T>G	ENSP00000345984:p.Gln95Pro		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.Q95P	ENST00000340026.6	37	c.284		6	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550860	0.27739	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.31247	1.5;1.5;1.5	5.91	2.16	0.27623	.	0.346526	0.28146	N	0.016433	T	0.04137	0.0115	N	0.08118	0	0.21719	N	0.999573	B;B;B	0.23735	0.054;0.09;0.022	B;B;B	0.23018	0.019;0.043;0.019	T	0.31998	-0.9923	10	0.72032	D	0.01	-7.1998	1.2241	0.01929	0.136:0.1657:0.2811:0.4173	.	95;86;86	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	P	95;86;95;86	ENSP00000357750:Q86P;ENSP00000345984:Q95P;ENSP00000352889:Q86P	ENSP00000345984:Q95P	Q	-	2	0	TRAF3IP2	112019726	0.002000	0.14202	0.380000	0.26093	0.837000	0.47467	-0.250000	0.08830	0.135000	0.18707	0.454000	0.30748	CAA	TRAF3IP2	-	NULL	ENSG00000056972		0.562	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	-	0.00	50	0	T			111913033	-1	tier1	-	no_errors	ENST00000340026	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.024	G
TRIM6	117854	genome.wustl.edu	37	11	5632626	5632626	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:5632626G>T	ENST00000278302.5	+	0	1661				TRIM6_ENST00000506134.1_3'UTR|TRIM6_ENST00000380107.1_3'UTR|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_3'UTR|TRIM6_ENST00000380097.3_3'UTR|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000445329.1_3'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTATCAGCATGTGATTCTCCC	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.*54G>T	11.37:g.5632626G>T			A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	RNA	SNP	-	NULL	ENST00000278302.5	37	NULL	CCDS31390.1	11																																																																																			TRIM6	-	-	ENSG00000121236		0.418	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6	HGNC	protein_coding	OTTHUMT00000143376.2	-	0.00	43	0	G	NM_001003818		5632626	+1	tier1	-	no_errors	ENST00000481603	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.000	T
TRPA1	8989	genome.wustl.edu	37	8	72984005	72984005	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:72984005G>T	ENST00000262209.4	-	2	416	c.209C>A	c.(208-210)gCt>gAt	p.A70D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	70					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCTGCTGCAGCATAATGCAA	0.353																																																	0													150.0	134.0	139.0					8																	72984005		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.209C>A	8.37:g.72984005G>T	ENSP00000262209:p.Ala70Asp		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A70D	ENST00000262209.4	37	c.209	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802435	0.50315	.	.	ENSG00000104321	ENST00000262209	T	0.80566	-1.39	5.08	5.08	0.68730	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.89959	0.4085	10	0.87932	D	0	-14.8224	18.4629	0.90746	0.0:0.0:1.0:0.0	.	70	O75762	TRPA1_HUMAN	D	70	ENSP00000262209:A70D	ENSP00000262209:A70D	A	-	2	0	TRPA1	73146559	1.000000	0.71417	0.921000	0.36526	0.011000	0.07611	6.705000	0.74644	2.368000	0.80403	0.563000	0.77884	GCT	TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	53	0	G	NM_007332		72984005	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.995	T
TRPC1	7220	genome.wustl.edu	37	3	142524994	142524994	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:142524994G>T	ENST00000476941.1	+	13	2785	c.2299G>T	c.(2299-2301)Gat>Tat	p.D767Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D733Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	767					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTGCGCCAAGATCTGTCAAA	0.378																																																	0													90.0	89.0	89.0					3																	142524994		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2299G>T	3.37:g.142524994G>T	ENSP00000419313:p.Asp767Tyr		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D767Y	ENST00000476941.1	37	c.2299	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250892	0.80135	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.89196	-2.48;-2.48	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.95518	0.8592	10	0.87932	D	0	-3.8352	19.5907	0.95509	0.0:0.0:1.0:0.0	.	767;733	P48995;P48995-2	TRPC1_HUMAN;.	Y	767;733	ENSP00000419313:D767Y;ENSP00000273482:D733Y	ENSP00000273482:D733Y	D	+	1	0	TRPC1	144007684	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.455000	0.97625	2.642000	0.89623	0.563000	0.77884	GAT	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.378	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0.00	34	0	G	NM_003304		142524994	+1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
TTC7B	145567	genome.wustl.edu	37	14	91059894	91059894	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:91059894G>T	ENST00000328459.6	-	18	2164	c.2043C>A	c.(2041-2043)agC>agA	p.S681R	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.S698R	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	681										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TAGGGGCACTGCTCTGCAGAG	0.617																																																	0													82.0	69.0	73.0					14																	91059894		2203	4300	6503	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2043C>A	14.37:g.91059894G>T	ENSP00000336127:p.Ser681Arg		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S698R	ENST00000328459.6	37	c.2094	CCDS32140.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.492701|4.492701	0.84962|0.84962	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000557292|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894	.|T;T;T	.|0.68025	.|1.71;1.06;-0.3	5.6|5.6	4.6|4.6	0.57074|0.57074	.|Protein prenyltransferase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77974|0.77974	0.4211|0.4211	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.78314	.|0.986;0.991	T|T	0.78645|0.78645	-0.2123|-0.2123	5|10	.|0.56958	.|D	.|0.05	-20.0802|-20.0802	12.9935|12.9935	0.58634|0.58634	0.1065:0.0:0.8935:0.0|0.1065:0.0:0.8935:0.0	.|.	.|681;698	.|Q86TV6;Q86TV6-2	.|TTC7B_HUMAN;.	K|R	109|579;698;681;168;90	.|ENSP00000349564:S698R;ENSP00000336127:S681R;ENSP00000451440:S168R	.|ENSP00000336127:S681R	Q|S	-|-	1|3	0|2	TTC7B|TTC7B	90129647|90129647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.661000|4.661000	0.61518|0.61518	2.632000|2.632000	0.89209|0.89209	0.650000|0.650000	0.86243|0.86243	CAG|AGC	TTC7B	-	NULL	ENSG00000165914		0.617	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	-	0.00	107	0	G			91059894	-1	tier1	-	no_errors	ENST00000357056	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
TTLL12	23170	genome.wustl.edu	37	22	43572342	43572342	+	Frame_Shift_Del	DEL	G	G	-	rs370892309		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:43572342delG	ENST00000216129.6	-	6	964	c.901delC	c.(901-903)cacfs	p.H301fs	TTLL12_ENST00000484118.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	301	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ATGTGGCCGTGGGGGTGCACC	0.587																																																	0													46.0	43.0	44.0					22																	43572342		2201	4298	6499	SO:0001589	frameshift_variant	0			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.901delC	22.37:g.43572342delG	ENSP00000216129:p.His301fs		Q20WK5|Q9UGU3	Frame_Shift_Del	DEL	pfam_TTL/TTLL_fam	p.H301fs	ENST00000216129.6	37	c.901	CCDS14047.1	22																																																																																			TTLL12	-	NULL	ENSG00000100304		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1		0.00	47	0	G	NM_015140		43572342	-1	tier1		no_errors	ENST00000216129	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.000	-
TTN	7273	genome.wustl.edu	37	2	179440132	179440132	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:179440132G>T	ENST00000591111.1	-	276	66028	c.65804C>A	c.(65803-65805)tCt>tAt	p.S21935Y	TTN_ENST00000342175.6_Missense_Mutation_p.S14703Y|TTN_ENST00000460472.2_Missense_Mutation_p.S14511Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21008Y|TTN_ENST00000589042.1_Missense_Mutation_p.S23576Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14636Y|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21935	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCACTGGTCAGAGCCTTTTCT	0.488																																																	0													132.0	128.0	129.0					2																	179440132		2009	4197	6206	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.65804C>A	2.37:g.179440132G>T	ENSP00000465570:p.Ser21935Tyr		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.S21008Y	ENST00000591111.1	37	c.63023		2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764645	0.31228	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76737	0.4029	M	0.91300	3.195	0.45330	D	0.998328	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.62491	0.82;0.82;0.82;0.903	T	0.82281	-0.0535	9	0.87932	D	0	.	16.6287	0.84993	0.0:0.1296:0.8703:0.0	.	14511;14636;14703;21935	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	21008;14511;14703;14636;14509	ENSP00000343764:S21008Y;ENSP00000434586:S14511Y;ENSP00000340554:S14703Y;ENSP00000352154:S14636Y	ENSP00000340554:S14703Y	S	-	2	0	TTN	179148378	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.946000	0.87746	2.651000	0.90000	0.585000	0.79938	TCT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	63	0	G	NM_133378		179440132	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
UBE2K	3093	genome.wustl.edu	37	4	39780194	39780194	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:39780194delA	ENST00000261427.5	+	0	1027				UBE2K_ENST00000295963.6_3'UTR|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_3'UTR|UBE2K_ENST00000445950.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TTGGAGACTGAAAAAAAAAAA	0.299																																					NSCLC(101;689 1592 16105 29682 31745)												0																																										SO:0001624	3_prime_UTR_variant	0			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.*140A>-	4.37:g.39780194delA			A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	RNA	DEL	-	NULL	ENST00000261427.5	37	NULL	CCDS33976.1	4																																																																																			UBE2K	-	-	ENSG00000078140		0.299	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	HGNC	protein_coding	OTTHUMT00000361061.1		0.00	41	0	A	NM_005339		39780194	+1	tier1		no_errors	ENST00000438068	ensembl	human	known	74_37	rna	19.35	25	6	DEL	0.844	-
TXK	7294	genome.wustl.edu	37	4	48088568	48088568	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:48088568G>T	ENST00000264316.4	-	10	956	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATATGTGACCGCCATTCACCT	0.418																																																	0													204.0	172.0	183.0					4																	48088568		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.871C>A	4.37:g.48088568G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R291	ENST00000264316.4	37	c.871	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074966		0.418	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7		0.00	70	0	G	NM_003328		48088568	-1			no_errors	ENST00000264316	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.997	T
UNC79	57578	genome.wustl.edu	37	14	94063749	94063749	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:94063749G>T	ENST00000393151.2	+	24	3235	c.3235G>T	c.(3235-3237)Gta>Tta	p.V1079L	UNC79_ENST00000256339.4_Missense_Mutation_p.V902L|UNC79_ENST00000553484.1_Missense_Mutation_p.V1079L|UNC79_ENST00000555664.1_Missense_Mutation_p.V1079L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1079					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTCACTCAGTAACCAAAAA	0.468																																																	0													130.0	113.0	119.0					14																	94063749		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3235G>T	14.37:g.94063749G>T	ENSP00000376858:p.Val1079Leu		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.V1079L	ENST00000393151.2	37	c.3235		14	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998674	0.54147	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.20807	0.61	0.43919	D	0.996563	D	0.53312	0.959	D	0.67103	0.949	T	0.02852	-1.1102	10	0.02654	T	1	-20.8461	20.1535	0.98095	0.0:0.0:1.0:0.0	.	1079	C9JQL1	.	L	902;1079;1079;1079;1079	ENSP00000256339:V902L;ENSP00000450868:V1079L;ENSP00000451360:V1079L;ENSP00000376858:V1079L	ENSP00000256339:V902L	V	+	1	0	KIAA1409	93133502	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.810000	0.75216	2.764000	0.94973	0.650000	0.86243	GTA	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.468	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0.00	97	0	G	XM_028395		94063749	+1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	5.71	65	4	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216262423	216262423	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:216262423T>G	ENST00000307340.3	-	23	5203	c.4817A>C	c.(4816-4818)aAa>aCa	p.K1606T	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.K1606T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1606	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATGCCATTTTCCATCACT	0.343										HNSCC(13;0.011)																																							0													210.0	193.0	199.0					1																	216262423		2203	4299	6502	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4817A>C	1.37:g.216262423T>G	ENSP00000305941:p.Lys1606Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1606T	ENST00000307340.3	37	c.4817	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891699	0.33442	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78816	-1.21;-1.21	5.8	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.838313	0.10136	N	0.711428	T	0.71796	0.3382	L	0.41356	1.27	0.09310	N	1	B	0.28470	0.213	B	0.35182	0.197	T	0.62020	-0.6942	10	0.42905	T	0.14	.	7.9533	0.30027	0.0:0.1449:0.0:0.8551	.	1606	O75445	USH2A_HUMAN	T	1606	ENSP00000305941:K1606T;ENSP00000355910:K1606T	ENSP00000305941:K1606T	K	-	2	0	USH2A	214329046	0.008000	0.16893	0.563000	0.28383	0.628000	0.37860	0.830000	0.27462	2.216000	0.71823	0.533000	0.62120	AAA	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	102	0	T	NM_007123		216262423	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	16.06	115	22	SNP	0.063	G
UVRAG	7405	genome.wustl.edu	37	11	75851874	75851874	+	Missense_Mutation	SNP	G	G	T	rs147445026		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:75851874G>T	ENST00000356136.3	+	15	1758	c.1517G>T	c.(1516-1518)cGg>cTg	p.R506L	UVRAG_ENST00000531818.1_Missense_Mutation_p.R134L|UVRAG_ENST00000539288.1_Missense_Mutation_p.R134L|UVRAG_ENST00000538870.1_Missense_Mutation_p.R62L|UVRAG_ENST00000528420.1_Missense_Mutation_p.R405L|UVRAG_ENST00000532130.1_Missense_Mutation_p.R134L|UVRAG_ENST00000533454.1_Missense_Mutation_p.R134L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	506					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CATCGAAAACGGGCCAGCTCT	0.532																																																	0													91.0	88.0	89.0					11																	75851874		2200	4292	6492	SO:0001583	missense	0			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1517G>T	11.37:g.75851874G>T	ENSP00000348455:p.Arg506Leu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.R506L	ENST00000356136.3	37	c.1517	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179722	0.78564	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.56103	0.48	5.44	5.44	0.79542	.	0.052930	0.85682	D	0.000000	T	0.57431	0.2053	L	0.32530	0.975	0.54753	D	0.999982	D;D	0.62365	0.991;0.965	P;P	0.55615	0.78;0.468	T	0.52719	-0.8538	10	0.34782	T	0.22	-6.3756	18.6142	0.91296	0.0:0.0:1.0:0.0	.	62;506	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	L	506;405;134;134;134;134;62	ENSP00000348455:R506L	ENSP00000348455:R506L	R	+	2	0	UVRAG	75529522	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.504000	0.81646	2.717000	0.92951	0.655000	0.94253	CGG	UVRAG	-	NULL	ENSG00000198382		0.532	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1		0.00	54	0	G	NM_003369		75851874	+1			no_errors	ENST00000356136	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100729456	100729456	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:100729456G>A	ENST00000358544.2	+	37	6698	c.6587G>A	c.(6586-6588)aGt>aAt	p.S2196N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S2171N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2196					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTAAAACAAGTCTCAAAGAA	0.383																																					Colon(161;2205 2542 7338 31318)												0													70.0	72.0	71.0					8																	100729456		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6587G>A	8.37:g.100729456G>A	ENSP00000351346:p.Ser2196Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S2196N	ENST00000358544.2	37	c.6587	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766874	0.49574	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.54;-0.55	5.27	5.27	0.74061	.	0.171402	0.50627	D	0.000112	T	0.68091	0.2963	L	0.40543	1.245	0.80722	D	1	B;B	0.34103	0.437;0.31	B;B	0.37888	0.26;0.1	T	0.68857	-0.5298	10	0.51188	T	0.08	.	19.2444	0.93896	0.0:0.0:1.0:0.0	.	2171;2196	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2171;2196	ENSP00000349685:S2171N;ENSP00000351346:S2196N	ENSP00000349685:S2171N	S	+	2	0	VPS13B	100798632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.786000	0.91826	2.590000	0.87494	0.655000	0.94253	AGT	VPS13B	-	NULL	ENSG00000132549		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0.00	42	0	G	NM_184042		100729456	+1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	11.71	98	13	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12382683	12382683	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:12382683G>T	ENST00000358136.3	+	34	7925	c.7795G>T	c.(7795-7797)Gct>Tct	p.A2599S	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2599S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAAGCTAATGCTGCAGTGCC	0.478																																																	0													132.0	123.0	126.0					1																	12382683		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7795G>T	1.37:g.12382683G>T	ENSP00000350854:p.Ala2599Ser			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2599S	ENST00000358136.3	37	c.7795	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.330|8.330	0.826233|0.826233	0.16749|0.16749	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53206|.	0.63;0.64|.	5.86|5.86	1.94|1.94	0.25998|0.25998	.|.	0.644293|.	0.16270|.	N|.	0.221811|.	T|T	0.32194|0.32194	0.0821|0.0821	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.14012|.	0.009;0.004;0.003|.	B;B;B|.	0.15052|.	0.002;0.012;0.005|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.10377|.	T|.	0.69|.	.|.	8.769|8.769	0.34719|0.34719	0.1612:0.1151:0.7237:0.0|0.1612:0.1151:0.7237:0.0	.|.	506;2599;2599|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	S|I	2599|1421	ENSP00000348666:A2599S;ENSP00000350854:A2599S|.	ENSP00000348666:A2599S|.	A|M	+|+	1|3	0|0	VPS13D|VPS13D	12305270|12305270	0.992000|0.992000	0.36948|0.36948	0.013000|0.013000	0.15412|0.15412	0.065000|0.065000	0.16274|0.16274	2.452000|2.452000	0.44961|0.44961	0.114000|0.114000	0.18032|0.18032	0.655000|0.655000	0.94253|0.94253	GCT|ATG	VPS13D	-	NULL	ENSG00000048707		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0.00	43	0	G	NM_015378		12382683	+1			no_errors	ENST00000358136	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.006	T
VPS26B	112936	genome.wustl.edu	37	11	134095143	134095143	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:134095143G>T	ENST00000281187.5	+	1	605	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	NCAPD3_ENST00000534548.2_5'Flank|VPS26B_ENST00000525095.2_Missense_Mutation_p.G43W|NCAPD3_ENST00000526422.1_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	43					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CTTCTACGACGGGGAGACGGT	0.572																																					Colon(171;1263 1952 15904 45703 47982)												0													104.0	105.0	105.0					11																	134095143		2201	4297	6498	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.127G>T	11.37:g.134095143G>T	ENSP00000281187:p.Gly43Trp		Q96A55	Missense_Mutation	SNP	pfam_VPS26,superfamily_Ig_E-set	p.G43W	ENST00000281187.5	37	c.127	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.261372	0.95368	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91169	0.4967	10	0.87932	D	0	-17.4967	18.1052	0.89518	0.0:0.0:1.0:0.0	.	43	Q4G0F5	VP26B_HUMAN	W	43	ENSP00000281187:G43W;ENSP00000434162:G43W	ENSP00000281187:G43W	G	+	1	0	VPS26B	133600353	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.603000	0.98315	2.254000	0.74563	0.563000	0.77884	GGG	VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.572	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	-	0.00	63	0	G	NM_052875		134095143	+1	tier1	-	no_errors	ENST00000281187	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
VRK2	7444	genome.wustl.edu	37	2	58358982	58358982	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:58358982G>T	ENST00000435505.2	+	12	1461	c.716G>T	c.(715-717)tGc>tTc	p.C239F	VRK2_ENST00000417641.2_Missense_Mutation_p.C239F|VRK2_ENST00000340157.4_Missense_Mutation_p.C239F|VRK2_ENST00000412104.2_Missense_Mutation_p.C239F|VRK2_ENST00000440705.2_Missense_Mutation_p.C216F			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTCGGCTACTGCATGCTGCGG	0.458																																																	0													142.0	125.0	130.0					2																	58358982		2203	4300	6503	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.716G>T	2.37:g.58358982G>T	ENSP00000408002:p.Cys239Phe		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	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,pfscan_Prot_kinase_dom	p.C239F	ENST00000435505.2	37	c.716	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673031	0.88445	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.993;0.996	T	0.04203	-1.0969	10	0.72032	D	0.01	-12.4301	20.6593	0.99626	0.0:0.0:1.0:0.0	.	243;239;239;239	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	F	239;239;243;239;239;239;216	ENSP00000408002:C239F;ENSP00000402375:C239F;ENSP00000404156:C239F;ENSP00000342381:C239F;ENSP00000398323:C216F	ENSP00000342381:C239F	C	+	2	0	VRK2	58212486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	TGC	VRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000028116		0.458	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0.00	55	0	G	NM_006296		58358982	+1			no_errors	ENST00000340157	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
VWA5B2	90113	genome.wustl.edu	37	3	183955105	183955105	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:183955105delC	ENST00000426955.2	+	11	1725	c.1625delC	c.(1624-1626)accfs	p.T542fs	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Frame_Shift_Del_p.T323fs	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	553										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						GCACTGCTGACCCCCCGGGAG	0.627																																																	0													47.0	46.0	47.0					3																	183955105		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1625delC	3.37:g.183955105delC	ENSP00000398688:p.Thr542fs		B9EGN7	Frame_Shift_Del	DEL	NULL	p.R544fs	ENST00000426955.2	37	c.1625	CCDS54686.1	3																																																																																			VWA5B2	-	NULL	ENSG00000145198		0.627	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2		0.00	80	0	C	XM_291077		183955105	+1	tier1		no_errors	ENST00000426955	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.999	-
WAPAL	23063	genome.wustl.edu	37	10	88259811	88259811	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:88259811G>T	ENST00000298767.5	-	3	1661	c.1189C>A	c.(1189-1191)Cgt>Agt	p.R397S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	397	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.R397C(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTCTGAGACGACCAGCTTCT	0.388																																																	1	Substitution - Missense(1)	breast(1)											58.0	59.0	59.0					10																	88259811		2203	4300	6503	SO:0001583	missense	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1189C>A	10.37:g.88259811G>T	ENSP00000298767:p.Arg397Ser		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.R397S	ENST00000298767.5	37	c.1189	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242789	0.39598	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32753	1.44	5.53	3.64	0.41730	.	0.223502	0.39687	N	0.001288	T	0.33673	0.0871	L	0.53249	1.67	0.80722	D	1	P;P;P	0.51537	0.649;0.649;0.946	B;B;P	0.47118	0.199;0.199;0.538	T	0.10222	-1.0639	10	0.46703	T	0.11	.	10.9458	0.47299	0.0682:0.0:0.8034:0.1284	.	397;397;440	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	S	482;397;482	ENSP00000298767:R397S	ENSP00000298767:R397S	R	-	1	0	WAPAL	88249791	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.209000	0.58493	1.323000	0.45263	0.650000	0.86243	CGT	WAPAL	-	NULL	ENSG00000062650		0.388	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2		0.00	29	0	G	NM_015045		88259811	-1			no_errors	ENST00000298767	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.996	T
WDFY3	23001	genome.wustl.edu	37	4	85645675	85645675	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:85645675G>T	ENST00000295888.4	-	46	7752	c.7345C>A	c.(7345-7347)Ccc>Acc	p.P2449T	WDFY3_ENST00000322366.6_Missense_Mutation_p.P2432T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2449	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAATGGCGGGATTGCCAGAG	0.458																																																	0													128.0	126.0	127.0					4																	85645675		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7345C>A	4.37:g.85645675G>T	ENSP00000295888:p.Pro2449Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2449T	ENST00000295888.4	37	c.7345	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809738	0.50421	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64085	-0.08;-0.05;0.0	6.07	4.28	0.50868	.	0.102393	0.64402	D	0.000002	T	0.56426	0.1984	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49826	-0.8898	10	0.20046	T	0.44	.	16.6628	0.85245	0.0:0.2448:0.7552:0.0	.	2449	Q8IZQ1	WDFY3_HUMAN	T	2432;2449;52	ENSP00000318466:P2432T;ENSP00000295888:P2449T;ENSP00000424987:P52T	ENSP00000295888:P2449T	P	-	1	0	WDFY3	85864699	1.000000	0.71417	0.056000	0.19401	0.852000	0.48524	4.001000	0.57046	0.818000	0.34468	0.655000	0.94253	CCC	WDFY3	-	NULL	ENSG00000163625		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0.00	43	0	G	NM_014991		85645675	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.995	T
WDR17	116966	genome.wustl.edu	37	4	177094439	177094439	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:177094439G>T	ENST00000280190.4	+	27	3539	c.3383G>T	c.(3382-3384)tGg>tTg	p.W1128L	WDR17_ENST00000393643.2_Missense_Mutation_p.W1104L|WDR17_ENST00000508596.1_Missense_Mutation_p.W1089L|WDR17_ENST00000507824.2_Missense_Mutation_p.W1103L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1128										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTCAGACTGGACTTTGGAT	0.318																																																	0													90.0	87.0	88.0					4																	177094439		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3383G>T	4.37:g.177094439G>T	ENSP00000280190:p.Trp1128Leu		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W1128L	ENST00000280190.4	37	c.3383	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456344	0.63401	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60797	0.18;0.23;0.16	5.58	5.58	0.84498	.	0.084810	0.52532	N	0.000065	T	0.76955	0.4060	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.993	T	0.78635	-0.2127	10	0.87932	D	0	-2.2038	19.5494	0.95311	0.0:0.0:1.0:0.0	.	1104;1089;1128	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	L	1089;1104;1128;1104	ENSP00000422763:W1089L;ENSP00000377258:W1104L;ENSP00000280190:W1128L	ENSP00000280190:W1128L	W	+	2	0	WDR17	177331433	1.000000	0.71417	0.989000	0.46669	0.192000	0.23643	8.893000	0.92498	2.628000	0.89032	0.585000	0.79938	TGG	WDR17	-	NULL	ENSG00000150627		0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0.00	58	0	G			177094439	+1			no_errors	ENST00000280190	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
WDR26	80232	genome.wustl.edu	37	1	224621665	224621665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:224621665G>T	ENST00000414423.2	-	1	336	c.143C>A	c.(142-144)tCg>tAg	p.S48*	WDR26_ENST00000366852.2_Nonsense_Mutation_p.S48*|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CCCCGCGGACGACGACGACGA	0.706																																																	0													15.0	22.0	20.0					1																	224621665		692	1590	2282	SO:0001587	stop_gained	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.143C>A	1.37:g.224621665G>T	ENSP00000408108:p.Ser48*		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S48*	ENST00000414423.2	37	c.143	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	G	35	5.413636	0.96072	.	.	ENSG00000162923	ENST00000414423;ENST00000366852	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1918	0.59715	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000355817:S48X	S	-	2	0	WDR26	222688288	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.614000	0.61183	1.605000	0.50152	0.543000	0.68304	TCG	WDR26	-	NULL	ENSG00000162923		0.706	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	-	0.00	101	0	G	NM_025160		224621665	-1	tier1	-	no_errors	ENST00000414423	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49050296	49050296	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:49050296G>T	ENST00000608424.1	+	2	1368	c.1329G>T	c.(1327-1329)tgG>tgT	p.W443C	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.W473C|WDR6_ENST00000448293.1_Missense_Mutation_p.W392C|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	443					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCTTGAGCTGGGCCCTGCGTG	0.602																																																	0													71.0	53.0	59.0					3																	49050296		2203	4300	6503	SO:0001583	missense	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1329G>T	3.37:g.49050296G>T	ENSP00000477389:p.Trp443Cys		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W473C	ENST00000608424.1	37	c.1419		3	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603133	0.66445	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.69435	-0.4;2.12	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.119145	0.64402	D	0.000009	T	0.80701	0.4673	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.87578	0.998;0.994;0.696	T	0.80011	-0.1561	10	0.46703	T	0.11	-18.7137	19.1575	0.93517	0.0:0.0:1.0:0.0	.	314;443;392	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	C	473;392	ENSP00000378857:W473C;ENSP00000413432:W392C	ENSP00000378857:W473C	W	+	3	0	WDR6	49025300	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.118000	0.77137	2.537000	0.85549	0.561000	0.74099	TGG	WDR6	-	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	ENSG00000178252		0.602	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1		0.00	53	0	G			49050296	+1			no_errors	ENST00000395474	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T
WDR87	83889	genome.wustl.edu	37	19	38383990	38383990	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:38383990G>T	ENST00000303868.5	-	4	2460	c.2236C>A	c.(2236-2238)Cat>Aat	p.H746N	WDR87_ENST00000447313.2_Missense_Mutation_p.H785N	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	746										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AGCACATAATGGCATTGGTAA	0.483																																																	0													153.0	129.0	136.0					19																	38383990		692	1591	2283	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2236C>A	19.37:g.38383990G>T	ENSP00000368025:p.His746Asn		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H785N	ENST00000303868.5	37	c.2353	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093184	0.20471	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10192	2.9;2.9	5.77	2.38	0.29361	.	1.073430	0.07129	N	0.845216	T	0.12263	0.0298	M	0.63428	1.95	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.18561	0.022;0.022	T	0.41466	-0.9507	10	0.21014	T	0.42	-4.2599	5.6056	0.17377	0.169:0.0:0.6743:0.1567	.	746;785	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	N	785;746	ENSP00000405012:H785N;ENSP00000368025:H746N	ENSP00000368025:H746N	H	-	1	0	WDR87	43075830	0.028000	0.19301	0.118000	0.21660	0.006000	0.05464	1.510000	0.35790	0.736000	0.32559	0.643000	0.83706	CAT	WDR87	-	NULL	ENSG00000171804		0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	-	0.00	32	0	G	XM_940478		38383990	-1	tier1	-	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.001	T
WNK2	65268	genome.wustl.edu	37	9	96051087	96051087	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:96051087G>T	ENST00000297954.4	+	20	4162	c.4162G>T	c.(4162-4164)Gac>Tac	p.D1388Y	WNK2_ENST00000349097.3_Missense_Mutation_p.D1000Y|WNK2_ENST00000427277.2_Missense_Mutation_p.D963Y|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.D1351Y|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1388					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCTATAAAGACCAGCTGTC	0.542																																																	0													15.0	15.0	15.0					9																	96051087		2186	4255	6441	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4162G>T	9.37:g.96051087G>T	ENSP00000297954:p.Asp1388Tyr		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D1388Y	ENST00000297954.4	37	c.4162		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.08|19.08|19.08	3.758258|3.758258|3.758258	0.69763|0.69763|0.69763	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251|ENST00000411624	T;T;T;T|T;T|.	0.38887|0.33865|.	1.11;1.11;1.11;1.11|1.39;1.39|.	5.83|5.83|5.83	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.313994|.|.	0.32719|.|.	N|.|.	0.005731|.|.	T|T|T	0.69424|0.69424|0.69424	0.3109|0.3109|0.3109	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;D|.|.	0.89917|.|.	0.999;0.89;1.0;1.0|.|.	D;B;D;D|.|.	0.87578|.|.	0.979;0.286;0.998;0.998|.|.	T|T|T	0.68443|0.68443|0.68443	-0.5407|-0.5407|-0.5407	10|7|5	0.52906|0.17369|.	T|T|.	0.07|0.5|.	.|.|.	13.3178|13.3178|13.3178	0.60417|0.60417|0.60417	0.0:0.0:0.8416:0.1584|0.0:0.0:0.8416:0.1584|0.0:0.0:0.8416:0.1584	.|.|.	1351;954;1351;1388|.|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;WNK2_HUMAN|.|.	Y|N|I	1388;1351;1000;963|1346;147|954	ENSP00000297954:D1388Y;ENSP00000378860:D1351Y;ENSP00000297876:D1000Y;ENSP00000411181:D963Y|ENSP00000415038:K1346N;ENSP00000390441:K147N|.	ENSP00000297954:D1388Y|ENSP00000415038:K1346N|.	D|K|R	+|+|+	1|3|2	0|2|0	WNK2|WNK2|WNK2	95090908|95090908|95090908	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.899000|0.899000|0.899000	0.35326|0.35326|0.35326	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	5.058000|5.058000|5.058000	0.64300|0.64300|0.64300	1.450000|1.450000|1.450000	0.47717|0.47717|0.47717	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|AAG|AGA	WNK2	-	NULL	ENSG00000165238		0.542	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0.00	39	0	G	NM_006648		96051087	+1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.983	T
ZC3H13	23091	genome.wustl.edu	37	13	46538102	46538102	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:46538102G>T	ENST00000242848.4	-	17	4895	c.4547C>A	c.(4546-4548)gCt>gAt	p.A1516D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.A1517D|ZC3H13_ENST00000378921.2_Missense_Mutation_p.A472D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1516							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAAGAGTGCAGCCCCAGGCTC	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													76.0	76.0	76.0					13																	46538102		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4547C>A	13.37:g.46538102G>T	ENSP00000242848:p.Ala1516Asp		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A1516D	ENST00000242848.4	37	c.4547		13	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065579	0.76187	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.56611	2.05;0.45;0.99	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000019	T	0.71584	0.3357	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.72567	-0.4254	10	0.87932	D	0	.	19.8984	0.96975	0.0:0.0:1.0:0.0	.	1516;1517;101	Q5T200;Q5T200-2;B3KMG8	ZC3HD_HUMAN;.;.	D	1516;472;1517	ENSP00000242848:A1516D;ENSP00000368201:A472D;ENSP00000282007:A1517D	ENSP00000242848:A1516D	A	-	2	0	ZC3H13	45436103	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	GCT	ZC3H13	-	NULL	ENSG00000123200		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0.00	33	0	G	NM_015070		46538102	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
ZNF252P	286101	genome.wustl.edu	37	8	146202869	146202869	+	RNA	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:146202869G>T	ENST00000426361.2	-	0	1315					NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						ATTCTCTGATGCTGAATGAGA	0.388																																																	0																																												0			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146202869G>T				RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633662	0.47049	.	.	ENSG00000196922	ENST00000426361;ENST00000355436	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	T	0.74442	0.3717	.	.	.	0.26993	N	0.965099	D	0.89917	1.0	D	0.85130	0.997	T	0.82916	-0.0220	6	0.87932	D	0	.	12.7828	0.57487	0.0:0.0:1.0:0.0	.	369	E9PMP9	.	N	369;348	.	ENSP00000347611:H348N	H	-	1	0	ZNF252	146173673	0.756000	0.28383	0.033000	0.17914	0.444000	0.32077	2.338000	0.43957	1.479000	0.48272	0.514000	0.50259	CAT	ZNF252P	-	-	ENSG00000196922		0.388	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P	HGNC	pseudogene	OTTHUMT00000451422.1	-	0.00	51	0	G	NR_023392		146202869	-1	tier1	-	no_errors	ENST00000426361	ensembl	human	known	74_37	rna	15.00	17	3	SNP	1.000	T
ZNF268	10795	genome.wustl.edu	37	12	133779327	133779327	+	Missense_Mutation	SNP	G	G	T	rs200677881	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:133779327G>T	ENST00000536435.2	+	6	1385	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF268_ENST00000537565.1_Missense_Mutation_p.R191I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R352I|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	352					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|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)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATACATCAGAGAATTCACACA	0.408													g|||	2	0.000399361	0.0	0.0	5008	,	,		21523	0.0		0.002	False		,,,				2504	0.0																0								G	ILE/ARG,ILE/ARG,,,,,,ILE/ARG,	0,4318		0,0,2159	31.0	34.0	33.0		1055,806,,,,,,1055,	0.6	0.0	12		33	13,8541		0,13,4264	yes	missense,missense,utr-3,utr-3,utr-3,utr-3,utr-3,missense,utr-3	ZNF268	NM_001165881.2,NM_001165882.2,NM_001165883.1,NM_001165884.2,NM_001165885.1,NM_001165886.1,NM_001165887.1,NM_003415.2,NM_152943.2	97,97,,,,,,97,	0,13,6423	TT,TG,GG		0.152,0.0,0.101	possibly-damaging,possibly-damaging,,,,,,possibly-damaging,	352/948,269/865,,,,,,352/948,	133779327	13,12859	2159	4277	6436	SO:0001583	missense	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1055G>T	12.37:g.133779327G>T	ENSP00000444412:p.Arg352Ile		Q8TDG8|Q96RH4|Q9BZJ9	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.R352I	ENST00000536435.2	37	c.1055	CCDS45012.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.434	1.086221	0.20390	0.0	0.00152	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.24908	1.83;1.83	4.65	0.569	0.17340	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	M	0.73962	2.25	0.34265	D	0.68037	P;P	0.43477	0.808;0.654	B;B	0.24155	0.051;0.044	T	0.30937	-0.9961	8	.	.	.	.	5.2339	0.15436	0.2456:0.0:0.6115:0.1429	.	352;191	Q14587;Q14587-2	ZN268_HUMAN;.	I	352;352;191;191	ENSP00000228289:R352I;ENSP00000445713:R191I	.	R	+	2	0	ZNF268	132289400	0.000000	0.05858	0.034000	0.17996	0.023000	0.10783	0.043000	0.13971	0.212000	0.20703	-0.142000	0.14014	AGA	ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000090612		0.408	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2		0.00	39	0	G	NM_152943		133779327	+1			no_errors	ENST00000228289	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.852	T
ZNF408	79797	genome.wustl.edu	37	11	46727347	46727347	+	Silent	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:46727347G>T	ENST00000311764.2	+	5	2327	c.2097G>T	c.(2095-2097)gtG>gtT	p.V699V		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	699					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGCCTGGTGCTAATCCATA	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													31.0	29.0	30.0					11																	46727347		2201	4299	6500	SO:0001819	synonymous_variant	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.2097G>T	11.37:g.46727347G>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V699	ENST00000311764.2	37	c.2097	CCDS7923.1	11																																																																																			ZNF408	-	NULL	ENSG00000175213		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0.00	45	0	G	NM_024741		46727347	+1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.628	T
ZNF425	155054	genome.wustl.edu	37	7	148800770	148800770	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:148800770G>T	ENST00000378061.2	-	4	2325	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	731					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACGTACGTGAAGCTCCTTC	0.567																																																	0													70.0	62.0	64.0					7																	148800770		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2193C>A	7.37:g.148800770G>T	ENSP00000367300:p.Phe731Leu		B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.F731L	ENST00000378061.2	37	c.2193	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815593	0.70912	.	.	ENSG00000204947	ENST00000378061	T	0.46063	0.88	3.25	-0.889	0.10580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65688	0.2715	M	0.91038	3.17	0.26753	N	0.97016	D	0.89917	1.0	D	0.78314	0.991	T	0.55835	-0.8078	9	0.72032	D	0.01	.	7.342	0.26641	0.4077:0.0:0.5923:0.0	.	731	Q6IV72	ZN425_HUMAN	L	731	ENSP00000367300:F731L	ENSP00000367300:F731L	F	-	3	2	ZNF425	148431703	0.050000	0.20438	0.032000	0.17829	0.857000	0.48899	0.190000	0.17057	-0.322000	0.08615	0.655000	0.94253	TTC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.567	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	53	0	G	XM_088140		148800770	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.948	T
ZNF425	155054	genome.wustl.edu	37	7	148802607	148802607	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:148802607G>T	ENST00000378061.2	-	4	488	c.356C>A	c.(355-357)cCt>cAt	p.P119H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	119					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTTTTTGAGGACCATTTAA	0.443																																																	0													109.0	102.0	104.0					7																	148802607		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.356C>A	7.37:g.148802607G>T	ENSP00000367300:p.Pro119His		B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.P119H	ENST00000378061.2	37	c.356	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181489	0.21787	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07327	3.2;4.97	2.75	0.246	0.15516	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.31751	0.135	T	0.43734	-0.9373	9	0.18276	T	0.48	.	5.655	0.17637	0.6997:0.0:0.3003:0.0	.	119	Q6IV72	ZN425_HUMAN	H	119;141	ENSP00000367300:P119H;ENSP00000420379:P141H	ENSP00000367300:P119H	P	-	2	0	ZNF425	148433540	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.302000	0.08221	0.201000	0.20466	-0.302000	0.09304	CCT	ZNF425	-	NULL	ENSG00000204947		0.443	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	27	0	G	XM_088140		148802607	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.017	T
ZNF585B	92285	genome.wustl.edu	37	19	37677678	37677678	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:37677678T>C	ENST00000532828.2	-	5	1012	c.761A>G	c.(760-762)aAg>aGg	p.K254R	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.K199R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTGTGGACTTTTGTGTGAA	0.418																																					Melanoma(93;882 1454 18863 28917 48427)												0													184.0	179.0	180.0					19																	37677678		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.761A>G	19.37:g.37677678T>C	ENSP00000433773:p.Lys254Arg		Q8IZD3|Q96JW6	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.K254R	ENST00000532828.2	37	c.761	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	T	0	-2.746519	0.00086	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.15834	2.39;2.39	2.28	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001375	T	0.09247	0.0228	N	0.11284	0.12	0.19300	N	0.999971	B;D	0.55172	0.019;0.97	B;P	0.48704	0.012;0.587	T	0.26643	-1.0097	10	0.14656	T	0.56	.	6.4859	0.22089	0.0:0.1477:0.0:0.8523	.	199;254	E9PQH3;Q52M93	.;Z585B_HUMAN	R	199;254	ENSP00000436774:K199R;ENSP00000433773:K254R	ENSP00000436774:K199R	K	-	2	0	ZNF585B	42369518	0.000000	0.05858	0.995000	0.50966	0.006000	0.05464	-0.877000	0.04197	1.043000	0.40175	0.254000	0.18369	AAG	ZNF585B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0.00	76	0	T	NM_152279		37677678	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	84.88	13	73	SNP	0.001	C
ZNF473	25888	genome.wustl.edu	37	19	50542467	50542467	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:50542467G>T	ENST00000595661.1	+	4	554	c.59G>T	c.(58-60)tGg>tTg	p.W20L	ZNF473_ENST00000445728.3_Missense_Mutation_p.W8L|ZNF473_ENST00000270617.3_Missense_Mutation_p.W20L|ZNF473_ENST00000601364.1_Missense_Mutation_p.W20L|ZNF473_ENST00000391821.2_Missense_Mutation_p.W20L			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTGGGAGACTGGGAGCAGCTC	0.582																																																	0													207.0	166.0	180.0					19																	50542467		2203	4300	6503	SO:0001583	missense	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.59G>T	19.37:g.50542467G>T	ENSP00000472808:p.Trp20Leu		A8K8T7|Q9ULS9|Q9Y4Q7	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.W20L	ENST00000595661.1	37	c.59	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711668	0.48517	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09630	2.96;2.96;2.96	5.11	4.08	0.47627	Krueppel-associated box (4);	0.000000	0.38548	N	0.001648	T	0.34308	0.0893	M	0.86268	2.805	0.37728	D	0.925177	D	0.89917	1.0	D	0.83275	0.996	T	0.23833	-1.0177	10	0.66056	D	0.02	-15.7781	11.4384	0.50081	0.0891:0.0:0.9109:0.0	.	20	Q8WTR7	ZN473_HUMAN	L	20;20;8	ENSP00000270617:W20L;ENSP00000375697:W20L;ENSP00000388961:W8L	ENSP00000270617:W20L	W	+	2	0	ZNF473	55234279	1.000000	0.71417	0.988000	0.46212	0.006000	0.05464	3.585000	0.53943	2.833000	0.97629	0.650000	0.86243	TGG	ZNF473	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142528		0.582	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	-	0.00	84	0	G	XM_046390		50542467	+1	tier1	-	no_errors	ENST00000270617	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.995	T
ZNF791	163049	genome.wustl.edu	37	19	12738936	12738936	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:12738936G>T	ENST00000343325.4	+	4	755	c.593G>T	c.(592-594)aGt>aTt	p.S198I	AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S166I|ZNF791_ENST00000540038.1_Missense_Mutation_p.S89I|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAGCTCTTAGTTGTTCCAGT	0.408																																																	0													64.0	66.0	65.0					19																	12738936		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.593G>T	19.37:g.12738936G>T	ENSP00000342974:p.Ser198Ile		B7Z586|Q8NC99	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.S198I	ENST00000343325.4	37	c.593	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775803	0.02951	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.05025	3.51;3.51;3.51	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.17278	0.47	0.09310	N	0.999999	P	0.37864	0.61	B	0.31686	0.134	T	0.44620	-0.9316	9	0.27082	T	0.32	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	198	Q3KP31	ZN791_HUMAN	I	198;180;166;89	ENSP00000342974:S198I;ENSP00000441761:S166I;ENSP00000441038:S89I	ENSP00000342974:S198I	S	+	2	0	ZNF791	12599936	0.000000	0.05858	0.067000	0.19924	0.531000	0.34715	-0.369000	0.07533	1.007000	0.39238	0.491000	0.48974	AGT	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0.00	69	0	G	NM_153358		12738936	+1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	6.90	53	4	SNP	0.009	T
ZNF626	199777	genome.wustl.edu	37	19	20807354	20807354	+	Silent	SNP	A	A	G			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:20807354A>G	ENST00000601440.1	-	4	1475	c.1329T>C	c.(1327-1329)caT>caC	p.H443H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTCTCCTATGTGTAGTAA	0.373																																																	0													65.0	59.0	61.0					19																	20807354		2109	4259	6368	SO:0001819	synonymous_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1329T>C	19.37:g.20807354A>G			Q8N8T4|Q96QM1	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.H443	ENST00000601440.1	37	c.1329	CCDS42535.1	19																																																																																			ZNF626	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.373	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2		0.00	26	0	A	NM_145297		20807354	-1			no_errors	ENST00000601440	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.941	G
ZNF616	90317	genome.wustl.edu	37	19	52618234	52618234	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:52618234C>T	ENST00000600228.1	-	4	2444	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	728					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.R728Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGAAAACAACCGCCCAAAGGC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											134.0	134.0	134.0					19																	52618234		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2183G>A	19.37:g.52618234C>T	ENSP00000471000:p.Arg728Gln		B3KRV1|Q0P658|Q658V7	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.R728Q	ENST00000600228.1	37	c.2183	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271409	0.05716	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.05259	-0.085	0.09310	N	1	P	0.38020	0.615	B	0.21151	0.033	T	0.29119	-1.0022	8	0.05959	T	0.93	.	5.4344	0.16472	0.0:0.346:0.0:0.654	.	728	Q08AN1	ZN616_HUMAN	Q	728	.	ENSP00000328722:R728Q	R	-	2	0	ZNF616	57310046	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.171000	0.00573	-0.580000	0.05944	-0.350000	0.07774	CGG	ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0.00	74	0	C	XM_030892		52618234	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.010	T
ZNF99	7652	genome.wustl.edu	37	19	22939535	22939535	+	IGR	SNP	T	T	C	rs74170737		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:22939535T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.K879R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.348																																																	0													35.0	47.0	44.0					19																	22939535		1865	4207	6072	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939535T>C			M0R335	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.K879R	ENST00000596209.1	37	c.2636	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	7.428	0.638174	0.14386	.	.	ENSG00000213973	ENST00000397104	T	0.49720	0.77	1.32	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55784	0.1942	.	.	.	0.09310	N	1	D	0.60160	0.987	D	0.68483	0.958	T	0.43426	-0.9392	8	0.49607	T	0.09	.	2.0533	0.03575	0.2565:0.1821:0.0:0.5614	.	879	A8MXY4	ZNF99_HUMAN	R	879	ENSP00000380293:K879R	ENSP00000380293:K879R	K	-	2	0	ZNF99	22731375	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.016000	0.13377	-0.202000	0.10268	0.138000	0.15974	AAG	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	27	0	T	XM_065124		22939535	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.281	C
ZNF835	90485	genome.wustl.edu	37	19	57176549	57176549	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:57176549G>T	ENST00000537055.2	-	2	249	c.18C>A	c.(16-18)agC>agA	p.S6R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	6					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGAGGGCGACGCTCAAGAGTC	0.507																																																	0													60.0	62.0	61.0					19																	57176549		1956	4145	6101	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.18C>A	19.37:g.57176549G>T	ENSP00000444747:p.Ser6Arg		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S6R	ENST00000537055.2	37	c.18	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	g	8.062	0.768396	0.15983	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06608	3.28	2.19	-3.13	0.05266	.	.	.	.	.	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.25312	0.123	B	0.23150	0.044	T	0.47560	-0.9108	9	0.15066	T	0.55	.	3.7962	0.08740	0.28:0.4029:0.3172:0.0	.	28	Q9Y2P0	ZN835_HUMAN	R	28;6	ENSP00000444747:S6R	ENSP00000341756:S28R	S	-	3	2	ZNF835	61868361	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.970000	0.03810	-0.648000	0.05437	-0.979000	0.02580	AGC	ZNF835	-	NULL	ENSG00000127903		0.507	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1		0.00	56	0	G	NM_001005850		57176549	-1			no_errors	ENST00000537055	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	T
ZPBP	11055	genome.wustl.edu	37	7	50022988	50022988	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:50022988G>T	ENST00000046087.2	-	7	980	c.911C>A	c.(910-912)cCa>cAa	p.P304Q	ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.P303Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	304					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCCATATCCTGGAAAGCAGCG	0.343																																																	0													92.0	87.0	89.0					7																	50022988		2203	4300	6503	SO:0001583	missense	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.911C>A	7.37:g.50022988G>T	ENSP00000046087:p.Pro304Gln		A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.P304Q	ENST00000046087.2	37	c.911	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789588	0.70337	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.68331	-0.32;-0.32	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000011	D	0.82962	0.5151	M	0.80183	2.485	0.40033	D	0.97555	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83663	0.0162	9	.	.	.	-16.7628	17.8445	0.88725	0.0:0.0:1.0:0.0	.	303;304	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	Q	304;303	ENSP00000046087:P304Q;ENSP00000402071:P303Q	.	P	-	2	0	ZPBP	49993534	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	2.733000	0.93635	0.637000	0.83480	CCA	ZPBP	-	pfam_Sp38-bd	ENSG00000042813		0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	-	0.00	48	0	G	NM_007009		50022988	-1	tier1	-	no_errors	ENST00000046087	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
ZRANB2	9406	genome.wustl.edu	37	1	71537931	71537931	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:71537931C>T	ENST00000370920.3	-	6	687	c.386G>A	c.(385-387)cGt>cAt	p.R129H	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R129H	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	129					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTTCTTTTTACGTCCAAACTA	0.303																																																	0													46.0	47.0	46.0					1																	71537931		2202	4296	6498	SO:0001583	missense	0			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.386G>A	1.37:g.71537931C>T	ENSP00000359958:p.Arg129His		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.R129H	ENST00000370920.3	37	c.386	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861215	0.71949	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.71222	-0.55;-0.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.80982	2.52	0.80722	D	1	D;D	0.56287	0.975;0.973	B;P	0.50082	0.375;0.63	T	0.80705	-0.1263	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	129;129	O95218;O95218-2	ZRAB2_HUMAN;.	H	129	ENSP00000359958:R129H;ENSP00000254821:R129H	ENSP00000254821:R129H	R	-	2	0	ZRANB2	71310519	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.340000	0.65958	2.619000	0.88677	0.460000	0.39030	CGT	ZRANB2	-	pirsf_UCP037956_Znf_RanB2	ENSG00000132485		0.303	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1		0.00	37	0	C	NM_203350		71537931	-1			no_errors	ENST00000370920	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
ZRANB3	84083	genome.wustl.edu	37	2	135965365	135965365	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:135965365G>T	ENST00000264159.6	-	19	2764	c.2648C>A	c.(2647-2649)cCa>cAa	p.P883Q	ZRANB3_ENST00000401392.1_Missense_Mutation_p.P881Q|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P881Q|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	883					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGTATGGATTTAGAAA	0.393																																																	0													82.0	76.0	78.0					2																	135965365		1920	4137	6057	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2648C>A	2.37:g.135965365G>T	ENSP00000264159:p.Pro883Gln		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P883Q	ENST00000264159.6	37	c.2648	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980882	0.34942	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90676	-2.71;-2.71;-2.7	5.49	4.57	0.56435	.	0.418829	0.27415	N	0.019465	D	0.89019	0.6596	M	0.67953	2.075	0.09310	N	1	P;P	0.49961	0.93;0.928	B;P	0.44860	0.289;0.462	D	0.84001	0.0343	10	0.56958	D	0.05	-14.5375	8.8266	0.35059	0.1088:0.1497:0.7415:0.0	.	883;881	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Q	346;346;881;883;881	ENSP00000383979:P881Q;ENSP00000264159:P883Q;ENSP00000441320:P881Q	ENSP00000264159:P883Q	P	-	2	0	ZRANB3	135681835	0.973000	0.33851	0.420000	0.26596	0.008000	0.06430	2.703000	0.47110	2.752000	0.94435	0.655000	0.94253	CCA	ZRANB3	-	NULL	ENSG00000121988		0.393	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0.00	34	0	G	NM_032143		135965365	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.014	T
ZSCAN29	146050	genome.wustl.edu	37	15	43654131	43654131	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:43654131C>T	ENST00000396976.2	-	5	1833	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	ZSCAN29_ENST00000562072.1_Silent_p.K495K|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.A178T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.A177T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	567					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)		TCAAATCCAGCTTCAAAACCT	0.348																																																	0													46.0	50.0	48.0					15																	43654131		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.1699G>A	15.37:g.43654131C>T	ENSP00000380174:p.Ala567Thr		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.A567T	ENST00000396976.2	37	c.1699	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402442	0.11696	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.07688	3.17;3.18	4.67	4.67	0.58626	.	0.204018	0.34676	N	0.003768	T	0.24236	0.0587	M	0.72118	2.19	0.35213	D	0.775375	P;D	0.69078	0.582;0.997	B;D	0.77004	0.328;0.989	T	0.19976	-1.0289	10	0.11182	T	0.66	-6.2944	15.1234	0.72463	0.0:1.0:0.0:0.0	.	178;567	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	T	567;178	ENSP00000380174:A567T;ENSP00000380170:A178T	ENSP00000380170:A178T	A	-	1	0	ZSCAN29	41441423	0.025000	0.19082	1.000000	0.80357	0.657000	0.38888	0.820000	0.27323	2.415000	0.81967	0.655000	0.94253	GCT	ZSCAN29	-	NULL	ENSG00000140265		0.348	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	-	0.00	26	0	C	NM_152455		43654131	-1	tier1	-	no_errors	ENST00000396976	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T
