#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AATK-AS1	388428	genome.wustl.edu	37	17	79152851	79152851	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79152851G>C	ENST00000414089.1	+	0	543				AATK-AS1_ENST00000571031.1_RNA	NR_027255.1				AATK antisense RNA 1																		CTGCAGCCCCGAGATGTAAAC	0.642																																																	0													71.0	96.0	89.0					17																	79152851		692	1591	2283			388428					17q25.3	2012-10-12	2012-08-15		ENSG00000225180	ENSG00000225180		"""Long non-coding RNAs"""	40053	non-coding RNA	RNA, long non-coding			"""AATK antisense RNA 1 (non-protein coding)"""				Standard	NR_027255		Approved		uc010wuk.1		OTTHUMG00000150182		17.37:g.79152851G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000414089.1	37	NULL		17																																																																																			AATK-AS1	-	-		0.642	AATK-AS1-001	KNOWN	basic	antisense	AATK-AS1	HGNC	antisense	OTTHUMT00000316740.1	G			79152851	+1	no_errors	ENST00000414089	ensembl	human	known	70_37	rna	SNP	0.004	C
ABCB11	8647	genome.wustl.edu	37	2	169847359	169847359	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:169847359G>C	ENST00000263817.6	-	9	984	c.860C>G	c.(859-861)tCa>tGa	p.S287*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	287	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGTTCTCATTGATGAAATGAC	0.398																																																	0													195.0	197.0	196.0					2																	169847359		1904	4118	6022	SO:0001587	stop_gained	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.860C>G	2.37:g.169847359G>C	ENSP00000263817:p.Ser287*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S287*	ENST00000263817.6	37	c.860	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.302571	0.98196	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.53	5.53	0.82687	.	0.441470	0.26995	N	0.021457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.32	0.74115	0.0:0.1393:0.8607:0.0	.	.	.	.	X	287	.	ENSP00000263817:S287X	S	-	2	0	ABCB11	169555605	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.798000	0.85924	2.756000	0.94617	0.655000	0.94253	TCA	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169847359	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ABCB4	5244	genome.wustl.edu	37	7	87104772	87104772	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:87104772C>G	ENST00000265723.4	-	2	121	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	ABCB4_ENST00000453593.1_Missense_Mutation_p.E4Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.E4Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.E4Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.E4Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	4					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTGCCGCCTCAAGATCCATC	0.657																																																	0													61.0	57.0	58.0					7																	87104772		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.10G>C	7.37:g.87104772C>G	ENSP00000265723:p.Glu4Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E4Q	ENST00000265723.4	37	c.10	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807981	0.50421	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87179	-2.15;-2.22;-2.19;-2.22;-2.15	3.85	2.94	0.34122	.	.	.	.	.	T	0.77519	0.4142	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.67317	-0.5701	9	0.59425	D	0.04	-0.5201	9.0028	0.36092	0.0:0.7729:0.2271:0.0	.	4;4;4;4	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	Q	4	ENSP00000352135:E4Q;ENSP00000351172:E4Q;ENSP00000265723:E4Q;ENSP00000392983:E4Q;ENSP00000437465:E4Q	ENSP00000265723:E4Q	E	-	1	0	ABCB4	86942708	0.183000	0.23186	0.023000	0.16930	0.881000	0.50899	1.672000	0.37523	0.791000	0.33826	0.637000	0.83480	GAG	ABCB4	-	NULL		0.657	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87104772	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	missense	SNP	0.036	G
ABCC4	10257	genome.wustl.edu	37	13	95727803	95727803	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:95727803G>A	ENST00000376887.4	-	22	2803	c.2689C>T	c.(2689-2691)Cgg>Tgg	p.R897W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R850W|ABCC4_ENST00000474158.1_5'Flank	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	897	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R897W(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTGGACTCCGAGCTGGGGAA	0.532																																																	2	Substitution - Missense(2)	large_intestine(2)											73.0	73.0	73.0					13																	95727803		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2689C>T	13.37:g.95727803G>A	ENSP00000366084:p.Arg897Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.R897W	ENST00000376887.4	37	c.2689	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644179	0.67244	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90004	-2.6;-2.6	5.39	5.39	0.77823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.99327	1.0908	10	0.87932	D	0	.	19.1567	0.93514	0.0:0.0:1.0:0.0	.	850;897	O15439-2;O15439	.;MRP4_HUMAN	W	850;897	ENSP00000388657:R850W;ENSP00000366084:R897W	ENSP00000366084:R897W	R	-	1	2	ABCC4	94525804	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	7.592000	0.82676	2.508000	0.84585	0.563000	0.77884	CGG	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.532	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	G	NM_005845		95727803	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	1.000	A
ABHD13	84945	genome.wustl.edu	37	13	108881678	108881678	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:108881678C>T	ENST00000375898.3	+	2	413	c.112C>T	c.(112-114)Cat>Tat	p.H38Y		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	38						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGTGACTTTTCATCTGTATGG	0.373																																					Pancreas(22;506 789 38166 45896 51596)												0													133.0	134.0	134.0					13																	108881678		2203	4299	6502	SO:0001583	missense	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.112C>T	13.37:g.108881678C>T	ENSP00000365063:p.His38Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AXE1	p.H38Y	ENST00000375898.3	37	c.112	CCDS32007.1	13	.	.	.	.	.	.	.	.	.	.	C	1.057	-0.673939	0.03378	.	.	ENSG00000139826	ENST00000375898	T	0.40756	1.02	5.75	5.75	0.90469	.	0.050740	0.85682	D	0.000000	T	0.25344	0.0616	N	0.19112	0.55	0.80722	D	1	B	0.17667	0.023	B	0.11329	0.006	T	0.08207	-1.0733	10	0.02654	T	1	-24.1918	13.8438	0.63455	0.1526:0.8474:0.0:0.0	.	38	Q7L211	ABHDD_HUMAN	Y	38	ENSP00000365063:H38Y	ENSP00000365063:H38Y	H	+	1	0	ABHD13	107679679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.532000	0.67154	2.701000	0.92244	0.557000	0.71058	CAT	ABHD13	-	NULL		0.373	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD13	HGNC	protein_coding	OTTHUMT00000045743.1	C	NM_032859		108881678	+1	no_errors	ENST00000375898	ensembl	human	known	70_37	missense	SNP	1.000	T
ACACA	31	genome.wustl.edu	37	17	35605034	35605034	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:35605034G>A	ENST00000394406.2	-	18	2289	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	ACACA_ENST00000360679.3_Missense_Mutation_p.S642L|ACACA_ENST00000353139.5_Missense_Mutation_p.S737L|ACACA_ENST00000335166.5_Missense_Mutation_p.S622L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	700					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTACACATGAGCCATTCAT	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													167.0	128.0	141.0					17																	35605034		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2099C>T	17.37:g.35605034G>A	ENSP00000377928:p.Ser700Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S737L	ENST00000394406.2	37	c.2210	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.168712	0.94768	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95690	-3.78;-3.77;-3.78;-3.77	5.03	5.03	0.67393	.	0.058209	0.64402	D	0.000001	D	0.96679	0.8916	M	0.87900	2.915	0.80722	D	1	P;P;P	0.45126	0.624;0.608;0.851	P;B;P	0.47299	0.543;0.273;0.543	D	0.97483	1.0048	10	0.72032	D	0.01	-7.9886	17.5306	0.87813	0.0:0.0:1.0:0.0	.	737;700;642	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	L	737;642;700;724;622	ENSP00000344789:S737L;ENSP00000353898:S642L;ENSP00000377928:S700L;ENSP00000335323:S622L	ENSP00000335323:S622L	S	-	2	0	ACACA	32679147	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.601000	0.98297	2.620000	0.88729	0.655000	0.94253	TCA	ACACA	-	NULL		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35605034	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	1.000	A
TADA2A	6871	genome.wustl.edu	37	17	35766393	35766393	+	5'Flank	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:35766393C>G	ENST00000394395.2	+	0	0				ACACA_ENST00000589665.1_5'UTR|ACACA_ENST00000416895.1_5'UTR|TADA2A_ENST00000417170.1_5'Flank|TADA2A_ENST00000586023.1_5'Flank|ACACA_ENST00000353139.5_5'UTR|RP11-378E13.4_ENST00000590364.1_RNA|TADA2A_ENST00000225396.6_5'Flank	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ACCACATCCTCTCATCATTGC	0.438																																																	0													222.0	229.0	227.0					17																	35766393		2083	4219	6302	SO:0001631	upstream_gene_variant	31			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469		17.37:g.35766393C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	RNA	SNP	-	NULL	ENST00000394395.2	37	NULL	CCDS11319.1	17																																																																																			ACACA	-	-		0.438	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256677.3	C	NM_001488		35766393	-1	no_errors	ENST00000587545	ensembl	human	putative	70_37	rna	SNP	0.978	G
ACAT2	39	genome.wustl.edu	37	6	160183958	160183958	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:160183958C>A	ENST00000367048.4	+	2	1823	c.63C>A	c.(61-63)ttC>ttA	p.F21L	SOD2_ENST00000535372.1_5'Flank|ACAT2_ENST00000541436.1_Missense_Mutation_p.F50L|SOD2_ENST00000546087.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	21					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TAGGTTCCTTCAATGGTGCCT	0.557																																																	0													169.0	156.0	161.0					6																	160183958		2203	4300	6503	SO:0001583	missense	39			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.63C>A	6.37:g.160183958C>A	ENSP00000356015:p.Phe21Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.F50L	ENST00000367048.4	37	c.150	CCDS5268.1	6	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124620	0.37533	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	T;T	0.42131	0.98;0.98	5.12	3.31	0.37934	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.115474	0.64402	D	0.000013	T	0.25791	0.0628	M	0.71581	2.175	0.58432	D	0.999999	B;B	0.20368	0.044;0.003	B;B	0.15052	0.012;0.004	T	0.29701	-1.0003	10	0.66056	D	0.02	-15.7808	9.5283	0.39178	0.0:0.7728:0.0:0.2272	.	50;21	B7Z233;Q9BWD1	.;THIC_HUMAN	L	21;50	ENSP00000356015:F21L;ENSP00000437850:F50L	ENSP00000356015:F21L	F	+	3	2	ACAT2	160103948	1.000000	0.71417	0.997000	0.53966	0.133000	0.20885	1.399000	0.34566	1.299000	0.44798	0.555000	0.69702	TTC	ACAT2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase		0.557	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT2	HGNC	protein_coding	OTTHUMT00000042912.1	C	NM_005891		160183958	+1	no_errors	ENST00000541436	ensembl	human	known	70_37	missense	SNP	1.000	A
ACOT1	641371	genome.wustl.edu	37	14	74009782	74009782	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74009782G>A	ENST00000311148.4	+	3	997	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Intron|HEATR4_ENST00000553558.1_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	230					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GGGCTGCTTGGAATTTCCAAA	0.522																																																	0													58.0	49.0	52.0					14																	74009782		2197	4281	6478	SO:0001583	missense	641371			DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.689G>A	14.37:g.74009782G>A	ENSP00000311224:p.Gly230Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L173|Q3I5F9	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain	p.G230E	ENST00000311148.4	37	c.689	CCDS32117.1	14	.	.	.	.	.	.	.	.	.	.	-	19.00	3.741072	0.69304	.	.	ENSG00000184227	ENST00000311148	D	0.88975	-2.45	4.06	4.06	0.47325	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.108531	0.64402	D	0.000006	D	0.95828	0.8642	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	10	0.87932	D	0	-24.0445	16.8444	0.85976	0.0:0.0:1.0:0.0	.	230	Q86TX2	ACOT1_HUMAN	E	230	ENSP00000311224:G230E	ENSP00000311224:G230E	G	+	2	0	ACOT1	73079535	1.000000	0.71417	0.834000	0.33040	0.866000	0.49608	6.590000	0.74085	2.255000	0.74692	0.393000	0.25936	GGA	ACOT1	-	pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain		0.522	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT1	HGNC	protein_coding	OTTHUMT00000414432.1	G	NM_001037161		74009782	+1	no_errors	ENST00000311148	ensembl	human	known	70_37	missense	SNP	0.972	A
ACOT2	10965	genome.wustl.edu	37	14	74041640	74041640	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74041640G>A	ENST00000238651.5	+	3	1057	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ACOT2_ENST00000538782.1_Missense_Mutation_p.G95E|ACOT2_ENST00000557857.1_3'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	292					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGGCTGCTTGGAATTTCCAAA	0.507																																																	0													58.0	58.0	58.0					14																	74041640		2203	4297	6500	SO:0001583	missense	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.875G>A	14.37:g.74041640G>A	ENSP00000238651:p.Gly292Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.G292E	ENST00000238651.5	37	c.875	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671302	0.67814	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	D;D	0.89746	-2.56;-2.45	4.21	4.21	0.49690	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.108531	0.64402	D	0.000006	D	0.95079	0.8406	M	0.91768	3.24	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95773	0.8810	10	0.87932	D	0	-24.0445	12.4794	0.55833	0.0:0.1688:0.8312:0.0	.	230;292;95	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	E	95;292	ENSP00000440961:G95E;ENSP00000238651:G292E	ENSP00000238651:G292E	G	+	2	0	ACOT2	73111393	1.000000	0.71417	0.853000	0.33588	0.824000	0.46624	6.886000	0.75611	1.877000	0.54381	0.511000	0.50034	GGA	ACOT2	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain		0.507	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	G	NM_006821		74041640	+1	no_errors	ENST00000238651	ensembl	human	known	70_37	missense	SNP	0.990	A
ACSF3	197322	genome.wustl.edu	37	16	89212381	89212381	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:89212381G>A	ENST00000317447.4	+	10	1914	c.1537G>A	c.(1537-1539)Ggc>Agc	p.G513S	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.G248S|ACSF3_ENST00000406948.3_Missense_Mutation_p.G513S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	513					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TATGACATGGGGCCAGCGGGT	0.592																																																	0													175.0	162.0	166.0					16																	89212381		2198	4300	6498	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1537G>A	16.37:g.89212381G>A	ENSP00000320646:p.Gly513Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G513S	ENST00000317447.4	37	c.1537	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705067	0.88924	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	T;T;T	0.66995	-0.24;-0.24;-0.24	4.99	4.0	0.46444	.	0.303410	0.34986	N	0.003538	D	0.84124	0.5403	M	0.90309	3.105	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.87258	0.2277	10	0.87932	D	0	-19.5946	13.971	0.64240	0.0:0.0:0.8467:0.1533	.	513	Q4G176	ACSF3_HUMAN	S	513;513;248	ENSP00000320646:G513S;ENSP00000384627:G513S;ENSP00000367596:G248S	ENSP00000320646:G513S	G	+	1	0	ACSF3	87739882	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	8.124000	0.89588	1.024000	0.39682	0.467000	0.42956	GGC	ACSF3	-	NULL		0.592	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	G	NM_174917		89212381	+1	no_errors	ENST00000317447	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTG1	71	genome.wustl.edu	37	17	79478259	79478259	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79478259C>T	ENST00000575842.1	-	3	1183	c.757G>A	c.(757-759)Gag>Aag	p.E253K	ACTG1_ENST00000331925.2_Missense_Mutation_p.E253K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E253K|ACTG1_ENST00000573283.1_Missense_Mutation_p.E253K|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	253					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGGAACCGCTCATTGCCAATG	0.582																																																	0													70.0	70.0	70.0					17																	79478259		2203	4300	6503	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.757G>A	17.37:g.79478259C>T	ENSP00000458162:p.Glu253Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E253K	ENST00000575842.1	37	c.757	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	c	16.63	3.176651	0.57692	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.95205	-3.64	4.56	3.59	0.41128	.	0.000000	0.64402	D	0.000001	D	0.98128	0.9382	H	0.98133	4.155	0.51012	D	0.999901	D	0.76494	0.999	D	0.91635	0.999	D	0.98074	1.0400	10	0.87932	D	0	.	11.4231	0.49993	0.0:0.91:0.0:0.0899	.	253	P63261	ACTG_HUMAN	K	253;211	ENSP00000331514:E253K	ENSP00000331514:E253K	E	-	1	0	ACTG1	77092854	1.000000	0.71417	0.947000	0.38551	0.583000	0.36354	7.396000	0.79891	0.941000	0.37499	0.553000	0.69018	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.582	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478259	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTG1	71	genome.wustl.edu	37	17	79478517	79478517	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79478517C>T	ENST00000575842.1	-	3	925	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ACTG1_ENST00000331925.2_Missense_Mutation_p.E167K|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E167K|ACTG1_ENST00000573283.1_Missense_Mutation_p.E167K|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	167					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGTAGCCCTCGTAGATGGGC	0.647																																																	0													49.0	54.0	53.0					17																	79478517		2203	4299	6502	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.499G>A	17.37:g.79478517C>T	ENSP00000458162:p.Glu167Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E167K	ENST00000575842.1	37	c.499	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	c	15.25	2.779274	0.49891	.	.	ENSG00000184009	ENST00000331925	D	0.97959	-4.63	4.6	3.63	0.41609	.	0.000000	0.64402	D	0.000001	D	0.97751	0.9262	H	0.97491	4.015	0.51233	D	0.999915	P	0.37441	0.595	B	0.32022	0.139	D	0.96819	0.9602	10	0.87932	D	0	.	11.3424	0.49541	0.0:0.9096:0.0:0.0904	.	167	P63261	ACTG_HUMAN	K	167	ENSP00000331514:E167K	ENSP00000331514:E167K	E	-	1	0	ACTG1	77093112	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	7.446000	0.80609	0.941000	0.37499	0.558000	0.71614	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.647	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79478517	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTG1	71	genome.wustl.edu	37	17	79479015	79479015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79479015C>A	ENST00000575842.1	-	2	703	c.277G>T	c.(277-279)Gag>Tag	p.E93*	ACTG1_ENST00000331925.2_Nonsense_Mutation_p.E93*|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Nonsense_Mutation_p.E93*|ACTG1_ENST00000573283.1_Nonsense_Mutation_p.E93*|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	93					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGCGCAGCTCGTTGTAGAAG	0.617																																																	0													56.0	60.0	59.0					17																	79479015		2202	4300	6502	SO:0001587	stop_gained	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.277G>T	17.37:g.79479015C>A	ENSP00000458162:p.Glu93*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E93*	ENST00000575842.1	37	c.277	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325820	0.81580	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	.	.	.	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0358	0.71744	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000331514:E93X	E	-	1	0	ACTG1	77093610	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	7.227000	0.78070	2.066000	0.61787	0.563000	0.77884	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.617	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	C	NM_001614		79479015	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACVR1B	91	genome.wustl.edu	37	12	52376575	52376575	+	Intron	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:52376575G>T	ENST00000257963.4	+	5	888				ACVR1B_ENST00000542485.1_Intron|ACVR1B_ENST00000415850.2_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R306I|ACVR1B_ENST00000426655.2_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGAAGAGCAAGATTTTTATTC	0.388																																																	0																																										SO:0001627	intron_variant	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.812-1208G>T	12.37:g.52376575G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R306I	ENST00000257963.4	37	c.917	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107791	0.20714	.	.	ENSG00000135503	ENST00000541224	D	0.92397	-3.03	3.48	-4.07	0.03975	.	.	.	.	.	D	0.84660	0.5521	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.71262	-0.4645	8	0.72032	D	0.01	.	5.6106	0.17404	0.5921:0.1558:0.2521:0.0	.	306	P36896-4	.	I	306	ENSP00000442656:R306I	ENSP00000442656:R306I	R	+	2	0	ACVR1B	50662842	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.212000	0.02994	-0.871000	0.04042	0.644000	0.83932	AGA	ACVR1B	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	G	NM_020328		52376575	+1	no_errors	ENST00000541224	ensembl	human	novel	70_37	missense	SNP	0.000	T
ADAM17	6868	genome.wustl.edu	37	2	9667992	9667992	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9667992G>A	ENST00000310823.3	-	5	724	c.542C>T	c.(541-543)cCa>cTa	p.P181L	ADAM17_ENST00000497134.1_Missense_Mutation_p.P181L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	181					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)		ACACACTTTTGGAGACTGCAA	0.348																																																	0													126.0	127.0	126.0					2																	9667992		2203	4298	6501	SO:0001583	missense	6868			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.542C>T	2.37:g.9667992G>A	ENSP00000309968:p.Pro181Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	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.P181L	ENST00000310823.3	37	c.542	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936519	0.73442	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.66460	1.95;-0.21	5.21	5.21	0.72293	.	0.110719	0.64402	D	0.000006	T	0.74854	0.3771	L	0.61218	1.895	0.80722	D	1	D;B;D;B	0.61697	0.99;0.004;0.983;0.004	P;B;P;B	0.53809	0.735;0.025;0.735;0.025	T	0.73777	-0.3876	10	0.36615	T	0.2	.	19.1248	0.93378	0.0:0.0:1.0:0.0	.	181;181;181;181	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	181	ENSP00000309968:P181L;ENSP00000418728:P181L	ENSP00000309968:P181L	P	-	2	0	ADAM17	9585443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.887000	0.92456	2.573000	0.86826	0.467000	0.42956	CCA	ADAM17	-	NULL		0.348	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9667992	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAM17	6868	genome.wustl.edu	37	2	9667999	9667999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9667999G>A	ENST00000310823.3	-	5	717	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.Q179*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	179					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)		TTTGGAGACTGCAAACGTGAA	0.338																																																	0													125.0	125.0	125.0					2																	9667999		2203	4298	6501	SO:0001587	stop_gained	6868			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.535C>T	2.37:g.9667999G>A	ENSP00000309968:p.Gln179*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60226	Nonsense_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.Q179*	ENST00000310823.3	37	c.535	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.132664	0.94517	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	.	.	.	5.48	5.48	0.80851	.	0.385119	0.29438	N	0.012145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5378	0.67973	0.0:0.0:0.8535:0.1464	.	.	.	.	X	179	.	ENSP00000309968:Q179X	Q	-	1	0	ADAM17	9585450	0.976000	0.34144	1.000000	0.80357	0.988000	0.76386	1.999000	0.40806	2.722000	0.93159	0.467000	0.42956	CAG	ADAM17	-	NULL		0.338	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9667999	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ADAM17	6868	genome.wustl.edu	37	2	9668007	9668007	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:9668007G>A	ENST00000310823.3	-	5	709	c.527C>T	c.(526-528)tCa>tTa	p.S176L	ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	176					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)		CTGCAAACGTGAAACATTCTT	0.343																																																	0													118.0	117.0	117.0					2																	9668007		2203	4298	6501	SO:0001583	missense	6868			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.527C>T	2.37:g.9668007G>A	ENSP00000309968:p.Ser176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	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.S176L	ENST00000310823.3	37	c.527	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779033	0.70107	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.65916	1.92;-0.18	5.48	5.48	0.80851	.	0.112555	0.64402	D	0.000011	T	0.75213	0.3819	L	0.59436	1.845	0.54753	D	0.999987	D;B;D;B	0.89917	1.0;0.255;1.0;0.255	D;B;D;B	0.85130	0.997;0.046;0.997;0.046	T	0.67300	-0.5705	10	0.11794	T	0.64	.	19.7057	0.96071	0.0:0.0:1.0:0.0	.	176;176;176;176	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	176	ENSP00000309968:S176L;ENSP00000418728:S176L	ENSP00000309968:S176L	S	-	2	0	ADAM17	9585458	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.551000	0.73909	2.722000	0.93159	0.467000	0.42956	TCA	ADAM17	-	NULL		0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9668007	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCY10P1	221442	genome.wustl.edu	37	6	41085327	41085327	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:41085327G>C	ENST00000567255.1	+	0	1782					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		ACAACTTCAAGAAACTCCCAG	0.403																																																	0																																												221442					6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41085327G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			ADCY10P1	-	-		0.403	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	G	NR_026938		41085327	+1	no_errors	ENST00000567255	ensembl	human	known	70_37	rna	SNP	1.000	C
ADCY2	108	genome.wustl.edu	37	5	7802445	7802445	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:7802445C>A	ENST00000338316.4	+	21	2832	c.2743C>A	c.(2743-2745)Ctc>Atc	p.L915I	ADCY2_ENST00000537121.1_Missense_Mutation_p.L735I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	915					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGCCTTCGGCTCCTGAACGA	0.488																																																	0													92.0	92.0	92.0					5																	7802445		2203	4300	6503	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2743C>A	5.37:g.7802445C>A	ENSP00000342952:p.Leu915Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L915I	ENST00000338316.4	37	c.2743	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	C	33	5.201595	0.94997	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.83591	-1.74;-1.74	5.15	5.15	0.70609	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.149463	0.46145	D	0.000312	D	0.89876	0.6842	L	0.60957	1.885	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.90748	0.4655	10	0.72032	D	0.01	.	18.6214	0.91322	0.0:1.0:0.0:0.0	.	735;915	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	915;68;748;735	ENSP00000342952:L915I;ENSP00000444803:L735I	ENSP00000342952:L915I	L	+	1	0	ADCY2	7855445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.539000	0.82063	2.390000	0.81377	0.591000	0.81541	CTC	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7802445	+1	no_errors	ENST00000338316	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCY4	196883	genome.wustl.edu	37	14	24791337	24791337	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:24791337G>A	ENST00000310677.4	-	21	2634	c.2521C>T	c.(2521-2523)Ctc>Ttc	p.L841F	ADCY4_ENST00000554068.2_Missense_Mutation_p.L841F|ADCY4_ENST00000418030.2_Missense_Mutation_p.L841F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	841					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TTCTCCAAGAGCAGCCGAGTC	0.602																																																	0													134.0	117.0	123.0					14																	24791337		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2521C>T	14.37:g.24791337G>A	ENSP00000312126:p.Leu841Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L841F	ENST00000310677.4	37	c.2521	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548911	0.86127	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.85171	-1.95;-1.95;-1.95	5.16	5.16	0.70880	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.44097	D	0.000493	D	0.93038	0.7784	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93510	0.6852	10	0.87932	D	0	.	9.5433	0.39266	0.0928:0.0:0.9072:0.0	.	841	Q8NFM4	ADCY4_HUMAN	F	841	ENSP00000312126:L841F;ENSP00000452250:L841F;ENSP00000393177:L841F	ENSP00000312126:L841F	L	-	1	0	ADCY4	23861177	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	1.854000	0.39368	2.696000	0.92011	0.655000	0.94253	CTC	ADCY4	-	smart_A/G_cyclase		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24791337	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCYAP1R1	117	genome.wustl.edu	37	7	31146287	31146287	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:31146287C>G	ENST00000304166.4	+	16	1685	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.L445V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.L522V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.L494V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	466					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGACAATCTGGCCACCTG	0.647																																					Ovarian(44;225 1186 2158 11092)												0													114.0	84.0	94.0					7																	31146287		2203	4300	6503	SO:0001583	missense	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1396C>G	7.37:g.31146287C>G	ENSP00000306620:p.Leu466Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.L466V	ENST00000304166.4	37	c.1396	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401278	0.25291	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.51574	1.08;1.09;0.76;0.7	4.74	3.84	0.44239	.	0.073676	0.64402	D	0.000019	T	0.24353	0.0590	N	0.12887	0.27	0.36000	D	0.837359	B;B;B;B;B	0.12013	0.003;0.0;0.005;0.0;0.0	B;B;B;B;B	0.19148	0.003;0.003;0.024;0.001;0.005	T	0.20505	-1.0273	10	0.02654	T	1	.	10.569	0.45190	0.0:0.9005:0.0:0.0995	.	493;494;522;445;466	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	466;445;494;522	ENSP00000306620:L466V;ENSP00000387335:L445V;ENSP00000379514:L494V;ENSP00000386395:L522V	ENSP00000306620:L466V	L	+	1	2	ADCYAP1R1	31112812	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.297000	0.43593	1.285000	0.44548	0.655000	0.94253	CTG	ADCYAP1R1	-	prints_GPCR_2_PACAP_1_rcpt		0.647	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	C	NM_001118		31146287	+1	no_errors	ENST00000304166	ensembl	human	known	70_37	missense	SNP	1.000	G
AFAP1L2	84632	genome.wustl.edu	37	10	116064526	116064526	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:116064526G>A	ENST00000304129.4	-	11	1265	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	AFAP1L2_ENST00000545353.1_Silent_p.L465L|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Silent_p.L412L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	412	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGAAGGAGTAGAGGTGGTCGG	0.687																																																	0													38.0	37.0	37.0					10																	116064526		2202	4300	6502	SO:0001819	synonymous_variant	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1236C>T	10.37:g.116064526G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L465	ENST00000304129.4	37	c.1395	CCDS31286.1	10																																																																																			AFAP1L2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.687	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	G	NM_032550		116064526	-1	no_errors	ENST00000545353	ensembl	human	known	70_37	silent	SNP	0.988	A
AGER	177	genome.wustl.edu	37	6	32148952	32148952	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:32148952C>T	ENST00000375076.4	-	11	1284	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RNF5_ENST00000427134.2_Intron|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375069.3_Missense_Mutation_p.E285K|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375067.3_Silent_p.*343*|AGER_ENST00000375070.3_Missense_Mutation_p.E426K|AGER_ENST00000375065.5_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	395					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGCCTGCCTCAGGTTCCTCC	0.557																																																	0													181.0	192.0	188.0					6																	32148952		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1183G>A	6.37:g.32148952C>T	ENSP00000364217:p.Glu395Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E426K	ENST00000375076.4	37	c.1276	CCDS4746.1	6	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805829	0.31961	.	.	ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059	T;T;T	0.39229	1.09;1.09;1.09	5.18	4.31	0.51392	.	0.000000	0.64402	D	0.000013	T	0.41003	0.1140	.	.	.	0.58432	D	0.999991	P;P;P;P	0.51240	0.943;0.884;0.884;0.884	P;B;B;B	0.52066	0.689;0.275;0.358;0.275	T	0.46665	-0.9175	9	0.87932	D	0	-18.7881	11.9203	0.52787	0.0:0.8243:0.1757:0.0	.	285;381;411;395	A8MS87;Q3L1R5;Q3L1R8;Q15109	.;.;.;RAGE_HUMAN	K	395;426;144;285;124	ENSP00000364217:E395K;ENSP00000364211:E426K;ENSP00000364210:E285K	ENSP00000364199:E124K	E	-	1	0	AGER	32256930	0.320000	0.24616	0.027000	0.17364	0.268000	0.26511	1.782000	0.38654	1.193000	0.43086	-0.359000	0.07587	GAG	AGER	-	NULL		0.557	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32148952	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	0.206	T
AKAP9	10142	genome.wustl.edu	37	7	91726087	91726087	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:91726087G>A	ENST00000359028.2	+	41	10051	c.9826G>A	c.(9826-9828)Gaa>Aaa	p.E3276K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3222K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3272K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3276					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACTGAACGAATCCCAGCA	0.383			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													65.0	68.0	67.0					7																	91726087		2203	4299	6502	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9826G>A	7.37:g.91726087G>A	ENSP00000351922:p.Glu3276Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E3276K	ENST00000359028.2	37	c.9826		7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997833	0.54147	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03468	4.01;4.01;4.02;3.92	5.45	4.57	0.56435	.	0.000000	0.43110	D	0.000612	T	0.05090	0.0136	M	0.65975	2.015	0.32390	N	0.553356	P;B;B;B;B	0.40794	0.729;0.035;0.036;0.061;0.061	B;B;B;B;B	0.27796	0.083;0.016;0.007;0.016;0.016	T	0.13098	-1.0522	10	0.41790	T	0.15	.	14.6265	0.68624	0.0706:0.0:0.9294:0.0	.	547;3276;3276;3272;3264	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	K	3272;3276;3222;3276;1118	ENSP00000348573:E3272K;ENSP00000351922:E3276K;ENSP00000350813:E3222K;ENSP00000378042:E1118K	ENSP00000348573:E3272K	E	+	1	0	AKAP9	91564023	1.000000	0.71417	0.886000	0.34754	0.596000	0.36781	4.003000	0.57061	1.432000	0.47375	0.655000	0.94253	GAA	AKAP9	-	NULL		0.383	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		G	NM_005751		91726087	+1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	0.983	A
ALG13	79868	genome.wustl.edu	37	X	111003067	111003067	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:111003067G>T	ENST00000394780.3	+	27	3266	c.3254G>T	c.(3253-3255)tGc>tTc	p.C1085F	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.C902F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1085					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTTGACTCCTGCCTTCCGGTT	0.483																																																	0													113.0	85.0	94.0					X																	111003067		1568	3582	5150	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3254G>T	X.37:g.111003067G>T	ENSP00000378260:p.Cys1085Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.C902F	ENST00000394780.3	37	c.2705	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	g	3.821	-0.037719	0.07497	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.58940	1.35;0.3	5.8	4.0	0.46444	.	0.182174	0.49916	D	0.000126	T	0.58264	0.2110	L	0.53249	1.67	0.29993	N	0.816737	D;P;P	0.55605	0.972;0.926;0.903	P;P;P	0.52159	0.691;0.454;0.51	T	0.55509	-0.8130	10	0.15066	T	0.55	-0.6704	11.2748	0.49161	0.1572:0.0:0.8428:0.0	.	1007;1085;902	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	F	902;1085;639	ENSP00000251943:C902F;ENSP00000378260:C1085F	ENSP00000251943:C902F	C	+	2	0	ALG13	110889723	0.998000	0.40836	0.808000	0.32385	0.062000	0.15995	1.882000	0.39648	1.197000	0.43143	0.597000	0.82753	TGC	ALG13	-	NULL		0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		111003067	+1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	0.937	T
ALG8	79053	genome.wustl.edu	37	11	77812242	77812242	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:77812242C>G	ENST00000299626.5	-	13	1421		c.e13-1		ALG8_ENST00000532552.2_Splice_Site|ALG8_ENST00000376156.3_Splice_Site	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TTTTTCTTTTCTGAAGGAAAA	0.423																																																	0													30.0	32.0	32.0					11																	77812242		2200	4292	6492	SO:0001630	splice_region_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1350-1G>C	11.37:g.77812242C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDW6|O60860	Splice_Site	SNP	-	e13-1	ENST00000299626.5	37	c.1350-1	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577090	0.65878	.	.	ENSG00000159063	ENST00000530608;ENST00000299626;ENST00000525783;ENST00000526849;ENST00000532306	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.436	0.90646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALG8	77489890	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.212000	0.72188	2.637000	0.89404	0.563000	0.77884	.	ALG8	-	-		0.423	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079	Intron	77812242	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ALKBH7	84266	genome.wustl.edu	37	19	6372893	6372893	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:6372893C>G	ENST00000245812.3	+	1	450	c.62C>G	c.(61-63)tCg>tGg	p.S21W	ALKBH7_ENST00000599849.1_5'Flank|ALKBH7_ENST00000596657.1_5'Flank	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	21					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTGCGAGGCTCGGGCCCTTCC	0.721																																																	0													4.0	5.0	4.0					19																	6372893		1991	3965	5956	SO:0001583	missense	84266			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.62C>G	19.37:g.6372893C>G	ENSP00000245812:p.Ser21Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4U9|Q53FF3	Missense_Mutation	SNP	NULL	p.S21W	ENST00000245812.3	37	c.62	CCDS12163.1	19	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220157	0.58560	.	.	ENSG00000125652	ENST00000245812	T	0.47869	0.83	4.66	3.53	0.40419	.	0.000000	0.64402	D	0.000001	T	0.52158	0.1717	L	0.27053	0.805	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	T	0.52132	-0.8616	10	0.52906	T	0.07	-19.8122	11.368	0.49684	0.1815:0.8185:0.0:0.0	.	21	Q9BT30	ALKB7_HUMAN	W	21	ENSP00000245812:S21W	ENSP00000245812:S21W	S	+	2	0	ALKBH7	6323893	0.266000	0.24112	0.911000	0.35937	0.164000	0.22412	0.929000	0.28844	2.529000	0.85273	0.305000	0.20034	TCG	ALKBH7	-	NULL		0.721	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH7	HGNC	protein_coding	OTTHUMT00000453036.1	C	NM_032306		6372893	+1	no_errors	ENST00000245812	ensembl	human	known	70_37	missense	SNP	0.983	G
ALPK3	57538	genome.wustl.edu	37	15	85400594	85400594	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85400594G>C	ENST00000258888.5	+	6	3398	c.3231G>C	c.(3229-3231)ctG>ctC	p.L1077L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1077					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAACTGGGCTGACAGCTAGCC	0.627																																																	0													67.0	52.0	57.0					15																	85400594		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3231G>C	15.37:g.85400594G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L1077	ENST00000258888.5	37	c.3231	CCDS10333.1	15																																																																																			ALPK3	-	NULL		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85400594	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	0.000	C
AMPD2	271	genome.wustl.edu	37	1	110173305	110173305	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:110173305G>C	ENST00000256578.3	+	17	2680	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	AMPD2_ENST00000528454.1_Splice_Site_p.E656Q|AMPD2_ENST00000393688.3_Splice_Site_p.E655Q|AMPD2_ENST00000528667.1_Splice_Site_p.E774Q|AMPD2_ENST00000358729.4_Splice_Site_p.E699Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Splice_Site_p.E693Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	774					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCGTGCAGGAGCCGCTGAT	0.672																																																	0													32.0	30.0	30.0					1																	110173305		2203	4299	6502	SO:0001630	splice_region_variant	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2320-1G>C	1.37:g.110173305G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.E774Q	ENST00000256578.3	37	c.2320	CCDS805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.017947|5.017947	0.93404|0.93404	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.85258|.	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Adenosine/AMP deaminase (1);|.	0.108387|.	0.64402|.	N|.	0.000008|.	T|T	0.79209|0.79209	0.4407|0.4407	M|M	0.84773|0.84773	2.715|2.715	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P;D|.	0.56968|.	0.978;0.892;0.91;0.976|.	P;P;D;P|.	0.65773|.	0.789;0.762;0.938;0.906|.	T|T	0.80982|0.80982	-0.1139|-0.1139	10|5	0.56958|.	D|.	0.05|.	-19.077|-19.077	17.8573|17.8573	0.88769|0.88769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;655;774;693|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	Q|P	693;774;774;699;656;655|755	ENSP00000345498:E693Q;ENSP00000436541:E774Q;ENSP00000256578:E774Q;ENSP00000351573:E699Q;ENSP00000437164:E656Q;ENSP00000377292:E655Q|.	ENSP00000256578:E774Q|.	E|R	+|+	1|2	0|0	AMPD2|AMPD2	109974828|109974828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.595000|9.595000	0.98260|0.98260	2.562000|2.562000	0.86427|0.86427	0.491000|0.491000	0.48974|0.48974	GAG|CGA	AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.672	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1	G		Missense_Mutation	110173305	+1	no_errors	ENST00000256578	ensembl	human	known	70_37	missense	SNP	1.000	C
ANK1	286	genome.wustl.edu	37	8	41530136	41530136	+	Missense_Mutation	SNP	C	C	T	rs538742550		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:41530136C>T	ENST00000347528.4	-	38	4915	c.4832G>A	c.(4831-4833)cGg>cAg	p.R1611Q	ANK1_ENST00000265709.8_Missense_Mutation_p.R1652Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1611Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R1611Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1611Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1611Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1611Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1611	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCGGGGCCCCGCGGTTCCTC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0																0													103.0	108.0	106.0					8																	41530136		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4832G>A	8.37:g.41530136C>T	ENSP00000339620:p.Arg1611Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R1611Q	ENST00000347528.4	37	c.4832	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	3.249	-0.153755	0.06585	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.24	1.48	0.22813	.	0.831600	0.11033	N	0.606980	T	0.09949	0.0244	N	0.02011	-0.69	0.21802	N	0.999538	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.001;0.001	T	0.32771	-0.9894	10	0.02654	T	1	.	9.3263	0.37995	0.0:0.1345:0.0:0.8655	.	1652;1611;1611;1611	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Q	1611;1611;1611;1611;1611;1611;1652	ENSP00000339620:R1611Q;ENSP00000289734:R1611Q;ENSP00000369082:R1611Q;ENSP00000380149:R1611Q;ENSP00000380147:R1611Q;ENSP00000309131:R1611Q;ENSP00000265709:R1652Q	ENSP00000265709:R1652Q	R	-	2	0	ANK1	41649293	0.228000	0.23718	0.736000	0.30914	0.634000	0.38068	0.148000	0.16224	0.082000	0.17018	0.552000	0.68991	CGG	ANK1	-	NULL		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	C	NM_020475		41530136	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	missense	SNP	0.994	T
ANKHD1	54882	genome.wustl.edu	37	5	139838437	139838437	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:139838437C>T	ENST00000360839.2	+	8	1624	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L490L|ANKHD1_ENST00000394723.3_Silent_p.L490L|ANKHD1_ENST00000394722.3_Silent_p.L479L|ANKHD1_ENST00000297183.6_Silent_p.L490L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	490						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)			TGGCACTACTCTTAGCACAAG	0.378																																																	0													95.0	92.0	93.0					5																	139838437		2203	4300	6503	SO:0001819	synonymous_variant	54882			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.1470C>T	5.37:g.139838437C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L490	ENST00000360839.2	37	c.1470	CCDS4225.1	5																																																																																			ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139838437	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	silent	SNP	0.708	T
ANKRD11	29123	genome.wustl.edu	37	16	89367174	89367174	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:89367174G>A	ENST00000301030.4	-	4	687				ANKRD11_ENST00000567736.1_5'UTR|AC137932.5_ENST00000563087.1_RNA|ANKRD11_ENST00000378330.2_Intron|ANKRD11_ENST00000563291.1_3'UTR|AC137932.5_ENST00000564394.1_RNA	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11						bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATGTGCCTGGCAGCACTGCA	0.498																																																	0																																										SO:0001627	intron_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.226+4439C>T	16.37:g.89367174G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTG1|Q6QMF8	RNA	SNP	-	NULL	ENST00000301030.4	37	NULL	CCDS32513.1	16																																																																																			ANKRD11	-	-		0.498	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	G	NM_013275		89367174	-1	no_errors	ENST00000566858	ensembl	human	known	70_37	rna	SNP	0.000	A
ANKRD55	79722	genome.wustl.edu	37	5	55466561	55466561	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:55466561G>A	ENST00000341048.4	-	5	533	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R128C|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R99C	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	128										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGTGGCAGGCGGCCATTTTTA	0.483																																																	0													104.0	103.0	103.0					5																	55466561		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.382C>T	5.37:g.55466561G>A	ENSP00000342295:p.Arg128Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R128C	ENST00000341048.4	37	c.382	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191954	0.78902	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.54479	2.35;0.57;0.57	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59016	-0.7533	10	0.36615	T	0.2	.	13.4901	0.61390	0.0:0.0:0.8022:0.1978	.	128	B3KVT8	.	C	128;128;128;99;128	ENSP00000342295:R128C;ENSP00000424230:R128C;ENSP00000423507:R99C	ENSP00000342295:R128C	R	-	1	0	ANKRD55	55502318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.475000	0.60210	2.461000	0.83175	0.561000	0.74099	CGC	ANKRD55	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	G	NM_024669		55466561	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	1.000	A
ANXA3	306	genome.wustl.edu	37	4	79500189	79500189	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:79500189G>A	ENST00000264908.6	+	4	491	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ANXA3_ENST00000503570.2_5'UTR|ANXA3_ENST00000512884.1_5'UTR	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	38					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGAACTGATGAGAAAATGCT	0.368																																					GBM(2;126 157 27790 28920 42492)												0													76.0	72.0	73.0					4																	79500189		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.112G>A	4.37:g.79500189G>A	ENSP00000264908:p.Glu38Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9W6|Q6LET2	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.E38K	ENST00000264908.6	37	c.112	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392432	0.62066	.	.	ENSG00000138772	ENST00000264908;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	4.99	4.99	0.66335	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00455	-1.1729	10	0.41790	T	0.15	.	17.2056	0.86917	0.0:0.0:1.0:0.0	.	38	P12429	ANXA3_HUMAN	K	38	ENSP00000264908:E38K;ENSP00000424584:E38K;ENSP00000421512:E38K;ENSP00000422281:E38K	ENSP00000264908:E38K	E	+	1	0	ANXA3	79719213	1.000000	0.71417	0.921000	0.36526	0.363000	0.29612	4.707000	0.61852	2.583000	0.87209	0.591000	0.81541	GAG	ANXA3	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.368	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	HGNC	protein_coding	OTTHUMT00000252516.3	G	NM_005139		79500189	+1	no_errors	ENST00000264908	ensembl	human	known	70_37	missense	SNP	0.998	A
AOC3	8639	genome.wustl.edu	37	17	41004444	41004444	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41004444G>C	ENST00000308423.2	+	1	1244	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	362					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTAGTTTATGAGATAAGCCT	0.527																																					NSCLC(3;192 220 10664 11501 16477)												0													76.0	72.0	74.0					17																	41004444		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1084G>C	17.37:g.41004444G>C	ENSP00000312326:p.Glu362Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E362Q	ENST00000308423.2	37	c.1084	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937001	0.52972	.	.	ENSG00000131471	ENST00000308423	T	0.04603	3.59	4.4	4.4	0.53042	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14448	-1.0472	10	0.62326	D	0.03	.	17.5409	0.87848	0.0:0.0:1.0:0.0	.	362	Q16853	AOC3_HUMAN	Q	362	ENSP00000312326:E362Q	ENSP00000312326:E362Q	E	+	1	0	AOC3	38257970	1.000000	0.71417	0.773000	0.31616	0.130000	0.20726	9.556000	0.98127	2.474000	0.83562	0.591000	0.81541	GAG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.527	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	G	NM_003734		41004444	+1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	1.000	C
AP5Z1	9907	genome.wustl.edu	37	7	4827276	4827276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:4827276G>A	ENST00000348624.4	+	11	1417	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	AP5Z1_ENST00000401897.1_Nonsense_Mutation_p.W441*|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	441					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCTGGCCTGGAACAGCCCAC	0.692																																																	0													32.0	38.0	36.0					7																	4827276		2096	4125	6221	SO:0001587	stop_gained	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1323G>A	7.37:g.4827276G>A	ENSP00000297562:p.Trp441*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3X2|Q96H80	Nonsense_Mutation	SNP	NULL	p.W441*	ENST00000348624.4	37	c.1323	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.674586	0.98425	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000297562:W441X	W	+	3	0	KIAA0415	4793802	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.353000	0.97080	2.515000	0.84797	0.549000	0.68633	TGG	AP5Z1	-	NULL		0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	G			4827276	+1	no_errors	ENST00000348624	ensembl	human	known	70_37	nonsense	SNP	1.000	A
APIP	51074	genome.wustl.edu	37	11	34912207	34912207	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:34912207C>T	ENST00000395787.3	-	3	373				APIP_ENST00000278359.5_Intron|APIP_ENST00000527830.1_Intron	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GCAATACAGCCAGTTGCTTGA	0.338																																																	0																																										SO:0001627	intron_variant	51074			AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.159-108G>A	11.37:g.34912207C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000395787.3	37	NULL	CCDS7895.1	11																																																																																			APIP	-	-		0.338	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APIP	HGNC	protein_coding	OTTHUMT00000389864.1	C	NM_015957		34912207	-1	no_errors	ENST00000532428	ensembl	human	known	70_37	rna	SNP	0.000	T
APMAP	57136	genome.wustl.edu	37	20	24959457	24959457	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:24959457C>T	ENST00000217456.2	-	3	564	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	APMAP_ENST00000447138.1_Missense_Mutation_p.E92K	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	92					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										AACAGCCTTTCTGCCTGTCGC	0.478																																																	0													79.0	80.0	80.0					20																	24959457		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.274G>A	20.37:g.24959457C>T	ENSP00000217456:p.Glu92Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.E92K	ENST00000217456.2	37	c.274	CCDS13166.1	20	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588371	0.46110	.	.	ENSG00000101474	ENST00000217456;ENST00000447138	T;T	0.32023	1.47;1.47	5.08	2.05	0.26809	Six-bladed beta-propeller, TolB-like (1);	0.199280	0.52532	N	0.000062	T	0.22322	0.0538	L	0.41415	1.275	0.49130	D	0.999756	B;B;B	0.19935	0.04;0.002;0.013	B;B;B	0.21546	0.035;0.003;0.016	T	0.05194	-1.0900	10	0.36615	T	0.2	-15.148	7.6319	0.28245	0.0:0.68:0.0:0.32	.	92;76;92	Q9HDC9-2;A2A2F9;Q9HDC9	.;.;APMAP_HUMAN	K	92	ENSP00000217456:E92K;ENSP00000415373:E92K	ENSP00000217456:E92K	E	-	1	0	C20orf3	24907457	0.938000	0.31826	0.982000	0.44146	0.910000	0.53928	1.607000	0.36836	0.732000	0.32470	0.561000	0.74099	GAA	APMAP	-	NULL		0.478	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	HGNC	protein_coding	OTTHUMT00000078380.2	C	NM_020531		24959457	-1	no_errors	ENST00000217456	ensembl	human	known	70_37	missense	SNP	0.850	T
APOBEC3F	200316	genome.wustl.edu	37	22	39445549	39445549	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39445549C>T	ENST00000308521.5	+	5	1043	c.686C>T	c.(685-687)tCa>tTa	p.S229L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	229					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AAGCACCACTCACCTGTCTCC	0.473																																																	0													141.0	126.0	131.0					22																	39445549		2203	4300	6503	SO:0001583	missense	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.686C>T	22.37:g.39445549C>T	ENSP00000309749:p.Ser229Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.S229L	ENST00000308521.5	37	c.686	CCDS33648.1	22	.	.	.	.	.	.	.	.	.	.	.	9.036	0.988523	0.18966	.	.	ENSG00000128394	ENST00000308521	T	0.68331	-0.32	1.53	0.473	0.16763	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.55305	0.1912	L	0.50993	1.605	0.09310	N	1	B	0.22080	0.064	B	0.23275	0.045	T	0.52442	-0.8575	9	0.87932	D	0	.	3.5473	0.07834	0.0:0.7404:0.0:0.2596	.	229	Q8IUX4	ABC3F_HUMAN	L	229	ENSP00000309749:S229L	ENSP00000309749:S229L	S	+	2	0	APOBEC3F	37775495	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	-0.525000	0.06214	0.209000	0.20645	0.505000	0.49811	TCA	APOBEC3F	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.473	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	C	NM_145298		39445549	+1	no_errors	ENST00000308521	ensembl	human	known	70_37	missense	SNP	0.011	T
APOBEC3F	200316	genome.wustl.edu	37	22	39445552	39445552	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39445552C>T	ENST00000308521.5	+	5	1046	c.689C>T	c.(688-690)cCt>cTt	p.P230L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	230					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CACCACTCACCTGTCTCCTGG	0.473																																																	0													138.0	123.0	128.0					22																	39445552		2203	4300	6503	SO:0001583	missense	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.689C>T	22.37:g.39445552C>T	ENSP00000309749:p.Pro230Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.P230L	ENST00000308521.5	37	c.689	CCDS33648.1	22	.	.	.	.	.	.	.	.	.	.	.	6.410	0.443727	0.12164	.	.	ENSG00000128394	ENST00000308521	T	0.67171	-0.25	1.53	-1.26	0.09376	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.45418	0.1341	N	0.17248	0.465	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.27606	-1.0069	9	0.35671	T	0.21	.	6.9502	0.24540	0.0:0.4626:0.5374:0.0	.	230	Q8IUX4	ABC3F_HUMAN	L	230	ENSP00000309749:P230L	ENSP00000309749:P230L	P	+	2	0	APOBEC3F	37775498	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-2.735000	0.00802	-0.221000	0.09973	0.505000	0.49811	CCT	APOBEC3F	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.473	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	C	NM_145298		39445552	+1	no_errors	ENST00000308521	ensembl	human	known	70_37	missense	SNP	0.005	T
ARID1A	8289	genome.wustl.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-	rs370696498|rs374564889		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.Q951del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q1334del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1334	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Substitution - Nonsense(1)|Deletion - In frame(1)	large_intestine(1)|endometrium(1)																																								SO:0001651	inframe_deletion	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3978_3980delGCA	1.37:g.27100191_27100193delGCA	ENSP00000320485:p.Gln1334del	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	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.Q1330in_frame_del	ENST00000324856.7	37	c.3978_3980	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.591	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	GCA	NM_139135		27100184	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	in_frame_del	DEL	0.986:0.981:0.931	-
ARL14EP	120534	genome.wustl.edu	37	11	30352826	30352826	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:30352826C>T	ENST00000282032.3	+	2	546	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	111						cytoplasm (GO:0005737)											ACAGCTTGTACCTGGTTGGAA	0.383																																																	0													111.0	112.0	111.0					11																	30352826		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.331C>T	11.37:g.30352826C>T	ENSP00000282032:p.Pro111Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYH9	Missense_Mutation	SNP	NULL	p.P111S	ENST00000282032.3	37	c.331	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468202	0.63625	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.76448	-1.02	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000003	D	0.85097	0.5619	L	0.46157	1.445	0.43559	D	0.995878	D	0.60575	0.988	D	0.75484	0.986	D	0.85961	0.1470	10	0.72032	D	0.01	-20.8449	17.7332	0.88384	0.0:1.0:0.0:0.0	.	111	Q8N8R7	CK046_HUMAN	S	111	ENSP00000282032:P111S	ENSP00000282032:P111S	P	+	1	0	C11orf46	30309402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.157000	0.64911	2.630000	0.89119	0.655000	0.94253	CCT	ARL14EP	-	NULL		0.383	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	C	NM_152316		30352826	+1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	T
ARL14EPL	644100	genome.wustl.edu	37	5	115387169	115387169	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:115387169G>A	ENST00000601302.2	+	1	7	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CTD-2287O16.3_ENST00000600981.3_Intron	NM_001195581.1	NP_001182510.1	P0DKL9	A14EL_HUMAN	ADP-ribosylation factor-like 14 effector protein-like	3																	AGAGATGAATGAACAATCAGA	0.338																																																	0																																										SO:0001583	missense	644100				CCDS59490.1	5q23.1	2012-07-09				ENSG00000268223			44201	protein-coding gene	gene with protein product							Standard	NM_001195581		Approved		uc021yct.1	P0DKL9		ENST00000601302.2:c.7G>A	5.37:g.115387169G>A	ENSP00000472409:p.Glu3Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E3K	ENST00000601302.2	37	c.7	CCDS59490.1	5																																																																																			ARL14EPL	-	NULL		0.338	ARL14EPL-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARL14EPL	HGNC	protein_coding	OTTHUMT00000463306.2	G	NM_001195581		115387169	+1	no_errors	ENST00000601302	ensembl	human	novel	70_37	missense	SNP	1.000	A
ARMCX4	100131755	genome.wustl.edu	37	X	100743621	100743621	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:100743621G>A	ENST00000423738.3	+	2	247	c.45G>A	c.(43-45)gtG>gtA	p.V15V		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	119						integral component of membrane (GO:0016021)				lung(1)	1						CAGGACTGGTGATCTGGGCTG	0.527																																																	0																																										SO:0001819	synonymous_variant	100131755			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.45G>A	X.37:g.100743621G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	NULL	p.V119	ENST00000423738.3	37	c.357	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.527	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100743621	+1	no_errors	ENST00000433011	ensembl	human	known	70_37	silent	SNP	1.000	A
ARNTL	406	genome.wustl.edu	37	11	13391231	13391231	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:13391231C>G	ENST00000403290.1	+	12	1092	c.737C>G	c.(736-738)tCt>tGt	p.S246C	ARNTL_ENST00000361003.4_Missense_Mutation_p.S246C|ARNTL_ENST00000497429.1_Intron|ARNTL_ENST00000403482.3_Missense_Mutation_p.S244C|ARNTL_ENST00000389708.3_Missense_Mutation_p.S246C|ARNTL_ENST00000389707.4_Missense_Mutation_p.S246C|ARNTL_ENST00000403510.3_Missense_Mutation_p.S203C|ARNTL_ENST00000396441.3_Missense_Mutation_p.S246C|ARNTL_ENST00000401424.1_Missense_Mutation_p.S203C			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	246					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCACGACGTTCTTTCTTCTGT	0.413																																																	0													170.0	161.0	164.0					11																	13391231		2200	4294	6494	SO:0001583	missense	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.737C>G	11.37:g.13391231C>G	ENSP00000384517:p.Ser246Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.S246C	ENST00000403290.1	37	c.737		11	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873904	0.91664	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.53	5.53	0.82687	PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.998;0.998;0.988;0.998;0.999	T	0.53606	-0.8415	10	0.87932	D	0	.	19.0887	0.93217	0.0:1.0:0.0:0.0	.	246;244;203;246;246;203	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	C	246;246;203;246;246;246;203;202;244	ENSP00000379718:S246C;ENSP00000374357:S246C;ENSP00000385915:S203C;ENSP00000384517:S246C;ENSP00000354278:S246C;ENSP00000374358:S246C;ENSP00000385581:S203C;ENSP00000385897:S244C	ENSP00000340289:S202C	S	+	2	0	ARNTL	13347807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.605000	0.88082	0.655000	0.94253	TCT	ARNTL	-	pfam_PAS_fold,prints_Nuc_translocat		0.413	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	C	NM_001178		13391231	+1	no_errors	ENST00000403290	ensembl	human	known	70_37	missense	SNP	1.000	G
ARRDC3	57561	genome.wustl.edu	37	5	90669612	90669612	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:90669612C>G	ENST00000265138.3	-	7	1343	c.1077G>C	c.(1075-1077)cgG>cgC	p.R359R	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	359					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CAAGATTGTTCCGCCTTTGTT	0.458																																																	0													199.0	168.0	179.0					5																	90669612		2203	4300	6503	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1077G>C	5.37:g.90669612C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T8|Q9P2H1	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R359	ENST00000265138.3	37	c.1077	CCDS34202.1	5																																																																																			ARRDC3	-	NULL		0.458	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	C	NM_020801		90669612	-1	no_errors	ENST00000265138	ensembl	human	known	70_37	silent	SNP	1.000	G
ARSH	347527	genome.wustl.edu	37	X	2951222	2951222	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:2951222G>A	ENST00000381130.2	+	9	1485	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	495					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)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L495L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCTTCCACTGAACCCTGACA	0.493																																																	1	Substitution - coding silent(1)	endometrium(1)											99.0	72.0	81.0					X																	2951222		2203	4300	6503	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1485G>A	X.37:g.2951222G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L495	ENST00000381130.2	37	c.1485	CCDS35198.1	X																																																																																			ARSH	-	superfamily_Alkaline_phosphatase_core		0.493	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSH	HGNC	protein_coding	OTTHUMT00000356489.1	G	NM_001011719		2951222	+1	no_errors	ENST00000381130	ensembl	human	known	70_37	silent	SNP	0.013	A
ASAP3	55616	genome.wustl.edu	37	1	23759693	23759693	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23759693C>G	ENST00000336689.3	-	22	2244	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	ASAP3_ENST00000495646.1_Missense_Mutation_p.E238Q|ASAP3_ENST00000437606.2_Missense_Mutation_p.E725Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	734					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						GCGACAGTCTCATAGGTCTTG	0.607																																																	0													78.0	84.0	82.0					1																	23759693		2203	4300	6503	SO:0001583	missense	55616			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.2200G>C	1.37:g.23759693C>G	ENSP00000338769:p.Glu734Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E734Q	ENST00000336689.3	37	c.2200	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940718	0.73557	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.55588	1.86;0.51;0.52	4.69	4.69	0.59074	.	3.125900	0.00974	N	0.003298	T	0.67221	0.2870	L	0.27053	0.805	0.45087	D	0.998109	D;D;D;D	0.89917	1.0;0.989;0.999;1.0	D;P;D;D	0.87578	0.998;0.885;0.915;0.996	T	0.55049	-0.8201	10	0.33940	T	0.23	.	16.7197	0.85407	0.0:1.0:0.0:0.0	.	725;624;257;734	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	Q	257;238;734;61;725	ENSP00000436150:E238Q;ENSP00000338769:E734Q;ENSP00000408826:E725Q	ENSP00000338769:E734Q	E	-	1	0	ASAP3	23632280	1.000000	0.71417	0.988000	0.46212	0.277000	0.26821	5.512000	0.67030	2.605000	0.88082	0.561000	0.74099	GAG	ASAP3	-	NULL		0.607	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	C	NM_017707		23759693	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	missense	SNP	1.000	G
ASAP3	55616	genome.wustl.edu	37	1	23760772	23760772	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23760772C>T	ENST00000336689.3	-	19	1970	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L	ASAP3_ENST00000495646.1_Silent_p.L146L|ASAP3_ENST00000437606.2_Silent_p.L633L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	642					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						CTCTCCCCTTCAGCAGCAGCT	0.592																																																	0													123.0	110.0	114.0					1																	23760772		2203	4300	6503	SO:0001819	synonymous_variant	55616			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.1926G>A	1.37:g.23760772C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	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.L642	ENST00000336689.3	37	c.1926	CCDS235.1	1																																																																																			ASAP3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.592	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	C	NM_017707		23760772	-1	no_errors	ENST00000336689	ensembl	human	known	70_37	silent	SNP	1.000	T
ASL	435	genome.wustl.edu	37	7	65547435	65547435	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:65547435G>A	ENST00000304874.9	+	4	390	c.288G>A	c.(286-288)ctG>ctA	p.L96L	ASL_ENST00000380839.4_Silent_p.L96L|ASL_ENST00000395332.3_Silent_p.L96L|ASL_ENST00000395331.3_Silent_p.L96L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	96					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	AGCGCCGCCTGAAGGTACGAC	0.572																																																	0													55.0	54.0	54.0					7																	65547435		2203	4299	6502	SO:0001819	synonymous_variant	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.288G>A	7.37:g.65547435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.L96	ENST00000304874.9	37	c.288	CCDS5531.1	7																																																																																			ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.572	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	G	NM_000048		65547435	+1	no_errors	ENST00000304874	ensembl	human	known	70_37	silent	SNP	0.997	A
ASPH	444	genome.wustl.edu	37	8	62430629	62430629	+	Missense_Mutation	SNP	C	C	T	rs140478604		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:62430629C>T	ENST00000379454.4	-	23	2141	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ASPH_ENST00000541428.1_Missense_Mutation_p.E623K	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	652					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|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 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGGAACTTTTCTAGTAAGGTA	0.403																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	202.0	200.0	200.0		1867,1954	5.7	1.0	8	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASPH	NM_001164750.1,NM_004318.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	623/730,652/759	62430629	1,13005	2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1954G>A	8.37:g.62430629C>T	ENSP00000368767:p.Glu652Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E652K	ENST00000379454.4	37	c.1954	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880103	0.72294	0.0	1.16E-4	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.43688	0.94;0.94	5.72	5.72	0.89469	.	0.233360	0.42964	D	0.000622	T	0.42562	0.1208	L	0.53729	1.69	0.80722	D	1	B;P	0.45672	0.026;0.864	B;B	0.37833	0.009;0.259	T	0.47774	-0.9091	10	0.66056	D	0.02	-17.2076	19.8804	0.96895	0.0:1.0:0.0:0.0	.	623;652	F5H667;Q12797	.;ASPH_HUMAN	K	623;652	ENSP00000437864:E623K;ENSP00000368767:E652K	ENSP00000368767:E652K	E	-	1	0	ASPH	62593183	1.000000	0.71417	0.986000	0.45419	0.600000	0.36913	7.328000	0.79160	2.684000	0.91462	0.563000	0.77884	GAA	ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62430629	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	T
ASPHD1	253982	genome.wustl.edu	37	16	29913117	29913117	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:29913117G>T	ENST00000308748.5	+	1	1077	c.825G>T	c.(823-825)ctG>ctT	p.L275L	SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	275					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ATCGGGCACTGAGGGGGCTTC	0.687																																																	0													19.0	19.0	19.0					16																	29913117		2160	4233	6393	SO:0001819	synonymous_variant	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.825G>T	16.37:g.29913117G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.L275	ENST00000308748.5	37	c.825	CCDS10660.1	16																																																																																			ASPHD1	-	pfam_Asp_Arg_b-Hydrxlase		0.687	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	G	NM_181718		29913117	+1	no_errors	ENST00000308748	ensembl	human	known	70_37	silent	SNP	0.808	T
ATF4P4	100127952	genome.wustl.edu	37	11	113661713	113661713	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:113661713G>C	ENST00000393544.2	+	0	1761									activating transcription factor 4 pseudogene 4																		TATGAGCCCAGAGTCCTATCT	0.542																																																	0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661713G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-		0.542	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	G	NG_021835		113661713	+1	no_errors	ENST00000393544	ensembl	human	known	70_37	rna	SNP	1.000	C
ATF6B	1388	genome.wustl.edu	37	6	32095492	32095492	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:32095492C>T	ENST00000375203.3	-	2	159	c.127G>A	c.(127-129)Gag>Aag	p.E43K	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.E40K	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	43	Transcription activation.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTCTGCTCCTCGGCCACTTCA	0.592																																																	0													82.0	84.0	83.0					6																	32095492		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.127G>A	6.37:g.32095492C>T	ENSP00000364349:p.Glu43Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.E43K	ENST00000375203.3	37	c.127	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063862	0.76187	.	.	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.57752	0.38;1.14	4.87	4.87	0.63330	.	0.099684	0.40144	U	0.001164	T	0.41305	0.1153	L	0.60455	1.87	0.33689	D	0.613033	D;P;P	0.59767	0.986;0.921;0.725	P;B;B	0.47705	0.555;0.162;0.054	T	0.36890	-0.9729	10	0.26408	T	0.33	-8.777	13.3808	0.60766	0.0:1.0:0.0:0.0	.	43;40;43	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	K	43;43;40	ENSP00000364349:E43K;ENSP00000364347:E40K	ENSP00000364338:E43K	E	-	1	0	ATF6B	32203470	0.995000	0.38212	0.997000	0.53966	0.959000	0.62525	3.473000	0.53122	2.518000	0.84900	0.655000	0.94253	GAG	ATF6B	-	NULL		0.592	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	C			32095492	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	missense	SNP	0.998	T
ATP2B2	491	genome.wustl.edu	37	3	10377945	10377945	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:10377945G>A	ENST00000352432.4	-	21	3490				ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000360273.2_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000343816.4_Intron			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGGCCCCCTGAAAGGAGGCC	0.547																																					Ovarian(125;1619 1709 15675 19819 38835)												0																																										SO:0001627	intron_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3420+1914C>T	3.37:g.10377945G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00766|Q12994|Q16818	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.Q1109*	ENST00000352432.4	37	c.3325	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	47	13.581575	0.99751	.	.	ENSG00000157087	ENST00000342354	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	17.9956	0.89182	0.0:0.0:1.0:0.0	.	.	.	.	X	1154	.	ENSP00000342954:Q1154X	Q	-	1	0	ATP2B2	10352945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.234000	0.73211	0.561000	0.74099	CAG	ATP2B2	-	pfam_ATP_Ca_trans_C		0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10377945	-1	no_errors	ENST00000460129	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP8B2	57198	genome.wustl.edu	37	1	154317602	154317602	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154317602C>T	ENST00000368489.3	+	22	2541	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	833					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)			CCATTGGAGACGGAGCCAATG	0.572											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													148.0	146.0	147.0					1																	154317602		2203	4300	6503	SO:0001819	synonymous_variant	57198			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.2541C>T	1.37:g.154317602C>T		Somatic	1762	WXS	Illumina HiSeq	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D847	ENST00000368489.3	37	c.2541	CCDS1066.1	1																																																																																			ATP8B2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	C	NM_020452		154317602	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	silent	SNP	0.997	T
ATXN3L	92552	genome.wustl.edu	37	X	13337387	13337387	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:13337387C>G	ENST00000380622.2	-	1	1131	c.667G>C	c.(667-669)Gac>Cac	p.D223H	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	223					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCATCTTGGTCTGATGTTCCA	0.373																																																	0													250.0	230.0	236.0					X																	13337387		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.667G>C	X.37:g.13337387C>G	ENSP00000369996:p.Asp223His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.D223H	ENST00000380622.2	37	c.667	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	c	11.84	1.759279	0.31137	.	.	ENSG00000123594	ENST00000380622	T	0.22134	1.97	0.652	0.652	0.17823	Ubiquitin interacting motif (1);	0.101654	0.64402	D	0.000004	T	0.21550	0.0519	L	0.47190	1.495	0.43330	D	0.995364	P	0.45634	0.863	P	0.48089	0.566	T	0.02275	-1.1184	10	0.56958	D	0.05	.	6.9243	0.24405	0.0:0.9999:0.0:1.0E-4	.	223	Q9H3M9	ATX3L_HUMAN	H	223	ENSP00000369996:D223H	ENSP00000369996:D223H	D	-	1	0	ATXN3L	13247308	1.000000	0.71417	0.005000	0.12908	0.004000	0.04260	4.187000	0.58344	0.575000	0.29434	0.417000	0.27973	GAC	ATXN3L	-	pfam_Ubiquitin-int_motif,prints_Josephin		0.373	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337387	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.971	G
ATXN7L1	222255	genome.wustl.edu	37	7	105254171	105254171	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:105254171G>A	ENST00000419735.3	-	10	2518				ATXN7L1_ENST00000477775.1_Intron|ATXN7L1_ENST00000388807.4_Silent_p.H530H	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						AAAGCAGAGGGTGAAAACTGC	0.537																																																	0																																										SO:0001627	intron_variant	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2472+137C>T	7.37:g.105254171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	NULL	p.H530	ENST00000419735.3	37	c.1590	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL		0.537	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	G			105254171	-1	no_errors	ENST00000388807	ensembl	human	known	70_37	silent	SNP	0.005	A
AVPR2	554	genome.wustl.edu	37	X	153171491	153171491	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153171491C>G	ENST00000358927.2	+	3	740	c.531C>G	c.(529-531)atC>atG	p.I177M	AVPR2_ENST00000337474.5_Missense_Mutation_p.I177M|AVPR2_ENST00000370049.1_Missense_Mutation_p.I177M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	177					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGCTCTTCATCTTCGCCCAGC	0.657																																																	0													47.0	38.0	41.0					X																	153171491		2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.531C>G	X.37:g.153171491C>G	ENSP00000351805:p.Ile177Met	Somatic		WXS	Illumina HiSeq	Phase_IV	C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.I177M	ENST00000358927.2	37	c.531	CCDS14735.1	X	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233810	0.05983	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	H	0.96239	3.79	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86928	0.2071	10	0.87932	D	0	-26.5873	5.9693	0.19342	0.0:0.7528:0.0:0.2472	.	177;177	P30518-2;P30518	.;V2R_HUMAN	M	177	ENSP00000351805:I177M;ENSP00000393513:I177M;ENSP00000338072:I177M;ENSP00000359066:I177M	ENSP00000338072:I177M	I	+	3	3	AVPR2	152824685	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	0.893000	0.28336	1.802000	0.52723	0.263000	0.19301	ATC	AVPR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.657	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	C			153171491	+1	no_errors	ENST00000337474	ensembl	human	known	70_37	missense	SNP	1.000	G
C16orf70	80262	genome.wustl.edu	37	16	67183392	67183392	+	IGR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:67183392G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.H333Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AAGGCAGGGTGAGGCTCGGGC	0.657																																																	0													21.0	31.0	28.0					16																	67183392		2123	4250	6373	SO:0001628	intergenic_variant	84752			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183392G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HA86	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.H333Y	ENST00000219139.3	37	c.997	CCDS10828.1	16	.	.	.	.	.	.	.	.	.	.	g	29.1	4.977154	0.92982	.	.	ENSG00000237172	ENST00000449549	T	0.34472	1.36	5.02	5.02	0.67125	.	.	.	.	.	T	0.71484	0.3345	H	0.95294	3.65	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.80165	-0.1496	9	0.51188	T	0.08	-14.0517	16.9174	0.86155	0.0:0.0:1.0:0.0	.	333	Q6UX72	B3GN9_HUMAN	Y	333	ENSP00000400157:H333Y	ENSP00000400157:H333Y	H	-	1	0	B3GNT9	65740893	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.861000	0.99562	2.325000	0.78763	0.556000	0.70494	CAC	B3GNT9	-	NULL		0.657	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT9	HGNC	protein_coding	OTTHUMT00000268829.2	G	NM_025187		67183392	-1	no_errors	ENST00000449549	ensembl	human	known	70_37	missense	SNP	1.000	A
B4GALNT2	124872	genome.wustl.edu	37	17	47236506	47236506	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:47236506G>C	ENST00000300404.2	+	6	845	c.786G>C	c.(784-786)cgG>cgC	p.R262R	B4GALNT2_ENST00000393354.2_Silent_p.R202R|B4GALNT2_ENST00000504681.1_Silent_p.R176R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	262					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGTGACCGGAAGCTGTTGA	0.532																																					GBM(124;244 1635 8663 18097 33175)												0													235.0	205.0	215.0					17																	47236506		2203	4300	6503	SO:0001819	synonymous_variant	124872			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.786G>C	17.37:g.47236506G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZE4|Q14CP1|Q86Y40	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R262	ENST00000300404.2	37	c.786	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase		0.532	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	G	NM_153446		47236506	+1	no_errors	ENST00000300404	ensembl	human	known	70_37	silent	SNP	0.228	C
BAG2	9532	genome.wustl.edu	37	6	57048707	57048707	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:57048707G>C	ENST00000370693.5	+	3	727	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	BAG2_ENST00000545080.1_Missense_Mutation_p.E86Q	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	119	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTATTGATGAGGTGGTCAA	0.448																																																	0													162.0	157.0	159.0					6																	57048707		2203	4300	6503	SO:0001583	missense	9532			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.355G>C	6.37:g.57048707G>C	ENSP00000359727:p.Glu119Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.E119Q	ENST00000370693.5	37	c.355	CCDS4961.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100471	0.76983	.	.	ENSG00000112208	ENST00000370693;ENST00000438730;ENST00000545080	D;D	0.89681	-2.55;-2.55	6.06	6.06	0.98353	BAG domain (3);	0.126706	0.64402	D	0.000001	D	0.90442	0.7007	M	0.69823	2.125	0.80722	D	1	P;P	0.47484	0.782;0.896	P;P	0.49887	0.583;0.625	D	0.89039	0.3447	10	0.44086	T	0.13	-20.6368	20.6243	0.99512	0.0:0.0:1.0:0.0	.	86;119	B4DXE2;O95816	.;BAG2_HUMAN	Q	119;68;86	ENSP00000359727:E119Q;ENSP00000441795:E86Q	ENSP00000359727:E119Q	E	+	1	0	BAG2	57156666	1.000000	0.71417	0.995000	0.50966	0.622000	0.37654	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GAG	BAG2	-	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.448	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG2	HGNC	protein_coding	OTTHUMT00000041044.2	G			57048707	+1	no_errors	ENST00000370693	ensembl	human	known	70_37	missense	SNP	1.000	C
BAI2	576	genome.wustl.edu	37	1	32196711	32196711	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:32196711C>T	ENST00000373658.3	-	29	4411	c.4070G>A	c.(4069-4071)cGg>cAg	p.R1357Q	BAI2_ENST00000398538.1_Missense_Mutation_p.R1345Q|BAI2_ENST00000527361.1_Missense_Mutation_p.R1324Q|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.R966Q|BAI2_ENST00000398556.3_Missense_Mutation_p.R1272Q|BAI2_ENST00000373655.2_Missense_Mutation_p.R1357Q|BAI2_ENST00000398547.1_Missense_Mutation_p.R1290Q|BAI2_ENST00000257070.4_Missense_Mutation_p.R1324Q|BAI2_ENST00000398542.1_Missense_Mutation_p.R1257Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1357					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTCAAAGTCCGCCGGGGCAG	0.701																																																	0													11.0	11.0	11.0					1																	32196711		2179	4255	6434	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4070G>A	1.37:g.32196711C>T	ENSP00000362762:p.Arg1357Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R1357Q	ENST00000373658.3	37	c.4070	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962032	0.74016	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.48201	1.5;1.75;0.92;0.92;1.88;0.82;0.82;1.53;0.95	5.34	5.34	0.76211	.	0.000000	0.39020	N	0.001498	T	0.40719	0.1128	L	0.51422	1.61	0.49582	D	0.999802	P;P;B;P;P;P;P	0.38420	0.608;0.63;0.328;0.496;0.608;0.496;0.496	B;B;B;B;B;B;B	0.30401	0.115;0.074;0.018;0.034;0.115;0.034;0.034	T	0.28332	-1.0047	10	0.17369	T	0.5	.	19.0256	0.92931	0.0:1.0:0.0:0.0	.	1324;1345;966;1272;1357;1357;1345	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	Q	1272;1290;1357;1357;1257;1324;1324;966;1345	ENSP00000381564:R1272Q;ENSP00000381555:R1290Q;ENSP00000362762:R1357Q;ENSP00000362759:R1357Q;ENSP00000381550:R1257Q;ENSP00000257070:R1324Q;ENSP00000435397:R1324Q;ENSP00000391071:R966Q;ENSP00000381548:R1345Q	ENSP00000257070:R1324Q	R	-	2	0	BAI2	31969298	0.914000	0.31030	1.000000	0.80357	0.993000	0.82548	2.468000	0.45102	2.666000	0.90696	0.561000	0.74099	CGG	BAI2	-	NULL		0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32196711	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T
BAIAP3	8938	genome.wustl.edu	37	16	1392015	1392015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:1392015G>T	ENST00000324385.5	+	10	1068	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.E286*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.E286*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.E241*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.E269*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.E246*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.E269*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	304	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATCCCTGGTAGAAGCGTGCAG	0.622																																																	0													82.0	65.0	71.0					16																	1392015		2198	4300	6498	SO:0001587	stop_gained	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.910G>T	16.37:g.1392015G>T	ENSP00000324510:p.Glu304*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E304*	ENST00000324385.5	37	c.910	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490122	0.84962	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-19.2255	16.3383	0.83074	0.0:0.0:1.0:0.0	.	.	.	.	X	269;286;304;286;269	.	ENSP00000324510:E304X	E	+	1	0	BAIAP3	1332016	1.000000	0.71417	0.974000	0.42286	0.070000	0.16714	5.895000	0.69814	2.462000	0.83206	0.478000	0.44815	GAA	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.622	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1392015	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BBS5	129880	genome.wustl.edu	37	2	170349383	170349383	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:170349383G>A	ENST00000295240.3	+	6	762		c.e6-1		RP11-724O16.1_ENST00000513963.1_Splice_Site|BBS5_ENST00000554017.1_Splice_Site|BBS5_ENST00000392663.2_Splice_Site	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5						cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTTTTTCATAGAGCTTATGAA	0.284									Bardet-Biedl syndrome																																								0													52.0	50.0	51.0					2																	170349383		2201	4295	6496	SO:0001630	splice_region_variant	129880	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.387-1G>A	2.37:g.170349383G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPC3|Q6PKN0	Splice_Site	SNP	-	e6-1	ENST00000295240.3	37	c.387-1	CCDS2233.1	2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119225	0.37436	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.612	0.95610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS5;RP11-724O16.1	170057629	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	9.835000	0.99442	2.651000	0.90000	0.585000	0.79938	.	BBS5	-	-		0.284	BBS5-001	KNOWN	basic|CCDS	protein_coding	BBS5	HGNC	protein_coding	OTTHUMT00000255265.2	G	NM_152384	Intron	170349383	+1	no_errors	ENST00000554017	ensembl	human	known	70_37	splice_site	SNP	1.000	A
BCL9L	283149	genome.wustl.edu	37	11	118772086	118772086	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:118772086G>A	ENST00000334801.3	-	6	3330	c.2366C>T	c.(2365-2367)aCc>aTc	p.T789I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	789	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGCGGGGTCATCTGCAC	0.607																																																	0													157.0	93.0	115.0					11																	118772086		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2366C>T	11.37:g.118772086G>A	ENSP00000335320:p.Thr789Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.T789I	ENST00000334801.3	37	c.2366	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78364	-1.17	5.67	4.7	0.59300	.	0.000000	0.52532	D	0.000070	T	0.76919	0.4055	L	0.36672	1.1	0.34431	D	0.698491	D;D	0.57899	0.981;0.968	P;P	0.57101	0.813;0.655	T	0.74057	-0.3787	10	0.07990	T	0.79	-21.5683	15.7529	0.78001	0.0:0.1366:0.8634:0.0	.	784;789	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	I	789;752;82;789;789	ENSP00000335320:T789I	ENSP00000335320:T789I	T	-	2	0	BCL9L	118277296	1.000000	0.71417	0.995000	0.50966	0.676000	0.39594	3.332000	0.52083	2.659000	0.90383	0.655000	0.94253	ACC	BCL9L	-	NULL		0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	G	NM_182557		118772086	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	0.996	A
BEND7	222389	genome.wustl.edu	37	10	13538811	13538811	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:13538811G>C	ENST00000396900.2	-	4	525	c.526C>G	c.(526-528)Cta>Gta	p.L176V	BEND7_ENST00000341083.3_Missense_Mutation_p.L124V|BEND7_ENST00000378605.3_Missense_Mutation_p.L137V|BEND7_ENST00000396898.2_Missense_Mutation_p.L189V			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	176						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGTTCTTGTAGAATGGCCTGC	0.413																																																	0													150.0	148.0	149.0					10																	13538811		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.526C>G	10.37:g.13538811G>C	ENSP00000380108:p.Leu176Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.L176V	ENST00000396900.2	37	c.526		10	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707329	0.68615	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.65178	-0.14;-0.1;-0.04;-0.02	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	M	0.63843	1.955	0.43632	D	0.996025	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	T	0.80460	-0.1373	10	0.87932	D	0	-10.7094	18.2498	0.89998	0.0:0.0:1.0:0.0	.	189;124	E5RFC0;Q8N7W2-3	.;.	V	176;124;189;137	ENSP00000380108:L176V;ENSP00000345773:L124V;ENSP00000380107:L189V;ENSP00000367868:L137V	ENSP00000345773:L124V	L	-	1	2	BEND7	13578817	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.717000	0.68446	2.363000	0.80096	0.555000	0.69702	CTA	BEND7	-	NULL		0.413	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		G	NM_152751		13538811	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	1.000	C
BEST3	144453	genome.wustl.edu	37	12	70048688	70048688	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:70048688C>T	ENST00000330891.5	-	10	2232	c.2006G>A	c.(2005-2007)tGa>tAa	p.*669*	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.*563*|BEST3_ENST00000488961.1_Silent_p.*456*	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	0					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGTGGCACTCATTTGGGTGA	0.448																																																	0													124.0	117.0	119.0					12																	70048688		1919	4135	6054	SO:0001819	synonymous_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.2006G>A	12.37:g.70048688C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	pfam_Bestrophin/UPF0187	p.*669	ENST00000330891.5	37	c.2006	CCDS8992.2	12																																																																																			BEST3	-	NULL		0.448	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	C	NM_152439		70048688	-1	no_errors	ENST00000330891	ensembl	human	known	70_37	silent	SNP	0.015	T
BHLHA15	168620	genome.wustl.edu	37	7	97842040	97842040	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:97842040C>T	ENST00000609256.1	+	2	545	c.419C>T	c.(418-420)cCa>cTa	p.P140L	BHLHA15_ENST00000314018.2_Missense_Mutation_p.P140L			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	140					calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)										AGCCGCCTCCCAGGCCTGGAG	0.667																																																	0													19.0	16.0	17.0					7																	97842040		2159	4235	6394	SO:0001583	missense	168620			BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"""Basic helix-loop-helix proteins"""	22265	protein-coding gene	gene with protein product		608606	"""basic helix-loop-helix domain containing, class B, 8"""	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.419C>T	7.37:g.97842040C>T	ENSP00000476312:p.Pro140Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D271|Q14DE4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P140L	ENST00000609256.1	37	c.419	CCDS5655.1	7	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474201	0.43942	.	.	ENSG00000180535	ENST00000314018	D	0.94092	-3.35	4.88	3.03	0.35002	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	U	0.000000	D	0.91023	0.7176	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.51135	0.66	D	0.89608	0.3839	10	0.72032	D	0.01	-13.1645	10.7191	0.46030	0.1488:0.7081:0.1431:0.0	.	140	Q7RTS1	BHA15_HUMAN	L	140	ENSP00000326391:P140L	ENSP00000326391:P140L	P	+	2	0	BHLHA15	97679976	1.000000	0.71417	0.521000	0.27850	0.010000	0.07245	5.860000	0.69546	0.458000	0.26988	-0.304000	0.09214	CCA	BHLHA15	-	superfamily_HLH_dom		0.667	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BHLHA15	HGNC	protein_coding	OTTHUMT00000472733.1	C	NM_177455		97842040	+1	no_errors	ENST00000314018	ensembl	human	known	70_37	missense	SNP	0.968	T
BPIFB4	149954	genome.wustl.edu	37	20	31680335	31680335	+	Silent	SNP	G	G	A	rs200333820		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:31680335G>A	ENST00000375483.3	+	9	1215	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	405						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTCCCAAGCCGATGCCAGAGC	0.597																																																	0													74.0	66.0	69.0					20																	31680335		2203	4300	6503	SO:0001819	synonymous_variant	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1215G>A	20.37:g.31680335G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDX6	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P405	ENST00000375483.3	37	c.1215	CCDS13213.2	20																																																																																			BPIFB4	-	superfamily_Bactericidal_perm-incr_a/b_dom		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519		31680335	+1	no_errors	ENST00000375483	ensembl	human	known	70_37	silent	SNP	0.790	A
BPIFA4P	317716	genome.wustl.edu	37	20	31789380	31789380	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:31789380G>C	ENST00000375465.3	+	0	342					NR_026760.1		Q86YQ2	LATH_HUMAN	BPI fold containing family A, member 4, pseudogene							extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTCCATCGAGAGCACCCCTC	0.512																																																	0													199.0	172.0	180.0					20																	31789380		692	1591	2283			317716			AY180924		20q11.21	2013-01-24			ENSG00000183566	ENSG00000183566		"""BPI fold containing"""	20469	pseudogene	pseudogene	"""breast cancer and salivary gland expression gene"", ""PLUNC family pseudogene"""	607627				12538848, 21787333	Standard	NR_026760		Approved	BASE	uc002wyq.2	Q86YQ2	OTTHUMG00000032251		20.37:g.31789380G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000375465.3	37	NULL		20																																																																																			BPIFA4P	-	-		0.512	BPIFA4P-003	KNOWN	basic	processed_transcript	BPIFA4P	HGNC	pseudogene	OTTHUMT00000469705.1	G	NR_026760		31789380	+1	no_errors	ENST00000375465	ensembl	human	known	70_37	rna	SNP	0.000	C
BRCA1	672	genome.wustl.edu	37	17	41209115	41209115	+	Missense_Mutation	SNP	C	C	T	rs397509241|rs397509240|rs273901753|rs80357852		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41209115C>T	ENST00000357654.3	-	19	5349	c.5231G>A	c.(5230-5232)aGa>aAa	p.R1744K	BRCA1_ENST00000468300.1_Missense_Mutation_p.R640K|BRCA1_ENST00000591534.1_Missense_Mutation_p.R235K|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1765K|BRCA1_ENST00000586385.1_Missense_Mutation_p.R54K|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1479K|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1697K|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1448K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1505K|BRCA1_ENST00000491747.2_Missense_Mutation_p.R640K|BRCA1_ENST00000352993.3_Missense_Mutation_p.R602K|BRCA1_ENST00000351666.3_Missense_Mutation_p.R561K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1744					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGTGGTTTCTTCCATTGAC	0.453			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													339.0	316.0	324.0					17																	41209115		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5231G>A	17.37:g.41209115C>T	ENSP00000350283:p.Arg1744Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.R1765K	ENST00000357654.3	37	c.5294	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685540	0.88639	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	D;D;D;T;D;D;D;D;D	0.87412	-2.11;-2.25;-2.11;0.94;-2.11;-2.11;-2.11;-2.11;-2.11	5.07	5.07	0.68467	BRCT (1);	0.133437	0.34338	N	0.004053	D	0.87509	0.6195	L	0.27053	0.805	0.34091	D	0.660722	P;P;P;P;P;B;P	0.46912	0.85;0.522;0.69;0.493;0.818;0.013;0.886	P;B;B;B;B;B;P	0.58266	0.836;0.076;0.093;0.173;0.39;0.007;0.594	D	0.91337	0.5094	10	0.87932	D	0	.	13.8227	0.63333	0.0:1.0:0.0:0.0	.	593;54;639;640;1766;1744;1744	B4DES0;C6YB45;E7ETR2;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;BRCA1_HUMAN;.	K	1744;1765;1479;602;1505;561;1448;640;593;1766;1697;639	ENSP00000350283:R1744K;ENSP00000326002:R1479K;ENSP00000312236:R602K;ENSP00000246907:R1505K;ENSP00000338007:R561K;ENSP00000310938:R1448K;ENSP00000417148:R640K;ENSP00000377294:R593K;ENSP00000418775:R1697K	ENSP00000310938:R1448K	R	-	2	0	BRCA1	38462641	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.377000	0.44300	2.648000	0.89879	0.557000	0.71058	AGA	BRCA1	-	pirsf_BRCA1,superfamily_BRCT_dom		0.453	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41209115	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	T
BRDT	676	genome.wustl.edu	37	1	92441988	92441988	+	Missense_Mutation	SNP	C	C	T	rs148311319		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:92441988C>T	ENST00000362005.3	+	6	1029	c.611C>T	c.(610-612)gCg>gTg	p.A204V	BRDT_ENST00000399546.2_Missense_Mutation_p.A204V|BRDT_ENST00000402388.1_Missense_Mutation_p.A204V|BRDT_ENST00000394530.3_Missense_Mutation_p.A158V|BRDT_ENST00000370389.2_Missense_Mutation_p.A131V	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	204					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCACAAACTGCGGCCCAAGTA	0.358																																																	0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	62.0	59.0	60.0		611,623,473,473,392,611,611	1.1	0.0	1	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	64,64,64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	204/948,208/952,158/902,158/902,131/875,204/948,204/948	92441988	1,13005	2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.611C>T	1.37:g.92441988C>T	ENSP00000354568:p.Ala204Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A204V	ENST00000362005.3	37	c.611	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	0.737	-0.777702	0.02929	0.0	1.16E-4	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.09911	3.28;3.28;3.28;3.33;2.93;3.28	4.81	1.14	0.20703	.	0.551776	0.17055	N	0.188795	T	0.00384	0.0012	N	0.00082	-2.215	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.39165	-0.9627	10	0.02654	T	1	0.2347	4.1673	0.10313	0.0:0.1883:0.1757:0.636	.	158;158;208;204	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	V	204;131;204;204;158;204;204	ENSP00000354568:A204V;ENSP00000359416:A131V;ENSP00000387822:A204V;ENSP00000378038:A158V;ENSP00000404969:A204V;ENSP00000384051:A204V	ENSP00000354568:A204V	A	+	2	0	BRDT	92214576	0.040000	0.19996	0.003000	0.11579	0.014000	0.08584	0.610000	0.24253	0.011000	0.14865	-0.351000	0.07748	GCG	BRDT	-	NULL		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92441988	+1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.003	T
BRWD1	54014	genome.wustl.edu	37	21	40641950	40641950	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:40641950C>T	ENST00000333229.2	-	15	1732	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	BRWD1_ENST00000380800.3_Missense_Mutation_p.D469N|BRWD1_ENST00000342449.3_Missense_Mutation_p.D469N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	469					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATACTTCATCAGCATGTCCC	0.318																																					Melanoma(170;988 1986 4794 16843 39731)												0													73.0	69.0	70.0					21																	40641950		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1405G>A	21.37:g.40641950C>T	ENSP00000330753:p.Asp469Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D469N	ENST00000333229.2	37	c.1405	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220357	0.79464	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.60548	0.18;0.18;0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070696	0.64402	D	0.000017	T	0.62417	0.2426	N	0.25144	0.715	0.80722	D	1	D;D;P	0.89917	0.959;1.0;0.889	P;D;P	0.91635	0.833;0.999;0.526	T	0.62402	-0.6862	10	0.44086	T	0.13	-13.8096	12.8448	0.57823	0.0:0.9257:0.0:0.0743	.	180;469;469	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	469	ENSP00000330753:D469N;ENSP00000344333:D469N;ENSP00000370178:D469N	ENSP00000330753:D469N	D	-	1	0	BRWD1	39563820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.618000	0.61211	2.636000	0.89361	0.557000	0.71058	GAT	BRWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.318	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40641950	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	T
BRWD3	254065	genome.wustl.edu	37	X	80064057	80064057	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:80064057C>T	ENST00000373275.4	-	4	377	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	54					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						GAAGCTTCTTCGGTGCTCTTT	0.552																																																	0													54.0	51.0	52.0					X																	80064057		2203	4300	6503	SO:0001583	missense	254065				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.161G>A	X.37:g.80064057C>T	ENSP00000362372:p.Arg54Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	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.R54Q	ENST00000373275.4	37	c.161	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	c	6.688	0.495477	0.12762	.	.	ENSG00000165288	ENST00000373275	T	0.10288	2.89	4.97	4.02	0.46733	.	0.263341	0.31279	N	0.007924	T	0.03651	0.0104	N	0.03050	-0.425	0.24018	N	0.996151	B	0.14805	0.011	B	0.08055	0.003	T	0.42732	-0.9434	9	.	.	.	-5.3435	6.3036	0.21127	0.0:0.8602:0.0:0.1398	.	54	Q6RI45	BRWD3_HUMAN	Q	54	ENSP00000362372:R54Q	.	R	-	2	0	BRWD3	79950713	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	2.093000	0.41710	2.306000	0.77630	0.495000	0.49567	CGA	BRWD3	-	NULL		0.552	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		80064057	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.992	T
C10orf90	118611	genome.wustl.edu	37	10	128193393	128193393	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:128193393C>G	ENST00000284694.7	-	3	496	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E79Q|C10orf90_ENST00000356858.3_Missense_Mutation_p.E79Q|C10orf90_ENST00000544758.1_Missense_Mutation_p.E223Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.E126Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	126	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGTCTCTCCTCTTTGGGCGGC	0.647											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42.0	41.0	41.0					10																	128193393		2201	4298	6499	SO:0001583	missense	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.376G>C	10.37:g.128193393C>G	ENSP00000284694:p.Glu126Gln	Somatic	1563	WXS	Illumina HiSeq	Phase_IV	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.E223Q	ENST00000284694.7	37	c.667	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669020	0.67814	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.29917	1.86;1.84;1.89;1.87;1.55	4.87	4.87	0.63330	.	0.354519	0.24249	N	0.040186	T	0.46092	0.1375	L	0.56769	1.78	0.09310	N	1	D;D;D;D;P	0.76494	0.998;0.998;0.999;0.993;0.899	P;P;D;P;P	0.64877	0.898;0.898;0.93;0.835;0.571	T	0.29792	-1.0000	10	0.41790	T	0.15	-8.369	10.3484	0.43920	0.0:0.9105:0.0:0.0895	.	223;223;79;126;126	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	Q	79;126;126;223;126;79;79	ENSP00000284694:E126Q;ENSP00000398786:E126Q;ENSP00000444369:E223Q;ENSP00000405995:E126Q;ENSP00000376459:E79Q	ENSP00000284694:E126Q	E	-	1	0	C10orf90	128183383	0.000000	0.05858	0.005000	0.12908	0.176000	0.22953	0.092000	0.15066	2.524000	0.85096	0.561000	0.74099	GAG	C10orf90	-	NULL		0.647	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		C	NM_001004298		128193393	-1	no_errors	ENST00000544758	ensembl	human	known	70_37	missense	SNP	0.006	G
SMCO2	341346	genome.wustl.edu	37	12	27648695	27648695	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:27648695C>T	ENST00000535986.1	+	7	740	c.740C>T	c.(739-741)tCt>tTt	p.S247F	SMCO2_ENST00000416383.1_Missense_Mutation_p.S247F|SMCO2_ENST00000298876.4_Missense_Mutation_p.S197F|SMCO2_ENST00000538647.1_3'UTR			A6NFE2	SMCO2_HUMAN	single-pass membrane protein with coiled-coil domains 2	247						integral component of membrane (GO:0016021)											TCTCACAGTTCTGAGGAAATA	0.473																																																	0													84.0	78.0	80.0					12																	27648695		682	1590	2272	SO:0001583	missense	341346				CCDS44852.1	12p11.23	2013-03-11	2013-03-11	2013-03-11	ENSG00000165935	ENSG00000165935			34448	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 70"""	C12orf70			Standard	NM_001145010		Approved	LOC341346	uc010sjq.2	A6NFE2	OTTHUMG00000169205	ENST00000535986.1:c.740C>T	12.37:g.27648695C>T	ENSP00000441688:p.Ser247Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S247F	ENST00000535986.1	37	c.740	CCDS44852.1	12	.	.	.	.	.	.	.	.	.	.	c	12.27	1.889066	0.33348	.	.	ENSG00000165935	ENST00000298876;ENST00000416383;ENST00000535986	.	.	.	3.45	1.6	0.23607	.	0.562096	0.15058	N	0.282917	T	0.31949	0.0813	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.55391	0.775	T	0.07751	-1.0756	9	0.44086	T	0.13	-0.4255	5.0024	0.14271	0.0:0.6666:0.2152:0.1182	.	247	A6NFE2	CL070_HUMAN	F	197;247;247	.	ENSP00000298876:S197F	S	+	2	0	C12orf70	27539962	0.070000	0.21116	0.005000	0.12908	0.004000	0.04260	0.744000	0.26245	0.453000	0.26858	-0.808000	0.03180	TCT	C12orf70	-	NULL		0.473	SMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf70	HGNC	protein_coding	OTTHUMT00000402867.1	C	NM_001145010		27648695	+1	no_errors	ENST00000416383	ensembl	human	known	70_37	missense	SNP	0.007	T
C14orf23	387978	genome.wustl.edu	37	14	29261122	29261122	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:29261122G>A	ENST00000399387.4	+	3	263	c.159G>A	c.(157-159)atG>atA	p.M53I	C14orf23_ENST00000550266.1_Intron|C14orf23_ENST00000548213.1_Intron					chromosome 14 open reading frame 23											central_nervous_system(1)	1						AGGCTGGCATGATCATCAGCT	0.353																																																	0																																										SO:0001583	missense	387978					14q11.2	2013-01-15			ENSG00000186960	ENSG00000186960			19828	other	unknown							Standard	NR_026731		Approved		uc001wqf.3	Q86U37	OTTHUMG00000029410	ENST00000399387.4:c.159G>A	14.37:g.29261122G>A	ENSP00000382318:p.Met53Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.M53I	ENST00000399387.4	37	c.159		14	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005215	0.19199	.	.	ENSG00000186960	ENST00000399387	.	.	.	4.31	1.25	0.21368	.	0.414278	0.17708	U	0.164697	T	0.22322	0.0538	.	.	.	0.09310	N	1	B	0.32829	0.386	B	0.21546	0.035	T	0.12941	-1.0528	8	0.87932	D	0	.	6.4236	0.21758	0.3419:0.0:0.6581:0.0	.	53	Q86U37	CN023_HUMAN	I	53	.	ENSP00000382318:M53I	M	+	3	0	C14orf23	28330873	0.025000	0.19082	0.002000	0.10522	0.492000	0.33523	0.650000	0.24858	0.145000	0.18977	0.467000	0.42956	ATG	C14orf23	-	NULL		0.353	C14orf23-003	KNOWN	basic|appris_candidate_longest	protein_coding	C14orf23	HGNC	protein_coding	OTTHUMT00000134019.2	G	NR_026731		29261122	+1	no_errors	ENST00000399387	ensembl	human	known	70_37	missense	SNP	0.002	A
C17orf75	64149	genome.wustl.edu	37	17	30669122	30669122	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:30669122C>G	ENST00000577809.1	-	1	86	c.37G>C	c.(37-39)Gaa>Caa	p.E13Q	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E13Q	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	13										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTTCCTTTTCATCTCCATCC	0.627																																																	0													30.0	36.0	34.0					17																	30669122		1999	4165	6164	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.37G>C	17.37:g.30669122C>G	ENSP00000464275:p.Glu13Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2H4	Missense_Mutation	SNP	NULL	p.E13Q	ENST00000577809.1	37	c.37	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676545	0.29783	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.99	0.66335	.	0.222293	0.45361	D	0.000361	T	0.54727	0.1876	L	0.43152	1.355	0.49389	D	0.999782	B	0.34329	0.449	B	0.37888	0.26	T	0.59852	-0.7376	9	0.66056	D	0.02	-3.7539	16.2239	0.82280	0.0:1.0:0.0:0.0	.	13	Q9HAS0	NJMU_HUMAN	Q	13	.	ENSP00000225805:E13Q	E	-	1	0	C17orf75	27693235	0.997000	0.39634	0.728000	0.30774	0.131000	0.20780	4.765000	0.62271	2.584000	0.87258	0.455000	0.32223	GAA	C17orf75	-	NULL		0.627	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	C	NM_022344		30669122	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	0.964	G
C3orf49	132200	genome.wustl.edu	37	3	63813388	63813388	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:63813388C>T	ENST00000295896.8	+	3	667	c.557C>T	c.(556-558)tCa>tTa	p.S186L	AC136289.1_ENST00000443346.1_RNA			Q96BT1	CC049_HUMAN	chromosome 3 open reading frame 49	186										breast(2)	2						TCTCTTCCTTCAGGACTGCAA	0.443																																																	0																																										SO:0001583	missense	132200			BC015210		3p14.1	2013-01-15			ENSG00000163632	ENSG00000163632			25190	other	unknown						12477932	Standard	NR_026866		Approved		uc003dls.4	Q96BT1	OTTHUMG00000158761	ENST00000295896.8:c.557C>T	3.37:g.63813388C>T	ENSP00000295896:p.Ser186Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S186L	ENST00000295896.8	37	c.557		3	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680133	0.47886	.	.	ENSG00000163632	ENST00000295896	.	.	.	5.76	2.93	0.34026	.	0.660753	0.14006	N	0.347781	T	0.29882	0.0747	.	.	.	0.25023	N	0.991323	B	0.16802	0.019	B	0.16289	0.015	T	0.29792	-1.0000	8	0.87932	D	0	-0.1207	4.1245	0.10121	0.2878:0.4957:0.1395:0.0771	.	186	Q96BT1	CC049_HUMAN	L	186	.	ENSP00000295896:S186L	S	+	2	0	C3orf49	63788428	0.002000	0.14202	0.797000	0.32132	0.938000	0.57974	0.912000	0.28597	0.327000	0.23409	0.650000	0.86243	TCA	C3orf49	-	NULL		0.443	C3orf49-001	KNOWN	basic|appris_principal	protein_coding	C3orf49	HGNC	protein_coding	OTTHUMT00000352067.1	C	NR_026866		63813388	+1	no_errors	ENST00000295896	ensembl	human	known	70_37	missense	SNP	0.856	T
C4BPA	722	genome.wustl.edu	37	1	207307836	207307836	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207307836A>G	ENST00000367070.3	+	9	1366	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	391	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTTATTTCTATGGAGATGAG	0.418																																																	0													180.0	165.0	170.0					1																	207307836		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1172A>G	1.37:g.207307836A>G	ENSP00000356037:p.Tyr391Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVQ8	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y391C	ENST00000367070.3	37	c.1172	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484234	0.63962	.	.	ENSG00000123838	ENST00000367070	T	0.66815	-0.23	4.77	-9.53	0.00575	Complement control module (2);Sushi/SCR/CCP (3);	1.890110	0.02572	N	0.097857	T	0.77308	0.4111	M	0.86178	2.8	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.77230	-0.2664	10	0.52906	T	0.07	.	4.3911	0.11341	0.1464:0.1968:0.0733:0.5836	.	391	P04003	C4BPA_HUMAN	C	391	ENSP00000356037:Y391C	ENSP00000356037:Y391C	Y	+	2	0	C4BPA	205374459	0.000000	0.05858	0.000000	0.03702	0.767000	0.43475	-2.076000	0.01373	-1.990000	0.00978	0.482000	0.46254	TAT	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.418	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	A			207307836	+1	no_errors	ENST00000367070	ensembl	human	known	70_37	missense	SNP	0.000	G
C4orf19	55286	genome.wustl.edu	37	4	37592147	37592147	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:37592147T>A	ENST00000284437.6	+	3	648	c.470T>A	c.(469-471)gTc>gAc	p.V157D	C4orf19_ENST00000381980.4_Missense_Mutation_p.V157D|C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	157										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GGGACCCAAGTCATGAGAAAT	0.527																																																	0													75.0	78.0	77.0					4																	37592147		2203	4300	6503	SO:0001583	missense	55286			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.470T>A	4.37:g.37592147T>A	ENSP00000284437:p.Val157Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NV03	Missense_Mutation	SNP	NULL	p.V157D	ENST00000284437.6	37	c.470	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678405	0.47886	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.28255	1.62;1.62	5.24	-0.215	0.13157	.	0.691137	0.13242	N	0.402783	T	0.23054	0.0557	L	0.56769	1.78	0.18873	N	0.999988	B	0.27351	0.176	B	0.26202	0.067	T	0.33624	-0.9861	10	0.62326	D	0.03	-7.3888	0.5111	0.00596	0.3378:0.161:0.1268:0.3744	.	157	Q8IY42	CD019_HUMAN	D	157	ENSP00000371408:V157D;ENSP00000284437:V157D	ENSP00000284437:V157D	V	+	2	0	C4orf19	37268542	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.473000	0.22132	-0.077000	0.12752	-0.250000	0.11733	GTC	C4orf19	-	NULL		0.527	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	T	NM_018302		37592147	+1	no_errors	ENST00000284437	ensembl	human	known	70_37	missense	SNP	0.001	A
C5orf56	441108	genome.wustl.edu	37	5	131796346	131796346	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:131796346G>C	ENST00000337752.2	+	4	312	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	61										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						cttccccgtggagtacagcca	0.478																																																	0													174.0	152.0	160.0					5																	131796346		2203	4300	6503	SO:0001583	missense	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.181G>C	5.37:g.131796346G>C	ENSP00000338228:p.Glu61Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3V9|A6NKA0	Missense_Mutation	SNP	NULL	p.E61Q	ENST00000337752.2	37	c.181		5	.	.	.	.	.	.	.	.	.	.	G	8.503	0.864756	0.17250	.	.	ENSG00000197536	ENST00000337752	.	.	.	2.44	-0.464	0.12160	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	0.999998	B	0.33318	0.408	B	0.27076	0.076	T	0.18272	-1.0342	7	0.87932	D	0	.	2.9841	0.05962	0.2952:0.2377:0.4671:0.0	.	61	Q8N8D9	CE056_HUMAN	Q	61	.	ENSP00000338228:E61Q	E	+	1	0	C5orf56	131824245	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.511000	0.06321	-0.132000	0.11557	-0.140000	0.14226	GAG	C5orf56	-	NULL		0.478	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	G	NM_001013717		131796346	+1	no_errors	ENST00000337752	ensembl	human	novel	70_37	missense	SNP	0.005	C
C6orf118	168090	genome.wustl.edu	37	6	165695236	165695236	+	Intron	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:165695236T>C	ENST00000230301.8	-	8	1323				C6orf118_ENST00000543069.1_Intron|C6orf118_ENST00000494696.2_Intron	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118											breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TATTTGTTAATTATTTTTCTC	0.239																																																	0													11.0	10.0	11.0					6																	165695236		681	1531	2212	SO:0001627	intron_variant	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1303-54A>G	6.37:g.165695236T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC11	RNA	SNP	-	NULL	ENST00000230301.8	37	NULL	CCDS5288.1	6																																																																																			C6orf118	-	-		0.239	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	T	NM_144980		165695236	-1	no_errors	ENST00000491176	ensembl	human	known	70_37	rna	SNP	0.001	C
C7orf65	401335	genome.wustl.edu	37	7	47698634	47698634	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:47698634G>A	ENST00000408988.2	+	3	299	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	88										endometrium(1)|lung(2)	3						GACCTGCCCAGAATTCATGTG	0.507																																																	0													105.0	97.0	99.0					7																	47698634		1568	3582	5150	SO:0001819	synonymous_variant	401335				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.264G>A	7.37:g.47698634G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2F8	Silent	SNP	NULL	p.Q88	ENST00000408988.2	37	c.264	CCDS43580.1	7																																																																																			C7orf65	-	NULL		0.507	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf65	HGNC	protein_coding	OTTHUMT00000340616.1	G	NM_001123065		47698634	+1	no_errors	ENST00000408988	ensembl	human	putative	70_37	silent	SNP	0.002	A
CA10	56934	genome.wustl.edu	37	17	49710909	49710909	+	Missense_Mutation	SNP	G	G	A	rs368512398		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:49710909G>A	ENST00000285273.4	-	9	2003	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	CA10_ENST00000442502.2_Missense_Mutation_p.R298C|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000570565.1_Missense_Mutation_p.R223C|CA10_ENST00000340813.6_Missense_Mutation_p.R304C|CA10_ENST00000451037.2_Missense_Mutation_p.R298C	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	298					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	ATATTGGTGCGGATGCAGCGG	0.532																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	136.0	118.0	124.0		892,892,892	5.4	1.0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CA10	NM_001082533.1,NM_001082534.1,NM_020178.4	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	298/329,298/329,298/329	49710909	1,13005	2203	4300	6503	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.892C>T	17.37:g.49710909G>A	ENSP00000285273:p.Arg298Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R304C	ENST00000285273.4	37	c.910	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.202341	0.94997	0.0	1.16E-4	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.051589	0.85682	D	0.000000	D	0.86234	0.5884	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88196	0.2880	10	0.87932	D	0	.	18.2623	0.90039	0.0:0.0:1.0:0.0	.	298;304;223	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	C	298;298;298;304	ENSP00000390666:R298C;ENSP00000285273:R298C;ENSP00000405388:R298C;ENSP00000340363:R304C	ENSP00000285273:R298C	R	-	1	0	CA10	47065908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.558000	0.86282	0.655000	0.94253	CGC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.532	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	G	NM_020178		49710909	-1	no_errors	ENST00000340813	ensembl	human	known	70_37	missense	SNP	1.000	A
CA12	771	genome.wustl.edu	37	15	63619425	63619425	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63619425G>A	ENST00000178638.3	-	10	1355	c.915C>T	c.(913-915)atC>atT	p.I305I	CA12_ENST00000560666.1_5'UTR|CA12_ENST00000344366.3_Silent_p.I294I|CA12_ENST00000422263.2_Silent_p.I234I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	305				I -> T (in Ref. 4; BAG38121). {ECO:0000305}.	bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CCAGTGAGAGGATGATGCCTG	0.532																																																	0													198.0	161.0	174.0					15																	63619425		2203	4300	6503	SO:0001819	synonymous_variant	771			AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.915C>T	15.37:g.63619425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE24|Q53YE5|Q9BWG2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.I305	ENST00000178638.3	37	c.915	CCDS10185.1	15																																																																																			CA12	-	NULL		0.532	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CA12	HGNC	protein_coding	OTTHUMT00000256370.1	G	NM_001218		63619425	-1	no_errors	ENST00000178638	ensembl	human	known	70_37	silent	SNP	1.000	A
CA6	765	genome.wustl.edu	37	1	9011498	9011498	+	Intron	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:9011498C>A	ENST00000377443.2	+	2	263				CA6_ENST00000377436.3_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000480186.3_Silent_p.L92L	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	AGGCGGAACTCTTCCTCCCCT	0.493																																																	0													29.0	28.0	28.0					1																	9011498		876	1991	2867	SO:0001627	intron_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+1997C>A	1.37:g.9011498C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L92	ENST00000377443.2	37	c.276	CCDS30578.1	1																																																																																			CA6	-	pfscan_Carbonic_anhydrase_a		0.493	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1	C			9011498	+1	no_errors	ENST00000319474	ensembl	human	known	70_37	silent	SNP	0.000	A
CA14	23632	genome.wustl.edu	37	1	150237051	150237051	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:150237051G>A	ENST00000369111.4	+	11	1976	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	336					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	AGCCACGACTGAGGCATAAAT	0.478																																																	0													93.0	74.0	80.0					1																	150237051		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.1006G>A	1.37:g.150237051G>A	ENSP00000358107:p.Glu336Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E336K	ENST00000369111.4	37	c.1006	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.422832	0.96111	.	.	ENSG00000118298	ENST00000369111	T	0.67345	-0.26	4.86	4.86	0.63082	.	0.757041	0.12147	N	0.495245	T	0.35913	0.0948	N	0.14661	0.345	0.20638	N	0.999872	P	0.40970	0.734	B	0.37731	0.257	T	0.39643	-0.9604	10	0.72032	D	0.01	.	13.3664	0.60687	0.0:0.0:1.0:0.0	.	336	Q9ULX7	CAH14_HUMAN	K	336	ENSP00000358107:E336K	ENSP00000358107:E336K	E	+	1	0	CA14	148503675	0.980000	0.34600	0.216000	0.23742	0.700000	0.40528	2.721000	0.47260	2.525000	0.85131	0.655000	0.94253	GAG	CA14	-	NULL		0.478	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150237051	+1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.272	A
CAD	790	genome.wustl.edu	37	2	27459279	27459279	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27459279G>C	ENST00000403525.1	+	25	4157	c.4013G>C	c.(4012-4014)gGg>gCg	p.G1338A	CAD_ENST00000264705.4_Missense_Mutation_p.G1401A			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGAGCTGGGGGCCGGCGT	0.572																																																	0													83.0	80.0	81.0					2																	27459279		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4013G>C	2.37:g.27459279G>C	ENSP00000384510:p.Gly1338Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G1401A	ENST00000403525.1	37	c.4202		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997441|3.997441	0.74818|0.74818	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|T	0.79845|0.81330	-1.31;-1.31|-1.48	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.097920|0.097920	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.80065|0.80065	0.4555|0.4555	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	P;D|.	0.67145|.	0.765;0.996|.	B;P|.	0.62382|.	0.406;0.901|.	T|T	0.79841|0.79841	-0.1633|-0.1633	10|8	0.30854|0.41790	T|T	0.27|0.15	-13.1912|-13.1912	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1338;1401|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	A|R	1401;1338|46	ENSP00000264705:G1401A;ENSP00000384510:G1338A|ENSP00000414742:G46R	ENSP00000264705:G1401A|ENSP00000414742:G46R	G|G	+|+	2|1	0|0	CAD|CAD	27312783|27312783	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.950000|0.950000	0.60333|0.60333	8.983000|8.983000	0.93477|0.93477	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GGG|GGG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459279	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C
CADM4	199731	genome.wustl.edu	37	19	44129384	44129384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:44129384C>T	ENST00000222374.2	-	7	822	c.774G>A	c.(772-774)tgG>tgA	p.W258*	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	258	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCCGCGGTTCCAGCGGATCT	0.577																																																	0													39.0	41.0	41.0					19																	44129384		2203	4300	6503	SO:0001587	stop_gained	199731			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.774G>A	19.37:g.44129384C>T	ENSP00000222374:p.Trp258*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7L5|Q9Y4A4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.W258*	ENST00000222374.2	37	c.774	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.130746	0.97310	.	.	ENSG00000105767	ENST00000222374	.	.	.	5.38	5.38	0.77491	.	0.078048	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6896	0.85318	0.0:1.0:0.0:0.0	.	.	.	.	X	258	.	ENSP00000222374:W258X	W	-	3	0	CADM4	48821224	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.421000	0.52742	2.549000	0.85964	0.650000	0.86243	TGG	CADM4	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	C	NM_145296		44129384	-1	no_errors	ENST00000222374	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CAMSAP1	157922	genome.wustl.edu	37	9	138710415	138710415	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:138710415C>T	ENST00000389532.4	-	13	4071	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1336					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTCGCGCCGCGCCTTCTC	0.632																																																	0													62.0	55.0	57.0					9																	138710415		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4007G>A	9.37:g.138710415C>T	ENSP00000374183:p.Arg1336Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R1347Q	ENST00000389532.4	37	c.4040	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	32	5.134924	0.94517	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.33865	1.4;1.51;1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68640	-0.5355	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1336;1347	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1336;1058;1347	ENSP00000374183:R1336Q;ENSP00000312463:R1058Q;ENSP00000386420:R1347Q	ENSP00000312463:R1058Q	R	-	2	0	CAMSAP1	137850236	1.000000	0.71417	0.270000	0.24601	0.922000	0.55478	5.983000	0.70540	2.386000	0.81285	0.655000	0.94253	CGG	CAMSAP1	-	NULL		0.632	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138710415	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.996	T
CARD11	84433	genome.wustl.edu	37	7	2962373	2962373	+	Missense_Mutation	SNP	C	C	T	rs560138497		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:2962373C>T	ENST00000396946.4	-	17	2567	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	722	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCTGCCTCTCGCCTCGGATG	0.612			Mis		DLBCL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19125	0.0		0.0	False		,,,				2504	0.0							Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													123.0	82.0	96.0					7																	2962373		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2164G>A	7.37:g.2962373C>T	ENSP00000380150:p.Glu722Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E722K	ENST00000396946.4	37	c.2164	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764055	0.31228	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.56941	0.43;0.43	5.14	5.14	0.70334	PDZ/DHR/GLGF (2);	0.057147	0.64402	D	0.000002	T	0.34424	0.0897	N	0.19112	0.55	0.48135	D	0.999593	B	0.25441	0.126	B	0.20184	0.028	T	0.17018	-1.0383	10	0.33141	T	0.24	-30.3844	9.2985	0.37831	0.0:0.7769:0.1459:0.0772	.	722	Q9BXL7	CAR11_HUMAN	K	722;193	ENSP00000380150:E722K;ENSP00000347695:E193K	ENSP00000347695:E193K	E	-	1	0	CARD11	2928899	0.997000	0.39634	0.977000	0.42913	0.897000	0.52465	3.427000	0.52785	2.396000	0.81511	0.555000	0.69702	GAG	CARD11	-	superfamily_PDZ		0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2962373	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.961	T
CASD1	64921	genome.wustl.edu	37	7	94166900	94166900	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:94166900C>T	ENST00000297273.4	+	9	1247	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	320						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGTTTTTTCACTTTATCTA	0.373																																																	0													99.0	105.0	103.0					7																	94166900		2203	4300	6503	SO:0001819	synonymous_variant	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.960C>T	7.37:g.94166900C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Silent	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.F320	ENST00000297273.4	37	c.960	CCDS5636.1	7																																																																																			CASD1	-	NULL		0.373	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	C	NM_022900		94166900	+1	no_errors	ENST00000297273	ensembl	human	known	70_37	silent	SNP	0.681	T
CASP6	839	genome.wustl.edu	37	4	110615848	110615848	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:110615848C>T	ENST00000265164.2	-	5	393	c.316G>A	c.(316-318)Gtt>Att	p.V106I	CASP6_ENST00000505486.1_Missense_Mutation_p.C80Y|CASP6_ENST00000352981.3_Missense_Mutation_p.V17I|AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	106					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCGTGGCTAACAGTTGACACT	0.348																																																	0													62.0	60.0	61.0					4																	110615848		2203	4300	6503	SO:0001583	missense	839			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.316G>A	4.37:g.110615848C>T	ENSP00000265164:p.Val106Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQE7	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.V106I	ENST00000265164.2	37	c.316	CCDS3684.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.562270|2.562270	0.45694|0.45694	.|.	.|.	ENSG00000138794|ENSG00000138794	ENST00000505486|ENST00000352981;ENST00000265164;ENST00000503684	T|T;T;T	0.55930|0.60920	0.49|0.15;0.15;0.15	5.7|5.7	-4.07|-4.07	0.03975|0.03975	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.|0.587265	.|0.17852	.|N	.|0.159816	T|T	0.33294|0.33294	0.0858|0.0858	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.0	.|B;B	.|0.20577	.|0.03;0.002	T|T	0.14392|0.14392	-1.0474|-1.0474	7|10	0.87932|0.54805	D|T	0|0.06	.|.	12.8599|12.8599	0.57908|0.57908	0.1825:0.6417:0.0:0.1758|0.1825:0.6417:0.0:0.1758	.|.	.|17;106	.|P55212-2;P55212	.|.;CASP6_HUMAN	Y|I	80|17;106;88	ENSP00000424080:C80Y|ENSP00000285333:V17I;ENSP00000265164:V106I;ENSP00000427669:V88I	ENSP00000424080:C80Y|ENSP00000265164:V106I	C|V	-|-	2|1	0|0	CASP6|CASP6	110835297|110835297	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.174000|0.174000	0.22865|0.22865	-0.080000|-0.080000	0.11339|0.11339	-0.940000|-0.940000	0.03705|0.03705	-0.265000|-0.265000	0.10407|0.10407	TGT|GTT	CASP6	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.348	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	C	NM_001226		110615848	-1	no_errors	ENST00000265164	ensembl	human	known	70_37	missense	SNP	0.000	T
CASQ1	844	genome.wustl.edu	37	1	160171065	160171065	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:160171065G>A	ENST00000368078.3	+	11	1286	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CASQ1_ENST00000467691.1_Missense_Mutation_p.E85K|RP11-536C5.7_ENST00000418602.1_RNA|CASQ1_ENST00000368079.3_Missense_Mutation_p.E358K			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	364	Asp-rich.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGGACGATGAGGAGGACCT	0.557																																																	0													205.0	148.0	167.0					1																	160171065		2203	4300	6503	SO:0001583	missense	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.1090G>A	1.37:g.160171065G>A	ENSP00000357057:p.Glu364Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.E364K	ENST00000368078.3	37	c.1090	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037481	0.19669	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.76316	-1.01;-1.01;-1.01	4.77	3.84	0.44239	Thioredoxin-like fold (2);	0.181464	0.46442	D	0.000290	T	0.59770	0.2218	L	0.46157	1.445	0.38969	D	0.95871	P	0.44195	0.828	B	0.43478	0.421	T	0.59526	-0.7438	10	0.16896	T	0.51	.	13.2842	0.60232	0.0:0.0:0.84:0.1599	.	364	P31415	CASQ1_HUMAN	K	358;364;279;85	ENSP00000357058:E358K;ENSP00000357057:E364K;ENSP00000418051:E85K	ENSP00000357057:E364K	E	+	1	0	CASQ1	158437689	1.000000	0.71417	0.479000	0.27329	0.039000	0.13416	8.774000	0.91767	1.211000	0.43351	-0.181000	0.13052	GAG	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin		0.557	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	G	NM_001231		160171065	+1	no_errors	ENST00000368078	ensembl	human	known	70_37	missense	SNP	0.998	A
CASS4	57091	genome.wustl.edu	37	20	55012265	55012265	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:55012265G>A	ENST00000360314.3	+	3	307	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CASS4_ENST00000434344.1_Missense_Mutation_p.D28N|CASS4_ENST00000371336.3_Missense_Mutation_p.D28N	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	28	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGACTGCTCTGACGAGCTGGC	0.572																																																	0													80.0	71.0	74.0					20																	55012265		2203	4300	6503	SO:0001583	missense	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.82G>A	20.37:g.55012265G>A	ENSP00000353462:p.Asp28Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D28N	ENST00000360314.3	37	c.82	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707892	0.68615	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.59772	0.24;0.24;0.24	5.71	3.72	0.42706	Src homology-3 domain (4);	0.048989	0.85682	D	0.000000	T	0.70718	0.3256	L	0.56199	1.76	0.50632	D	0.999882	P;D;D;D	0.89917	0.86;0.999;1.0;1.0	P;D;D;D	0.73380	0.792;0.952;0.977;0.98	T	0.73084	-0.4094	10	0.72032	D	0.01	-11.9335	14.932	0.70923	0.0:0.0:0.7382:0.2617	.	28;28;28;28	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	N	28	ENSP00000353462:D28N;ENSP00000360387:D28N;ENSP00000410027:D28N	ENSP00000353462:D28N	D	+	1	0	CASS4	54445672	1.000000	0.71417	0.014000	0.15608	0.357000	0.29423	7.352000	0.79404	0.723000	0.32274	0.655000	0.94253	GAC	CASS4	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	G	NM_020356		55012265	+1	no_errors	ENST00000360314	ensembl	human	known	70_37	missense	SNP	0.985	A
CC2D2A	57545	genome.wustl.edu	37	4	15482423	15482423	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:15482423G>A	ENST00000503292.1	+	5	399	c.219G>A	c.(217-219)ctG>ctA	p.L73L	CC2D2A_ENST00000511544.1_Missense_Mutation_p.E109K|CC2D2A_ENST00000438599.2_Missense_Mutation_p.E109K|CC2D2A_ENST00000413206.1_Silent_p.L73L|CC2D2A_ENST00000389652.5_Silent_p.L24L|CC2D2A_ENST00000503658.1_Missense_Mutation_p.E109K|CC2D2A_ENST00000515124.1_Silent_p.L73L|CC2D2A_ENST00000507954.1_Silent_p.L73L|CC2D2A_ENST00000424120.1_Silent_p.L73L|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	73					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCCGCCTCCTGAGTATGACAG	0.572																																																	0													32.0	34.0	33.0					4																	15482423		1899	4111	6010	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.219G>A	4.37:g.15482423G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.E109K	ENST00000503292.1	37	c.325	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498154	0.64186	.	.	ENSG00000048342	ENST00000438599;ENST00000511544;ENST00000503658	T;T;T	0.68903	-0.36;-0.36;-0.36	4.96	3.07	0.35406	.	.	.	.	.	T	0.57110	0.2031	.	.	.	0.09310	N	0.999998	P;B	0.40332	0.713;0.347	B;B	0.40477	0.33;0.209	T	0.53265	-0.8463	8	0.87932	D	0	.	5.8432	0.18645	0.237:0.0:0.763:0.0	.	70;109	Q8WVL8;E7EP21	.;.	K	109	ENSP00000401154:E109K;ENSP00000426109:E109K;ENSP00000426846:E109K	ENSP00000401154:E109K	E	+	1	0	CC2D2A	15091521	0.958000	0.32768	0.306000	0.25113	0.023000	0.10783	1.317000	0.33631	1.311000	0.45024	0.573000	0.79308	GAG	CC2D2A	-	NULL		0.572	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	G	NM_001080522		15482423	+1	no_errors	ENST00000438599	ensembl	human	known	70_37	missense	SNP	0.523	A
CCDC17	149483	genome.wustl.edu	37	1	46086631	46086631	+	Missense_Mutation	SNP	G	G	A	rs143765805		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:46086631G>A	ENST00000528266.1	-	11	1690	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.R506W|CCDC17_ENST00000343901.2_Missense_Mutation_p.R483W			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	515										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					GGAAGGGCCCGAAGTGGGAGG	0.587																																																	0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	36.0	36.0		1543,1516	4.8	1.0	1	dbSNP_134	36	0,8600		0,0,4300	no	missense,missense	CCDC17	NM_001114938.2,NM_001190182.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	515/623,506/614	46086631	1,13005	2203	4300	6503	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1543C>T	1.37:g.46086631G>A	ENSP00000432172:p.Arg515Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	NULL	p.R483W	ENST00000528266.1	37	c.1447	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086560	0.76642	2.27E-4	0.0	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.48201	0.82;0.82;0.82	5.81	4.82	0.62117	.	0.171410	0.38058	N	0.001827	T	0.66752	0.2821	M	0.71581	2.175	0.33330	D	0.568472	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.977;0.977	T	0.76293	-0.3012	10	0.87932	D	0	-13.9231	14.8513	0.70297	0.0:0.0:0.7857:0.2143	.	515;506;483	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	W	506;483;515	ENSP00000389415:R506W;ENSP00000341451:R483W;ENSP00000432172:R515W	ENSP00000341451:R483W	R	-	1	2	CCDC17	45859218	0.905000	0.30787	0.997000	0.53966	0.930000	0.56654	1.751000	0.38339	2.733000	0.93635	0.655000	0.94253	CGG	CCDC17	-	NULL		0.587	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	G	NM_152500		46086631	-1	no_errors	ENST00000343901	ensembl	human	known	70_37	missense	SNP	0.978	A
CCDC171	203238	genome.wustl.edu	37	9	15922183	15922183	+	Intron	SNP	C	C	T	rs370067560		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:15922183C>T	ENST00000380701.3	+	25	4081				CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171																		GCGAAACATTCCCCCAGGTGA	0.403																																																	0																																										SO:0001627	intron_variant	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3753+1763C>T	9.37:g.15922183C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	RNA	SNP	-	NULL	ENST00000380701.3	37	NULL	CCDS6481.1	9																																																																																			CCDC171	-	-		0.403	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	C	NM_173550		15922183	+1	no_errors	ENST00000486641	ensembl	human	known	70_37	rna	SNP	0.000	T
CCDC38	120935	genome.wustl.edu	37	12	96275268	96275268	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:96275268C>T	ENST00000344280.3	-	11	1542	c.985G>A	c.(985-987)Gat>Aat	p.D329N	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	329										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTACCAAATCAACGTCCATT	0.279																																																	0													75.0	72.0	73.0					12																	96275268		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.985G>A	12.37:g.96275268C>T	ENSP00000345470:p.Asp329Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N835	Missense_Mutation	SNP	NULL	p.D329N	ENST00000344280.3	37	c.985	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786948	0.31593	.	.	ENSG00000165972	ENST00000344280	T	0.44482	0.92	5.15	4.26	0.50523	.	0.451624	0.25458	N	0.030529	T	0.47710	0.1460	M	0.86178	2.8	0.21822	N	0.999521	P	0.38922	0.651	B	0.40901	0.343	T	0.43196	-0.9406	10	0.27785	T	0.31	-9.0649	9.6559	0.39925	0.0:0.9059:0.0:0.0941	.	329	Q502W7	CCD38_HUMAN	N	329	ENSP00000345470:D329N	ENSP00000345470:D329N	D	-	1	0	CCDC38	94799399	0.048000	0.20356	0.020000	0.16555	0.016000	0.09150	1.982000	0.40638	1.399000	0.46721	0.591000	0.81541	GAT	CCDC38	-	NULL		0.279	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96275268	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.023	T
CCDC74B	91409	genome.wustl.edu	37	2	130899945	130899945	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:130899945G>A	ENST00000310463.6	-	3	442	c.305C>T	c.(304-306)tCa>tTa	p.S102L	CCDC74B_ENST00000392984.3_Missense_Mutation_p.S204L|CCDC74B_ENST00000409128.1_Intron|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Intron	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	102										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGGTTTCCTGAGGGGCCATC	0.647																																																	0													19.0	20.0	20.0					2																	130899945		2175	4257	6432	SO:0001583	missense	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.305C>T	2.37:g.130899945G>A	ENSP00000308873:p.Ser102Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.S204L	ENST00000310463.6	37	c.611	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	13.73	2.323445	0.41096	.	.	ENSG00000152076	ENST00000310463;ENST00000392984	T;T	0.52057	0.68;1.53	1.69	1.69	0.24217	.	.	.	.	.	T	0.32645	0.0836	L	0.36672	1.1	0.09310	N	1	P;P	0.50710	0.712;0.938	B;B	0.38156	0.116;0.266	T	0.20405	-1.0276	9	0.87932	D	0	.	6.7551	0.23510	0.0:0.0:1.0:0.0	.	204;102	E7ESC5;Q96LY2	.;CC74B_HUMAN	L	102;204	ENSP00000308873:S102L;ENSP00000376710:S204L	ENSP00000308873:S102L	S	-	2	0	CCDC74B	130616415	0.001000	0.12720	0.005000	0.12908	0.050000	0.14768	0.492000	0.22435	0.918000	0.36919	0.454000	0.30748	TCA	CCDC74B	-	NULL		0.647	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	G	NM_207310		130899945	-1	no_errors	ENST00000392984	ensembl	human	known	70_37	missense	SNP	0.053	A
CCDC79	283847	genome.wustl.edu	37	16	66788883	66788883	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:66788883G>T	ENST00000558713.2	-	18	2252	c.2180C>A	c.(2179-2181)tCt>tAt	p.S727Y	RP11-61A14.4_ENST00000501143.1_lincRNA|CCDC79_ENST00000433154.1_Missense_Mutation_p.S727Y|CCDC79_ENST00000415744.1_3'UTR|CCDC79_ENST00000433574.1_3'UTR|CCDC79_ENST00000432602.1_Missense_Mutation_p.S680Y			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	727					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TTTCAATCAAGAAGCTGCACA	0.393																																																	0													97.0	84.0	88.0					16																	66788883		692	1591	2283	SO:0001583	missense	283847			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.2180C>A	16.37:g.66788883G>T	ENSP00000462883:p.Ser727Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW1	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.S727Y	ENST00000558713.2	37	c.2180		16	.	.	.	.	.	.	.	.	.	.	G	7.327	0.618159	0.14129	.	.	ENSG00000177461	ENST00000433154;ENST00000432602	.	.	.	4.22	2.6	0.31112	.	.	.	.	.	T	0.18383	0.0441	N	0.08118	0	0.18873	N	0.999987	B	0.33379	0.41	B	0.32465	0.146	T	0.14337	-1.0476	8	0.87932	D	0	.	6.3078	0.21149	0.2011:0.0:0.7989:0.0	.	727	Q8NA31	CCD79_HUMAN	Y	727;680	.	ENSP00000446376:S680Y	S	-	2	0	CCDC79	65346384	0.132000	0.22450	0.021000	0.16686	0.007000	0.05969	0.883000	0.28200	0.867000	0.35654	0.655000	0.94253	TCT	CCDC79	-	NULL		0.393	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	G			66788883	-1	no_errors	ENST00000433154	ensembl	human	known	70_37	missense	SNP	0.129	T
CCM2L	140706	genome.wustl.edu	37	20	30605646	30605646	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:30605646C>T	ENST00000300415.8	+	3	255	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CCM2L_ENST00000262659.8_Missense_Mutation_p.S81F			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	81																	CTGAACCCCTCCAGTCGGGAC	0.597																																																	0													149.0	145.0	147.0					20																	30605646		2203	4300	6503	SO:0001583	missense	140706			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.242C>T	20.37:g.30605646C>T	ENSP00000300415:p.Ser81Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	NULL	p.S81F	ENST00000300415.8	37	c.242		20	.	.	.	.	.	.	.	.	.	.	C	32	5.175318	0.94807	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.56275	0.47;0.47	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.79258	2.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77832	-0.2441	10	0.87932	D	0	-37.7335	16.5295	0.84354	0.0:1.0:0.0:0.0	.	81	Q9NUG4-2	.	F	81	ENSP00000300415:S81F;ENSP00000262659:S81F	ENSP00000262659:S81F	S	+	2	0	C20orf160	30069307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.933000	0.75874	2.429000	0.82318	0.462000	0.41574	TCC	CCM2L	-	NULL		0.597	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		C	NM_080625		30605646	+1	no_errors	ENST00000300415	ensembl	human	known	70_37	missense	SNP	1.000	T
CCT8	10694	genome.wustl.edu	37	21	30439221	30439221	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:30439221G>C	ENST00000286788.4	-	5	759	c.553C>G	c.(553-555)Cag>Gag	p.Q185E	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.Q112E|CCT8_ENST00000542732.1_Missense_Mutation_p.Q166E	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	185					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CCGCATGCCTGAGCAATAAGC	0.328																																																	0													92.0	88.0	90.0					21																	30439221		2203	4300	6503	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.553C>G	21.37:g.30439221G>C	ENSP00000286788:p.Gln185Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.Q185E	ENST00000286788.4	37	c.553	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	G	5.765	0.325616	0.10900	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.77489	-1.1;-1.1;-1.1	5.73	5.73	0.89815	.	0.051478	0.85682	D	0.000000	T	0.49457	0.1558	N	0.01297	-0.9	0.58432	D	0.999998	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.12837	0.008;0.003;0.002;0.002	T	0.56226	-0.8014	10	0.02654	T	1	-5.0386	16.5109	0.84284	0.0:0.1306:0.8694:0.0	.	112;166;184;185	B4DQH4;B4DEM7;G5E9B2;P50990	.;.;.;TCPQ_HUMAN	E	184;185;166;112	ENSP00000286788:Q185E;ENSP00000444984:Q166E;ENSP00000442730:Q112E	ENSP00000286788:Q185E	Q	-	1	0	CCT8	29361092	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.281000	0.58965	2.854000	0.98071	0.655000	0.94253	CAG	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta		0.328	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	G			30439221	-1	no_errors	ENST00000286788	ensembl	human	known	70_37	missense	SNP	1.000	C
CD163	9332	genome.wustl.edu	37	12	7640557	7640557	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:7640557C>T	ENST00000359156.4	-	7	1749	c.1547G>A	c.(1546-1548)tGc>tAc	p.C516Y	CD163_ENST00000432237.2_Missense_Mutation_p.C516Y|CD163_ENST00000541972.1_Missense_Mutation_p.C504Y|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.C516Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	516	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATTCCCTGCATAGAACGCT	0.532																																																	0													89.0	76.0	80.0					12																	7640557		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1547G>A	12.37:g.7640557C>T	ENSP00000352071:p.Cys516Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.C516Y	ENST00000359156.4	37	c.1547	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806609	0.50421	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.23	5.23	0.72850	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	D	0.97043	0.9034	H	0.96889	3.9	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98196	1.0465	10	0.87932	D	0	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	516;516;516	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	516;504;516;516	ENSP00000352071:C516Y;ENSP00000444071:C504Y;ENSP00000379863:C516Y;ENSP00000403885:C516Y	ENSP00000352071:C516Y	C	-	2	0	CD163	7531824	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	7.782000	0.85680	2.606000	0.88127	0.655000	0.94253	TGC	CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.532	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416		7640557	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC27	996	genome.wustl.edu	37	17	45214547	45214547	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45214547G>C	ENST00000066544.3	-	14	1977	c.1884C>G	c.(1882-1884)atC>atG	p.I628M	CDC27_ENST00000446365.2_Missense_Mutation_p.I567M|CDC27_ENST00000527547.1_Missense_Mutation_p.I627M|CDC27_ENST00000531206.1_Missense_Mutation_p.I634M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	628					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTGACTCTGATAGCATTTC	0.348																																																	0													49.0	50.0	50.0					17																	45214547		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1884C>G	17.37:g.45214547G>C	ENSP00000066544:p.Ile628Met	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I634M	ENST00000066544.3	37	c.1902	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181525	0.78677	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.81	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.78456	2.415	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.76071	0.987;0.977;0.977;0.981	T	0.81549	-0.0882	10	0.87932	D	0	-27.2344	13.6109	0.62078	0.0:0.0:0.8385:0.1615	.	567;627;634;628	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	M	628;634;567;627	ENSP00000066544:I628M;ENSP00000434614:I634M;ENSP00000392802:I567M;ENSP00000437339:I627M	ENSP00000066544:I628M	I	-	3	3	CDC27	42569546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	1.409000	0.46915	0.585000	0.79938	ATC	CDC27	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	G			45214547	-1	no_errors	ENST00000531206	ensembl	human	known	70_37	missense	SNP	1.000	C
CDC27	996	genome.wustl.edu	37	17	45219631	45219631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45219631G>A	ENST00000066544.3	-	11	1435	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q387*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q448*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q454*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	448					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCCTGAATCTGAGGTGTGATT	0.308																																																	0													31.0	31.0	31.0					17																	45219631		2202	4297	6499	SO:0001587	stop_gained	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1342C>T	17.37:g.45219631G>A	ENSP00000066544:p.Gln448*	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q454*	ENST00000066544.3	37	c.1360	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	37	5.989555	0.97179	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.58	5.58	0.84498	.	0.120686	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.1283	17.0728	0.86579	0.0:0.0:1.0:0.0	.	.	.	.	X	448;454;387;448	.	ENSP00000066544:Q448X	Q	-	1	0	CDC27	42574630	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.308000	0.72820	2.632000	0.89209	0.557000	0.71058	CAG	CDC27	-	NULL		0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	G			45219631	-1	no_errors	ENST00000531206	ensembl	human	known	70_37	nonsense	SNP	0.999	A
CDC42BPB	9578	genome.wustl.edu	37	14	103434891	103434891	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:103434891G>T	ENST00000361246.2	-	15	2446	c.2158C>A	c.(2158-2160)Cat>Aat	p.H720N		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTGAATCATGCACCTCCTTC	0.423																																																	0													123.0	122.0	123.0					14																	103434891		2203	4300	6503	SO:0001583	missense	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2158C>A	14.37:g.103434891G>T	ENSP00000355237:p.His720Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_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_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.H720N	ENST00000361246.2	37	c.2158	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446425	0.43429	.	.	ENSG00000198752	ENST00000361246	T	0.63580	-0.05	4.67	3.78	0.43462	.	0.107759	0.64402	D	0.000004	T	0.54598	0.1868	L	0.45698	1.435	0.54753	D	0.999988	B	0.12630	0.006	B	0.14023	0.01	T	0.52026	-0.8630	10	0.39692	T	0.17	.	13.3211	0.60434	0.0773:0.0:0.9227:0.0	.	720	Q9Y5S2	MRCKB_HUMAN	N	720	ENSP00000355237:H720N	ENSP00000355237:H720N	H	-	1	0	CDC42BPB	102504644	1.000000	0.71417	0.710000	0.30468	0.990000	0.78478	9.805000	0.99149	1.113000	0.41760	0.655000	0.94253	CAT	CDC42BPB	-	NULL		0.423	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	G	NM_006035		103434891	-1	no_errors	ENST00000361246	ensembl	human	known	70_37	missense	SNP	1.000	T
CDCA4	55038	genome.wustl.edu	37	14	105477866	105477866	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:105477866G>A	ENST00000336219.3	-	2	556	c.401C>T	c.(400-402)tCa>tTa	p.S134L	CDCA4_ENST00000392590.3_Missense_Mutation_p.S134L	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	134						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGCCTGTGCTGAGGTGACTGG	0.587																																																	0													87.0	74.0	79.0					14																	105477866		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.401C>T	14.37:g.105477866G>A	ENSP00000337226:p.Ser134Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.S134L	ENST00000336219.3	37	c.401	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966753	0.34659	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.47869	0.83;0.83	4.41	1.48	0.22813	.	0.813685	0.11198	N	0.589143	T	0.36608	0.0973	M	0.63843	1.955	0.09310	N	1	P	0.38922	0.651	B	0.27887	0.084	T	0.13176	-1.0519	10	0.39692	T	0.17	-15.2933	6.7698	0.23587	0.1656:0.1456:0.6888:0.0	.	134	Q9BXL8	CDCA4_HUMAN	L	134	ENSP00000337226:S134L;ENSP00000376369:S134L	ENSP00000337226:S134L	S	-	2	0	CDCA4	104548911	0.967000	0.33354	0.000000	0.03702	0.001000	0.01503	6.375000	0.73137	0.071000	0.16664	-0.142000	0.14014	TCA	CDCA4	-	NULL		0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	G	NM_145701		105477866	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	0.001	A
CDCA7L	55536	genome.wustl.edu	37	7	21945962	21945962	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:21945962G>A	ENST00000406877.3	-	6	1145	c.866C>T	c.(865-867)tCa>tTa	p.S289L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.S243L|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S255L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	289					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTAGCGGCTGAGACAGTGAA	0.498																																																	0													82.0	92.0	89.0					7																	21945962		2203	4300	6503	SO:0001583	missense	55536				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.866C>T	7.37:g.21945962G>A	ENSP00000383986:p.Ser289Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.S289L	ENST00000406877.3	37	c.866	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497396	0.85069	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.47528	0.85;0.84;0.86	5.99	5.99	0.97316	.	0.211456	0.42420	D	0.000717	T	0.69115	0.3075	M	0.63428	1.95	0.54753	D	0.999984	B;D;D	0.89917	0.156;0.999;1.0	B;D;D	0.87578	0.034;0.994;0.998	T	0.68262	-0.5455	10	0.66056	D	0.02	-4.9334	20.4777	0.99188	0.0:0.0:1.0:0.0	.	243;289;288	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	L	255;289;243	ENSP00000348523:S255L;ENSP00000383986:S289L;ENSP00000363045:S243L	ENSP00000348523:S255L	S	-	2	0	CDCA7L	21912487	1.000000	0.71417	0.363000	0.25875	0.874000	0.50279	6.778000	0.75043	2.840000	0.97914	0.655000	0.94253	TCA	CDCA7L	-	NULL		0.498	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4	G	NM_018719		21945962	-1	no_errors	ENST00000406877	ensembl	human	known	70_37	missense	SNP	0.985	A
CDH3	1001	genome.wustl.edu	37	16	68732019	68732019	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:68732019G>A	ENST00000264012.4	+	16	2824				CDH3_ENST00000429102.2_Silent_p.Q768Q|CDH3_ENST00000581171.1_Intron	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)						adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGGGCTCACAGAGAGGAAATG	0.537																																																	2	Unknown(2)	breast(2)																																								SO:0001627	intron_variant	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2281-75G>A	16.37:g.68732019G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6F4|Q05DI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q768	ENST00000264012.4	37	c.2304	CCDS10868.1	16																																																																																			CDH3	-	NULL		0.537	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	G	NM_001793		68732019	+1	no_errors	ENST00000429102	ensembl	human	known	70_37	silent	SNP	0.023	A
CDK17	5128	genome.wustl.edu	37	12	96679840	96679840	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:96679840G>C	ENST00000261211.3	-	13	1906	c.1303C>G	c.(1303-1305)Cta>Gta	p.L435V	CDK17_ENST00000543119.2_Missense_Mutation_p.L435V|CDK17_ENST00000542666.1_Missense_Mutation_p.L382V	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGGTTAATTAGAGGCTGTGGT	0.363																																																	0													165.0	184.0	178.0					12																	96679840		2203	4300	6503	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1303C>G	12.37:g.96679840G>C	ENSP00000261211:p.Leu435Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L435V	ENST00000261211.3	37	c.1303	CCDS9061.1	12	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168432	0.38315	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.46451	0.87;0.87;0.87	5.72	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146679	0.46442	D	0.000299	T	0.45637	0.1352	M	0.85542	2.76	0.42572	D	0.99318	B;B	0.14805	0.011;0.011	B;B	0.25140	0.058;0.052	T	0.52888	-0.8515	10	0.72032	D	0.01	-9.1628	5.7356	0.18065	0.2525:0.1457:0.6018:0.0	.	435;435	A8K1U6;Q00537	.;CDK17_HUMAN	V	435;435;382	ENSP00000261211:L435V;ENSP00000444459:L435V;ENSP00000442926:L382V	ENSP00000261211:L435V	L	-	1	2	CDK17	95203971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.695000	0.37763	1.435000	0.47434	0.650000	0.86243	CTA	CDK17	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.363	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	G	NM_002595		96679840	-1	no_errors	ENST00000261211	ensembl	human	known	70_37	missense	SNP	0.999	C
CELSR2	1952	genome.wustl.edu	37	1	109815025	109815025	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:109815025G>A	ENST00000271332.3	+	29	8113	c.8052G>A	c.(8050-8052)ctG>ctA	p.L2684L	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2684					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)			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)		CCTTCTTGCTGAGGTGAATCC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)												0													59.0	64.0	63.0					1																	109815025		2203	4300	6503	SO:0001819	synonymous_variant	1952			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.8052G>A	1.37:g.109815025G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	Silent	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,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.L2684	ENST00000271332.3	37	c.8052	CCDS796.1	1																																																																																			CELSR2	-	NULL		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109815025	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	A
CELSR2	1952	genome.wustl.edu	37	1	109815538	109815538	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:109815538G>A	ENST00000271332.3	+	31	8288	c.8227G>A	c.(8227-8229)Gag>Aag	p.E2743K	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2743	Poly-Glu.				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)			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)		ATCAGACAGTgaggaggaaga	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)												0													48.0	53.0	51.0					1																	109815538		2203	4300	6503	SO:0001583	missense	1952			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.8227G>A	1.37:g.109815538G>A	ENSP00000271332:p.Glu2743Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	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,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.E2743K	ENST00000271332.3	37	c.8227	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813612	0.70912	.	.	ENSG00000143126	ENST00000271332	T	0.71579	-0.58	3.31	3.31	0.37934	.	.	.	.	.	T	0.75759	0.3893	M	0.71036	2.16	0.37130	D	0.901202	D	0.57571	0.98	D	0.70227	0.968	T	0.74979	-0.3479	9	0.31617	T	0.26	.	13.8855	0.63706	0.0:0.0:1.0:0.0	.	2743	Q9HCU4	CELR2_HUMAN	K	2743	ENSP00000271332:E2743K	ENSP00000271332:E2743K	E	+	1	0	CELSR2	109617061	1.000000	0.71417	0.995000	0.50966	0.893000	0.52053	7.188000	0.77739	1.836000	0.53414	0.462000	0.41574	GAG	CELSR2	-	NULL		0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109815538	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP350	9857	genome.wustl.edu	37	1	180017795	180017795	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:180017795G>A	ENST00000367607.3	+	22	5165	c.4747G>A	c.(4747-4749)Gat>Aat	p.D1583N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1583					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCTGCAGATGATTCTCTACG	0.368																																																	0													111.0	108.0	109.0					1																	180017795		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4747G>A	1.37:g.180017795G>A	ENSP00000356579:p.Asp1583Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D1583N	ENST00000367607.3	37	c.4747	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696065	0.88830	.	.	ENSG00000135837	ENST00000367607	T	0.63417	-0.04	5.54	5.54	0.83059	.	0.000000	0.45361	D	0.000367	T	0.70369	0.3216	L	0.34521	1.04	0.49687	D	0.999819	D;D	0.69078	0.997;0.963	D;P	0.77004	0.989;0.893	T	0.67554	-0.5641	9	.	.	.	.	17.2515	0.87043	0.0:0.0:1.0:0.0	.	1583;1583	E7EU22;Q5VT06	.;CE350_HUMAN	N	1583	ENSP00000356579:D1583N	.	D	+	1	0	CEP350	178284418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.553000	0.67287	2.607000	0.88179	0.557000	0.71058	GAT	CEP350	-	NULL		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		180017795	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A
CERK	64781	genome.wustl.edu	37	22	47089360	47089360	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:47089360C>T	ENST00000216264.8	-	10	1202	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CERK_ENST00000541677.1_Missense_Mutation_p.E166K|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	364					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTTCTGCTCCTCCTCCAGC	0.483																																																	0													206.0	173.0	184.0					22																	47089360		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1090G>A	22.37:g.47089360C>T	ENSP00000216264:p.Glu364Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.E364K	ENST00000216264.8	37	c.1090	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	c	11.41	1.630904	0.28978	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.28895	2.28;1.59	5.34	4.26	0.50523	.	0.404655	0.27504	N	0.019061	T	0.26268	0.0641	L	0.52759	1.655	0.48901	D	0.999729	B	0.11235	0.004	B	0.09377	0.004	T	0.04509	-1.0946	10	0.16896	T	0.51	-8.4862	12.3464	0.55124	0.0:0.6728:0.3272:0.0	.	364	Q8TCT0	CERK1_HUMAN	K	364;166	ENSP00000216264:E364K;ENSP00000438659:E166K	ENSP00000216264:E364K	E	-	1	0	CERK	45468024	0.966000	0.33281	0.948000	0.38648	0.232000	0.25224	2.010000	0.40913	2.486000	0.83907	0.650000	0.86243	GAG	CERK	-	NULL		0.483	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	C	NM_022766		47089360	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.970	T
CFHR2	3080	genome.wustl.edu	37	1	196884084	196884084	+	Intron	SNP	A	A	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:196884084A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Splice_Site|CFHR4_ENST00000367418.2_Splice_Site|CFHR4_ENST00000251424.4_Splice_Site|CFHR4_ENST00000367416.2_Splice_Site			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ATTTTTTTTCAGATTCTTCAG	0.343																																																	0													26.0	27.0	27.0					1																	196884084		2141	4257	6398	SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34501A>C	1.37:g.196884084A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14310|Q5T9T1	Splice_Site	SNP	-	e9-2	ENST00000367421.3	37	c.1355-2		1	.	.	.	.	.	.	.	.	.	.	-	10.75	1.437371	0.25900	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.33296	D	0.564148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.045	0.30545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFHR4	195150707	0.999000	0.42202	0.064000	0.19789	0.283000	0.27025	3.836000	0.55813	1.208000	0.43306	0.166000	0.16787	.	CFHR4	-	-		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		A	NM_005666		196884084	+1	no_errors	ENST00000367416	ensembl	human	known	70_37	splice_site	SNP	0.053	C
CFHR5	81494	genome.wustl.edu	37	1	196965170	196965170	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:196965170G>A	ENST00000256785.4	+	6	918	c.809G>A	c.(808-810)gGa>gAa	p.G270E	CFHR5_ENST00000367414.5_Missense_Mutation_p.G294E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	270	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAACATGTGGATACATACCT	0.348																																																	0													120.0	116.0	117.0					1																	196965170		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.809G>A	1.37:g.196965170G>A	ENSP00000256785:p.Gly270Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G294E	ENST00000256785.4	37	c.881	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005046	0.35415	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65364	-0.15;-0.15	3.03	-0.566	0.11767	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71134	0.3304	M	0.82193	2.58	0.09310	N	1	P	0.51351	0.944	P	0.61397	0.888	T	0.58509	-0.7624	9	0.27082	T	0.32	.	3.803	0.08765	0.2825:0.2052:0.5124:0.0	.	270	Q9BXR6	FHR5_HUMAN	E	294;270	ENSP00000356384:G294E;ENSP00000256785:G270E	ENSP00000256785:G270E	G	+	2	0	CFHR5	195231793	0.038000	0.19896	0.009000	0.14445	0.035000	0.12851	0.111000	0.15458	-0.006000	0.14370	0.442000	0.29010	GGA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196965170	+1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.013	A
CHD4	1108	genome.wustl.edu	37	12	6703682	6703682	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6703682C>G	ENST00000357008.2	-	15	2419	c.2256G>C	c.(2254-2256)gaG>gaC	p.E752D	CHD4_ENST00000544040.1_Missense_Mutation_p.E745D|CHD4_ENST00000544484.1_Missense_Mutation_p.E749D|CHD4_ENST00000309577.6_Missense_Mutation_p.E752D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	752	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAGGCCCATCTCATCAGCCA	0.507																																					Colon(32;586 792 4568 16848 45314)												0													137.0	126.0	129.0					12																	6703682		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2256G>C	12.37:g.6703682C>G	ENSP00000349508:p.Glu752Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E752D	ENST00000357008.2	37	c.2256	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819146	0.71028	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.17	1.22	0.21188	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93746	0.8001	L	0.28649	0.875	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.99	D;D;D	0.87578	0.99;0.998;0.98	D	0.91707	0.5378	10	0.87932	D	0	.	8.1668	0.31230	0.0:0.4776:0.0:0.5224	.	752;752;745	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	749;745;752;752;726	ENSP00000440392:E749D;ENSP00000440542:E745D;ENSP00000312419:E752D;ENSP00000349508:E752D	ENSP00000312419:E752D	E	-	3	2	CHD4	6573943	0.961000	0.32948	1.000000	0.80357	0.998000	0.95712	0.116000	0.15561	0.333000	0.23563	0.591000	0.81541	GAG	CHD4	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6703682	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	G
CHRNE	1145	genome.wustl.edu	37	17	4805354	4805354	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:4805354C>T	ENST00000293780.4	-	5	383	c.373G>A	c.(373-375)Gac>Aac	p.D125N	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACGTTGGCGTCGTAGGCCACT	0.622																																																	0													52.0	45.0	47.0					17																	4805354		2203	4300	6503	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.373G>A	17.37:g.4805354C>T	ENSP00000293780:p.Asp125Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTK6	Missense_Mutation	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	p.D125N	ENST00000293780.4	37	c.373	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	2.624	-0.287918	0.05605	.	.	ENSG00000108556	ENST00000293780	T	0.77098	-1.07	4.68	1.37	0.22104	Neurotransmitter-gated ion-channel ligand-binding (3);	0.441437	0.26397	N	0.024603	T	0.54013	0.1832	N	0.13098	0.295	0.80722	D	1	P	0.42961	0.795	B	0.34536	0.185	T	0.50591	-0.8810	10	0.56958	D	0.05	.	7.2385	0.26084	0.3413:0.3652:0.2934:0.0	.	125	Q04844	ACHE_HUMAN	N	125	ENSP00000293780:D125N	ENSP00000293780:D125N	D	-	1	0	CHRNE	4746133	1.000000	0.71417	0.749000	0.31150	0.121000	0.20230	2.695000	0.47043	0.148000	0.19059	-0.397000	0.06425	GAC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4805354	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	1.000	T
CKAP4	10970	genome.wustl.edu	37	12	106633120	106633120	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:106633120G>T	ENST00000378026.4	-	2	1627	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	497						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACGGTGCTGGGGAGCTCGC	0.657																																																	0													52.0	50.0	51.0					12																	106633120		2203	4300	6503	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1491C>A	12.37:g.106633120G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504S5|Q53ES6	Silent	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.P497	ENST00000378026.4	37	c.1491	CCDS9103.1	12																																																																																			CKAP4	-	superfamily_STAT_TF_coiled-coil		0.657	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633120	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	silent	SNP	0.825	T
CKB	1152	genome.wustl.edu	37	14	103988711	103988711	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:103988711C>T	ENST00000348956.2	-	2	477	c.120G>A	c.(118-120)gcG>gcA	p.A40A	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	40	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CGCGCAGCTCCGCGTACAGCT	0.687																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													53.0	51.0	52.0					14																	103988711		2202	4300	6502	SO:0001819	synonymous_variant	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.120G>A	14.37:g.103988711C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.A40	ENST00000348956.2	37	c.120	CCDS9981.1	14																																																																																			CKB	-	pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N		0.687	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1	C			103988711	-1	no_errors	ENST00000348956	ensembl	human	known	70_37	silent	SNP	0.080	T
CLC	1178	genome.wustl.edu	37	19	40224976	40224976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:40224976G>A	ENST00000221804.4	-	3	325	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	84	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TGGCCATCCTGAAAGGGCATA	0.542																																																	0													189.0	154.0	166.0					19																	40224976		2203	4300	6503	SO:0001587	stop_gained	1178			L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.250C>T	19.37:g.40224976G>A	ENSP00000221804:p.Gln84*	Somatic		WXS	Illumina HiSeq	Phase_IV	C5HZ13|C5HZ14|Q0VDE3	Nonsense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.Q84*	ENST00000221804.4	37	c.250	CCDS33025.1	19	.	.	.	.	.	.	.	.	.	.	.	10.16	1.273512	0.23221	.	.	ENSG00000105205	ENST00000221804	.	.	.	1.22	-2.43	0.06522	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	2.3078	0.04178	0.429:0.3025:0.2685:0.0	.	.	.	.	X	84	.	ENSP00000221804:Q84X	Q	-	1	0	CLC	44916816	0.022000	0.18835	0.002000	0.10522	0.077000	0.17291	-0.872000	0.04219	-1.132000	0.02907	0.187000	0.17357	CAG	CLC	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.542	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLC	HGNC	protein_coding	OTTHUMT00000465225.1	G	NM_001828		40224976	-1	no_errors	ENST00000221804	ensembl	human	known	70_37	nonsense	SNP	0.013	A
CKM	1158	genome.wustl.edu	37	19	45822923	45822923	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:45822923C>G	ENST00000221476.3	-	2	223	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	17	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TACTCCTCCTCAGGCTTGTAA	0.527																																																	0													284.0	239.0	254.0					19																	45822923		2203	4300	6503	SO:0001583	missense	1158			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.49G>C	19.37:g.45822923C>G	ENSP00000221476:p.Glu17Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96QL9	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.E17Q	ENST00000221476.3	37	c.49	CCDS12659.1	19	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649648	0.47362	.	.	ENSG00000104879	ENST00000221476	T	0.63255	-0.03	4.69	3.62	0.41486	ATP:guanido phosphotransferase, N-terminal (3);	0.112777	0.64402	N	0.000017	T	0.66307	0.2776	M	0.86343	2.81	0.53005	D	0.999965	P	0.35174	0.488	B	0.35312	0.2	T	0.70135	-0.4955	10	0.52906	T	0.07	-38.4628	12.4689	0.55775	0.0:0.8223:0.1777:0.0	.	17	P06732	KCRM_HUMAN	Q	17	ENSP00000221476:E17Q	ENSP00000221476:E17Q	E	-	1	0	CKM	50514763	0.998000	0.40836	0.670000	0.29842	0.602000	0.36980	3.769000	0.55303	1.062000	0.40625	0.655000	0.94253	GAG	CKM	-	superfamily_ATP-guanido_PTrfase_N		0.527	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKM	HGNC	protein_coding	OTTHUMT00000457569.1	C			45822923	-1	no_errors	ENST00000221476	ensembl	human	known	70_37	missense	SNP	0.993	G
CLDN22	53842	genome.wustl.edu	37	4	184240795	184240795	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:184240795G>A	ENST00000323319.5	-	1	1132	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	193					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAAGCTAGGGGAGCGTGGCTG	0.547																																																	0													201.0	178.0	185.0					4																	184240795		1568	3582	5150	SO:0001583	missense	53842			AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.577C>T	4.37:g.184240795G>A	ENSP00000318113:p.Pro193Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.P193S	ENST00000323319.5	37	c.577	CCDS43286.1	4	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270659	0.23221	.	.	ENSG00000177300	ENST00000323319	D	0.85088	-1.94	6.0	2.84	0.33178	.	0.624679	0.17679	N	0.165718	T	0.78052	0.4223	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.60120	-0.7325	10	0.18276	T	0.48	.	5.3549	0.16055	0.0708:0.2276:0.4899:0.2117	.	193	Q8N7P3	CLD22_HUMAN	S	193	ENSP00000318113:P193S	ENSP00000318113:P193S	P	-	1	0	CLDN22	184477789	0.000000	0.05858	0.209000	0.23619	0.100000	0.18952	0.499000	0.22546	0.812000	0.34326	0.655000	0.94253	CCC	CLDN22	-	NULL		0.547	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN22	HGNC	protein_coding	OTTHUMT00000361493.1	G			184240795	-1	no_errors	ENST00000323319	ensembl	human	known	70_37	missense	SNP	0.000	A
CLK1	1195	genome.wustl.edu	37	2	201726555	201726555	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:201726555C>G	ENST00000321356.4	-	2	166	c.31G>C	c.(31-33)Gat>Cat	p.D11H	CLK1_ENST00000492793.1_Intron|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000434813.2_Missense_Mutation_p.D53H	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	11					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCATCCCAATCAGGACAGTAA	0.413																																																	0													132.0	120.0	124.0					2																	201726555		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.31G>C	2.37:g.201726555C>G	ENSP00000326830:p.Asp11His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D11H	ENST00000321356.4	37	c.31	CCDS2331.1	2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420678	0.62622	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.68025	-0.3;-0.26	5.27	5.27	0.74061	.	0.105878	0.64402	D	0.000007	T	0.68943	0.3056	M	0.72118	2.19	0.50632	D	0.999888	B;B	0.19331	0.035;0.028	B;B	0.19148	0.024;0.012	T	0.68194	-0.5473	10	0.72032	D	0.01	.	18.8743	0.92328	0.0:1.0:0.0:0.0	.	53;11	B4DFW7;P49759	.;CLK1_HUMAN	H	11;11;53	ENSP00000326830:D11H;ENSP00000394734:D53H	ENSP00000326830:D11H	D	-	1	0	CLK1	201434800	0.225000	0.23685	0.991000	0.47740	0.850000	0.48378	2.622000	0.46427	2.613000	0.88420	0.637000	0.83480	GAT	CLK1	-	NULL		0.413	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	C			201726555	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	missense	SNP	1.000	G
CNNM1	26507	genome.wustl.edu	37	10	101090702	101090702	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:101090702G>C	ENST00000356713.4	+	1	1847	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.E449Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.E449Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.E155Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	520	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CACGGTTCTGGAGGAGTTTAA	0.547																																																	0													51.0	53.0	52.0					10																	101090702		2203	4300	6503	SO:0001583	missense	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1558G>C	10.37:g.101090702G>C	ENSP00000349147:p.Glu520Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.E520Q	ENST00000356713.4	37	c.1558	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639814	0.47153	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.54	4.54	0.55810	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	L	0.33668	1.02	0.80722	D	1	D;D;P;P	0.76494	0.971;0.999;0.707;0.82	P;D;P;P	0.87578	0.832;0.998;0.897;0.564	D	0.96073	0.9047	10	0.62326	D	0.03	-28.919	17.4633	0.87625	0.0:0.0:1.0:0.0	.	155;520;155;520	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	Q	520;449;449;155	ENSP00000349147:E520Q;ENSP00000406492:E449Q;ENSP00000359559:E449Q;ENSP00000359565:E155Q	ENSP00000349147:E520Q	E	+	1	0	CNNM1	101080692	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.651000	0.98493	2.348000	0.79779	0.462000	0.41574	GAG	CNNM1	-	pfam_Cysta_beta_synth_core		0.547	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	G	NM_020348		101090702	+1	no_errors	ENST00000356713	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTN3	5067	genome.wustl.edu	37	3	74535633	74535633	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:74535633C>T	ENST00000263665.6	-	3	359	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGCTTCTCTGCTGACAATTGT	0.348																																																	0													133.0	129.0	130.0					3																	74535633		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.332G>A	3.37:g.74535633C>T	ENSP00000263665:p.Ser111Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S111N	ENST00000263665.6	37	c.332	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830698	0.91036	.	.	ENSG00000113805	ENST00000263665	T	0.68479	-0.33	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047654	0.85682	D	0.000000	D	0.87497	0.6192	H	0.95574	3.69	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.90603	0.4546	10	0.87932	D	0	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	111	Q9P232	CNTN3_HUMAN	N	111	ENSP00000263665:S111N	ENSP00000263665:S111N	S	-	2	0	CNTN3	74618323	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.093000	0.64517	2.763000	0.94921	0.585000	0.79938	AGC	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	C	NM_020872		74535633	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A1	1282	genome.wustl.edu	37	13	110831667	110831667	+	Silent	SNP	A	A	G	rs192750030		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:110831667A>G	ENST00000375820.4	-	30	2416	c.2295T>C	c.(2293-2295)gtT>gtC	p.V765V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	765	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTTCTCCAGGAACGCCTGGTA	0.582																																																	0													86.0	90.0	89.0					13																	110831667		2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2295T>C	13.37:g.110831667A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V765	ENST00000375820.4	37	c.2295	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen		0.582	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	A			110831667	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	silent	SNP	0.990	G
COL5A2	1290	genome.wustl.edu	37	2	189904256	189904256	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:189904256G>A	ENST00000374866.3	-	51	3941	c.3667C>T	c.(3667-3669)Ccg>Tcg	p.P1223S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1223					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGGGACCCGGAGGGCCAGGT	0.488																																																	0													23.0	25.0	24.0					2																	189904256		2203	4298	6501	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3667C>T	2.37:g.189904256G>A	ENSP00000364000:p.Pro1223Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1223S	ENST00000374866.3	37	c.3667	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590414	0.66219	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96587	-4.06	5.28	4.41	0.53225	.	0.000000	0.48286	D	0.000197	D	0.95408	0.8509	M	0.74647	2.275	0.80722	D	1	B;B	0.20052	0.002;0.041	B;B	0.24541	0.033;0.054	D	0.93441	0.6794	10	0.54805	T	0.06	.	13.7449	0.62870	0.0745:0.0:0.9255:0.0	.	863;1223	Q5PR22;P05997	.;CO5A2_HUMAN	S	1223;863	ENSP00000364000:P1223S	ENSP00000364000:P1223S	P	-	1	0	COL5A2	189612501	1.000000	0.71417	0.933000	0.37362	0.987000	0.75469	9.864000	0.99589	1.215000	0.43411	0.655000	0.94253	CCG	COL5A2	-	pfam_Collagen		0.488	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189904256	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A
COTL1	23406	genome.wustl.edu	37	16	84600379	84600379	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:84600379G>A	ENST00000262428.4	-	0	663				COTL1_ENST00000564057.1_3'UTR|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1						defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCTAGTAGCTGAGGCCGGCGG	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	23406			L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.*72C>T	16.37:g.84600379G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDU3|D3DUL9|Q86XM5	RNA	SNP	-	NULL	ENST00000262428.4	37	NULL	CCDS10947.1	16																																																																																			COTL1	-	-		0.657	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	HGNC	protein_coding	OTTHUMT00000269075.1	G	NM_021149		84600379	-1	no_errors	ENST00000567278	ensembl	human	known	70_37	rna	SNP	0.023	A
CPZ	8532	genome.wustl.edu	37	4	8607757	8607757	+	Missense_Mutation	SNP	G	G	A	rs202092274		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:8607757G>A	ENST00000360986.4	+	5	925	c.751G>A	c.(751-753)Gag>Aag	p.E251K	CPZ_ENST00000315782.6_Missense_Mutation_p.E240K|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.E114K	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	251					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCATGGCAACGAGGTGGCGGG	0.602													-|||	1	0.000199681	0.0	0.0	5008	,	,		17782	0.0		0.001	False		,,,				2504	0.0																0													124.0	103.0	110.0					4																	8607757		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.751G>A	4.37:g.8607757G>A	ENSP00000354255:p.Glu251Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.E251K	ENST00000360986.4	37	c.751	CCDS33953.1	4	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	24.1	4.497687	0.85069	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.55234	0.53;0.53;0.53	3.34	3.34	0.38264	Peptidase M14, carboxypeptidase A (2);	0.250059	0.39083	U	0.001480	T	0.80308	0.4599	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.98;0.996	D	0.87513	0.2441	10	0.87932	D	0	-18.4575	14.8331	0.70162	0.0:0.0:1.0:0.0	.	240;251	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	251;114;240	ENSP00000354255:E251K;ENSP00000371920:E114K;ENSP00000315074:E240K	ENSP00000315074:E240K	E	+	1	0	CPZ	8658657	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	8.489000	0.90461	1.713000	0.51359	0.461000	0.40582	GAG	CPZ	-	pfam_Peptidase_M14,prints_Peptidase_M14		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	G	NM_003652		8607757	+1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	A
CR1	1378	genome.wustl.edu	37	1	207697084	207697084	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207697084G>C	ENST00000367049.4	+	5	616	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.E206Q|CR1_ENST00000400960.2_Missense_Mutation_p.E206Q|CR1_ENST00000367053.1_Missense_Mutation_p.E206Q|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAGGTGTTTGAGCTTGTGGG	0.512																																																	0													23.0	20.0	21.0					1																	207697084		1772	4029	5801	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.616G>C	1.37:g.207697084G>C	ENSP00000356016:p.Glu206Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E206Q	ENST00000367049.4	37	c.616	CCDS44308.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.745|7.745	0.702174|0.702174	0.15172|0.15172	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	4.23|4.23	-1.47|-1.47	0.08772|0.08772	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|T	0.29620|0.29620	0.0739|0.0739	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P;D;P;P;P|.	0.58620|.	0.792;0.983;0.533;0.726;0.566|.	B;D;P;B;B|.	0.65443|.	0.29;0.935;0.638;0.166;0.166|.	T|T	0.28808|0.28808	-1.0032|-1.0032	9|5	0.39692|.	T|.	0.17|.	.|.	4.0755|4.0755	0.09902|0.09902	0.3179:0.344:0.3381:0.0|0.3179:0.344:0.3381:0.0	.|.	656;206;181;206;206|.	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4|.	.;.;.;CR1_HUMAN;.|.	Q|F	206|181	ENSP00000356019:E206Q;ENSP00000356020:E206Q;ENSP00000383744:E206Q;ENSP00000436139:E206Q;ENSP00000356016:E206Q|.	ENSP00000356016:E206Q|.	E|L	+|+	1|3	0|2	CR1|CR1	205763707|205763707	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.080000|0.080000	0.17528|0.17528	-1.169000|-1.169000	0.03120|0.03120	-0.325000|-0.325000	0.08577|0.08577	0.467000|0.467000	0.42956|0.42956	GAG|TTG	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.512	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	G	NM_000573		207697084	+1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.012	C
CR1L	1379	genome.wustl.edu	37	1	207871117	207871117	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:207871117G>A	ENST00000508064.2	+	7	1101	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	347	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTCCAGTGAAATCCTGTG	0.403																																																	0													249.0	227.0	234.0					1																	207871117		1851	4083	5934	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1040-1G>A	1.37:g.207871117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MC9|Q8NEU7	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V347	ENST00000508064.2	37	c.1041	CCDS44310.1	1																																																																																			CR1L	-	pfscan_Sushi_SCR_CCP		0.403	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	G	XM_114735	Silent	207871117	+1	no_errors	ENST00000508064	ensembl	human	known	70_37	silent	SNP	0.039	A
CREB3L2	64764	genome.wustl.edu	37	7	137567330	137567330	+	Missense_Mutation	SNP	C	C	T	rs368005647		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:137567330C>T	ENST00000330387.6	-	11	1666	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	439					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATGACTCCTCTGGGGGAGAA	0.582			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													39.0	41.0	40.0					7																	137567330		2203	4300	6503	SO:0001583	missense	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1315G>A	7.37:g.137567330C>T	ENSP00000329140:p.Glu439Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P454|Q6ZMR6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E439K	ENST00000330387.6	37	c.1315	CCDS34760.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.083252	0.94050	.	.	ENSG00000182158	ENST00000330387	T	0.60040	0.22	5.59	5.59	0.84812	.	0.448399	0.24063	N	0.041887	T	0.72293	0.3442	M	0.65498	2.005	0.80722	D	1	D	0.67145	0.996	P	0.62813	0.907	T	0.68484	-0.5396	10	0.30854	T	0.27	-16.5722	17.8366	0.88699	0.0:1.0:0.0:0.0	.	439	Q70SY1	CR3L2_HUMAN	K	439	ENSP00000329140:E439K	ENSP00000329140:E439K	E	-	1	0	CREB3L2	137217870	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.713000	0.61895	2.639000	0.89480	0.555000	0.69702	GAG	CREB3L2	-	NULL		0.582	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	C	NM_194071		137567330	-1	no_errors	ENST00000330387	ensembl	human	known	70_37	missense	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17279959	17279959	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:17279959G>C	ENST00000375541.5	+	21	3238	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTCCTAGCAGAGAGTGAGAA	0.652																																																	0													18.0	20.0	19.0					1																	17279959		2200	4297	6497	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3169G>C	1.37:g.17279959G>C	ENSP00000364691:p.Glu1057Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.E1057Q	ENST00000375541.5	37	c.3169	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604526	0.28623	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.20598	2.06	3.6	3.6	0.41247	.	.	.	.	.	T	0.46833	0.1413	M	0.80982	2.52	0.53688	D	0.999977	D;D;D	0.89917	0.973;1.0;1.0	P;D;D	0.87578	0.904;0.998;0.998	T	0.50759	-0.8790	9	0.48119	T	0.1	.	13.5368	0.61652	0.0:0.0:1.0:0.0	.	920;360;1057	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	Q	1057;938	ENSP00000364691:E1057Q	ENSP00000364691:E1057Q	E	+	1	0	CROCC	17152546	1.000000	0.71417	0.888000	0.34837	0.029000	0.11900	6.693000	0.74582	1.945000	0.56424	0.455000	0.32223	GAG	CROCC	-	NULL		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17279959	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	missense	SNP	0.994	C
CSE1L	1434	genome.wustl.edu	37	20	47691377	47691377	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:47691377G>C	ENST00000262982.2	+	11	1245	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	CSE1L_ENST00000542325.1_Missense_Mutation_p.L157F|CSE1L_ENST00000396192.3_Missense_Mutation_p.L318F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	374					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAGAGATTTGGAAGGATCTG	0.388																																																	0													193.0	176.0	182.0					20																	47691377		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1122G>C	20.37:g.47691377G>C	ENSP00000262982:p.Leu374Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L374F	ENST00000262982.2	37	c.1122	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363358	0.61513	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.80982	2.52	0.80722	D	1	D;D;P;D;D	0.71674	0.991;0.998;0.944;0.976;0.996	D;D;P;P;D	0.71414	0.918;0.973;0.808;0.797;0.973	T	0.76116	-0.3077	10	0.24483	T	0.36	-9.8213	9.9498	0.41631	0.1553:0.0:0.8447:0.0	.	63;157;318;318;374	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	F	374;157;318	ENSP00000262982:L374F;ENSP00000446477:L157F;ENSP00000379495:L318F	ENSP00000262982:L374F	L	+	3	2	CSE1L	47124784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.474000	0.35398	1.363000	0.46019	-0.136000	0.14681	TTG	CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47691377	+1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	C
CTDNEP1	23399	genome.wustl.edu	37	17	7147886	7147887	+	Frame_Shift_Ins	INS	-	-	TGGG	rs151138336		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7147886_7147887insTGGG	ENST00000573600.1	-	8	1078_1079	c.657_658insCCCA	c.(655-660)ccaatgfs	p.M220fs	GABARAP_ENST00000571253.1_5'Flank|GABARAP_ENST00000302386.5_5'Flank|CTDNEP1_ENST00000574322.1_Frame_Shift_Ins_p.M220fs|CTDNEP1_ENST00000318988.6_Frame_Shift_Ins_p.M220fs|GABARAP_ENST00000573928.1_5'Flank|GABARAP_ENST00000577035.1_5'Flank|GABARAP_ENST00000571129.1_5'Flank|CTD-2545G14.7_ENST00000570760.2_Frame_Shift_Ins_p.Q23fs|CTDNEP1_ENST00000572043.1_Frame_Shift_Ins_p.M87fs			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	220	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCATCCAGCATTGGGAGCAGGT	0.515																																																	0																																										SO:0001589	frameshift_variant	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.654_657dupCCCA	17.37:g.7147887_7147890dupTGGG	ENSP00000461749:p.Met220fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTN7|Q96GQ9	Frame_Shift_Ins	INS	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.M219fs	ENST00000573600.1	37	c.658_657	CCDS11093.1	17																																																																																			CTDNEP1	-	pfam_NIF,superfamily_HAD-like_dom,pfscan_NIF,tigrfam_Dullard_phosphatase		0.515	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CTDNEP1	HGNC	protein_coding	OTTHUMT00000440215.1	-	NM_015343		7147887	-1	no_errors	ENST00000318988	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.827	TGGG
CTR9	9646	genome.wustl.edu	37	11	10800612	10800612	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:10800612C>T	ENST00000361367.2	+	25	3908	c.3482C>T	c.(3481-3483)tCa>tTa	p.S1161L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1161	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATGAGGCCTCAGATAGAGGC	0.433																																																	0													86.0	94.0	91.0					11																	10800612		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3482C>T	11.37:g.10800612C>T	ENSP00000355013:p.Ser1161Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1161L	ENST00000361367.2	37	c.3482	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555859	0.65425	.	.	ENSG00000198730	ENST00000361367	T	0.47528	0.84	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000004	T	0.55033	0.1895	N	0.24115	0.695	0.53688	D	0.999974	D	0.54601	0.967	P	0.60789	0.879	T	0.56111	-0.8033	10	0.52906	T	0.07	-10.0205	19.7923	0.96464	0.0:1.0:0.0:0.0	.	1161	Q6PD62	CTR9_HUMAN	L	1161	ENSP00000355013:S1161L	ENSP00000355013:S1161L	S	+	2	0	CTR9	10757188	0.997000	0.39634	0.987000	0.45799	0.750000	0.42670	3.993000	0.56987	2.693000	0.91896	0.655000	0.94253	TCA	CTR9	-	NULL		0.433	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633		10800612	+1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	0.999	T
CYP4A22	284541	genome.wustl.edu	37	1	47610594	47610594	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:47610594G>C	ENST00000371891.3	+	9	1205	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E392Q|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E294Q	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	392						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATTGGAAGAGAGCTCAGCAC	0.572																																					Pancreas(88;1240 1470 2099 14214 37557)												0													127.0	105.0	113.0					1																	47610594		2203	4300	6503	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1174G>C	1.37:g.47610594G>C	ENSP00000360958:p.Glu392Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.E392Q	ENST00000371891.3	37	c.1174	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	3.930	-0.016388	0.07681	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.70045	-0.45;-0.45;-0.45	1.51	-1.02	0.10135	.	0.594451	0.19071	N	0.123520	T	0.48874	0.1524	L	0.42686	1.345	0.09310	N	1	B;B	0.21520	0.025;0.057	B;B	0.31290	0.127;0.103	T	0.31530	-0.9940	10	0.17369	T	0.5	.	1.0528	0.01583	0.2379:0.1699:0.4198:0.1724	.	294;392	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	Q	294;392;392	ENSP00000360957:E294Q;ENSP00000360958:E392Q;ENSP00000294337:E392Q	ENSP00000294337:E392Q	E	+	1	0	CYP4A22	47383181	0.000000	0.05858	0.104000	0.21259	0.415000	0.31203	-0.599000	0.05700	-0.508000	0.06540	0.194000	0.17425	GAG	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.572	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47610594	+1	no_errors	ENST00000371891	ensembl	human	known	70_37	missense	SNP	0.049	C
CYP8B1	1582	genome.wustl.edu	37	3	42917302	42917302	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:42917302G>A	ENST00000316161.4	-	1	331	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L3F|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	3					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGACCCCAGAGAACCATGGCT	0.597																																																	0													30.0	31.0	30.0					3																	42917302		2193	4284	6477	SO:0001583	missense	1582			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.7C>T	3.37:g.42917302G>A	ENSP00000318867:p.Leu3Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L3F	ENST00000316161.4	37	c.7	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	G	5.016	0.188717	0.09547	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.76316	-0.54;-1.01	4.89	0.915	0.19366	.	0.654660	0.14782	N	0.298722	T	0.50360	0.1611	N	0.08118	0	0.09310	N	0.999994	B;B	0.14012	0.009;0.005	B;B	0.14578	0.011;0.007	T	0.31833	-0.9929	10	0.10377	T	0.69	-11.9746	5.0069	0.14293	0.3149:0.0:0.5432:0.1418	.	3;3	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	F	3	ENSP00000404499:L3F;ENSP00000318867:L3F	ENSP00000318867:L3F	L	-	1	0	CYP8B1	42892306	0.022000	0.18835	0.987000	0.45799	0.291000	0.27294	0.186000	0.16978	0.253000	0.21552	0.561000	0.74099	CTC	CYP8B1	-	NULL		0.597	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	G	NM_004391		42917302	-1	no_errors	ENST00000316161	ensembl	human	known	70_37	missense	SNP	0.097	A
DAPK3	1613	genome.wustl.edu	37	19	3959554	3959554	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:3959554C>T	ENST00000545797.2	-	9	1153	c.910G>A	c.(910-912)Gag>Aag	p.E304K	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.E304K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	304					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTGTACTCCTTCAGACGC	0.672																																																	0													24.0	17.0	19.0					19																	3959554		2069	4080	6149	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.910G>A	19.37:g.3959554C>T	ENSP00000442973:p.Glu304Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E304K	ENST00000545797.2	37	c.910	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.566894	0.96540	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.39787	1.06;1.06	4.91	4.91	0.64330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.61218	1.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	T	0.52924	-0.8510	10	0.11485	T	0.65	.	16.6627	0.85245	0.0:1.0:0.0:0.0	.	304	O43293	DAPK3_HUMAN	K	304;304;159	ENSP00000301264:E304K;ENSP00000442973:E304K	ENSP00000301264:E304K	E	-	1	0	DAPK3	3910554	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.632000	0.67819	2.279000	0.76181	0.561000	0.74099	GAG	DAPK3	-	superfamily_Kinase-like_dom		0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	C	NM_001348		3959554	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	T
DCAF8L2	347442	genome.wustl.edu	37	X	27765662	27765662	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:27765662G>A	ENST00000451261.2	+	5	1049	c.650G>A	c.(649-651)cGt>cAt	p.R217H		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	217										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTTGTGCAGCGTTTCCGCCTG	0.577																																																	0													65.0	54.0	57.0					X																	27765662		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.650G>A	X.37:g.27765662G>A	ENSP00000462745:p.Arg217His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R217H	ENST00000451261.2	37	c.650	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.577	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	G	XM_293354		27765662	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.992	A
DDO	8528	genome.wustl.edu	37	6	110714285	110714285	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:110714285C>A	ENST00000368924.3	-	5	818	c.803G>T	c.(802-804)gGg>gTg	p.G268V	DDO_ENST00000368923.3_Missense_Mutation_p.G209V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	240					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		ATTCCAGTCCCCTTTTTGCCT	0.532																																																	0													130.0	140.0	136.0					6																	110714285		2203	4300	6503	SO:0001583	missense	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.803G>T	6.37:g.110714285C>A	ENSP00000357920:p.Gly268Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.G268V	ENST00000368924.3	37	c.803	CCDS5082.1	6	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303344	0.60195	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	3.83	0.44106	.	0.327689	0.32301	N	0.006282	D	0.88782	0.6530	M	0.94063	3.49	0.54753	D	0.999989	D;D	0.69078	0.997;0.967	P;P	0.62089	0.898;0.732	D	0.89700	0.3904	10	0.87932	D	0	-14.83	6.622	0.22808	0.0:0.6154:0.0:0.3846	.	209;268	Q99489-4;Q99489-3	.;.	V	268;209;240	ENSP00000357920:G268V;ENSP00000357919:G209V;ENSP00000357921:G240V	ENSP00000357919:G209V	G	-	2	0	DDO	110820978	0.993000	0.37304	0.958000	0.39756	0.969000	0.65631	1.670000	0.37502	1.479000	0.48272	0.563000	0.77884	GGG	DDO	-	pfam_FAD-dep_OxRdtase		0.532	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	C			110714285	-1	no_errors	ENST00000368924	ensembl	human	known	70_37	missense	SNP	0.923	A
DDR2	4921	genome.wustl.edu	37	1	162745581	162745581	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:162745581C>A	ENST00000367922.3	+	16	2434	c.1996C>A	c.(1996-1998)Ctt>Att	p.L666I	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.L666I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CAATCAGTTTCTTTCCCGCCA	0.478																																					NSCLC(161;314 2006 8283 19651 23192)												0													135.0	131.0	132.0					1																	162745581		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1996C>A	1.37:g.162745581C>A	ENSP00000356899:p.Leu666Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L666I	ENST00000367922.3	37	c.1996	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694865	0.88830	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.90788	-2.73;-2.73	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	M	0.78916	2.43	0.36890	D	0.889820	D	0.89917	1.0	D	0.97110	1.0	D	0.94696	0.7878	9	0.59425	D	0.04	.	17.6743	0.88226	0.0:1.0:0.0:0.0	.	666	Q16832	DDR2_HUMAN	I	666	ENSP00000356899:L666I;ENSP00000356898:L666I	ENSP00000356898:L666I	L	+	1	0	DDR2	161012205	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.201000	0.51059	2.555000	0.86185	0.655000	0.94253	CTT	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162745581	+1	no_errors	ENST00000367921	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX26B	203522	genome.wustl.edu	37	X	134681106	134681106	+	Silent	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:134681106T>C	ENST00000370752.4	+	6	992	c.658T>C	c.(658-660)Tta>Cta	p.L220L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	220	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAATCAATGTTTAGAATCTCT	0.323																																																	0													140.0	141.0	141.0					X																	134681106		2203	4297	6500	SO:0001819	synonymous_variant	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.658T>C	X.37:g.134681106T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	pfscan_VWF_A	p.L220	ENST00000370752.4	37	c.658	CCDS35401.1	X																																																																																			DDX26B	-	pfscan_VWF_A		0.323	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	T	NM_182540		134681106	+1	no_errors	ENST00000370752	ensembl	human	known	70_37	silent	SNP	1.000	C
DDX41	51428	genome.wustl.edu	37	5	176943443	176943443	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176943443C>G	ENST00000507955.1	-	3	667	c.144G>C	c.(142-144)caG>caC	p.Q48H	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	48					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCAGCAGCTTCTGGAGCTGAG	0.627																																																	0													56.0	51.0	52.0					5																	176943443		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.144G>C	5.37:g.176943443C>G	ENSP00000422753:p.Gln48His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q48H	ENST00000507955.1	37	c.144	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317103	0.40996	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28454	1.61;1.63	5.31	4.44	0.53790	.	0.288007	0.33854	N	0.004486	T	0.25044	0.0608	L	0.43152	1.355	0.50813	D	0.999897	B	0.27068	0.167	B	0.26614	0.071	T	0.04165	-1.0972	10	0.22109	T	0.4	-22.8126	11.1868	0.48662	0.0:0.8514:0.0:0.1486	.	48	Q9UJV9	DDX41_HUMAN	H	66;48	ENSP00000330349:Q66H;ENSP00000422753:Q48H	ENSP00000330349:Q66H	Q	-	3	2	DDX41	176876049	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.026000	0.30103	1.238000	0.43771	0.549000	0.68633	CAG	DDX41	-	NULL		0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176943443	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	G
DDX50	79009	genome.wustl.edu	37	10	70706374	70706374	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:70706374G>T	ENST00000373585.3	+	15	2309	c.2202G>T	c.(2200-2202)cgG>cgT	p.R734R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	734						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCCACAAACGGAGTTTTGACT	0.428																																																	0													80.0	82.0	81.0					10																	70706374		2203	4300	6503	SO:0001819	synonymous_variant	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2202G>T	10.37:g.70706374G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R734	ENST00000373585.3	37	c.2202	CCDS7283.1	10																																																																																			DDX50	-	NULL		0.428	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	G	NM_024045		70706374	+1	no_errors	ENST00000373585	ensembl	human	known	70_37	silent	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31613205	31613205	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:31613205C>G	ENST00000389082.5	-	4	1279	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000536562.1_Missense_Mutation_p.D374H|DENND5B_ENST00000306833.6_Missense_Mutation_p.D374H|DENND5B_ENST00000354285.4_Missense_Mutation_p.D361H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	339	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGGAGCATCAAGAAAATGT	0.428																																																	0													92.0	87.0	88.0					12																	31613205		1953	4153	6106	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1015G>C	12.37:g.31613205C>G	ENSP00000373734:p.Asp339His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D374H	ENST00000389082.5	37	c.1120	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565819	0.86439	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.59	4.59	0.56863	DENN (3);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D	0.89917	0.982;1.0;0.999;0.97;0.996	D;D;D;D;D	0.87578	0.911;0.998;0.966;0.916;0.96	T	0.00872	-1.1532	10	0.48119	T	0.1	-15.8017	17.9279	0.88989	0.0:1.0:0.0:0.0	.	374;261;361;339;374	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	H	339;374;374;361;291	ENSP00000373734:D339H;ENSP00000306482:D374H;ENSP00000444889:D374H;ENSP00000346238:D361H;ENSP00000442938:D291H	ENSP00000306482:D374H	D	-	1	0	DENND5B	31504472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.534000	0.85438	0.655000	0.94253	GAT	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.428	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31613205	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	G
DGCR6	8214	genome.wustl.edu	37	22	18894274	18894274	+	Intron	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:18894274C>G	ENST00000331444.6	+	2	423				DGCR6_ENST00000413981.1_Intron|DGCR6_ENST00000608842.1_Missense_Mutation_p.R103G	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GCCGCCTCCTCGGGGTCGGCG	0.627																																																	0													16.0	15.0	15.0					22																	18894274		2196	4296	6492	SO:0001627	intron_variant	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.271+36C>G	22.37:g.18894274C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	pfam_DGCR6	p.R103G	ENST00000331444.6	37	c.307	CCDS13753.1	22																																																																																			DGCR6	-	NULL		0.627	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	C	NM_005675		18894274	+1	no_errors	ENST00000480608	ensembl	human	known	70_37	missense	SNP	0.000	G
DHX9	1660	genome.wustl.edu	37	1	182845989	182845989	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:182845989G>A	ENST00000367549.3	+	19	2259	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	717	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAATATTGCTGAAACAAGCAT	0.333																																					Colon(69;210 1162 3697 13559 39565)												0													71.0	63.0	65.0					1																	182845989		1821	4078	5899	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2149G>A	1.37:g.182845989G>A	ENSP00000356520:p.Glu717Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.E717K	ENST00000367549.3	37	c.2149	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.750042	0.96890	.	.	ENSG00000135829	ENST00000367549	T	0.78246	-1.16	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95323	0.8422	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	717	Q08211	DHX9_HUMAN	K	717	ENSP00000356520:E717K	ENSP00000356520:E717K	E	+	1	0	DHX9	181112612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.334000	0.79224	2.804000	0.96469	0.650000	0.86243	GAA	DHX9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	G	NM_030588		182845989	+1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	95990784	95990784	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:95990784G>A	ENST00000324765.8	+	2	507	c.160G>A	c.(160-162)Gat>Aat	p.D54N	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Missense_Mutation_p.D54N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.D54N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D54N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	54					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTGGCAGATGATGTGGTAAG	0.284																																																	0													214.0	194.0	201.0					X																	95990784		2202	4297	6499	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.160G>A	X.37:g.95990784G>A	ENSP00000321348:p.Asp54Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.D54N	ENST00000324765.8	37	c.160	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028806	0.93518	.	.	ENSG00000147202	ENST00000373061;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D	0.85258	-1.95;-1.91;-1.91;-1.96	5.78	5.78	0.91487	.	0.409453	0.23539	N	0.047082	D	0.89918	0.6854	L	0.39898	1.24	0.44380	D	0.997285	D;D;P	0.89917	1.0;0.992;0.884	D;P;P	0.87578	0.998;0.856;0.516	D	0.90759	0.4663	10	0.87932	D	0	.	18.5822	0.91176	0.0:0.0:1.0:0.0	.	54;54;54	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	N	54	ENSP00000362152:D54N;ENSP00000348082:D54N;ENSP00000362140:D54N;ENSP00000321348:D54N	ENSP00000321348:D54N	D	+	1	0	DIAPH2	95877440	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.408000	0.90221	2.431000	0.82371	0.594000	0.82650	GAT	DIAPH2	-	NULL		0.284	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	G	NM_006729, NM_007309		95990784	+1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96197126	96197126	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:96197126C>T	ENST00000324765.8	+	13	1782	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	DIAPH2_ENST00000373054.4_Missense_Mutation_p.H475Y|DIAPH2_ENST00000373061.3_Missense_Mutation_p.H479Y|DIAPH2_ENST00000355827.4_Missense_Mutation_p.H479Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.H479Y			O60879	DIAP2_HUMAN	diaphanous-related formin 2	479					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGATTTAACTCATCTGATAGG	0.348																																																	0													134.0	123.0	127.0					X																	96197126		2203	4300	6503	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1435C>T	X.37:g.96197126C>T	ENSP00000321348:p.His479Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.H479Y	ENST00000324765.8	37	c.1435	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792621	0.31685	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.64	5.64	0.86602	Diaphanous FH3 (1);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	L	0.60455	1.87	0.52501	D	0.999954	D;D	0.69078	0.971;0.997	P;D	0.75484	0.865;0.986	T	0.83107	-0.0125	10	0.02654	T	1	.	18.3629	0.90380	0.0:1.0:0.0:0.0	.	479;479	O60879;O60879-2	DIAP2_HUMAN;.	Y	479;475;479;479;479;486	ENSP00000362152:H479Y;ENSP00000362145:H475Y;ENSP00000348082:H479Y;ENSP00000362140:H479Y;ENSP00000321348:H479Y	ENSP00000321348:H479Y	H	+	1	0	DIAPH2	96083782	1.000000	0.71417	0.981000	0.43875	0.003000	0.03518	7.309000	0.78937	2.377000	0.81083	0.594000	0.82650	CAT	DIAPH2	-	pfam_Drf_FH3		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96197126	+1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T
DMGDH	29958	genome.wustl.edu	37	5	78351647	78351647	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:78351647C>T	ENST00000255189.3	-	3	389	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	121					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTCTTCTTCCAGTTTC	0.358																																																	0													94.0	97.0	96.0					5																	78351647		2202	4298	6500	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.361G>A	5.37:g.78351647C>T	ENSP00000255189:p.Glu121Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.E121K	ENST00000255189.3	37	c.361	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608825	0.66558	.	.	ENSG00000132837	ENST00000255189	D	0.82255	-1.59	6.16	6.16	0.99307	FAD dependent oxidoreductase (1);	0.047823	0.85682	D	0.000000	T	0.77831	0.4189	N	0.25992	0.78	0.80722	D	1	B	0.19445	0.036	B	0.24006	0.05	T	0.69105	-0.5233	10	0.33940	T	0.23	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	121	Q9UI17	M2GD_HUMAN	K	121	ENSP00000255189:E121K	ENSP00000255189:E121K	E	-	1	0	DMGDH	78387403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.871000	0.63042	2.937000	0.99478	0.650000	0.86243	GAA	DMGDH	-	pfam_FAD-dep_OxRdtase		0.358	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	C	NM_013391		78351647	-1	no_errors	ENST00000255189	ensembl	human	known	70_37	missense	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51778394	51778394	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:51778394G>A	ENST00000251076.5	-	23	5645	c.5358C>T	c.(5356-5358)ttC>ttT	p.F1786F	DMXL2_ENST00000449909.3_Silent_p.F1150F|DMXL2_ENST00000543779.2_Silent_p.F1786F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1786						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTTGCAACTGAATCCTGAGC	0.398																																																	0													112.0	108.0	109.0					15																	51778394		2196	4293	6489	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5358C>T	15.37:g.51778394G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1786	ENST00000251076.5	37	c.5358	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51778394	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	silent	SNP	0.959	A
DNA2	1763	genome.wustl.edu	37	10	70204733	70204733	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:70204733C>T	ENST00000358410.3	-	8	1215	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	DNA2_ENST00000399180.2_Missense_Mutation_p.E475K|DNA2_ENST00000399179.2_Missense_Mutation_p.E389K	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	389	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GTTTTCTCTTCCTCAATTATT	0.353																																																	0													104.0	99.0	101.0					10																	70204733		1825	4093	5918	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1165G>A	10.37:g.70204733C>T	ENSP00000351185:p.Glu389Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.E475K	ENST00000358410.3	37	c.1423		10	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315644	0.40996	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93604	-2.76;-3.25;-2.74	5.2	5.2	0.72013	.	0.464626	0.23977	N	0.042708	D	0.89255	0.6663	L	0.36672	1.1	0.37538	D	0.918182	P;B	0.35272	0.493;0.224	B;B	0.30495	0.116;0.034	D	0.88832	0.3306	10	0.23891	T	0.37	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	389;389	F8VR31;P51530	.;DNA2L_HUMAN	K	389;475;389;389	ENSP00000382133:E475K;ENSP00000382132:E389K;ENSP00000351185:E389K	ENSP00000351185:E389K	E	-	1	0	DNA2	69874739	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.481000	0.60250	2.410000	0.81850	0.650000	0.86243	GAA	DNA2	-	NULL		0.353	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	C			70204733	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAAF2	55172	genome.wustl.edu	37	14	50101845	50101845	+	Missense_Mutation	SNP	G	G	A	rs137853191		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:50101845G>A	ENST00000298292.8	-	1	103	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S8L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	8					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						CTCCAGCGACGAGGAGGCCGC	0.647																																																	0			GRCh37	CM086380	DNAAF2	M	rs137853191						3.0	4.0	4.0					14																	50101845		1828	3905	5733	SO:0001583	missense	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.23C>T	14.37:g.50101845G>A	ENSP00000298292:p.Ser8Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	pfam_PIH	p.S8L	ENST00000298292.8	37	c.23	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171223	0.78452	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.20069	2.1;2.37	5.28	5.28	0.74379	.	.	.	.	.	T	0.38081	0.1027	L	0.44542	1.39	0.30498	N	0.770698	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.24941	-1.0146	9	0.72032	D	0.01	.	12.5187	0.56046	0.0:0.1813:0.8187:0.0	.	8;8	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	L	8	ENSP00000298292:S8L;ENSP00000384862:S8L	ENSP00000298292:S8L	S	-	2	0	DNAAF2	49171595	1.000000	0.71417	0.601000	0.28877	0.673000	0.39480	5.778000	0.68940	2.490000	0.84030	0.306000	0.20318	TCG	DNAAF2	-	NULL		0.647	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50101845	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	missense	SNP	0.891	A
DNAAF3	352909	genome.wustl.edu	37	19	55677347	55677347	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55677347G>A	ENST00000524407.2	-	3	140	c.107C>T	c.(106-108)tCc>tTc	p.S36F	DNAAF3_ENST00000455045.1_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S83F|DNAAF3_ENST00000527223.2_Missense_Mutation_p.S104F|snoU13_ENST00000459370.1_RNA|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	36					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											ATCGGCCTGGGAGTCTGGGTC	0.602											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													48.0	57.0	54.0					19																	55677347		2080	4221	6301	SO:0001583	missense	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.107C>T	19.37:g.55677347G>A	ENSP00000432046:p.Ser36Phe	Somatic	1009	WXS	Illumina HiSeq	Phase_IV	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	NULL	p.S104F	ENST00000524407.2	37	c.311	CCDS59422.1	19	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445931	0.43429	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.19669	2.13	3.89	-1.15	0.09709	.	1.297460	0.05419	N	0.543914	T	0.25269	0.0614	L	0.48642	1.525	0.09310	N	0.999999	P;B;P	0.51351	0.944;0.009;0.662	P;B;B	0.51135	0.66;0.005;0.246	T	0.20907	-1.0261	10	0.59425	D	0.04	-0.4859	3.5332	0.07785	0.3213:0.0:0.5054:0.1733	.	104;57;36	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	F	104;83;104	ENSP00000375600:S83F	ENSP00000301249:S104F	S	-	2	0	C19orf51	60369159	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.231000	0.17872	-0.198000	0.10333	0.561000	0.74099	TCC	DNAAF3	-	NULL		0.602	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	G	NM_178837		55677347	-1	no_errors	ENST00000527223	ensembl	human	known	70_37	missense	SNP	0.000	A
DNAH1	25981	genome.wustl.edu	37	3	52412643	52412643	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:52412643C>T	ENST00000420323.2	+	47	7485	c.7224C>T	c.(7222-7224)ttC>ttT	p.F2408F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2408	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGCCCACTTCACGGAGCCCC	0.617																																																	0													98.0	109.0	105.0					3																	52412643		2008	4170	6178	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7224C>T	3.37:g.52412643C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.F2408	ENST00000420323.2	37	c.7224	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52412643	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.004	T
DNAH11	8701	genome.wustl.edu	37	7	21805130	21805130	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:21805130G>T	ENST00000409508.3	+	55	9056	c.9025G>T	c.(9025-9027)Gac>Tac	p.D3009Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.D3016Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3016	AAA 4. {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						CACGGCTATTGACTGGTTTCA	0.537									Kartagener syndrome																																								0													115.0	115.0	115.0					7																	21805130		2047	4189	6236	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9025G>T	7.37:g.21805130G>T	ENSP00000475939:p.Asp3009Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3016Y	ENST00000409508.3	37	c.9046		7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890068	0.91889	.	.	ENSG00000105877	ENST00000328843	T	0.39229	1.09	5.76	5.76	0.90799	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71866	-0.4463	9	0.87932	D	0	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	3016	Q96DT5	DYH11_HUMAN	Y	3016	ENSP00000330671:D3016Y	ENSP00000330671:D3016Y	D	+	1	0	DNAH11	21771655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.399000	0.97285	2.719000	0.93026	0.555000	0.69702	GAC	DNAH11	-	NULL		0.537	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21805130	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11666898	11666898	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:11666898C>T	ENST00000262442.4	+	36	7205	c.7137C>T	c.(7135-7137)atC>atT	p.I2379I	DNAH9_ENST00000454412.2_Silent_p.I2379I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2379					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGCTGCCATCTGGGCTTTCG	0.473																																																	0													80.0	73.0	76.0					17																	11666898		2203	4300	6503	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7137C>T	17.37:g.11666898C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I2379	ENST00000262442.4	37	c.7137	CCDS11160.1	17																																																																																			DNAH9	-	NULL		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11666898	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAJC15	29103	genome.wustl.edu	37	13	43597830	43597830	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:43597830C>T	ENST00000379221.2	+	1	492	c.68C>T	c.(67-69)tCg>tTg	p.S23L	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	23					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTGCAGCCCTCGGCCAAACGG	0.662																																																	0													27.0	27.0	27.0					13																	43597830		2203	4299	6502	SO:0001583	missense	29103			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.68C>T	13.37:g.43597830C>T	ENSP00000368523:p.Ser23Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.S23L	ENST00000379221.2	37	c.68	CCDS9388.1	13	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978215	0.34942	.	.	ENSG00000120675	ENST00000379221	T	0.44482	0.92	4.53	3.67	0.42095	.	1.126430	0.06762	N	0.782033	T	0.37839	0.1018	L	0.50333	1.59	0.09310	N	1	B	0.28880	0.226	B	0.17098	0.017	T	0.24870	-1.0148	10	0.40728	T	0.16	-13.8258	9.6692	0.40002	0.2078:0.7921:0.0:0.0	.	23	Q9Y5T4	DJC15_HUMAN	L	23	ENSP00000368523:S23L	ENSP00000368523:S23L	S	+	2	0	DNAJC15	42495830	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.033000	0.30191	1.100000	0.41517	0.655000	0.94253	TCG	DNAJC15	-	NULL		0.662	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	HGNC	protein_coding	OTTHUMT00000044709.2	C	NM_013238		43597830	+1	no_errors	ENST00000379221	ensembl	human	known	70_37	missense	SNP	0.002	T
DNAL1	83544	genome.wustl.edu	37	14	74156098	74156098	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:74156098G>A	ENST00000553645.2	+	7	453	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	DNAL1_ENST00000311089.3_Missense_Mutation_p.E25K|DNAL1_ENST00000554339.1_Missense_Mutation_p.E51K|DNAL1_ENST00000554871.1_Missense_Mutation_p.E99K|DNAL1_ENST00000540526.1_Missense_Mutation_p.E99K	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	138										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAAGCTGGCAGAACTGCCATG	0.458																																																	0													57.0	53.0	54.0					14																	74156098		1849	4021	5870	SO:0001583	missense	83544			BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.412G>A	14.37:g.74156098G>A	ENSP00000452037:p.Glu138Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	NULL	p.E138K	ENST00000553645.2	37	c.412	CCDS45134.1	14	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362376	0.61403	.	.	ENSG00000119661	ENST00000554113;ENST00000555631;ENST00000553645;ENST00000311089;ENST00000554339;ENST00000554871;ENST00000540526	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.78	5.78	0.91487	.	0.140327	0.64402	D	0.000005	T	0.17959	0.0431	L	0.31752	0.955	0.58432	D	0.999996	B	0.14012	0.009	B	0.12837	0.008	T	0.10042	-1.0647	10	0.10902	T	0.67	-0.1755	20.0139	0.97470	0.0:0.0:1.0:0.0	.	138	Q4LDG9	DNAL1_HUMAN	K	25;25;138;25;51;99;99	ENSP00000452368:E25K;ENSP00000452037:E138K;ENSP00000310360:E25K;ENSP00000450744:E51K;ENSP00000451834:E99K;ENSP00000439695:E99K	ENSP00000310360:E138K	E	+	1	0	DNAL1	73225851	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.831000	0.86748	2.724000	0.93272	0.563000	0.77884	GAA	DNAL1	-	NULL		0.458	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAL1	HGNC	protein_coding	OTTHUMT00000414565.2	G	NM_031427		74156098	+1	no_errors	ENST00000553645	ensembl	human	known	70_37	missense	SNP	1.000	A
DNMT3A	1788	genome.wustl.edu	37	2	25469057	25469057	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:25469057G>A	ENST00000264709.3	-	11	1738	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	DNMT3A_ENST00000380746.4_Silent_p.V278V|DNMT3A_ENST00000321117.5_Silent_p.V467V|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Silent_p.V244V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	467					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATCTCCTTGACCTTGGGCT	0.602			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													143.0	141.0	142.0					2																	25469057		2203	4300	6503	SO:0001819	synonymous_variant	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1401C>T	2.37:g.25469057G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.V467	ENST00000264709.3	37	c.1401	CCDS33157.1	2																																																																																			DNMT3A	-	NULL		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25469057	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	silent	SNP	1.000	A
DNTTIP1	116092	genome.wustl.edu	37	20	44424004	44424004	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:44424004G>A	ENST00000372622.3	+	4	362	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	98						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCAGCACTGAACGTGCGAG	0.522																																																	0													55.0	40.0	45.0					20																	44424004		2203	4300	6503	SO:0001819	synonymous_variant	116092			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.294G>A	20.37:g.44424004G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	NULL	p.L98	ENST00000372622.3	37	c.294	CCDS13369.1	20																																																																																			DNTTIP1	-	NULL		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	G	NM_052951		44424004	+1	no_errors	ENST00000372622	ensembl	human	known	70_37	silent	SNP	0.946	A
DPP3	10072	genome.wustl.edu	37	11	66276797	66276797	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:66276797G>A	ENST00000360510.2	+	0	2354				DPP3_ENST00000531863.1_3'UTR|BBS1_ENST00000393994.2_5'Flank|CTD-3074O7.11_ENST00000419755.3_Intron|DPP3_ENST00000530165.1_3'UTR|BBS1_ENST00000537537.1_5'Flank|BBS1_ENST00000318312.7_5'Flank|DPP3_ENST00000453114.1_3'UTR|DPP3_ENST00000532677.1_3'UTR|BBS1_ENST00000455748.2_5'Flank|DPP3_ENST00000541961.1_3'UTR			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGTGTATTTAGGGGCTGGGGA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.*75G>A	11.37:g.66276797G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	RNA	SNP	-	NULL	ENST00000360510.2	37	NULL	CCDS8141.1	11																																																																																			DPP3	-	-		0.587	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	G			66276797	+1	no_errors	ENST00000539085	ensembl	human	putative	70_37	rna	SNP	0.000	A
DPP8	54878	genome.wustl.edu	37	15	65756239	65756239	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:65756239G>A	ENST00000341861.5	-	15	3459	c.1879C>T	c.(1879-1881)Ctt>Ttt	p.L627F	DPP8_ENST00000339244.5_Missense_Mutation_p.L454F|DPP8_ENST00000321118.7_Missense_Mutation_p.L627F|DPP8_ENST00000559233.1_Missense_Mutation_p.L627F|DPP8_ENST00000321147.6_Missense_Mutation_p.L627F|DPP8_ENST00000358939.4_Missense_Mutation_p.L611F|DPP8_ENST00000300141.6_Missense_Mutation_p.L611F	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	627					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTCAGGAAGAGGACCTGTG	0.403																																																	0													57.0	58.0	58.0					15																	65756239		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1879C>T	15.37:g.65756239G>A	ENSP00000339208:p.Leu627Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.L627F	ENST00000341861.5	37	c.1879	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668320	0.47677	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T	0.52526	0.66;0.67	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000005	T	0.58680	0.2139	L	0.47716	1.5	0.54753	D	0.999988	B;P;D;P;B	0.69078	0.083;0.473;0.997;0.473;0.342	B;B;P;B;B	0.62184	0.122;0.299;0.899;0.299;0.157	T	0.46965	-0.9153	10	0.10111	T	0.7	-0.1826	19.9326	0.97124	0.0:0.0:1.0:0.0	rs34898704	454;611;611;627;627	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	F	627;611;611;627;627;454;627	ENSP00000339208:L627F;ENSP00000300141:L611F	ENSP00000300141:L611F	L	-	1	0	DPP8	63543292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.004000	0.70709	2.720000	0.93068	0.650000	0.86243	CTT	DPP8	-	NULL		0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65756239	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	A
DPYSL3	1809	genome.wustl.edu	37	5	146775188	146775188	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:146775188G>A	ENST00000398514.3	-	13	1929	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	DPYSL3_ENST00000534907.1_Missense_Mutation_p.R146W|DPYSL3_ENST00000343218.5_Missense_Mutation_p.R634W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	520					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCCCCGAGCAGAGCCT	0.587																																																	0													35.0	38.0	37.0					5																	146775188		1934	4116	6050	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1558C>T	5.37:g.146775188G>A	ENSP00000381526:p.Arg520Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R520W	ENST00000398514.3	37	c.1558	CCDS43381.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.24|15.24	2.773739|2.773739	0.49786|0.49786	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907|ENST00000520473	D;D;T|.	0.86030|.	-2.03;-2.06;-0.88|.	5.61|5.61	4.66|4.66	0.58398|0.58398	.|.	0.234557|.	0.40818|.	N|.	0.001002|.	T|T	0.59376|0.59376	0.2189|0.2189	L|L	0.41492|0.41492	1.28|1.28	0.47621|0.47621	D|D	0.999477|0.999477	D;P|.	0.64830|.	0.994;0.587|.	P;B|.	0.57468|.	0.821;0.031|.	T|T	0.54892|0.54892	-0.8225|-0.8225	10|5	0.87932|.	D|.	0|.	-24.677|-24.677	15.3044|15.3044	0.73982|0.73982	0.0:0.0:0.7634:0.2366|0.0:0.0:0.7634:0.2366	.|.	634;520|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	W|L	520;634;146|158	ENSP00000381526:R520W;ENSP00000343690:R634W;ENSP00000441819:R146W|.	ENSP00000343690:R634W|.	R|S	-|-	1|2	2|0	DPYSL3|DPYSL3	146755381|146755381	0.117000|0.117000	0.22190|0.22190	0.999000|0.999000	0.59377|0.59377	0.212000|0.212000	0.24457|0.24457	1.290000|1.290000	0.33319|0.33319	2.632000|2.632000	0.89209|0.89209	0.591000|0.591000	0.81541|0.81541	CGG|TCG	DPYSL3	-	NULL		0.587	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	G	NM_001387		146775188	-1	no_errors	ENST00000398514	ensembl	human	known	70_37	missense	SNP	0.702	A
DST	667	genome.wustl.edu	37	6	56347645	56347645	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56347645T>C	ENST00000361203.3	-	84	20285	c.20278A>G	c.(20278-20280)Agc>Ggc	p.S6760G	DST_ENST00000446842.2_Missense_Mutation_p.S6545G|DST_ENST00000244364.6_Missense_Mutation_p.S4457G|DST_ENST00000370769.4_Missense_Mutation_p.S6871G|DST_ENST00000370754.5_Missense_Mutation_p.S7049G|DST_ENST00000370788.2_Missense_Mutation_p.S4674G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S4783G			Q03001	DYST_HUMAN	dystonin	6759					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCACACTGCTGGTCCTCTTC	0.458																																																	0													61.0	60.0	60.0					6																	56347645		1898	4119	6017	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20278A>G	6.37:g.56347645T>C	ENSP00000354508:p.Ser6760Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S7049G	ENST00000361203.3	37	c.21145		6	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644917	0.47258	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	T	0.26231	0.0640	N	0.08118	0	0.30590	N	0.761648	D;P;B;D;B	0.65815	0.995;0.516;0.33;0.993;0.008	D;B;B;P;B	0.80764	0.994;0.267;0.12;0.869;0.02	T	0.24835	-1.0149	9	0.18276	T	0.48	.	16.1657	0.81754	0.0:0.0:0.0:1.0	.	4783;6871;7049;6869;4457	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	4457;7049;6871;4783;6545;4674;6760	ENSP00000244364:S4457G;ENSP00000359790:S7049G;ENSP00000359805:S6871G;ENSP00000400883:S4783G;ENSP00000393645:S6545G;ENSP00000359824:S4674G;ENSP00000354508:S6760G	ENSP00000244364:S4457G	S	-	1	0	DST	56455604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.606000	0.61126	2.276000	0.75962	0.528000	0.53228	AGC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	T	NM_001723		56347645	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56392496	56392496	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56392496G>A	ENST00000361203.3	-	63	16764	c.16757C>T	c.(16756-16758)gCc>gTc	p.A5586V	DST_ENST00000446842.2_Missense_Mutation_p.A5371V|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.A3283V|DST_ENST00000370769.4_Missense_Mutation_p.A5697V|DST_ENST00000370754.5_Missense_Mutation_p.A5875V|DST_ENST00000370788.2_Missense_Mutation_p.A3500V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A3609V			Q03001	DYST_HUMAN	dystonin	5586					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTTTAATGGCTTCCAATTT	0.413																																																	0													94.0	91.0	92.0					6																	56392496		1910	4137	6047	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16757C>T	6.37:g.56392496G>A	ENSP00000354508:p.Ala5586Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.A5875V	ENST00000361203.3	37	c.17624		6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506611	0.64410	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	1.26;1.28;1.28;1.26;1.26;0.69;1.26	5.62	2.77	0.32553	.	0.126145	0.34725	N	0.003734	T	0.30916	0.0780	L	0.51422	1.61	0.27815	N	0.942017	P;P;P;B;B	0.49783	0.872;0.928;0.928;0.001;0.049	B;P;P;B;B	0.53185	0.429;0.72;0.72;0.002;0.037	T	0.13282	-1.0515	9	0.27785	T	0.31	.	4.2387	0.10638	0.0924:0.3312:0.4591:0.1173	.	3609;5697;5875;5695;3283	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3283;5875;5697;3609;5371;3500;5586	ENSP00000244364:A3283V;ENSP00000359790:A5875V;ENSP00000359805:A5697V;ENSP00000400883:A3609V;ENSP00000393645:A5371V;ENSP00000359824:A3500V;ENSP00000354508:A5586V	ENSP00000244364:A3283V	A	-	2	0	DST	56500455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.686000	0.61700	1.357000	0.45904	0.655000	0.94253	GCC	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56392496	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56463367	56463367	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:56463367C>G	ENST00000361203.3	-	42	11209	c.11202G>C	c.(11200-11202)aaG>aaC	p.K3734N	DST_ENST00000446842.2_Missense_Mutation_p.K3410N|DST_ENST00000244364.6_Missense_Mutation_p.K1322N|DST_ENST00000370769.4_Missense_Mutation_p.K3736N|DST_ENST00000370754.5_Missense_Mutation_p.K3914N|DST_ENST00000370788.2_Missense_Mutation_p.K1648N|DST_ENST00000312431.6_Missense_Mutation_p.K3734N|DST_ENST00000421834.2_Missense_Mutation_p.K1648N			Q03001	DYST_HUMAN	dystonin	3734					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACTTTATCTTAGCTTCAT	0.353																																																	0													167.0	152.0	157.0					6																	56463367		1841	4084	5925	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11202G>C	6.37:g.56463367C>G	ENSP00000354508:p.Lys3734Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K3914N	ENST00000361203.3	37	c.11742		6	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579103	0.28180	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.9	1.77	0.24775	.	0.110845	0.39615	N	0.001317	T	0.42404	0.1201	L	0.53780	1.695	0.28083	N	0.932106	D;B;P;B;P	0.76494	0.999;0.108;0.897;0.016;0.927	D;B;B;B;P	0.78314	0.991;0.109;0.348;0.008;0.654	T	0.32481	-0.9905	9	0.37606	T	0.19	.	5.5759	0.17222	0.1293:0.5768:0.0:0.2939	.	1648;3736;3914;3734;1322	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	1322;3914;3736;1648;3410;3734;1648;3734	ENSP00000244364:K1322N;ENSP00000359790:K3914N;ENSP00000359805:K3736N;ENSP00000400883:K1648N;ENSP00000393645:K3410N;ENSP00000307959:K3734N;ENSP00000359824:K1648N;ENSP00000354508:K3734N	ENSP00000244364:K1322N	K	-	3	2	DST	56571326	0.995000	0.38212	0.654000	0.29608	0.986000	0.74619	1.331000	0.33793	0.763000	0.33175	0.650000	0.86243	AAG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56463367	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.621	G
DVL2	1856	genome.wustl.edu	37	17	7132958	7132958	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7132958G>A	ENST00000005340.5	-	6	978	c.696C>T	c.(694-696)ctC>ctT	p.L232L	DVL2_ENST00000575458.1_Silent_p.L226L|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	232					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGCGCTTAAGGAGGCGGGAGG	0.632																																																	0													55.0	63.0	60.0					17																	7132958		2203	4300	6503	SO:0001819	synonymous_variant	1856			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.696C>T	17.37:g.7132958G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.L232	ENST00000005340.5	37	c.696	CCDS11091.1	17																																																																																			DVL2	-	pfam_Dishevelled_protein_dom		0.632	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	G	NM_004422		7132958	-1	no_errors	ENST00000005340	ensembl	human	known	70_37	silent	SNP	1.000	A
DVL2	1856	genome.wustl.edu	37	17	7133189	7133189	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7133189G>T	ENST00000005340.5	-	5	876	c.594C>A	c.(592-594)ctC>ctA	p.L198L	DVL2_ENST00000575458.1_Silent_p.L192L|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	198					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGCTGGTCATGAGGGTAGAGG	0.647																																																	0													70.0	73.0	72.0					17																	7133189		2203	4300	6503	SO:0001819	synonymous_variant	1856			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.594C>A	17.37:g.7133189G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.L198	ENST00000005340.5	37	c.594	CCDS11091.1	17																																																																																			DVL2	-	pfam_Dishevelled_protein_dom		0.647	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	G	NM_004422		7133189	-1	no_errors	ENST00000005340	ensembl	human	known	70_37	silent	SNP	0.946	T
DYNC1LI2	1783	genome.wustl.edu	37	16	66785177	66785177	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:66785177G>A	ENST00000258198.2	-	2	386	c.180C>T	c.(178-180)ttC>ttT	p.F60F	DYNC1LI2_ENST00000440564.2_Splice_Site_p.F60F|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000379482.2_Splice_Site_p.F60F|DYNC1LI2_ENST00000443351.2_Splice_Site_p.F60F	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGCGCTCACCGAAGACCAGGA	0.706																																																	0													26.0	28.0	27.0					16																	66785177		2199	4300	6499	SO:0001630	splice_region_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.181+1C>T	16.37:g.66785177G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	NULL	p.S46L	ENST00000258198.2	37	c.137	CCDS10818.1	16																																																																																			DYNC1LI2	-	NULL		0.706	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	G	NM_006141	Silent	66785177	-1	no_errors	ENST00000568180	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNLRB1	83658	genome.wustl.edu	37	20	33122637	33122637	+	Intron	SNP	T	T	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:33122637T>G	ENST00000357156.2	+	3	297				DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000417166.2_Silent_p.P95P	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1						metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						GGAACAGACCTCATGGCACAT	0.517																																																	0													45.0	40.0	42.0					20																	33122637		2203	4300	6503	SO:0001627	intron_variant	83658			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.247+38T>G	20.37:g.33122637T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Silent	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.P95	ENST00000357156.2	37	c.285	CCDS13235.1	20																																																																																			DYNLRB1	-	smart_Dynein_light-rel		0.517	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	T	NM_014183		33122637	+1	no_errors	ENST00000417166	ensembl	human	known	70_37	silent	SNP	0.022	G
DZIP1	22873	genome.wustl.edu	37	13	96234514	96234514	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:96234514C>T	ENST00000376829.2	-	23	3429	c.2578G>A	c.(2578-2580)Gat>Aat	p.D860N	DZIP1_ENST00000361156.3_Missense_Mutation_p.D841N|DZIP1_ENST00000347108.3_Missense_Mutation_p.D860N|DZIP1_ENST00000361396.2_Missense_Mutation_p.D841N	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	860					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCGCTCCAATCAGTCACAGTT	0.408																																																	0													241.0	202.0	215.0					13																	96234514		2203	4300	6503	SO:0001583	missense	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2578G>A	13.37:g.96234514C>T	ENSP00000366025:p.Asp860Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D860N	ENST00000376829.2	37	c.2578	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775639	0.90195	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.22945	2.03;1.93;1.93;2.03	5.24	5.24	0.73138	.	0.113069	0.64402	D	0.000017	T	0.49150	0.1540	M	0.74258	2.255	0.40567	D	0.981263	D;D	0.69078	0.997;0.997	P;P	0.60415	0.874;0.817	T	0.53885	-0.8375	10	0.72032	D	0.01	-8.8871	17.3858	0.87415	0.0:1.0:0.0:0.0	.	841;860	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	N	860;841;841;860	ENSP00000257312:D860N;ENSP00000355018:D841N;ENSP00000355175:D841N;ENSP00000366025:D860N	ENSP00000257312:D860N	D	-	1	0	DZIP1	95032515	0.930000	0.31532	0.223000	0.23860	0.916000	0.54674	4.399000	0.59703	2.605000	0.88082	0.591000	0.81541	GAT	DZIP1	-	NULL		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	C	NM_014934		96234514	-1	no_errors	ENST00000347108	ensembl	human	known	70_37	missense	SNP	0.688	T
E2F2	1870	genome.wustl.edu	37	1	23848447	23848447	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23848447C>T	ENST00000361729.2	-	3	886	c.460G>A	c.(460-462)Gac>Aac	p.D154N	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	154					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)		CAGTTCAGGTCCAGGACCCCA	0.587																																																	0													110.0	104.0	106.0					1																	23848447		2203	4300	6503	SO:0001583	missense	1870			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.460G>A	1.37:g.23848447C>T	ENSP00000355249:p.Asp154Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.D154N	ENST00000361729.2	37	c.460	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.238591	0.95240	.	.	ENSG00000007968	ENST00000361729	T	0.12984	2.63	5.62	4.69	0.59074	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.181217	0.46758	D	0.000264	T	0.37265	0.0997	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23904	-1.0175	10	0.87932	D	0	-30.0088	15.0495	0.71854	0.0:0.8569:0.1431:0.0	.	154	Q14209	E2F2_HUMAN	N	154	ENSP00000355249:D154N	ENSP00000355249:D154N	D	-	1	0	E2F2	23721034	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.770000	0.85390	1.341000	0.45600	0.591000	0.81541	GAC	E2F2	-	pfam_E2F_TDP		0.587	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	C	NM_004091		23848447	-1	no_errors	ENST00000361729	ensembl	human	known	70_37	missense	SNP	1.000	T
E2F8	79733	genome.wustl.edu	37	11	19259631	19259631	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:19259631G>C	ENST00000527884.1	-	3	296	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L22V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	22					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L22M(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATTCTTTCAGAGGTGTTTTC	0.413																																																	1	Substitution - Missense(1)	endometrium(1)											97.0	100.0	99.0					11																	19259631		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.64C>G	11.37:g.19259631G>C	ENSP00000434199:p.Leu22Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.L22V	ENST00000527884.1	37	c.64	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390245	0.42410	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.48522	2.09;2.09;0.81	5.27	3.41	0.39046	.	0.128851	0.35151	N	0.003418	T	0.47097	0.1427	M	0.63843	1.955	0.33224	D	0.555041	P	0.46395	0.877	B	0.43194	0.411	T	0.63497	-0.6624	10	0.62326	D	0.03	-9.6696	11.6651	0.51368	0.1459:0.0:0.8541:0.0	.	22	A0AVK6	E2F8_HUMAN	V	22	ENSP00000434199:L22V;ENSP00000250024:L22V;ENSP00000437326:L22V	ENSP00000250024:L22V	L	-	1	2	E2F8	19216207	0.409000	0.25368	1.000000	0.80357	0.943000	0.58893	0.712000	0.25779	0.717000	0.32145	-0.122000	0.15005	CTG	E2F8	-	NULL		0.413	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19259631	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	0.980	C
EBF1	1879	genome.wustl.edu	37	5	158126044	158126044	+	3'UTR	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:158126044C>G	ENST00000313708.6	-	0	2133				EBF1_ENST00000517373.1_3'UTR|EBF1_ENST00000380654.4_3'UTR|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTCCACTCTGGGACTTGT	0.368			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													77.0	63.0	67.0					5																	158126044		692	1591	2283	SO:0001624	3_prime_UTR_variant	1879			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.*75G>C	5.37:g.158126044C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW11	RNA	SNP	-	NULL	ENST00000313708.6	37	NULL	CCDS4343.1	5																																																																																			EBF1	-	-		0.368	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	C	NM_024007		158126044	-1	no_errors	ENST00000518323	ensembl	human	known	70_37	rna	SNP	1.000	G
EFCAB13	124989	genome.wustl.edu	37	17	45481351	45481351	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:45481351G>C	ENST00000331493.2	+	19	2536	c.2125G>C	c.(2125-2127)Gag>Cag	p.E709Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E613Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	709						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ACCTAAAGAAGAGGTAGAGAA	0.363																																																	0													81.0	87.0	85.0					17																	45481351		2203	4300	6503	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2125G>C	17.37:g.45481351G>C	ENSP00000332111:p.Glu709Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.E709Q	ENST00000331493.2	37	c.2125	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103019	0.37145	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.26660	1.72;1.72	4.04	1.93	0.25924	EF-hand-like domain (1);	0.659654	0.14537	N	0.313522	T	0.37461	0.1004	L	0.56769	1.78	0.19300	N	0.999977	D;D	0.76494	0.979;0.999	P;D	0.63703	0.658;0.917	T	0.08310	-1.0728	10	0.66056	D	0.02	1.7521	4.7818	0.13206	0.1226:0.224:0.6534:0.0	.	709;613	Q8IY85;G3V128	CQ057_HUMAN;.	Q	709;613	ENSP00000332111:E709Q;ENSP00000430048:E613Q	ENSP00000332111:E709Q	E	+	1	0	C17orf57	42836350	0.482000	0.25948	0.918000	0.36340	0.561000	0.35649	1.085000	0.30840	2.062000	0.61559	0.586000	0.80456	GAG	EFCAB13	-	NULL		0.363	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	G	NM_152347		45481351	+1	no_errors	ENST00000331493	ensembl	human	known	70_37	missense	SNP	0.503	C
EGFR	1956	genome.wustl.edu	37	7	55224461	55224461	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:55224461C>T	ENST00000275493.2	+	10	1320	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	EGFR_ENST00000344576.2_Silent_p.F381F|EGFR_ENST00000342916.3_Silent_p.F381F|EGFR_ENST00000455089.1_Silent_p.F336F|EGFR_ENST00000420316.2_Silent_p.F381F|EGFR_ENST00000442591.1_Silent_p.F381F|EGFR_ENST00000454757.2_Silent_p.F328F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	381					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGACTCCTTCACACATACTC	0.378		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													112.0	107.0	108.0					7																	55224461		2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1143C>T	7.37:g.55224461C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,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_cat_dom	p.F381	ENST00000275493.2	37	c.1143	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.378	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55224461	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	1.000	T
EGR1	1958	genome.wustl.edu	37	5	137801512	137801512	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137801512G>A	ENST00000239938.4	+	1	334	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	21					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACCCGTTCGGATCCTTTCCT	0.667																																																	0													82.0	73.0	76.0					5																	137801512		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.62G>A	5.37:g.137801512G>A	ENSP00000239938:p.Gly21Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G21E	ENST00000239938.4	37	c.62	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	g	20.4	3.992548	0.74703	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	T	0.11495	2.77	5.0	4.13	0.48395	.	0.225181	0.38005	N	0.001849	T	0.12817	0.0311	L	0.46157	1.445	0.37500	D	0.916747	P;B	0.44241	0.829;0.437	B;B	0.41571	0.36;0.186	T	0.08086	-1.0739	10	0.87932	D	0	-22.72	13.3921	0.60830	0.076:0.0:0.924:0.0	.	21;21	B4DNX4;P18146	.;EGR1_HUMAN	E	21	ENSP00000239938:G21E	ENSP00000239938:G21E	G	+	2	0	EGR1	137829411	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.094000	0.76944	1.342000	0.45619	0.486000	0.48141	GGA	EGR1	-	NULL		0.667	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	G	NM_001964		137801512	+1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	1.000	A
EGR1	1958	genome.wustl.edu	37	5	137803193	137803193	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137803193C>T	ENST00000239938.4	+	2	1327	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	352					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCGCTCCGACGAGCTC	0.662																																																	0													62.0	65.0	64.0					5																	137803193		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1055C>T	5.37:g.137803193C>T	ENSP00000239938:p.Ser352Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S352F	ENST00000239938.4	37	c.1055	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916549	0.52546	.	.	ENSG00000120738	ENST00000239938	T	0.16196	2.36	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.90483	3.12	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	T	0.61073	-0.7136	10	0.87932	D	0	-15.1024	15.72	0.77700	0.0:1.0:0.0:0.0	.	352	P18146	EGR1_HUMAN	F	352	ENSP00000239938:S352F	ENSP00000239938:S352F	S	+	2	0	EGR1	137831092	1.000000	0.71417	0.723000	0.30687	0.887000	0.51463	7.651000	0.83577	2.177000	0.69029	0.563000	0.77884	TCC	EGR1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	C	NM_001964		137803193	+1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	0.998	T
EHHADH	1962	genome.wustl.edu	37	3	184953231	184953231	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:184953231G>A	ENST00000231887.3	-	3	273	c.198C>T	c.(196-198)ttC>ttT	p.F66F	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	66	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TAGGAGCACTGAAGCCACGAA	0.443																																																	0													50.0	47.0	48.0					3																	184953231		2203	4300	6503	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.198C>T	3.37:g.184953231G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.F66	ENST00000231887.3	37	c.198	CCDS33901.1	3																																																																																			EHHADH	-	pfam_Crotonase_core		0.443	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184953231	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	silent	SNP	0.451	A
EIF2AK3	9451	genome.wustl.edu	37	2	88857388	88857388	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:88857388C>G	ENST00000303236.3	-	17	3518	c.3217G>C	c.(3217-3219)Gaa>Caa	p.E1073Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.E922Q|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1073	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ACAGCATTTTCAATGATGTTT	0.413																																					GBM(138;671 1851 16235 39058 45249)												0													186.0	180.0	182.0					2																	88857388		2203	4300	6503	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3217G>C	2.37:g.88857388C>G	ENSP00000307235:p.Glu1073Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1073Q	ENST00000303236.3	37	c.3217	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606692	0.87157	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.66099	-0.19;-0.19;-0.19	5.65	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239022	0.42964	D	0.000629	T	0.65291	0.2677	L	0.31065	0.9	0.41900	D	0.990418	D	0.65815	0.995	P	0.59171	0.853	T	0.64457	-0.6403	10	0.31617	T	0.26	-15.9405	16.1362	0.81490	0.1347:0.8653:0.0:0.0	.	1073	Q9NZJ5	E2AK3_HUMAN	Q	922;1073;922;952	ENSP00000408325:E922Q;ENSP00000307235:E1073Q;ENSP00000412076:E952Q	ENSP00000307235:E1073Q	E	-	1	0	EIF2AK3	88638503	1.000000	0.71417	0.988000	0.46212	0.849000	0.48306	6.220000	0.72237	1.483000	0.48342	0.655000	0.94253	GAA	EIF2AK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	C	NM_004836		88857388	-1	no_errors	ENST00000303236	ensembl	human	known	70_37	missense	SNP	1.000	G
ELMO1	9844	genome.wustl.edu	37	7	37136310	37136310	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:37136310C>G	ENST00000310758.4	-	15	1861	c.1214G>C	c.(1213-1215)cGa>cCa	p.R405P	ELMO1_ENST00000341056.3_Missense_Mutation_p.R107P|ELMO1_ENST00000448602.1_Missense_Mutation_p.R405P|ELMO1_ENST00000442504.1_Missense_Mutation_p.R405P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	405	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTGTCTTCTCGACTACTGTT	0.403																																																	0													171.0	137.0	149.0					7																	37136310		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1214G>C	7.37:g.37136310C>G	ENSP00000312185:p.Arg405Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R405P	ENST00000310758.4	37	c.1214	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.969099|4.969099	0.92855|0.92855	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.|T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46	4.96|4.96	4.96|4.96	0.65561|0.65561	.|Engulfment/cell motility, ELMO (2);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.66252|0.66252	-0.5970|-0.5970	5|10	.|0.87932	.|D	.|0	.|.	18.6141|18.6141	0.91296|0.91296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|405	.|Q92556	.|ELMO1_HUMAN	Q|P	185|107;405;309;405;405	.|ENSP00000342142:R107P;ENSP00000312185:R405P;ENSP00000406952:R405P;ENSP00000394458:R405P	.|ENSP00000312185:R405P	E|R	-|-	1|2	0|0	ELMO1|ELMO1	37102835|37102835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.748000|7.748000	0.85085|0.85085	2.467000|2.467000	0.83353|0.83353	0.563000|0.563000	0.77884|0.77884	GAG|CGA	ELMO1	-	pfam_Engulfment_cell_motility_ELMO		0.403	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37136310	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G
EMC3	55831	genome.wustl.edu	37	3	10011415	10011415	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:10011415G>A	ENST00000245046.2	-	7	1103	c.645C>T	c.(643-645)aaC>aaT	p.N215N	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	215						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGAAAGCTTTGTTTGTGTCTG	0.473																																																	0													125.0	110.0	115.0					3																	10011415		2203	4300	6503	SO:0001819	synonymous_variant	55831			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.645C>T	3.37:g.10011415G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.N215	ENST00000245046.2	37	c.645	CCDS2594.1	3																																																																																			EMC3	-	pirsf_UCP010045_TM_euk		0.473	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	G	NM_018447		10011415	-1	no_errors	ENST00000245046	ensembl	human	known	70_37	silent	SNP	1.000	A
ENOSF1	55556	genome.wustl.edu	37	18	690729	690730	+	Intron	INS	-	-	T	rs201690054		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:690729_690730insT	ENST00000251101.7	-	8	624				ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000340116.7_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1						cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GAGTCCAGCTGTTCTCCTGATC	0.545																																																	0																																										SO:0001627	intron_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.536-98->A	18.37:g.690731_690731dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Frame_Shift_Ins	INS	pfam_Mandelate_racemase_N	p.T147fs	ENST00000251101.7	37	c.440_439	CCDS11822.1	18																																																																																			ENOSF1	-	NULL		0.545	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	-	NM_017512		690730	-1	no_errors	ENST00000581475	ensembl	human	known	70_37	frame_shift_ins	INS	0.009:0.019	T
MIAT	440823	genome.wustl.edu	37	22	27068213	27068213	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:27068213C>T	ENST00000382641.1	-	0	404				MIAT_ENST00000423278.1_lincRNA|CTA-211A9.5_ENST00000437071.1_lincRNA																							GCTCTGGGCTCCCCCCGGGGG	0.597																																																	0																																												0																															22.37:g.27068213C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000382641.1	37	NULL		22																																																																																			CTA-373H7.7	-	-		0.597	CTA-373H7.7-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000206028	Clone_based_vega_gene	lincRNA	OTTHUMT00000320776.1	C			27068213	-1	no_errors	ENST00000382641	ensembl	human	known	70_37	rna	SNP	0.061	T
CTB-180A7.8	0	genome.wustl.edu	37	19	6400163	6400163	+	lincRNA	SNP	G	G	A	rs548208555	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:6400163G>A	ENST00000398173.3	+	0	248																											TGTCCCGCCCGGAGAGCCGGG	0.602													G|||	3	0.000599042	0.0015	0.0	5008	,	,		13567	0.001		0.0	False		,,,				2504	0.0																0																																												0																															19.37:g.6400163G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000398173.3	37	NULL		19																																																																																			CTB-180A7.8	-	-		0.602	CTB-180A7.8-201	KNOWN	basic	lincRNA	ENSG00000214347	Clone_based_vega_gene	lincRNA		G			6400163	+1	no_errors	ENST00000398173	ensembl	human	known	70_37	rna	SNP	0.005	A
ULK4P2	100288380	genome.wustl.edu	37	15	32720492	32720492	+	RNA	SNP	G	G	C	rs200200663	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:32720492G>C	ENST00000562108.1	-	0	176				U8_ENST00000384260.1_RNA|ULK4P1_ENST00000565949.1_RNA																							TCCAGGTCCTGCTGACTCAGG	0.398																																																	0																																												0																															15.37:g.32720492G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562108.1	37	NULL		15																																																																																			RP13-395E19.3	-	-		0.398	RP13-395E19.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000215304	Clone_based_vega_gene	processed_transcript	OTTHUMT00000429843.1	G			32720492	-1	no_errors	ENST00000562108	ensembl	human	known	70_37	rna	SNP	1.000	C
SEPT7	989	genome.wustl.edu	37	7	35882550	35882550	+	Intron	SNP	A	A	G	rs528282146	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:35882550A>G	ENST00000435235.1	+	2	442				SEPT7_ENST00000350320.6_Intron|AC007551.1_ENST00000408229.1_RNA|SEPT7_ENST00000399035.3_Intron|SEPT7_ENST00000475109.1_Intron|SEPT7_ENST00000494488.2_Intron|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000399034.2_Intron			Q16181	SEPT7_HUMAN	septin 7						cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						Ttatatatatatgtgtgtgtg	0.318													A|||	2	0.000399361	0.0	0.0	5008	,	,		18359	0.001		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.10+10040A>G	7.37:g.35882550A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52M76|Q6NX50	RNA	SNP	-	NULL	ENST00000435235.1	37	NULL		7																																																																																			AC007551.1	-	-		0.318	SEPT7-001	NOVEL	basic	protein_coding	ENSG00000221156	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000338285.1	A	NM_001788		35882550	+1	no_errors	ENST00000408229	ensembl	human	novel	70_37	rna	SNP	0.000	G
RNF38	152006	genome.wustl.edu	37	9	36334956	36334956	+	IGR	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:36334956C>A	ENST00000259605.6	-	0	5012					NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38						male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			CACAAGTACTCTTCTACGTAT	0.388																																																	0													202.0	177.0	184.0					9																	36334956		692	1591	2283	SO:0001628	intergenic_variant	0				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905		9.37:g.36334956C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	RNA	SNP	-	NULL	ENST00000259605.6	37	NULL	CCDS6603.1	9																																																																																			RP11-84P7.3	-	-		0.388	RNF38-001	KNOWN	basic|CCDS	protein_coding	ENSG00000224304	Clone_based_vega_gene	protein_coding	OTTHUMT00000052422.3	C	NM_022781		36334956	-1	no_errors	ENST00000426015	ensembl	human	known	70_37	rna	SNP	0.015	A
RP11-344E13.3	0	genome.wustl.edu	37	17	20805926	20805926	+	RNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:20805926C>T	ENST00000577537.1	+	0	1110				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							GCTTTGCACTCATTCCCGGTC	0.587																																																	0																																												0																															17.37:g.20805926C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000577537.1	37	NULL		17																																																																																			RP11-344E13.3	-	-		0.587	RP11-344E13.3-001	KNOWN	basic	antisense	ENSG00000233098	Clone_based_vega_gene	antisense	OTTHUMT00000444041.1	C			20805926	+1	no_errors	ENST00000577537	ensembl	human	known	70_37	rna	SNP	1.000	T
RP5-1158E12.1	0	genome.wustl.edu	37	X	45772928	45772928	+	lincRNA	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:45772928G>A	ENST00000420585.1	-	0	540																											AGTAGATCTCGAAGTATCTCA	0.483																																																	0																																												0																															X.37:g.45772928G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000420585.1	37	NULL		X																																																																																			RP5-1158E12.1	-	-		0.483	RP5-1158E12.1-001	KNOWN	basic	lincRNA	ENSG00000234613	Clone_based_vega_gene	lincRNA	OTTHUMT00000056345.1	G			45772928	-1	no_errors	ENST00000420585	ensembl	human	known	70_37	rna	SNP	0.896	A
LINC01287	103724390	genome.wustl.edu	37	7	153110184	153110184	+	lincRNA	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:153110184G>A	ENST00000416982.1	-	0	864																											gaacaaatttgatttttgact	0.512																																																	0													44.0	39.0	41.0					7																	153110184		692	1591	2283			0																															7.37:g.153110184G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			AC073236.3	-	-		0.512	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	Clone_based_vega_gene	lincRNA	OTTHUMT00000280517.1	G			153110184	-1	no_errors	ENST00000416982	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-435B5.5	0	genome.wustl.edu	37	1	143378941	143378941	+	lincRNA	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:143378941C>G	ENST00000428624.1	+	0	1633				RP11-435B5.4_ENST00000423249.1_lincRNA|RP11-435B5.3_ENST00000430699.1_lincRNA																							TAAATATTTTCAAACTTTTAG	0.284																																																	0																																												0																															1.37:g.143378941C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.3	-	-		0.284	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000242569	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	C			143378941	+1	no_errors	ENST00000431621	ensembl	human	known	70_37	rna	SNP	0.055	G
FCGR1A	2209	genome.wustl.edu	37	1	149754593	149754593	+	Intron	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:149754593G>C	ENST00000369168.4	+	2	85				RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_3'UTR|FCGR1A_ENST00000489479.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGGATTTTGAGAAAGAGAA	0.438																																																	0																																										SO:0001627	intron_variant	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.32-133G>C	1.37:g.149754593G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	P12315|Q5QNW7|Q92495|Q92663	RNA	SNP	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			RP11-196G18.21	-	-		0.438	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242663	Clone_based_vega_gene	protein_coding	OTTHUMT00000033446.1	G	NM_000566		149754593	-1	no_errors	ENST00000420462	ensembl	human	putative	70_37	rna	SNP	0.120	C
Unknown	0	genome.wustl.edu	37	4	3919595	3919595	+	IGR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:3919595G>C								ADRA2C (149344 upstream) : FAM86EP (23891 downstream)																							ATTACCAATGGCTGGATCAAT	0.313																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.3919595G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		4																																																																																			AC226119.4	-	-	0	0.313					ENSG00000253917	Clone_based_vega_gene			G			3919595	-1	no_errors	ENST00000514073	ensembl	human	known	70_37	rna	SNP	0.660	C
UGT2B11	10720	genome.wustl.edu	37	4	70080441	70080441	+	5'UTR	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70080441C>G	ENST00000446444.1	-	0	8				RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11						estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAGAGTCATCCTGGTGCAAT	0.393																																																	0													168.0	168.0	168.0					4																	70080441		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.-1G>C	4.37:g.70080441C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNV9	RNA	SNP	-	NULL	ENST00000446444.1	37	NULL	CCDS3527.1	4																																																																																			RP11-704M14.1	-	-		0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250696	Clone_based_vega_gene	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70080441	+1	no_errors	ENST00000505646	ensembl	human	known	70_37	rna	SNP	0.894	G
RAB1B	81876	genome.wustl.edu	37	11	66044806	66044806	+	3'UTR	SNP	G	G	T	rs576195345	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:66044806G>T	ENST00000311481.6	+	0	1850				CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.3_ENST00000501708.1_lincRNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TTAAGTCCCTGGGCTGCCCCC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.*1097G>T	11.37:g.66044806G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7S1	RNA	SNP	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.4	-	-		0.567	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254452	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2	G	NM_030981		66044806	-1	no_errors	ENST00000526951	ensembl	human	known	70_37	rna	SNP	0.999	T
FUT4	2526	genome.wustl.edu	37	11	94278935	94278935	+	3'UTR	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:94278935C>A	ENST00000358752.2	+	0	1919				RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)						carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCAAGTTGTCAGCTTTTTGA	0.547																																																	0													6.0	7.0	6.0					11																	94278935		2173	4265	6438	SO:0001624	3_prime_UTR_variant	0				CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.*43C>A	11.37:g.94278935C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS0	RNA	SNP	-	NULL	ENST00000358752.2	37	NULL	CCDS8301.1	11																																																																																			RP11-867G2.8	-	-		0.547	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255929	Clone_based_vega_gene	protein_coding	OTTHUMT00000396327.2	C	NM_002033		94278935	-1	no_errors	ENST00000536540	ensembl	human	known	70_37	rna	SNP	0.001	A
FUT4	2526	genome.wustl.edu	37	11	94278963	94278963	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:94278963C>T	ENST00000358752.2	+	0	1947				RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)						carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGTGCATCTCCTTGACTGCC	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.*71C>T	11.37:g.94278963C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS0	RNA	SNP	-	NULL	ENST00000358752.2	37	NULL	CCDS8301.1	11																																																																																			RP11-867G2.8	-	-		0.502	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255929	Clone_based_vega_gene	protein_coding	OTTHUMT00000396327.2	C	NM_002033		94278963	-1	no_errors	ENST00000536540	ensembl	human	known	70_37	rna	SNP	0.117	T
POTEM	641455	genome.wustl.edu	37	14	20010412	20010412	+	Intron	SNP	G	G	A	rs200791687		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:20010412G>A	ENST00000551509.1	-	5	969				RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M											endometrium(4)|kidney(1)|lung(4)	9						CACCAAGGTTGAAAGGAAGGG	0.368																																																	0																																										SO:0001627	intron_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.918-172C>T	14.37:g.20010412G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551509.1	37	NULL	CCDS45076.1	14																																																																																			RP11-244H18.1	-	-		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ENSG00000258276	Clone_based_vega_gene	protein_coding	OTTHUMT00000409490.3	G	NM_001145442		20010412	+1	no_errors	ENST00000547584	ensembl	human	known	70_37	rna	SNP	0.046	A
ZC3H10	84872	genome.wustl.edu	37	12	56515904	56515904	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:56515904G>C	ENST00000257940.2	+	0	1834				RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GAAGCCAGCAGAGAGGAAGGA	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.*253G>C	12.37:g.56515904G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000257940.2	37	NULL	CCDS8903.1	12																																																																																			RP11-603J24.5	-	-		0.532	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258317	Clone_based_vega_gene	protein_coding	OTTHUMT00000407826.1	G	NM_032786		56515904	-1	no_errors	ENST00000549438	ensembl	human	known	70_37	rna	SNP	1.000	C
LOC101929735	101929735	genome.wustl.edu	37	14	22887341	22887341	+	lincRNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:22887341G>C	ENST00000555460.1	+	0	151				AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA																							TGTCTGAGCAGAGGTAGAGTG	0.453																																																	0																																												0																															14.37:g.22887341G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000555460.1	37	NULL		14																																																																																			AE000661.50	-	-		0.453	AE000661.50-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000259042	Clone_based_vega_gene	lincRNA	OTTHUMT00000410668.1	G			22887341	+1	no_errors	ENST00000555460	ensembl	human	putative	70_37	rna	SNP	0.003	C
CSF2RA	1438	genome.wustl.edu	37	X	1410988	1410988	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:1410988C>T	ENST00000381524.3	+	7	832				BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Intron|CSF2RA_ENST00000432318.2_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000381529.3_Intron|MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000494969.2_Intron|BX649553.4_ENST00000580687.1_RNA|BX649553.2_ENST00000578699.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCCTGCACCACCTCCACCT	0.577																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0																																										SO:0001627	intron_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.646+1586C>T	X.37:g.1410988C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	RNA	SNP	-	NULL	ENST00000381524.3	37	NULL	CCDS35191.1	X																																																																																			BX649553.4	-	-		0.577	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000264819	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000035013.2	C			1410988	+1	no_errors	ENST00000580687	ensembl	human	novel	70_37	rna	SNP	0.569	T
RP11-285M22.1	0	genome.wustl.edu	37	17	22192669	22192669	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:22192669C>T	ENST00000577879.1	+	0	127				RP11-285M22.3_ENST00000582507.1_lincRNA																							GATCTTCTCTCTGGATCCGGA	0.498																																																	0																																												0																															17.37:g.22192669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000577879.1	37	NULL		17																																																																																			RP11-285M22.1	-	-		0.498	RP11-285M22.1-001	KNOWN	basic	lincRNA	ENSG00000265114	Clone_based_vega_gene	lincRNA	OTTHUMT00000444747.1	C			22192669	+1	no_errors	ENST00000577879	ensembl	human	known	70_37	rna	SNP	0.086	T
RP11-824M15.3	0	genome.wustl.edu	37	18	57491544	57491544	+	RNA	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:57491544G>A	ENST00000588088.1	+	0	379																											GGACCTCACTGAGATCAGGGA	0.562											OREG0025023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0																															18.37:g.57491544G>A		Somatic	1023	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000588088.1	37	NULL		18																																																																																			RP11-824M15.3	-	-		0.562	RP11-824M15.3-002	PUTATIVE	basic	processed_transcript	ENSG00000267669	Clone_based_vega_gene	pseudogene	OTTHUMT00000449432.1	G			57491544	+1	no_errors	ENST00000588088	ensembl	human	putative	70_37	rna	SNP	1.000	A
EOGT	285203	genome.wustl.edu	37	3	69054329	69054329	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:69054329G>A	ENST00000383701.3	-	7	1219	c.477C>T	c.(475-477)ctC>ctT	p.L159L	EOGT_ENST00000295571.5_Silent_p.L159L|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Silent_p.L58L	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	159					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATCAAGATAGAGATTGGTTG	0.358																																																	0													117.0	118.0	118.0					3																	69054329		2203	4300	6503	SO:0001819	synonymous_variant	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.477C>T	3.37:g.69054329G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	pfam_Glycosyltransferase_AER61	p.L159	ENST00000383701.3	37	c.477		3																																																																																			EOGT	-	pfam_Glycosyltransferase_AER61		0.358	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69054329	-1	no_errors	ENST00000383701	ensembl	human	known	70_37	silent	SNP	0.996	A
EP400	57634	genome.wustl.edu	37	12	132446159	132446159	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:132446159C>G	ENST00000333577.4	+	2	1104	c.995C>G	c.(994-996)tCc>tGc	p.S332C	EP400_ENST00000389561.2_Missense_Mutation_p.S332C|EP400_ENST00000389562.2_Missense_Mutation_p.S332C|EP400_ENST00000332482.4_Missense_Mutation_p.S332C|EP400_ENST00000330386.6_Missense_Mutation_p.S332C			Q96L91	EP400_HUMAN	E1A binding protein p400	332					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGCCTTTCCAGCCTCCCA	0.662																																																	0													9.0	8.0	8.0					12																	132446159		2153	4210	6363	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.995C>G	12.37:g.132446159C>G	ENSP00000333602:p.Ser332Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S332C	ENST00000333577.4	37	c.995		12	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721773	0.30503	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92048	-2.91;-2.96;-2.96;-2.95;-2.96	5.58	4.67	0.58626	.	0.239676	0.43579	N	0.000546	D	0.95456	0.8524	M	0.71581	2.175	0.35029	D	0.758571	B;B;B;D;B	0.89917	0.023;0.023;0.023;1.0;0.102	B;B;B;D;B	0.72075	0.023;0.023;0.023;0.976;0.035	D	0.98871	1.0766	10	0.72032	D	0.01	.	16.2267	0.82300	0.0:0.8668:0.1332:0.0	.	332;332;332;332;332	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	C	332	ENSP00000333602:S332C;ENSP00000374212:S332C;ENSP00000374213:S332C;ENSP00000331737:S332C;ENSP00000330620:S332C	ENSP00000330620:S332C	S	+	2	0	EP400	131012112	0.999000	0.42202	0.999000	0.59377	0.923000	0.55619	4.620000	0.61226	1.303000	0.44873	0.561000	0.74099	TCC	EP400	-	NULL		0.662	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132446159	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	G
EP400NL	347918	genome.wustl.edu	37	12	132589811	132589811	+	Missense_Mutation	SNP	G	G	A	rs543567294		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:132589811G>A	ENST00000376625.4	+	1	1272	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	EP400NL_ENST00000389560.2_Missense_Mutation_p.E347K|EP400NL_ENST00000392352.1_Missense_Mutation_p.E284K|EP400NL_ENST00000361109.5_Missense_Mutation_p.E263K|EP400NL_ENST00000443539.2_Missense_Mutation_p.E284K			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	416										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GGACATTGAAGAAGAGGAAGA	0.433																																																	0													99.0	77.0	83.0					12																	132589811		692	1591	2283	SO:0001583	missense	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1246G>A	12.37:g.132589811G>A	ENSP00000365812:p.Glu416Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	NULL	p.E416K	ENST00000376625.4	37	c.1246		12	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699377	0.48307	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000361109;ENST00000376625	.	.	.	2.81	2.81	0.32909	.	0.000000	0.33438	U	0.004911	T	0.57051	0.2027	.	.	.	0.30444	N	0.775928	D;P;D;P	0.55385	0.971;0.944;0.958;0.855	P;P;P;P	0.54889	0.647;0.763;0.679;0.648	T	0.62676	-0.6804	8	0.54805	T	0.06	.	13.8526	0.63506	0.0:0.0:1.0:0.0	.	263;416;284;416	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	K	347;284;284;263;416	.	ENSP00000328997:E348K	E	+	1	0	EP400NL	131155764	0.997000	0.39634	0.972000	0.41901	0.209000	0.24338	4.813000	0.62620	1.258000	0.44101	0.305000	0.20034	GAA	EP400NL	-	NULL		0.433	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		G	NM_182613		132589811	+1	no_errors	ENST00000376625	ensembl	human	known	70_37	missense	SNP	1.000	A
EP400NL	347918	genome.wustl.edu	37	12	132589847	132589847	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:132589847G>A	ENST00000376625.4	+	1	1308	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	EP400NL_ENST00000389560.2_Missense_Mutation_p.E359K|EP400NL_ENST00000392352.1_Missense_Mutation_p.E296K|EP400NL_ENST00000361109.5_Missense_Mutation_p.E275K|EP400NL_ENST00000443539.2_Missense_Mutation_p.E296K			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	428										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CATTAATGATGAGGTAACAGT	0.458																																																	0													54.0	41.0	45.0					12																	132589847		692	1591	2283	SO:0001583	missense	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1282G>A	12.37:g.132589847G>A	ENSP00000365812:p.Glu428Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	NULL	p.E428K	ENST00000376625.4	37	c.1282		12	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176972	0.38413	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000361109;ENST00000376625	.	.	.	2.49	2.49	0.30216	.	0.688531	0.10982	U	0.612636	T	0.54935	0.1889	.	.	.	0.29855	N	0.828073	P;P;P;P	0.50617	0.928;0.937;0.864;0.746	P;P;P;P	0.53593	0.671;0.73;0.523;0.452	T	0.52124	-0.8617	8	0.39692	T	0.17	.	12.1179	0.53875	0.0:0.0:1.0:0.0	.	275;428;296;428	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	K	359;296;296;275;428	.	ENSP00000328997:E360K	E	+	1	0	EP400NL	131155800	1.000000	0.71417	0.840000	0.33206	0.032000	0.12392	6.632000	0.74281	1.065000	0.40693	0.313000	0.20887	GAG	EP400NL	-	NULL		0.458	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		G	NM_182613		132589847	+1	no_errors	ENST00000376625	ensembl	human	known	70_37	missense	SNP	1.000	A
EPB41L3	23136	genome.wustl.edu	37	18	5415862	5415862	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:5415862C>G	ENST00000341928.2	-	13	2362	c.2022G>C	c.(2020-2022)ttG>ttC	p.L674F	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L674F|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	674	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAGGCGCTCAAGGAGGCCG	0.577																																																	0													88.0	83.0	85.0					18																	5415862		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2022G>C	18.37:g.5415862C>G	ENSP00000343158:p.Leu674Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L674F	ENST00000341928.2	37	c.2022	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554103	0.86231	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.85171	-1.95;-1.95	5.52	5.52	0.82312	.	0.102120	0.41396	D	0.000894	D	0.88969	0.6582	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90062	0.4157	10	0.72032	D	0.01	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	674	Q9Y2J2	E41L3_HUMAN	F	674	ENSP00000343158:L674F;ENSP00000341138:L674F	ENSP00000343158:L674F	L	-	3	2	EPB41L3	5405862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.003000	0.70701	2.586000	0.87340	0.563000	0.77884	TTG	EPB41L3	-	pirsf_Band_41_protein		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5415862	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G
EPHB6	2051	genome.wustl.edu	37	7	142561388	142561388	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:142561388G>C	ENST00000392957.2	+	6	887		c.e6-1		EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Splice_Site	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTCTGGGCAGAGGTATTGCT	0.582																																																	0													75.0	72.0	73.0					7																	142561388		2203	4300	6503	SO:0001630	splice_region_variant	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.101-1G>C	7.37:g.142561388G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Splice_Site	SNP	-	e2-1	ENST00000392957.2	37	c.101-1	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185788	0.78789	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7831	0.91942	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB6	142271510	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.654000	0.91092	2.679000	0.91253	0.557000	0.71058	.	EPHB6	-	-		0.582	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G		Intron	142561388	+1	no_errors	ENST00000392957	ensembl	human	known	70_37	splice_site	SNP	1.000	C
EPS8L1	54869	genome.wustl.edu	37	19	55593878	55593878	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55593878G>A	ENST00000201647.6	+	12	1178	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Silent_p.L310L|EPS8L1_ENST00000245618.5_Silent_p.L247L|EPS8L1_ENST00000586329.1_Silent_p.L356L|EPS8L1_ENST00000588359.1_Silent_p.L28L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	374					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCGCATCTGACATCGGATG	0.682																																					Ovarian(149;255 1863 3636 27051 29647)												0													16.0	15.0	15.0					19																	55593878		2141	4206	6347	SO:0001819	synonymous_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1122G>A	19.37:g.55593878G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.L374	ENST00000201647.6	37	c.1122	CCDS12914.1	19																																																																																			EPS8L1	-	NULL		0.682	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	G	NM_017729		55593878	+1	no_errors	ENST00000201647	ensembl	human	known	70_37	silent	SNP	0.998	A
ERCC6	2074	genome.wustl.edu	37	10	50732496	50732496	+	Missense_Mutation	SNP	C	C	T	rs150065567		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:50732496C>T	ENST00000355832.5	-	5	1058	c.980G>A	c.(979-981)cGt>cAt	p.R327H	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R327H|PGBD3_ENST00000603152.1_Missense_Mutation_p.R327H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R327H|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	327					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTTTTCAAACGCTCCTCTTT	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																																									0								C	HIS/ARG	0,4406		0,0,2203	133.0	129.0	130.0		980	4.0	0.6	10	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC6	NM_000124.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	327/1494	50732496	1,13005	2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.980G>A	10.37:g.50732496C>T	ENSP00000348089:p.Arg327His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R327H	ENST00000355832.5	37	c.980	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696713	0.68386	0.0	1.16E-4	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.85088	-1.94;3.13;3.13	6.03	4.03	0.46877	.	.	.	.	.	T	0.78188	0.4244	M	0.65975	2.015	0.21147	N	0.999774	P;B	0.40250	0.709;0.149	B;B	0.30251	0.113;0.012	T	0.69064	-0.5244	9	0.33940	T	0.23	-7.7215	5.7679	0.18237	0.1447:0.6428:0.1395:0.0729	.	327;327	E7EV46;Q03468	.;ERCC6_HUMAN	H	327	ENSP00000348089:R327H;ENSP00000423550:R327H;ENSP00000387966:R327H	ENSP00000348089:R327H	R	-	2	0	ERCC6;RP11-123B3.6	50402502	0.996000	0.38824	0.583000	0.28640	0.854000	0.48673	2.926000	0.48892	1.487000	0.48415	0.655000	0.94253	CGT	ERCC6	-	NULL		0.493	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	C	NM_000124		50732496	-1	no_errors	ENST00000355832	ensembl	human	known	70_37	missense	SNP	0.103	T
ERCC8	1161	genome.wustl.edu	37	5	60188027	60188027	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:60188027G>A	ENST00000265038.5	-	10	886				ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Intron|ERCC8_ENST00000426742.2_Intron	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGACGATTCGGATTGGTGCAA	0.448																																																	0																																										SO:0001627	intron_variant	1161			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.844-1114C>T	5.37:g.60188027G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB64|Q6FHX5|Q96GB9	RNA	SNP	-	NULL	ENST00000265038.5	37	NULL	CCDS3978.1	5																																																																																			ERCC8	-	-		0.448	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	G	NM_000082		60188027	-1	no_errors	ENST00000462279	ensembl	human	known	70_37	rna	SNP	0.001	A
ERF	2077	genome.wustl.edu	37	19	42752793	42752793	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:42752793C>T	ENST00000222329.4	-	4	1628	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	ERF_ENST00000440177.2_Missense_Mutation_p.D416N|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	491					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGGCGACAGTCTTCACTCCAG	0.701																																																	0													33.0	40.0	37.0					19																	42752793		2201	4297	6498	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1471G>A	19.37:g.42752793C>T	ENSP00000222329:p.Asp491Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.D491N	ENST00000222329.4	37	c.1471	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642214	0.87859	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39592	2.04;1.07	4.12	4.12	0.48240	.	0.000000	0.34777	U	0.003693	T	0.52403	0.1732	L	0.55990	1.75	0.58432	D	0.999999	D	0.55385	0.971	P	0.54238	0.746	T	0.58978	-0.7540	10	0.87932	D	0	.	15.672	0.77286	0.0:1.0:0.0:0.0	.	491	P50548	ERF_HUMAN	N	491;416	ENSP00000222329:D491N;ENSP00000388173:D416N	ENSP00000222329:D491N	D	-	1	0	ERF	47444633	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.939000	0.63526	2.297000	0.77311	0.561000	0.74099	GAC	ERF	-	NULL		0.701	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42752793	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	missense	SNP	1.000	T
ERLIN1	10613	genome.wustl.edu	37	10	101923794	101923794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:101923794C>A	ENST00000421367.2	-	8	3329	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	ERLIN1_ENST00000407654.3_Nonsense_Mutation_p.E208*	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	206					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCTCAGCTTCTTTTTCCACA	0.368																																																	0													270.0	235.0	247.0					10																	101923794		2203	4300	6503	SO:0001587	stop_gained	10613			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.622G>T	10.37:g.101923794C>A	ENSP00000410964:p.Glu208*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ42|Q53HV0	Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E208*	ENST00000421367.2	37	c.622	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	C	36	5.667280	0.96745	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.2437	16.8964	0.86101	0.0:1.0:0.0:0.0	.	.	.	.	X	208;208;124;208	.	ENSP00000359436:E208X	E	-	1	0	ERLIN1	101913784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.365000	0.73090	2.649000	0.89929	0.563000	0.77884	GAA	ERLIN1	-	pfam_Band_7		0.368	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	C	NM_006459		101923794	-1	no_errors	ENST00000407654	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ESPN	83715	genome.wustl.edu	37	1	6512126	6512126	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:6512126G>C	ENST00000377828.1	+	10	2463	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Missense_Mutation_p.K199N|ESPN_ENST00000461727.1_Missense_Mutation_p.K199N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	765					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCTGAAGATGCAGGAGG	0.677																																																	0													16.0	19.0	18.0					1																	6512126		2193	4279	6472	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2295G>C	1.37:g.6512126G>C	ENSP00000367059:p.Lys765Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.K765N	ENST00000377828.1	37	c.2295	CCDS70.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312607|4.312607	0.81358|0.81358	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000434576|ENST00000377828;ENST00000416731	.|D;D	.|0.87491	.|-2.26;-2.26	4.93|4.93	2.99|2.99	0.34606|0.34606	.|.	.|0.053230	.|0.64402	.|D	.|0.000001	D|D	0.91686|0.91686	0.7372|0.7372	M|M	0.75777|0.75777	2.31|2.31	0.42351|0.42351	D|D	0.99237|0.99237	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.76071	.|0.908;0.987	D|D	0.91605|0.91605	0.5298|0.5298	5|10	.|0.87932	.|D	.|0	-24.7978|-24.7978	9.9214|9.9214	0.41466|0.41466	0.1766:0.0:0.8234:0.0|0.1766:0.0:0.8234:0.0	.|.	.|199;765	.|B1AK53-2;B1AK53	.|.;ESPN_HUMAN	H|N	109|765;199	.|ENSP00000367059:K765N;ENSP00000399239:K199N	.|ENSP00000367059:K765N	D|K	+|+	1|3	0|2	ESPN|ESPN	6434713|6434713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.586000|2.586000	0.46119|0.46119	1.042000|1.042000	0.40150|0.40150	0.491000|0.491000	0.48974|0.48974	GAT|AAG	ESPN	-	NULL		0.677	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	G	NM_031475		6512126	+1	no_errors	ENST00000377828	ensembl	human	known	70_37	missense	SNP	1.000	C
EXOC6	54536	genome.wustl.edu	37	10	94675644	94675644	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:94675644G>A	ENST00000260762.6	+	7	807	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EXOC6_ENST00000371547.4_Missense_Mutation_p.E281K|EXOC6_ENST00000371552.4_Missense_Mutation_p.E260K|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000443748.2_Missense_Mutation_p.E265K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	265					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ACATTCACTTGAAGAAGAGGA	0.294																																																	0													83.0	90.0	87.0					10																	94675644		2202	4297	6499	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.793G>A	10.37:g.94675644G>A	ENSP00000260762:p.Glu265Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E281K	ENST00000260762.6	37	c.841	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812396	0.16537	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.32023	1.55;1.55;1.47;1.55	4.72	3.81	0.43845	.	0.187670	0.48286	D	0.000194	T	0.22742	0.0549	L	0.40543	1.245	0.22684	N	0.998859	B;B;B;B;B	0.22541	0.031;0.071;0.002;0.005;0.001	B;B;B;B;B	0.23150	0.044;0.023;0.007;0.007;0.007	T	0.19321	-1.0309	10	0.11182	T	0.66	-13.6457	11.6789	0.51446	0.0838:0.0:0.9162:0.0	.	281;265;257;265;260	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	K	281;260;265;265	ENSP00000360602:E281K;ENSP00000360607:E260K;ENSP00000396206:E265K;ENSP00000260762:E265K	ENSP00000260762:E265K	E	+	1	0	EXOC6	94665624	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	5.281000	0.65609	1.120000	0.41904	-0.137000	0.14449	GAA	EXOC6	-	pirsf_Sec15		0.294	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94675644	+1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	A
EXOC6	54536	genome.wustl.edu	37	10	94675656	94675656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:94675656G>T	ENST00000260762.6	+	7	819	c.805G>T	c.(805-807)Gag>Tag	p.E269*	EXOC6_ENST00000371547.4_Nonsense_Mutation_p.E285*|EXOC6_ENST00000371552.4_Nonsense_Mutation_p.E264*|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000443748.2_Nonsense_Mutation_p.E269*	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	269					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGAAGAGGATGAGAATGAAGA	0.289																																																	0													82.0	88.0	86.0					10																	94675656		2202	4296	6498	SO:0001587	stop_gained	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.805G>T	10.37:g.94675656G>T	ENSP00000260762:p.Glu269*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Nonsense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E285*	ENST00000260762.6	37	c.853	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515767	0.85495	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	.	.	.	4.44	4.44	0.53790	.	0.150856	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-12.449	15.628	0.76878	0.0:0.0:1.0:0.0	.	.	.	.	X	285;264;269;269	.	ENSP00000260762:E269X	E	+	1	0	EXOC6	94665636	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.970000	0.76099	2.192000	0.70111	0.655000	0.94253	GAG	EXOC6	-	pirsf_Sec15		0.289	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94675656	+1	no_errors	ENST00000371547	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EXOC7	23265	genome.wustl.edu	37	17	74086476	74086476	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74086476G>A	ENST00000335146.7	-	8	1041	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	EXOC7_ENST00000411744.2_Missense_Mutation_p.H271Y|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Missense_Mutation_p.H302Y|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000607838.1_Missense_Mutation_p.H302Y|EXOC7_ENST00000589210.1_Intron			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	330					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCTCGTGACCTGGCGAG	0.637																																																	0													55.0	57.0	56.0					17																	74086476		692	1591	2283	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.988C>T	17.37:g.74086476G>A	ENSP00000334100:p.His330Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.H330Y	ENST00000335146.7	37	c.988	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200490	0.22121	.	.	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000411744	.	.	.	5.2	5.2	0.72013	Cullin repeat-like-containing domain (1);	0.126603	0.52532	D	0.000068	T	0.35856	0.0946	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.35549	-0.9784	9	0.02654	T	1	-19.8431	18.7322	0.91739	0.0:0.0:1.0:0.0	.	271;302;330	Q9UPT5-5;Q9UPT5-6;Q9UPT5	.;.;EXOC7_HUMAN	Y	302;330;271	.	ENSP00000334100:H330Y	H	-	1	0	EXOC7	71598071	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.538000	0.73852	2.430000	0.82344	0.455000	0.32223	CAC	EXOC7	-	superfamily_Cullin_repeat-like_dom		0.637	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	G	NM_015219		74086476	-1	no_errors	ENST00000335146	ensembl	human	known	70_37	missense	SNP	1.000	A
EXOC7	23265	genome.wustl.edu	37	17	74087299	74087299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74087299G>A	ENST00000335146.7	-	7	879	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Nonsense_Mutation_p.Q235*|EXOC7_ENST00000405575.4_Nonsense_Mutation_p.Q276*|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000607838.1_Nonsense_Mutation_p.Q276*|EXOC7_ENST00000589210.1_Nonsense_Mutation_p.Q276*			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	276					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAAGGTTCTGAGCCTTACGG	0.532																																																	0													175.0	146.0	156.0					17																	74087299		2203	4300	6503	SO:0001587	stop_gained	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.826C>T	17.37:g.74087299G>A	ENSP00000334100:p.Gln276*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Nonsense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.Q276*	ENST00000335146.7	37	c.826	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461370	0.84317	.	.	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372	.	.	.	5.81	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-28.1909	16.8932	0.86093	0.0:0.1283:0.8717:0.0	.	.	.	.	X	276;276;276;235	.	ENSP00000334100:Q276X	Q	-	1	0	EXOC7	71598894	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	9.229000	0.95273	1.435000	0.47434	-0.175000	0.13238	CAG	EXOC7	-	superfamily_Cullin_repeat-like_dom		0.532	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	G	NM_015219		74087299	-1	no_errors	ENST00000335146	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EYS	346007	genome.wustl.edu	37	6	66204828	66204828	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:66204828C>T	ENST00000370621.3	-	4	1002	c.476G>A	c.(475-477)tGt>tAt	p.C159Y	EYS_ENST00000370618.3_Missense_Mutation_p.C159Y|EYS_ENST00000342421.5_Missense_Mutation_p.C159Y|EYS_ENST00000503581.1_Missense_Mutation_p.C159Y|EYS_ENST00000393380.2_Missense_Mutation_p.C159Y|EYS_ENST00000370616.2_Missense_Mutation_p.C159Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	159					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCCAGTGGACAAGGTGATGG	0.423																																																	0													73.0	64.0	67.0					6																	66204828		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.476G>A	6.37:g.66204828C>T	ENSP00000359655:p.Cys159Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C159Y	ENST00000370621.3	37	c.476		6	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834511	0.71373	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.81	4.81	0.61882	.	.	.	.	.	D	0.82903	0.5138	N	0.08118	0	0.32876	D	0.509883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86088	0.1548	9	0.87932	D	0	.	14.9767	0.71281	0.0:1.0:0.0:0.0	.	159;159;159	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Y	159	ENSP00000424243:C159Y;ENSP00000359655:C159Y;ENSP00000359650:C159Y;ENSP00000377042:C159Y;ENSP00000341818:C159Y;ENSP00000359652:C159Y	ENSP00000341818:C159Y	C	-	2	0	EYS	66261549	1.000000	0.71417	0.728000	0.30774	0.911000	0.54048	3.587000	0.53957	2.352000	0.79861	0.591000	0.81541	TGT	EYS	-	NULL		0.423	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		66204828	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	1.000	T
F5	2153	genome.wustl.edu	37	1	169509975	169509975	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:169509975G>T	ENST00000367797.3	-	13	4554	c.4353C>A	c.(4351-4353)ctC>ctA	p.L1451L	F5_ENST00000367796.3_Silent_p.L1456L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1451	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATATCTGGCTGAGATCCGGGA	0.468																																																	0													78.0	82.0	81.0					1																	169509975		2203	4300	6503	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4353C>A	1.37:g.169509975G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1456	ENST00000367797.3	37	c.4368	CCDS1281.1	1																																																																																			F5	-	NULL		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	G	NM_000130		169509975	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	silent	SNP	0.000	T
FAH	2184	genome.wustl.edu	37	15	80464522	80464522	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:80464522G>C	ENST00000407106.1	+	9	793	c.638G>C	c.(637-639)gGa>gCa	p.G213A	FAH_ENST00000561421.1_Missense_Mutation_p.G213A|FAH_ENST00000539156.1_Missense_Mutation_p.G143A|FAH_ENST00000261755.5_Missense_Mutation_p.G213A|FAH_ENST00000558627.1_3'UTR			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	213					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACAGATTGGGAGAGCCGATC	0.498									Tyrosinemia, type 1																																								0													104.0	102.0	103.0					15																	80464522		2203	4300	6503	SO:0001583	missense	2184	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.638G>C	15.37:g.80464522G>C	ENSP00000385080:p.Gly213Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.G213A	ENST00000407106.1	37	c.638	CCDS10314.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422230	0.83559	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.94966	-3.57;-3.57;-3.57	4.87	4.87	0.63330	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97383	0.9144	M	0.92459	3.31	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	D	0.98503	1.0615	10	0.87932	D	0	-13.4853	16.7757	0.85550	0.0:0.0:1.0:0.0	.	213	P16930	FAAA_HUMAN	A	213;213;143	ENSP00000385080:G213A;ENSP00000261755:G213A;ENSP00000454271:G143A	ENSP00000261755:G213A	G	+	2	0	FAH	78251577	1.000000	0.71417	0.913000	0.36048	0.877000	0.50540	8.792000	0.91856	2.258000	0.74832	0.561000	0.74099	GGA	FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase		0.498	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2	G			80464522	+1	no_errors	ENST00000261755	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM114A1	92689	genome.wustl.edu	37	4	38916592	38916592	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:38916592C>T	ENST00000358869.2	+	8	1019	c.843C>T	c.(841-843)ctC>ctT	p.L281L	FAM114A1_ENST00000515037.1_Silent_p.L74L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	281						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGCAGCTCACGATGGAGA	0.468																																																	0													108.0	94.0	99.0					4																	38916592		2203	4300	6503	SO:0001819	synonymous_variant	92689				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.843C>T	4.37:g.38916592C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	pfam_DUF719	p.L281	ENST00000358869.2	37	c.843	CCDS3447.1	4																																																																																			FAM114A1	-	pfam_DUF719		0.468	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	C	NM_138389		38916592	+1	no_errors	ENST00000358869	ensembl	human	known	70_37	silent	SNP	0.722	T
FAM114A2	10827	genome.wustl.edu	37	5	153372602	153372602	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:153372602G>C	ENST00000351797.4	-	14	1528	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.L414L|FAM114A2_ENST00000522858.1_Silent_p.L484L|FAM114A2_ENST00000520667.1_Silent_p.L484L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	484							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGTTCTCAATGAGAGAGATCT	0.443																																																	0													141.0	132.0	135.0					5																	153372602		2203	4300	6503	SO:0001819	synonymous_variant	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1452C>G	5.37:g.153372602G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D8|Q9H7E0	Silent	SNP	pfam_DUF719	p.L484	ENST00000351797.4	37	c.1452	CCDS4323.1	5																																																																																			FAM114A2	-	NULL		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	G	NM_018691		153372602	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	silent	SNP	1.000	C
FAM120C	54954	genome.wustl.edu	37	X	54161359	54161359	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:54161359G>A	ENST00000375180.2	-	7	1577	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	FAM120C_ENST00000328235.4_Silent_p.P507P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	507							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGTAATTGGGAAACTGGG	0.512																																																	0													85.0	69.0	75.0					X																	54161359		2203	4300	6503	SO:0001819	synonymous_variant	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1521C>T	X.37:g.54161359G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMT7	Silent	SNP	NULL	p.P507	ENST00000375180.2	37	c.1521	CCDS14356.1	X																																																																																			FAM120C	-	NULL		0.512	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	G	NM_017848		54161359	-1	no_errors	ENST00000375180	ensembl	human	known	70_37	silent	SNP	0.989	A
FAM171A1	221061	genome.wustl.edu	37	10	15254946	15254946	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:15254946C>T	ENST00000378116.4	-	8	2647	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	881						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGGGGCCTCTCCTCCCGTTTC	0.502																																																	0													129.0	127.0	128.0					10																	15254946		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2641G>A	10.37:g.15254946C>T	ENSP00000367356:p.Glu881Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E881K	ENST00000378116.4	37	c.2641	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821501	0.90873	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.42131	0.98	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71639	-0.4532	10	0.87932	D	0	-33.0221	18.5102	0.90913	0.0:1.0:0.0:0.0	.	881	Q5VUB5	F1711_HUMAN	K	881;880	ENSP00000367356:E881K	ENSP00000367356:E881K	E	-	1	0	FAM171A1	15294952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.627000	0.83176	2.597000	0.87782	0.563000	0.77884	GAG	FAM171A1	-	pfam_Uncharacterised_FAM171		0.502	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15254946	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM182B	728882	genome.wustl.edu	37	20	25847928	25847928	+	Intron	SNP	C	C	T	rs76060273	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:25847928C>T	ENST00000478164.1	-	1	198				FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						GTTGCCATCTCCCATTCCCGG	0.547													.|||	9	0.00179712	0.0068	0.0	5008	,	,		20446	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	728882					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000478164.1:c.794+660G>A	20.37:g.25847928C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0Q1	RNA	SNP	-	NULL	ENST00000478164.1	37	NULL		20																																																																																			FAM182B	-	-		0.547	FAM182B-005	KNOWN	basic	processed_transcript	FAM182B	HGNC	protein_coding	OTTHUMT00000316665.1	C	NR_026714		25847928	-1	no_errors	ENST00000424021	ensembl	human	known	70_37	rna	SNP	0.046	T
LRRC75A	388341	genome.wustl.edu	37	17	16347309	16347309	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:16347309C>A	ENST00000409083.3	-	3	674	c.512G>T	c.(511-513)gGg>gTg	p.G171V	FAM211A_ENST00000470794.1_Missense_Mutation_p.G210C|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						CCTGTGAAGCCCAGCTCCACG	0.642																																																	0													70.0	57.0	62.0					17																	16347309		2203	4300	6503	SO:0001583	missense	388341																														ENST00000409083.3:c.512G>T	17.37:g.16347309C>A	ENSP00000386504:p.Gly171Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G210C	ENST00000409083.3	37	c.628	CCDS11178.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.916430|2.916430	0.52546|0.52546	.|.	.|.	ENSG00000181350|ENSG00000181350	ENST00000470794|ENST00000409083	T|.	0.53857|.	0.6|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	1.562300|1.562300	0.03515|0.03515	N|N	0.220087|0.220087	T|T	0.72890|0.72890	0.3517|0.3517	.|.	.|.	.|.	0.49915|0.49915	D|D	0.999839|0.999839	B|D	0.24186|0.55800	0.099|0.973	B|P	0.26202|0.57009	0.067|0.811	T|T	0.60156|0.60156	-0.7318|-0.7318	9|8	0.41790|0.87932	T|D	0.15|0	.|.	11.9393|11.9393	0.52892|0.52892	0.1736:0.8264:0.0:0.0|0.1736:0.8264:0.0:0.0	.|.	210|171	Q8NAA5|Q8NAA5-2	CQ076_HUMAN|.	C|V	210|171	ENSP00000419502:G210C|.	ENSP00000419502:G210C|ENSP00000386504:G171V	G|G	-|-	1|2	0|0	C17orf76|C17orf76	16288034|16288034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.480000|3.480000	0.53172|0.53172	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	GGC|GGG	FAM211A	-	NULL		0.642	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	FAM211A	HGNC	protein_coding	OTTHUMT00000130461.2	C			16347309	-1	no_errors	ENST00000470794	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM49A	81553	genome.wustl.edu	37	2	16740741	16740741	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:16740741G>A	ENST00000381323.3	-	10	1044	c.824C>T	c.(823-825)aCa>aTa	p.T275I	FAM49A_ENST00000406434.1_Missense_Mutation_p.T275I|FAM49A_ENST00000355549.2_Missense_Mutation_p.T275I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	275						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GATCTTGGATGTCTTGCAGAA	0.478																																																	0													148.0	139.0	142.0					2																	16740741		2203	4300	6503	SO:0001583	missense	81553			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.824C>T	2.37:g.16740741G>A	ENSP00000370724:p.Thr275Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNZ1|Q53QW2	Missense_Mutation	SNP	pfam_DUF1394	p.T275I	ENST00000381323.3	37	c.824	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963802	0.53507	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.47528	0.84;0.84;0.84	5.23	5.23	0.72850	.	0.046786	0.85682	D	0.000000	T	0.54951	0.1890	L	0.56769	1.78	0.54753	D	0.999983	B	0.26483	0.15	B	0.38655	0.278	T	0.55617	-0.8113	10	0.52906	T	0.07	-7.1236	18.1646	0.89721	0.0:0.0:1.0:0.0	.	275	Q9H0Q0	FA49A_HUMAN	I	275	ENSP00000370724:T275I;ENSP00000384771:T275I;ENSP00000347744:T275I	ENSP00000347744:T275I	T	-	2	0	FAM49A	16604222	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	9.808000	0.99193	2.611000	0.88343	0.655000	0.94253	ACA	FAM49A	-	pfam_DUF1394		0.478	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	G	NM_030797		16740741	-1	no_errors	ENST00000355549	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM50A	9130	genome.wustl.edu	37	X	153674233	153674233	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153674233G>A	ENST00000393600.3	+	3	380	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	90					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTGGCCAAGAAGGAGCAGT	0.597																																																	0													61.0	54.0	56.0					X																	153674233		2203	4299	6502	SO:0001819	synonymous_variant	9130			BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.270G>A	X.37:g.153674233G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAQ4|B2R997|Q5HY37|Q6PJH5	Silent	SNP	pfam_XAP5	p.K90	ENST00000393600.3	37	c.270	CCDS14751.1	X																																																																																			FAM50A	-	NULL		0.597	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM50A	HGNC	protein_coding	OTTHUMT00000081643.2	G	NM_004699		153674233	+1	no_errors	ENST00000393600	ensembl	human	known	70_37	silent	SNP	1.000	A
GAREM	64762	genome.wustl.edu	37	18	29867235	29867235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:29867235G>C	ENST00000269209.6	-	4	1328	c.1325C>G	c.(1324-1326)tCa>tGa	p.S442*	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Nonsense_Mutation_p.S442*			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	442					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GATGCCTGCTGATTCTTCACT	0.562																																																	0													106.0	110.0	109.0					18																	29867235		2203	4300	6503	SO:0001587	stop_gained	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1325C>G	18.37:g.29867235G>C	ENSP00000269209:p.Ser442*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Nonsense_Mutation	SNP	superfamily_SAM/pointed	p.S442*	ENST00000269209.6	37	c.1325	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433816	0.62955	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.12	4.25	0.50352	.	0.476398	0.24798	N	0.035503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.8569	10.285	0.43562	0.1507:0.0:0.8493:0.0	.	.	.	.	X	442	.	ENSP00000269209:S442X	S	-	2	0	FAM59A	28121233	1.000000	0.71417	0.103000	0.21229	0.088000	0.18126	4.433000	0.59929	1.534000	0.49203	0.561000	0.74099	TCA	FAM59A	-	NULL		0.562	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	G	NM_022751		29867235	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	nonsense	SNP	0.337	C
FAM76B	143684	genome.wustl.edu	37	11	95521679	95521679	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:95521679C>G	ENST00000358780.5	-	2	448	c.136G>C	c.(136-138)Gaa>Caa	p.E46Q	CEP57_ENST00000325486.5_5'Flank|CEP57_ENST00000537677.1_5'Flank|CEP57_ENST00000538658.1_5'Flank|FAM76B_ENST00000538047.1_5'UTR|FAM76B_ENST00000536839.1_Missense_Mutation_p.E46Q|CEP57_ENST00000325542.5_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	46						nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.E46K(1)		breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTGAAATTCTGATCTGCAG	0.338																																																	1	Substitution - Missense(1)	breast(1)											91.0	89.0	90.0					11																	95521679		1823	4085	5908	SO:0001583	missense	143684				CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.136G>C	11.37:g.95521679C>G	ENSP00000351631:p.Glu46Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIU3|Q8TC53	Missense_Mutation	SNP	NULL	p.E46Q	ENST00000358780.5	37	c.136	CCDS41700.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243416	0.79912	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.69248	2.105	0.80722	D	1	D	0.53619	0.961	P	0.58928	0.848	T	0.78866	-0.2035	9	0.87932	D	0	-28.5124	18.94	0.92601	0.0:1.0:0.0:0.0	.	46	Q5HYJ3	FA76B_HUMAN	Q	46	.	ENSP00000351631:E46Q	E	-	1	0	FAM76B	95161327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.424000	0.80242	2.464000	0.83262	0.561000	0.74099	GAA	FAM76B	-	NULL		0.338	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM76B	HGNC	protein_coding	OTTHUMT00000395969.1	C	NM_144664		95521679	-1	no_errors	ENST00000358780	ensembl	human	known	70_37	missense	SNP	1.000	G
FAT1	2195	genome.wustl.edu	37	4	187629805	187629805	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187629805G>A	ENST00000441802.2	-	2	1386	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	393	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATAAGCAGGAATGGCCTTT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													104.0	98.0	100.0					4																	187629805		1867	4106	5973	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1177C>T	4.37:g.187629805G>A	ENSP00000406229:p.Pro393Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P393S	ENST00000441802.2	37	c.1177	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878570	0.51801	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	D;T	0.82081	-1.57;0.22	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	D	0.88069	0.2799	10	0.46703	T	0.11	.	19.1866	0.93647	0.0:0.0:1.0:0.0	.	393	Q14517	FAT1_HUMAN	S	393	ENSP00000406229:P393S;ENSP00000423736:P393S	ENSP00000260147:P393S	P	-	1	0	FAT1	187866799	1.000000	0.71417	0.170000	0.22879	0.899000	0.52679	9.657000	0.98554	2.769000	0.95229	0.491000	0.48974	CCT	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187629805	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150920207	150920207	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:150920207G>C	ENST00000261800.5	-	10	8972	c.8960C>G	c.(8959-8961)tCt>tGt	p.S2987C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2987	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCATCAGATGCTGTGAC	0.537																																																	0													114.0	93.0	100.0					5																	150920207		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8960C>G	5.37:g.150920207G>C	ENSP00000261800:p.Ser2987Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2987C	ENST00000261800.5	37	c.8960	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064115	0.76187	.	.	ENSG00000086570	ENST00000261800	T	0.01871	4.59	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000022	T	0.12817	0.0311	M	0.70275	2.135	0.50171	D	0.999858	D	0.89917	1.0	D	0.81914	0.995	T	0.00273	-1.1858	10	0.62326	D	0.03	.	18.8671	0.92296	0.0:0.0:1.0:0.0	.	2987	Q9NYQ8	FAT2_HUMAN	C	2987	ENSP00000261800:S2987C	ENSP00000261800:S2987C	S	-	2	0	FAT2	150900400	1.000000	0.71417	0.529000	0.27951	0.925000	0.55904	7.843000	0.86859	2.471000	0.83476	0.563000	0.77884	TCT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150920207	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.979	C
FBXO24	26261	genome.wustl.edu	37	7	100193257	100193257	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:100193257C>T	ENST00000241071.6	+	8	1456	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.I366I|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000427939.2_Silent_p.I416I|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	378					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGGCCGAATCTTCATGCAAG	0.498																																																	0													111.0	104.0	107.0					7																	100193257		2203	4300	6503	SO:0001819	synonymous_variant	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1134C>T	7.37:g.100193257C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.I416	ENST00000241071.6	37	c.1248	CCDS5698.1	7																																																																																			FBXO24	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.498	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100193257	+1	no_errors	ENST00000427939	ensembl	human	known	70_37	silent	SNP	1.000	T
FDXACB1	91893	genome.wustl.edu	37	11	111746780	111746780	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:111746780C>T	ENST00000260257.4	-	5	788	c.741G>A	c.(739-741)gaG>gaA	p.E247E	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_5'UTR|C11orf1_ENST00000528125.1_5'Flank|FDXACB1_ENST00000542429.1_Silent_p.E98E	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	247					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						CAATGAGTTTCTCATTTATGG	0.383																																																	0													118.0	112.0	114.0					11																	111746780		1834	4083	5917	SO:0001819	synonymous_variant	91893				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.741G>A	11.37:g.111746780C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.E247	ENST00000260257.4	37	c.741	CCDS44729.1	11																																																																																			FDXACB1	-	NULL		0.383	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	C	NM_138378		111746780	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	silent	SNP	1.000	T
FER1L6	654463	genome.wustl.edu	37	8	124998367	124998367	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:124998367G>C	ENST00000522917.1	+	12	1676	c.1470G>C	c.(1468-1470)atG>atC	p.M490I	FER1L6_ENST00000399018.1_Missense_Mutation_p.M490I|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	490						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCTACCATGATTGACCGGA	0.358																																																	0													115.0	107.0	109.0					8																	124998367		1817	4072	5889	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1470G>C	8.37:g.124998367G>C	ENSP00000428280:p.Met490Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.M490I	ENST00000522917.1	37	c.1470	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167079	0.78339	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.91124	-2.79;-2.79	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	D	0.93298	0.7864	M	0.88105	2.93	0.80722	D	1	P	0.48294	0.908	B	0.43950	0.437	D	0.94587	0.7784	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	490	Q2WGJ9	FR1L6_HUMAN	I	490	ENSP00000428280:M490I;ENSP00000381982:M490I	ENSP00000381982:M490I	M	+	3	0	FER1L6	125067548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.747000	0.98863	2.568000	0.86640	0.650000	0.86243	ATG	FER1L6	-	NULL		0.358	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		124998367	+1	no_errors	ENST00000399018	ensembl	human	known	70_37	missense	SNP	1.000	C
FER1L6	654463	genome.wustl.edu	37	8	124998376	124998376	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:124998376G>A	ENST00000522917.1	+	12	1685	c.1479G>A	c.(1477-1479)cgG>cgA	p.R493R	FER1L6_ENST00000399018.1_Silent_p.R493R|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	493						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATTGACCGGAAGATTGGAG	0.348																																																	0													115.0	107.0	109.0					8																	124998376		1822	4079	5901	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1479G>A	8.37:g.124998376G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R493	ENST00000522917.1	37	c.1479	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.348	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		124998376	+1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	1.000	A
FGFR4	2264	genome.wustl.edu	37	5	176524393	176524393	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176524393G>A	ENST00000292408.4	+	17	2499	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	FGFR4_ENST00000393637.1_Missense_Mutation_p.E712K|FGFR4_ENST00000502906.1_Missense_Mutation_p.E752K|FGFR4_ENST00000393648.2_Missense_Mutation_p.E684K|FGFR4_ENST00000292410.3_Missense_Mutation_p.E712K	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGCCGTCTCTGAGGAGGTACA	0.687										TSP Lung(9;0.080)																																							0													36.0	36.0	36.0					5																	176524393		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2254G>A	5.37:g.176524393G>A	ENSP00000292408:p.Glu752Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E752K	ENST00000292408.4	37	c.2254	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311877	0.60414	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.78816	-1.21;-1.12;-1.21;-1.17;-1.17	4.63	4.63	0.57726	Protein kinase, catalytic domain (1);	0.099914	0.64402	D	0.000002	T	0.67618	0.2912	N	0.21324	0.655	0.51482	D	0.999927	B;P;P	0.48162	0.33;0.686;0.906	B;B;B	0.40375	0.041;0.127;0.327	T	0.74937	-0.3494	10	0.72032	D	0.01	.	17.1053	0.86660	0.0:0.0:1.0:0.0	.	684;712;752	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	K	752;684;752;712;712;980	ENSP00000292408:E752K;ENSP00000377259:E684K;ENSP00000424960:E752K;ENSP00000292410:E712K;ENSP00000377254:E712K	ENSP00000292408:E752K	E	+	1	0	FGFR4	176456999	0.999000	0.42202	0.998000	0.56505	0.648000	0.38561	2.846000	0.48262	2.125000	0.65367	0.313000	0.20887	GAG	FGFR4	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.687	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	G			176524393	+1	no_errors	ENST00000292408	ensembl	human	known	70_37	missense	SNP	0.998	A
FLG	2312	genome.wustl.edu	37	1	152278472	152278472	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:152278472C>T	ENST00000368799.1	-	3	8925	c.8890G>A	c.(8890-8892)Gca>Aca	p.A2964T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2964	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGATGCAGCCTGTCCA	0.557									Ichthyosis																																								0													11.0	15.0	14.0					1																	152278472		1308	3534	4842	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8890G>A	1.37:g.152278472C>T	ENSP00000357789:p.Ala2964Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.A2964T	ENST00000368799.1	37	c.8890	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629822	0.28978	.	.	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.48	1.53	0.23141	.	.	.	.	.	T	0.00412	0.0013	M	0.68317	2.08	0.09310	N	1	B	0.19935	0.04	B	0.12156	0.007	T	0.45396	-0.9264	9	0.17832	T	0.49	.	4.3628	0.11210	0.0:0.6294:0.238:0.1326	.	2964	P20930	FILA_HUMAN	T	2964	ENSP00000357789:A2964T	ENSP00000357789:A2964T	A	-	1	0	FLG	150545096	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.063000	0.11655	0.798000	0.33994	0.298000	0.19748	GCA	FLG	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152278472	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
DBNL	28988	genome.wustl.edu	37	7	44081437	44081437	+	5'Flank	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:44081437G>A	ENST00000448521.1	+	0	0				LINC00957_ENST00000441052.1_lincRNA|DBNL_ENST00000452943.1_5'Flank|DBNL_ENST00000440166.1_5'Flank|DBNL_ENST00000456905.1_5'Flank|RASA4CP_ENST00000446874.1_RNA|DBNL_ENST00000468694.1_5'Flank|DBNL_ENST00000490734.2_5'Flank|DBNL_ENST00000494774.1_5'Flank	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ctcaCCTTCAGAAAAGACTCC	0.473																																					NSCLC(68;573 1327 18604 34760 37992)												0																																										SO:0001631	upstream_gene_variant	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350		7.37:g.44081437G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			AC017116.8	-	-		0.473	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLJ35390	Clone_based_vega_gene	protein_coding	OTTHUMT00000339572.2	G	NM_014063		44081437	+1	no_errors	ENST00000441052	ensembl	human	known	70_37	rna	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128488853	128488853	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:128488853G>A	ENST00000325888.8	+	28	5005	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1582K|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1582					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAGGACCCCGAGGGTAAGCC	0.602																																																	0													94.0	109.0	104.0					7																	128488853		2081	4196	6277	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4744G>A	7.37:g.128488853G>A	ENSP00000327145:p.Glu1582Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1582K	ENST00000325888.8	37	c.4744	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.228332	0.95173	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91740	-2.9;-2.9	5.09	5.09	0.68999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	N	0.16478	0.41	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.85130	0.997;0.939	D	0.94306	0.7541	10	0.72032	D	0.01	.	18.8541	0.92244	0.0:0.0:1.0:0.0	.	1582;1582	Q14315-2;Q14315	.;FLNC_HUMAN	K	1582	ENSP00000327145:E1582K;ENSP00000344002:E1582K	ENSP00000327145:E1582K	E	+	1	0	FLNC	128276089	1.000000	0.71417	0.992000	0.48379	0.723000	0.41478	9.810000	0.99221	2.513000	0.84729	0.655000	0.94253	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128488853	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128492756	128492756	+	Missense_Mutation	SNP	C	C	T	rs200415625		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:128492756C>T	ENST00000325888.8	+	36	6215	c.5954C>T	c.(5953-5955)tCg>tTg	p.S1985L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1952L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1985					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.S1985L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTGCCCCCTCGGGCAACGAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17902	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						C	LEU/SER,LEU/SER	0,4074		0,0,2037	39.0	44.0	42.0		5855,5954	6.0	0.8	7		42	7,8367		0,7,4180	yes	missense,missense	FLNC	NM_001127487.1,NM_001458.4	145,145	0,7,6217	TT,TC,CC		0.0836,0.0,0.0562	probably-damaging,probably-damaging	1952/2693,1985/2726	128492756	7,12441	2037	4187	6224	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5954C>T	7.37:g.128492756C>T	ENSP00000327145:p.Ser1985Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1985L	ENST00000325888.8	37	c.5954	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.566254	0.96540	0.0	8.36E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.51325	0.71;0.71	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78672	0.4320	M	0.93763	3.455	0.58432	D	0.999998	P;D	0.89917	0.948;1.0	P;D	0.79784	0.643;0.993	T	0.83066	-0.0145	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1952;1985	Q14315-2;Q14315	.;FLNC_HUMAN	L	1985;1952	ENSP00000327145:S1985L;ENSP00000344002:S1952L	ENSP00000327145:S1985L	S	+	2	0	FLNC	128279992	1.000000	0.71417	0.798000	0.32154	0.855000	0.48748	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128492756	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	1.000	T
FLT3	2322	genome.wustl.edu	37	13	28608102	28608102	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:28608102C>T	ENST00000241453.7	-	15	1945	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	FLT3_ENST00000537084.1_Missense_Mutation_p.G622R|FLT3_ENST00000380982.4_Missense_Mutation_p.G622R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ATCACTTTTCCAAAAGCACCT	0.413			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													267.0	243.0	251.0					13																	28608102		2203	4300	6503	SO:0001583	missense	2322			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.1864G>A	13.37:g.28608102C>T	ENSP00000241453:p.Gly622Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G622R	ENST00000241453.7	37	c.1864	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766441	0.90020	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.95103	-3.61;-3.61;-3.61	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.98178	0.9398	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.98528	1.0626	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	622;622	P36888-2;P36888	.;FLT3_HUMAN	R	622	ENSP00000241453:G622R;ENSP00000370369:G622R;ENSP00000438139:G622R	ENSP00000241453:G622R	G	-	1	0	FLT3	27506102	1.000000	0.71417	0.981000	0.43875	0.760000	0.43138	7.183000	0.77697	2.814000	0.96858	0.655000	0.94253	GGA	FLT3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	C			28608102	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	missense	SNP	1.000	T
FOLR1	2348	genome.wustl.edu	37	11	71907080	71907080	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:71907080G>C	ENST00000393679.1	+	5	1069	c.633G>C	c.(631-633)caG>caC	p.Q211H	FOLR1_ENST00000312293.4_Missense_Mutation_p.Q211H|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.Q211H|FOLR1_ENST00000393681.2_Missense_Mutation_p.Q211H			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	211					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCTGCATCCAGATGTGGTTCG	0.592																																																	0													90.0	80.0	83.0					11																	71907080		2200	4293	6493	SO:0001583	missense	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.633G>C	11.37:g.71907080G>C	ENSP00000377284:p.Gln211His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.Q211H	ENST00000393679.1	37	c.633	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	g	18.96	3.733356	0.69189	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.11	3.19	0.36642	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	M	0.92833	3.35	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	D	0.89225	0.3573	10	0.62326	D	0.03	-7.3689	9.5179	0.39117	0.1047:0.0:0.8953:0.0	.	211	P15328	FOLR1_HUMAN	H	211	ENSP00000308137:Q211H;ENSP00000377286:Q211H;ENSP00000377284:Q211H;ENSP00000377281:Q211H	ENSP00000308137:Q211H	Q	+	3	2	FOLR1	71584728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.879000	0.48522	1.060000	0.40578	0.563000	0.77884	CAG	FOLR1	-	pfam_Folate_rcpt-like		0.592	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	G	NM_016725		71907080	+1	no_errors	ENST00000312293	ensembl	human	known	70_37	missense	SNP	1.000	C
FRY	10129	genome.wustl.edu	37	13	32805362	32805362	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:32805362C>G	ENST00000380250.3	+	41	5948	c.5452C>G	c.(5452-5454)Caa>Gaa	p.Q1818E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1818						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333																																																	0													159.0	142.0	147.0					13																	32805362		1869	4099	5968	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5452C>G	13.37:g.32805362C>G	ENSP00000369600:p.Gln1818Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1818E	ENST00000380250.3	37	c.5452	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473626	0.63737	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21031	2.03	5.76	5.76	0.90799	.	0.215022	0.42053	D	0.000778	T	0.17874	0.0429	N	0.22421	0.69	0.80722	D	1	B	0.25351	0.124	B	0.34346	0.18	T	0.03231	-1.1058	10	0.02654	T	1	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	1818	Q5TBA9	FRY_HUMAN	E	1818;655	ENSP00000369600:Q1818E	ENSP00000369600:Q1818E	Q	+	1	0	FRY	31703362	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.484000	0.81180	2.713000	0.92767	0.585000	0.79938	CAA	FRY	-	NULL		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32805362	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	G
FRYL	285527	genome.wustl.edu	37	4	48555334	48555334	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:48555334C>T	ENST00000503238.1	-	33	4332	c.4333G>A	c.(4333-4335)Gag>Aag	p.E1445K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E1445K|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E1445K|FRYL_ENST00000507711.1_Missense_Mutation_p.E1445K			O94915	FRYL_HUMAN	FRY-like	1445					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						AGCTGAAGCTCACTCACCAGC	0.428																																																	0													108.0	113.0	112.0					4																	48555334		1889	4125	6014	SO:0001583	missense	285527			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.4333G>A	4.37:g.48555334C>T	ENSP00000426064:p.Glu1445Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1445K	ENST00000503238.1	37	c.4333	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.259361	0.95368	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.52057	1.61;1.61;1.61;0.68	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.979;0.996;1.0;1.0	D;D;D;D	0.91635	0.973;0.951;0.988;0.999	T	0.70967	-0.4728	10	0.52906	T	0.07	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1445;276;1445;1445	F2Z2S2;Q6ZR29;O94915;F5GX82	.;.;FRYL_HUMAN;.	K	1445	ENSP00000426064:E1445K;ENSP00000351113:E1445K;ENSP00000441114:E1445K;ENSP00000421584:E1445K	ENSP00000351113:E1445K	E	-	1	0	FRYL	48250091	1.000000	0.71417	0.875000	0.34327	0.540000	0.34992	7.461000	0.80834	2.882000	0.98803	0.655000	0.94253	GAG	FRYL	-	superfamily_ARM-type_fold		0.428	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	C			48555334	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	T
G6PC	2538	genome.wustl.edu	37	17	41062954	41062954	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41062954C>T	ENST00000253801.2	+	5	664	c.585C>T	c.(583-585)ttC>ttT	p.F195F	G6PC_ENST00000592383.1_Nonsense_Mutation_p.Q170*|G6PC_ENST00000585489.1_Nonsense_Mutation_p.Q157*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	195					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGAAACTTTCAGCCACATCC	0.463																																																	0													97.0	77.0	84.0					17																	41062954		2203	4300	6503	SO:0001819	synonymous_variant	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.585C>T	17.37:g.41062954C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C0|B4E1C3|K7EL82	Nonsense_Mutation	SNP	NULL	p.Q170*	ENST00000253801.2	37	c.508	CCDS11446.1	17																																																																																			G6PC	-	NULL		0.463	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	C	NM_000151		41062954	+1	no_errors	ENST00000592383	ensembl	human	putative	70_37	nonsense	SNP	0.999	T
GAA	2548	genome.wustl.edu	37	17	78078917	78078917	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:78078917C>T	ENST00000302262.3	+	2	751	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	GAA_ENST00000390015.3_Missense_Mutation_p.R178C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	178					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.R178C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GACTGAGAACCGCCTCCACTT	0.672																																																	1	Substitution - Missense(1)	central_nervous_system(1)											29.0	25.0	26.0					17																	78078917		2131	4192	6323	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.532C>T	17.37:g.78078917C>T	ENSP00000305692:p.Arg178Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R178C	ENST00000302262.3	37	c.532	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639294	0.47153	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.81739	-1.53;-1.53	4.85	4.85	0.62838	Glycoside hydrolase-type carbohydrate-binding (1);	0.126303	0.53938	D	0.000043	T	0.80984	0.4729	M	0.87269	2.87	0.50171	D	0.999859	P	0.41947	0.766	B	0.37346	0.247	D	0.83786	0.0228	10	0.56958	D	0.05	-33.5955	10.6769	0.45792	0.3099:0.6901:0.0:0.0	.	178	P10253	LYAG_HUMAN	C	178	ENSP00000305692:R178C;ENSP00000374665:R178C	ENSP00000305692:R178C	R	+	1	0	GAA	75693512	0.061000	0.20836	0.966000	0.40874	0.932000	0.56968	0.450000	0.21762	2.231000	0.72958	0.591000	0.81541	CGC	GAA	-	superfamily_Glyco_hydro-type_carb-bd		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78078917	+1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	0.897	T
GABRD	2563	genome.wustl.edu	37	1	1961453	1961453	+	Missense_Mutation	SNP	C	C	T	rs142619552		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1961453C>T	ENST00000378585.4	+	9	1174	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	364					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S364F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCTCTTCTCCCTCTCTGCT	0.692																																																	1	Substitution - Missense(1)	skin(1)											49.0	48.0	48.0					1																	1961453		2202	4287	6489	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1091C>T	1.37:g.1961453C>T	ENSP00000367848:p.Ser364Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4N9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S364F	ENST00000378585.4	37	c.1091	CCDS36.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032778	0.75504	.	.	ENSG00000187730	ENST00000378585	D	0.85702	-2.02	3.82	3.82	0.43975	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.282561	0.35291	N	0.003319	D	0.88020	0.6325	L	0.53249	1.67	0.58432	D	0.999996	D	0.61080	0.989	P	0.58331	0.837	D	0.89215	0.3567	10	0.72032	D	0.01	-23.6599	13.3928	0.60832	0.0:1.0:0.0:0.0	.	364	O14764	GBRD_HUMAN	F	364	ENSP00000367848:S364F	ENSP00000367848:S364F	S	+	2	0	GABRD	1951313	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	7.015000	0.76387	2.145000	0.66743	0.491000	0.48974	TCC	GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961453	+1	no_errors	ENST00000378585	ensembl	human	known	70_37	missense	SNP	1.000	T
GABRD	2563	genome.wustl.edu	37	1	1961472	1961472	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1961472C>T	ENST00000378585.4	+	9	1193	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	370					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGCCGGCGTCACGCAGGAGC	0.677																																																	0													37.0	38.0	38.0					1																	1961472		2201	4291	6492	SO:0001819	synonymous_variant	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1110C>T	1.37:g.1961472C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V370	ENST00000378585.4	37	c.1110	CCDS36.1	1																																																																																			GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt		0.677	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	C	NM_000815		1961472	+1	no_errors	ENST00000378585	ensembl	human	known	70_37	silent	SNP	0.999	T
GART	2618	genome.wustl.edu	37	21	34883749	34883749	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:34883749C>T	ENST00000381831.3	-	17	2387	c.2124G>A	c.(2122-2124)agG>agA	p.R708R	GART_ENST00000543717.1_Silent_p.R260R|GART_ENST00000381839.3_Silent_p.R708R|GART_ENST00000381815.4_Silent_p.R708R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	708	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|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)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCCTGGGGATCCTCCAGGTCT	0.453																																																	0													142.0	148.0	146.0					21																	34883749		2203	4300	6503	SO:0001819	synonymous_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2124G>A	21.37:g.34883749C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.R708	ENST00000381831.3	37	c.2124	CCDS13627.1	21																																																																																			GART	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase		0.453	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	C	NM_000819		34883749	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	silent	SNP	1.000	T
GATC	283459	genome.wustl.edu	37	12	120894893	120894893	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:120894893G>C	ENST00000551806.1	+	4	363	c.363G>C	c.(361-363)gaG>gaC	p.E121D	GATC_ENST00000551765.1_Missense_Mutation_p.R90T																							CTATACCTGAGATCCGACAAT	0.512											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122.0	101.0	108.0					12																	120894893		2203	4300	6503	SO:0001583	missense	283459																														ENST00000551806.1:c.363G>C	12.37:g.120894893G>C	ENSP00000450281:p.Glu121Asp	Somatic	1507	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.R90T	ENST00000551806.1	37	c.269		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.955943|3.955943	0.73902|0.73902	.|.	.|.	ENSG00000111780|ENSG00000257218	ENST00000551806|ENST00000551765;ENST00000229384	.|T	.|0.60171	.|0.21	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79347|0.79347	0.4430|0.4430	M|M	0.90145|0.90145	3.09|3.09	0.47819|0.47819	D|D	0.999523|0.999523	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.83343|0.83343	-0.0007|-0.0007	5|10	.|0.87932	.|D	.|0	-7.8243|-7.8243	13.1322|13.1322	0.59389|0.59389	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|90	.|O43716	.|GATC_HUMAN	D|T	121|90;13	.|ENSP00000446872:R90T	.|ENSP00000229384:R13T	E|R	+|+	3|2	2|0	GATC|AL021546.1	119379276|119379276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.255000|5.255000	0.65462|0.65462	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	GAG|AGA	GATC	-	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu		0.512	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000403635.1	G			120894893	+1	no_errors	ENST00000551765	ensembl	human	known	70_37	missense	SNP	0.999	C
GCSAM	257144	genome.wustl.edu	37	3	111845843	111845843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:111845843G>A	ENST00000308910.4	-	4	365	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Nonsense_Mutation_p.Q63*	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	61					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CTTTCGTTTTGGGAATCTTGC	0.318																																																	0													69.0	77.0	74.0					3																	111845843		2202	4299	6501	SO:0001587	stop_gained	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.181C>T	3.37:g.111845843G>A	ENSP00000309487:p.Gln61*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD17|C9JUG6	Nonsense_Mutation	SNP	NULL	p.Q61*	ENST00000308910.4	37	c.181	CCDS2964.1	3	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958828	0.53400	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.79	2.94	0.34122	.	1.478470	0.04220	N	0.333358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9897	7.9982	0.30280	0.0:0.1758:0.6416:0.1825	.	.	.	.	X	61;63;46;44;44	.	ENSP00000309487:Q61X	Q	-	1	0	GCET2	113328533	0.003000	0.15002	0.001000	0.08648	0.090000	0.18270	0.953000	0.29162	0.893000	0.36288	0.655000	0.94253	CAA	GCSAM	-	NULL		0.318	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GCSAM	HGNC	protein_coding	OTTHUMT00000353967.2	G	NM_152785		111845843	-1	no_errors	ENST00000308910	ensembl	human	known	70_37	nonsense	SNP	0.001	A
GDAP1L1	78997	genome.wustl.edu	37	20	42907817	42907817	+	Silent	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907817C>A	ENST00000342560.5	+	6	1069	c.981C>A	c.(979-981)atC>atA	p.I327I	GDAP1L1_ENST00000537864.1_Silent_p.I135I	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	327	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCGTCATCCCCAATGCTT	0.607																																																	0													136.0	120.0	125.0					20																	42907817		2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.981C>A	20.37:g.42907817C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.I327	ENST00000342560.5	37	c.981	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.607	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907817	+1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	1.000	A
GDAP1L1	78997	genome.wustl.edu	37	20	42907862	42907862	+	Silent	SNP	C	C	T	rs201869807		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907862C>T	ENST00000342560.5	+	6	1114	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GDAP1L1_ENST00000537864.1_Silent_p.F150F	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	342										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CATCCTTCTTCGGGGCGTCCT	0.582																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	125.0	114.0	118.0		1026	-4.0	0.9	20		118	0,8600		0,0,4300	no	coding-synonymous	GDAP1L1	NM_024034.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		342/368	42907862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1026C>T	20.37:g.42907862C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.F342	ENST00000342560.5	37	c.1026	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.582	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907862	+1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	0.975	T
GGT7	2686	genome.wustl.edu	37	20	33440300	33440300	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:33440300G>A	ENST00000336431.5	-	11	1405	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	454					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTGCCTGGGAGTCATTGAT	0.587																																																	0													44.0	47.0	46.0					20																	33440300		2203	4300	6503	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1361C>T	20.37:g.33440300G>A	ENSP00000338964:p.Ser454Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.S454F	ENST00000336431.5	37	c.1361	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	G	31	5.089672	0.94149	.	.	ENSG00000131067	ENST00000336431	T	0.07327	3.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	T	0.00015	-1.2392	10	0.62326	D	0.03	-20.4982	20.8794	0.99867	0.0:0.0:1.0:0.0	.	454;454	A4FU32;Q9UJ14	.;GGT7_HUMAN	F	454	ENSP00000338964:S454F	ENSP00000338964:S454F	S	-	2	0	GGT7	32903961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.754000	0.91642	2.941000	0.99782	0.655000	0.94253	TCC	GGT7	-	pfam_GGT_peptidase		0.587	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	G	NM_178026		33440300	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	missense	SNP	1.000	A
GDAP1L1	78997	genome.wustl.edu	37	20	42907877	42907877	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:42907877C>G	ENST00000342560.5	+	6	1129	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	GDAP1L1_ENST00000537864.1_Silent_p.L155L	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	347										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCCTTCCTCATGGGCTCCC	0.587																																																	0													122.0	112.0	115.0					20																	42907877		2203	4300	6503	SO:0001819	synonymous_variant	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1041C>G	20.37:g.42907877C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.L347	ENST00000342560.5	37	c.1041	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL		0.587	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1	C	NM_024034		42907877	+1	no_errors	ENST00000342560	ensembl	human	known	70_37	silent	SNP	1.000	G
GIP	2695	genome.wustl.edu	37	17	47038294	47038294	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:47038294C>G	ENST00000357424.2	-	5	506	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	136					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						GCCAACAGCTCTTGAATCAGC	0.537																																																	0													68.0	55.0	59.0					17																	47038294		2203	4300	6503	SO:0001583	missense	2695				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.406G>C	17.37:g.47038294C>G	ENSP00000350005:p.Glu136Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.E136Q	ENST00000357424.2	37	c.406	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944032	0.34283	.	.	ENSG00000159224	ENST00000357424	T	0.29397	1.57	4.46	1.42	0.22433	.	0.328574	0.25753	N	0.028521	T	0.19087	0.0458	L	0.29908	0.895	0.28107	N	0.931171	P	0.48162	0.906	B	0.41571	0.36	T	0.09378	-1.0677	10	0.42905	T	0.14	-13.5963	6.5566	0.22464	0.0:0.7034:0.0:0.2966	.	136	P09681	GIP_HUMAN	Q	136	ENSP00000350005:E136Q	ENSP00000350005:E136Q	E	-	1	0	GIP	44393293	0.480000	0.25933	0.687000	0.30102	0.351000	0.29236	0.530000	0.23036	0.392000	0.25172	-0.156000	0.13503	GAG	GIP	-	NULL		0.537	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	C	NM_004123		47038294	-1	no_errors	ENST00000357424	ensembl	human	known	70_37	missense	SNP	0.802	G
GLDN	342035	genome.wustl.edu	37	15	51696532	51696532	+	Missense_Mutation	SNP	G	G	A	rs376274659		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:51696532G>A	ENST00000335449.6	+	10	1293	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	GLDN_ENST00000396399.2_Missense_Mutation_p.D289N	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	413	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)				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)		CTTGTATTTTGATCGAAAATA	0.378																																																	0													130.0	138.0	135.0					15																	51696532		2196	4293	6489	SO:0001583	missense	342035			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.1237G>A	15.37:g.51696532G>A	ENSP00000335196:p.Asp413Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.D413N	ENST00000335449.6	37	c.1237	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247530	0.22880	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88818	-2.43;-2.43	5.71	5.71	0.89125	Olfactomedin-like (3);	0.153654	0.30277	N	0.009990	T	0.70176	0.3194	N	0.01454	-0.855	0.37541	D	0.918314	B	0.14012	0.009	B	0.17098	0.017	T	0.69529	-0.5121	10	0.06625	T	0.88	.	13.1002	0.59216	0.073:0.0:0.927:0.0	.	413	Q6ZMI3	GLDN_HUMAN	N	413;289;289	ENSP00000335196:D413N;ENSP00000379681:D289N	ENSP00000335196:D413N	D	+	1	0	GLDN	49483824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.929000	0.63455	2.711000	0.92665	0.563000	0.77884	GAT	GLDN	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	G	NM_181789		51696532	+1	no_errors	ENST00000335449	ensembl	human	known	70_37	missense	SNP	1.000	A
GLRA4	441509	genome.wustl.edu	37	X	102968492	102968492	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:102968492T>C	ENST00000372617.4	-	8	1459	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	347						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGAATTCTTTATGCTGACGA	0.507																																																	0													86.0	81.0	83.0					X																	102968492		2203	4300	6503	SO:0001583	missense	441509			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1039A>G	X.37:g.102968492T>C	ENSP00000361700:p.Lys347Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.K347E	ENST00000372617.4	37	c.1039	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753708	0.89753	.	.	ENSG00000188828	ENST00000372617	D	0.86164	-2.08	5.66	5.66	0.87406	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.095385	0.64402	D	0.000001	D	0.89853	0.6835	L	0.56396	1.775	0.80722	D	1	B	0.31859	0.343	P	0.50049	0.629	D	0.86484	0.1793	10	0.22706	T	0.39	.	12.6879	0.56958	0.0:0.0:0.0:1.0	.	347	Q5JXX5	GLRA4_HUMAN	E	347	ENSP00000361700:K347E	ENSP00000361700:K347E	K	-	1	0	GLRA4	102855148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	1.902000	0.55061	0.425000	0.28330	AAA	GLRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A,tigrfam_Neur_channel		0.507	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	T	NM_001024452		102968492	-1	no_errors	ENST00000372617	ensembl	human	known	70_37	missense	SNP	1.000	C
GMPS	8833	genome.wustl.edu	37	3	155654232	155654232	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:155654232G>A	ENST00000496455.2	+	15	2248	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	GMPS_ENST00000295920.7_Missense_Mutation_p.R539Q	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	638					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)	GTGGTTATTCGAACCTTTATT	0.418			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													139.0	131.0	133.0					3																	155654232		1857	4100	5957	SO:0001583	missense	8833			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.1913G>A	3.37:g.155654232G>A	ENSP00000419851:p.Arg638Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,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.R638Q	ENST00000496455.2	37	c.1913	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.775356	0.96922	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.53	5.53	0.82687	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90717	0.4632	9	0.87932	D	0	-8.3422	19.4655	0.94935	0.0:0.0:1.0:0.0	.	539;638	F8W720;P49915	.;GUAA_HUMAN	Q	638;539;587;638	.	ENSP00000295920:R539Q	R	+	2	0	GMPS	157136926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.303000	0.96183	2.580000	0.87095	0.561000	0.74099	CGA	GMPS	-	pfam_GMP_synth_C		0.418	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	G			155654232	+1	no_errors	ENST00000496455	ensembl	human	known	70_37	missense	SNP	1.000	A
GOLGA8H	728498	genome.wustl.edu	37	15	30902545	30902545	+	Missense_Mutation	SNP	G	G	A	rs542233107		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:30902545G>A	ENST00000566740.1	+	11	827	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	RP11-932O9.8_ENST00000602595.1_RNA|RN7SL628P_ENST00000473920.2_RNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H	276						Golgi apparatus (GO:0005794)											GATATGCGTCGGGTAGAGAAG	0.547													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20853	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	728498				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.827G>A	15.37:g.30902545G>A	ENSP00000456894:p.Arg276Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R276Q	ENST00000566740.1	37	c.827		15																																																																																			GOLGA8H	-	NULL		0.547	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8H	HGNC	protein_coding	OTTHUMT00000430724.1	G	XM_001724395		30902545	+1	no_errors	ENST00000566740	ensembl	human	novel	70_37	missense	SNP	0.628	A
GPC3	2719	genome.wustl.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:132833993G>A	ENST00000370818.3	-	4	1541	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	GPC3_ENST00000394299.2_Missense_Mutation_p.L389F|GPC3_ENST00000543339.1_Missense_Mutation_p.L312F	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													77.0	72.0	74.0					X																	132833993		2203	4296	6499	SO:0001583	missense	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>T	X.37:g.132833993G>A	ENSP00000359854:p.Leu366Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	pfam_Glypican	p.L389F	ENST00000370818.3	37	c.1165	CCDS14638.1	X	.	.	.	.	.	.	.	.	.	.	G	5.376	0.254615	0.10185	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50277	0.75;0.75;0.75	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.24353	0.0590	N	0.12182	0.205	0.31273	N	0.691508	B;B;B;B	0.13145	0.005;0.007;0.002;0.003	B;B;B;B	0.15052	0.012;0.009;0.012;0.012	T	0.22208	-1.0223	10	0.09590	T	0.72	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	F	366;389;312	ENSP00000359854:L366F;ENSP00000377836:L389F;ENSP00000444222:L312F	ENSP00000359854:L366F	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC	GPC3	-	pfam_Glypican		0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	G	NM_004484		132833993	-1	no_errors	ENST00000394299	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR112	139378	genome.wustl.edu	37	X	135431678	135431678	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:135431678C>T	ENST00000394143.1	+	6	6104	c.5813C>T	c.(5812-5814)tCa>tTa	p.S1938L	GPR112_ENST00000394141.1_Missense_Mutation_p.S1733L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1733L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1875L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1938L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1938					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGGCAATGTCATCAATTCCT	0.423																																																	0													127.0	120.0	123.0					X																	135431678		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5813C>T	X.37:g.135431678C>T	ENSP00000377699:p.Ser1938Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1938L	ENST00000394143.1	37	c.5813	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	10.52	1.372447	0.24857	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34667	1.39;1.39;1.35;1.49;1.35	3.94	3.07	0.35406	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	B;B;P	0.43477	0.123;0.123;0.808	B;B;B	0.33295	0.038;0.038;0.161	T	0.06144	-1.0843	9	0.29301	T	0.29	.	7.2634	0.26216	0.0:0.867:0.0:0.133	.	1875;1733;1938	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1938;1938;1733;1875;1733	ENSP00000377699:S1938L;ENSP00000359686:S1938L;ENSP00000416526:S1733L;ENSP00000287534:S1875L;ENSP00000377697:S1733L	ENSP00000287534:S1875L	S	+	2	0	GPR112	135259344	0.180000	0.23148	0.027000	0.17364	0.065000	0.16274	1.969000	0.40510	0.629000	0.30376	0.530000	0.56133	TCA	GPR112	-	NULL		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135431678	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.023	T
GPR123	84435	genome.wustl.edu	37	10	134942343	134942343	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:134942343G>A	ENST00000392607.3	+	7	1447	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	GPR123_ENST00000607359.1_Silent_p.A1056A|GPR123_ENST00000392606.2_Silent_p.A240A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	337					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACGGGGCCGCGCTGGGCCGCG	0.746																																																	0													7.0	8.0	8.0					10																	134942343		2001	3911	5912	SO:0001819	synonymous_variant	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1011G>A	10.37:g.134942343G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.A241	ENST00000392607.3	37	c.723	CCDS41580.1	10																																																																																			GPR123	-	NULL		0.746	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	G			134942343	+1	no_errors	ENST00000392606	ensembl	human	putative	70_37	silent	SNP	0.053	A
GPR64	10149	genome.wustl.edu	37	X	19032054	19032054	+	Silent	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:19032054T>C	ENST00000379869.3	-	16	1012	c.849A>G	c.(847-849)ccA>ccG	p.P283P	GPR64_ENST00000356606.4_Silent_p.P269P|GPR64_ENST00000340581.3_Silent_p.P253P|GPR64_ENST00000379873.2_Silent_p.P283P|GPR64_ENST00000357544.3_Silent_p.P253P|GPR64_ENST00000379876.1_Silent_p.P259P|GPR64_ENST00000360279.4_Silent_p.P261P|GPR64_ENST00000379878.3_Silent_p.P267P|GPR64_ENST00000357991.3_Silent_p.P280P|GPR64_ENST00000354791.3_Silent_p.P267P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	283					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)					GTGAATAATCTGGAGGCTCAG	0.557																																																	0													109.0	108.0	108.0					X																	19032054		2203	4300	6503	SO:0001819	synonymous_variant	10149			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.849A>G	X.37:g.19032054T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	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.P283	ENST00000379869.3	37	c.849	CCDS43923.1	X																																																																																			GPR64	-	NULL		0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	T			19032054	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	silent	SNP	0.000	C
GPR98	84059	genome.wustl.edu	37	5	90106537	90106537	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:90106537G>C	ENST00000405460.2	+	74	15556	c.15460G>C	c.(15460-15462)Gaa>Caa	p.E5154Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E815Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5154					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)		CATTCCTGTAGAAACTGAATC	0.463																																																	0													191.0	189.0	189.0					5																	90106537		2035	4197	6232	SO:0001583	missense	84059			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.15460G>C	5.37:g.90106537G>C	ENSP00000384582:p.Glu5154Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E5154Q	ENST00000405460.2	37	c.15460	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491443	0.26774	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.30182	1.59;1.54	5.37	1.49	0.22878	.	1.023770	0.07771	N	0.951724	T	0.23572	0.0570	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13145	0.004;0.002;0.007	B;B;B	0.16289	0.006;0.004;0.015	T	0.30149	-0.9988	9	.	.	.	.	4.4743	0.11727	0.2695:0.1643:0.5663:0.0	.	815;5154;815	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5154;5154;815	ENSP00000384582:E5154Q;ENSP00000392618:E815Q	.	E	+	1	0	GPR98	90142293	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	0.315000	0.19451	0.324000	0.23333	0.563000	0.77884	GAA	GPR98	-	NULL		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90106537	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.000	C
GPRASP1	9737	genome.wustl.edu	37	X	101910559	101910559	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101910559G>A	ENST00000361600.5	+	5	2519	c.1718G>A	c.(1717-1719)gGa>gAa	p.G573E	GPRASP1_ENST00000537097.1_Missense_Mutation_p.G573E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G573E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G573E	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	573	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAGGCCAGGAGCTGAAGAA	0.502																																																	0													89.0	97.0	95.0					X																	101910559		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1718G>A	X.37:g.101910559G>A	ENSP00000355146:p.Gly573Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.G573E	ENST00000361600.5	37	c.1718	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	6.398	0.441513	0.12164	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	2.49	-4.74	0.03249	.	.	.	.	.	T	0.01661	0.0053	N	0.00841	-1.15	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34254	-0.9836	9	0.02654	T	1	.	4.8192	0.13381	0.4797:0.3089:0.2114:0.0	.	573	Q5JY77	GASP1_HUMAN	E	573	ENSP00000393691:G573E;ENSP00000409420:G573E;ENSP00000355146:G573E;ENSP00000445683:G573E	ENSP00000355146:G573E	G	+	2	0	GPRASP1	101797215	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.471000	0.02344	-1.755000	0.01320	0.519000	0.50382	GGA	GPRASP1	-	NULL		0.502	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101910559	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.000	A
GPRASP2	114928	genome.wustl.edu	37	X	101970441	101970441	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101970441G>C	ENST00000535209.1	+	4	1475	c.644G>C	c.(643-645)aGa>aCa	p.R215T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R215T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.R215T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	215						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCCAGGGCCAGAGAGGAGGCC	0.552																																																	0													100.0	109.0	106.0					X																	101970441		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.644G>C	X.37:g.101970441G>C	ENSP00000437394:p.Arg215Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R215T	ENST00000535209.1	37	c.644	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497778	0.12762	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.09350	2.99;2.99;2.99	4.39	2.51	0.30379	.	0.149074	0.32548	N	0.005957	T	0.09468	0.0233	L	0.44542	1.39	0.31891	N	0.617152	P	0.44877	0.845	B	0.41860	0.368	T	0.13415	-1.0510	10	0.32370	T	0.25	.	7.352	0.26697	0.2534:0.0:0.7466:0.0	.	215	Q96D09	GASP2_HUMAN	T	215	ENSP00000437872:R215T;ENSP00000437394:R215T;ENSP00000339057:R215T	ENSP00000339057:R215T	R	+	2	0	GPRASP2	101857097	0.983000	0.35010	0.602000	0.28890	0.005000	0.04900	2.809000	0.47971	0.519000	0.28406	-0.192000	0.12808	AGA	GPRASP2	-	NULL		0.552	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	G	NM_138437		101970441	+1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	0.991	C
GPRC5B	51704	genome.wustl.edu	37	16	19883813	19883813	+	Missense_Mutation	SNP	C	C	T	rs148205185		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:19883813C>T	ENST00000300571.2	-	2	546	c.355G>A	c.(355-357)Gag>Aag	p.E119K	GPRC5B_ENST00000537135.1_Missense_Mutation_p.E145K|GPRC5B_ENST00000535671.1_Missense_Mutation_p.E119K|GPRC5B_ENST00000569479.1_Missense_Mutation_p.E119K|GPRC5B_ENST00000569847.1_Missense_Mutation_p.E119K	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	119					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGATGGTCTCGTCCTCCTGG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	3,4391	6.2+/-15.9	0,3,2194	30.0	27.0	28.0		355	5.8	1.0	16	dbSNP_134	28	0,8600		0,0,4300	no	missense	GPRC5B	NM_016235.1	56	0,3,6494	TT,TC,CC		0.0,0.0683,0.0231	probably-damaging	119/404	19883813	3,12991	2197	4300	6497	SO:0001583	missense	51704			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.355G>A	16.37:g.19883813C>T	ENSP00000300571:p.Glu119Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.E145K	ENST00000300571.2	37	c.433	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185984	0.38609	6.83E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.87966	-2.32;-2.32;-2.32	5.8	5.8	0.92144	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.985;0.995	D	0.90916	0.4779	9	.	.	.	.	19.049	0.93034	0.0:1.0:0.0:0.0	.	145;119	B7Z831;Q9NZH0	.;GPC5B_HUMAN	K	119;119;145	ENSP00000300571:E119K;ENSP00000442858:E119K;ENSP00000441775:E145K	.	E	-	1	0	GPRC5B	19791314	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.685000	0.54678	2.755000	0.94549	0.655000	0.94253	GAG	GPRC5B	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.632	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	C			19883813	-1	no_errors	ENST00000537135	ensembl	human	known	70_37	missense	SNP	1.000	T
GPRIN1	114787	genome.wustl.edu	37	5	176025280	176025280	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176025280C>G	ENST00000303991.4	-	2	1733	c.1556G>C	c.(1555-1557)gGa>gCa	p.G519A		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	519					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGGATCTCCTTTTCCCCC	0.642																																																	0													54.0	55.0	55.0					5																	176025280		2203	4300	6503	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1556G>C	5.37:g.176025280C>G	ENSP00000305839:p.Gly519Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.G519A	ENST00000303991.4	37	c.1556	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.397926	0.04865	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.07444	3.19	4.23	-2.52	0.06346	.	0.479326	0.15649	N	0.251494	T	0.02267	0.0070	N	0.04768	-0.165	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42515	-0.9447	10	0.06757	T	0.87	-0.756	1.7248	0.02919	0.2005:0.4202:0.1722:0.2071	.	519	Q7Z2K8	GRIN1_HUMAN	A	519	ENSP00000305839:G519A	ENSP00000305839:G519A	G	-	2	0	GPRIN1	175957886	0.000000	0.05858	0.020000	0.16555	0.092000	0.18411	-0.361000	0.07612	-0.152000	0.11156	0.455000	0.32223	GGA	GPRIN1	-	NULL		0.642	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	C	NM_052899		176025280	-1	no_errors	ENST00000303991	ensembl	human	known	70_37	missense	SNP	0.023	G
GPT	2875	genome.wustl.edu	37	8	145730016	145730016	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:145730016C>T	ENST00000528431.1	+	3	349	c.192C>T	c.(190-192)atC>atT	p.I64I	GPT_ENST00000394955.2_Silent_p.I64I			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	64					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCGAGGTCATCCGTGCCAACA	0.662																																																	0													81.0	77.0	79.0					8																	145730016		2203	4300	6503	SO:0001819	synonymous_variant	2875				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.192C>T	8.37:g.145730016C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.I64	ENST00000528431.1	37	c.192	CCDS6430.1	8																																																																																			GPT	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.662	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1	C			145730016	+1	no_errors	ENST00000394955	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIN2D	2906	genome.wustl.edu	37	19	48908309	48908309	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:48908309G>A	ENST00000263269.3	+	3	872	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	262					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCAGCTGAGGAGGCTGGCCT	0.706																																																	0													10.0	11.0	11.0					19																	48908309		2186	4275	6461	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.784G>A	19.37:g.48908309G>A	ENSP00000263269:p.Glu262Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E262K	ENST00000263269.3	37	c.784	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479832	0.84747	.	.	ENSG00000105464	ENST00000263269	T	0.75260	-0.92	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.281878	0.31102	N	0.008242	T	0.74966	0.3786	L	0.42245	1.32	0.44995	D	0.998017	P	0.47484	0.896	P	0.48952	0.596	T	0.75800	-0.3190	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	262	O15399	NMDE4_HUMAN	K	262	ENSP00000263269:E262K	ENSP00000263269:E262K	E	+	1	0	GRIN2D	53600121	0.980000	0.34600	0.995000	0.50966	0.976000	0.68499	3.899000	0.56288	2.457000	0.83068	0.561000	0.74099	GAG	GRIN2D	-	pfam_ANF_lig-bd_rcpt		0.706	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	G			48908309	+1	no_errors	ENST00000263269	ensembl	human	known	70_37	missense	SNP	0.992	A
GSPT2	23708	genome.wustl.edu	37	X	51488448	51488448	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:51488448G>A	ENST00000340438.4	+	1	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	576					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418																																																	0													102.0	89.0	94.0					X																	51488448		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1726G>A	X.37:g.51488448G>A	ENSP00000341247:p.Val576Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.V576M	ENST00000340438.4	37	c.1726	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278888	0.59758	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.35421	1.31	4.75	4.75	0.60458	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66666	-0.5866	10	0.87932	D	0	-9.2185	14.5557	0.68100	0.0:0.0:1.0:0.0	.	576	Q8IYD1	ERF3B_HUMAN	M	576;493	ENSP00000341247:V576M	ENSP00000341247:V576M	V	+	1	0	GSPT2	51505188	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.141000	0.77330	2.615000	0.88500	0.596000	0.82720	GTG	GSPT2	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	G			51488448	+1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	A
H1FOO	132243	genome.wustl.edu	37	3	129270146	129270146	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:129270146C>T	ENST00000324382.2	+	5	1009	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	H1FOO_ENST00000503977.1_Missense_Mutation_p.S196L	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	335					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						ATCAAGGCCTCATCATCCAAA	0.577																																																	0													22.0	26.0	24.0					3																	129270146		2203	4300	6503	SO:0001583	missense	132243			AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.1004C>T	3.37:g.129270146C>T	ENSP00000319799:p.Ser335Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WT7	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5	p.S335L	ENST00000324382.2	37	c.1004	CCDS3064.1	3	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820744	0.50633	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.61392	0.24;0.11	5.11	2.29	0.28610	.	10.205600	0.00481	N	0.000132	T	0.52661	0.1748	L	0.46157	1.445	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.32295	-0.9912	10	0.54805	T	0.06	0.0291	5.5501	0.17086	0.0:0.6575:0.1625:0.18	.	335	Q8IZA3	H1FOO_HUMAN	L	335;196	ENSP00000319799:S335L;ENSP00000422964:S196L	ENSP00000319799:S335L	S	+	2	0	H1FOO	130752836	0.019000	0.18553	0.000000	0.03702	0.001000	0.01503	3.653000	0.54446	0.259000	0.21709	-0.291000	0.09656	TCA	H1FOO	-	NULL		0.577	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FOO	HGNC	protein_coding	OTTHUMT00000356100.3	C	NM_153833		129270146	+1	no_errors	ENST00000324382	ensembl	human	known	70_37	missense	SNP	0.000	T
H2BFM	286436	genome.wustl.edu	37	X	103294856	103294856	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:103294856C>T	ENST00000355016.3	+	1	341	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	H2BFM_ENST00000243297.5_Missense_Mutation_p.H208Y	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	105						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						TCAGCTGGCCCATTACACCAA	0.627																																																	0													18.0	18.0	18.0					X																	103294856		692	1591	2283	SO:0001583	missense	286436			AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.313C>T	X.37:g.103294856C>T	ENSP00000347119:p.His105Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP82	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.H208Y	ENST00000355016.3	37	c.622	CCDS55468.1	X	.	.	.	.	.	.	.	.	.	.	.	12.73	2.024366	0.35701	.	.	ENSG00000101812	ENST00000243297;ENST00000355016;ENST00000417637	T;T;T	0.20332	2.08;2.08;2.08	2.66	-2.47	0.06442	Histone-fold (2);Histone core (1);	0.639476	0.11299	U	0.578444	T	0.24314	0.0589	L	0.49778	1.585	0.09310	N	1	P	0.49559	0.925	P	0.50049	0.629	T	0.16012	-1.0417	10	0.72032	D	0.01	.	7.8924	0.29686	0.1658:0.3522:0.482:0.0	.	208	P0C1H6	H2BFM_HUMAN	Y	208;105;3	ENSP00000243297:H208Y;ENSP00000347119:H105Y;ENSP00000402466:H3Y	ENSP00000243297:H208Y	H	+	1	0	H2BFM	103181512	0.714000	0.27936	0.000000	0.03702	0.000000	0.00434	2.072000	0.41510	-0.918000	0.03808	-0.371000	0.07208	CAT	H2BFM	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.627	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	H2BFM	HGNC	protein_coding	OTTHUMT00000057758.2	C	XM_210048		103294856	+1	no_errors	ENST00000243297	ensembl	human	known	70_37	missense	SNP	0.161	T
HAUS2	55142	genome.wustl.edu	37	15	42853526	42853526	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42853526G>C	ENST00000260372.3	+	4	378	c.315G>C	c.(313-315)gaG>gaC	p.E105D	HAUS2_ENST00000568876.1_Missense_Mutation_p.E74D|HAUS2_ENST00000568846.2_3'UTR	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	105					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						TGCTGAAAGAGAAGAGATCCC	0.358																																																	0													118.0	111.0	113.0					15																	42853526		2203	4299	6502	SO:0001583	missense	55142			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.315G>C	15.37:g.42853526G>C	ENSP00000260372:p.Glu105Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.E105D	ENST00000260372.3	37	c.315	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650745	0.47362	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.46819	0.86	5.9	1.74	0.24563	.	0.157403	0.53938	D	0.000048	T	0.42040	0.1185	M	0.75264	2.295	0.35085	D	0.763767	B;B	0.24533	0.084;0.105	B;B	0.18263	0.019;0.021	T	0.45352	-0.9267	10	0.52906	T	0.07	-1.4321	5.4727	0.16678	0.3556:0.0:0.5227:0.1217	.	74;105	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	D	105;74	ENSP00000260372:E105D	ENSP00000260372:E105D	E	+	3	2	HAUS2	40640818	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	0.778000	0.26732	0.340000	0.23745	0.655000	0.94253	GAG	HAUS2	-	NULL		0.358	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	G	NM_018097		42853526	+1	no_errors	ENST00000260372	ensembl	human	known	70_37	missense	SNP	0.997	C
HAUS4	54930	genome.wustl.edu	37	14	23421630	23421630	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:23421630C>T	ENST00000206474.7	-	4	489	c.237G>A	c.(235-237)ttG>ttA	p.L79L	HAUS4_ENST00000555367.1_Silent_p.L79L|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Silent_p.L79L|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000347758.2_Silent_p.L79L|HAUS4_ENST00000541587.1_Silent_p.L79L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000342454.8_Silent_p.L79L|HAUS4_ENST00000555986.1_Silent_p.L79L			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	79					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTCAGACCTCAACCATGTTG	0.408																																																	0													251.0	243.0	245.0					14																	23421630		2203	4300	6503	SO:0001819	synonymous_variant	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.237G>A	14.37:g.23421630C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Silent	SNP	NULL	p.L79	ENST00000206474.7	37	c.237	CCDS9580.1	14																																																																																			HAUS4	-	NULL		0.408	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	C			23421630	-1	no_errors	ENST00000206474	ensembl	human	known	70_37	silent	SNP	0.985	T
HAUS5	23354	genome.wustl.edu	37	19	36109886	36109886	+	Missense_Mutation	SNP	C	C	T	rs371815199		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:36109886C>T	ENST00000203166.5	+	13	1139	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	372					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCTGGGCATCGGCAGCTCCT	0.657																																																	0													32.0	35.0	34.0					19																	36109886		1980	4164	6144	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1114C>T	19.37:g.36109886C>T	ENSP00000439056:p.Arg372Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.R372W	ENST00000203166.5	37	c.1114	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015138	0.54468	.	.	ENSG00000249115	ENST00000203166	T	0.37915	1.17	5.6	3.26	0.37387	.	0.406151	0.23624	N	0.046202	T	0.49440	0.1557	M	0.63843	1.955	0.09310	N	0.999997	D	0.71674	0.998	P	0.58130	0.833	T	0.40590	-0.9555	10	0.72032	D	0.01	-2.4057	11.8854	0.52600	0.3285:0.6715:0.0:0.0	.	372	O94927	HAUS5_HUMAN	W	372	ENSP00000439056:R372W	ENSP00000439056:R372W	R	+	1	2	HAUS5	40801726	0.013000	0.17824	0.102000	0.21198	0.574000	0.36063	0.677000	0.25262	1.355000	0.45865	0.563000	0.77884	CGG	HAUS5	-	NULL		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36109886	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.030	T
HDAC3	8841	genome.wustl.edu	37	5	141007738	141007738	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:141007738G>C	ENST00000305264.3	-	9	787	c.708C>G	c.(706-708)ttC>ttG	p.F236L	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	236	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TAACCGGCTGGAAAAGGTGCT	0.552																																																	0													78.0	64.0	69.0					5																	141007738		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.708C>G	5.37:g.141007738G>C	ENSP00000302967:p.Phe236Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.F236L	ENST00000305264.3	37	c.708	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234926	0.58886	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	T;T	0.70631	-0.5;-0.5	5.57	5.57	0.84162	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.70787	2.145	0.80722	D	1	P	0.40931	0.733	B	0.43701	0.428	T	0.78623	-0.2132	10	0.72032	D	0.01	-19.6594	19.3421	0.94347	0.0:0.0:1.0:0.0	.	236	O15379	HDAC3_HUMAN	L	236;161	ENSP00000302967:F236L;ENSP00000429099:F161L	ENSP00000302967:F236L	F	-	3	2	HDAC3	140987922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.614000	0.61183	2.902000	0.99343	0.650000	0.86243	TTC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1		0.552	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	G	NM_003883		141007738	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	C
HDAC9	9734	genome.wustl.edu	37	7	18674292	18674292	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:18674292C>T	ENST00000432645.2	+	7	830	c.830C>T	c.(829-831)tCa>tTa	p.S277L	HDAC9_ENST00000428307.2_Missense_Mutation_p.S233L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S249L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S277L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S264L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S280L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S275L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S200L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S236L|HDAC9_ENST00000406451.4_Missense_Mutation_p.S277L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	277	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTCCCAGTTCACCAAACAAT	0.418																																																	0													79.0	78.0	78.0					7																	18674292		1884	4101	5985	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.830C>T	7.37:g.18674292C>T	ENSP00000410337:p.Ser277Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S280L	ENST00000432645.2	37	c.839	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.169406	0.94768	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.71698	-0.58;0.37;-0.09;-0.57;-0.59;-0.59;-0.1;-0.08;0.35;-0.55	5.51	5.51	0.81932	.	0.293302	0.24511	N	0.037896	D	0.86623	0.5977	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.998;0.998;0.999;0.981;0.999;0.999;0.999;0.981;0.999;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.987;0.991;0.994;0.987;0.987;0.994;0.966;0.994;0.994;0.991;0.966;0.994;0.996;0.987	D	0.88202	0.2884	10	0.87932	D	0	-27.2678	19.415	0.94690	0.0:1.0:0.0:0.0	.	200;249;277;264;275;277;280;236;280;277;249;277;277;255	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	275;278;277;277;233;264;236;277;280;249;200;277	ENSP00000401669:S275L;ENSP00000384382:S277L;ENSP00000384657:S277L;ENSP00000395655:S233L;ENSP00000384017:S264L;ENSP00000383912:S236L;ENSP00000410337:S277L;ENSP00000408617:S280L;ENSP00000388568:S249L;ENSP00000430036:S200L	ENSP00000262069:S278L	S	+	2	0	HDAC9	18640817	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.294000	0.78760	2.600000	0.87896	0.650000	0.86243	TCA	HDAC9	-	pirsf_Histone_deAcase_II_euk		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	C			18674292	+1	no_errors	ENST00000441542	ensembl	human	known	70_37	missense	SNP	1.000	T
HDAC9	9734	genome.wustl.edu	37	7	18674294	18674295	+	Frame_Shift_Ins	INS	-	-	CAAA			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:18674294_18674295insCAAA	ENST00000432645.2	+	7	832_833	c.832_833insCAAA	c.(832-834)ccafs	p.-280fs	HDAC9_ENST00000428307.2_Frame_Shift_Ins_p.-236fs|HDAC9_ENST00000456174.2_Frame_Shift_Ins_p.-252fs|HDAC9_ENST00000405010.3_Frame_Shift_Ins_p.-280fs|HDAC9_ENST00000406072.1_Frame_Shift_Ins_p.-267fs|HDAC9_ENST00000441542.2_Frame_Shift_Ins_p.-283fs|HDAC9_ENST00000417496.2_Frame_Shift_Ins_p.-278fs|HDAC9_ENST00000524023.1_Frame_Shift_Ins_p.-203fs|HDAC9_ENST00000401921.1_Frame_Shift_Ins_p.-239fs|HDAC9_ENST00000406451.4_Frame_Shift_Ins_p.-280fs	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCCAGTTCACCAAACAATGGG	0.416																																																	0																																										SO:0001589	frameshift_variant	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.833_836dupCAAA	7.37:g.18674295_18674298dupCAAA	ENSP00000410337:p.Asn280fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.N283fs	ENST00000432645.2	37	c.841_842	CCDS47555.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk		0.416	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-			18674295	+1	no_errors	ENST00000441542	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CAAA
HEATR5A	25938	genome.wustl.edu	37	14	31863314	31863314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:31863314G>T	ENST00000389961.3	-	5	697	c.698C>A	c.(697-699)tCa>tAa	p.S233*	HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.S239*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.S233*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.S239*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	233										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGTAACTTTGAAACAGAAAT	0.353																																																	0																																										SO:0001587	stop_gained	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.698C>A	14.37:g.31863314G>T	ENSP00000374611:p.Ser233*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S233*	ENST00000389961.3	37	c.698		14	.	.	.	.	.	.	.	.	.	.	G	39	7.526266	0.98339	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677	.	.	.	4.89	4.89	0.63831	.	0.321566	0.29692	N	0.011446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-12.3393	18.2422	0.89971	0.0:0.0:1.0:0.0	.	.	.	.	X	233;233;239;239	.	ENSP00000374611:S233X	S	-	2	0	HEATR5A	30933065	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.563000	0.98148	2.548000	0.85928	0.655000	0.94253	TCA	HEATR5A	-	superfamily_ARM-type_fold		0.353	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31863314	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62198726	62198726	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:62198726G>A	ENST00000467148.1	-	6	2054	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	HELZ2_ENST00000427522.2_Missense_Mutation_p.S93F|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	662	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAGAATGTGGGAGAAGAAGCC	0.711																																																	0													13.0	17.0	16.0					20																	62198726		2151	4266	6417	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1985C>T	20.37:g.62198726G>A	ENSP00000417401:p.Ser662Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S662F	ENST00000467148.1	37	c.1985	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324729	0.60634	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82526	-1.62;-1.62	4.76	4.76	0.60689	ATPase, AAA+ type, core (1);	1.766920	0.02806	N	0.123777	D	0.93449	0.7910	M	0.88979	2.995	0.38256	D	0.941758	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.83271	-0.0043	10	0.66056	D	0.02	-24.6214	13.0939	0.59180	0.0:0.298:0.702:0.0	.	662;93	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	F	93;662	ENSP00000393257:S93F;ENSP00000417401:S662F	ENSP00000393257:S93F	S	-	2	0	RP4-697K14.7	61669170	1.000000	0.71417	0.991000	0.47740	0.441000	0.31987	4.947000	0.63583	2.220000	0.72140	0.561000	0.74099	TCC	HELZ2	-	NULL		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62198726	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.997	A
HERC1	8925	genome.wustl.edu	37	15	63916527	63916527	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63916527C>G	ENST00000443617.2	-	72	13363		c.e72-1			NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGTGCTGTTCTGTAACAGAA	0.428																																																	0													119.0	108.0	112.0					15																	63916527		1878	4121	5999	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13276-1G>C	15.37:g.63916527C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Splice_Site	SNP	-	e71-1	ENST00000443617.2	37	c.13276-1	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462902	0.84425	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8411	0.92184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61703580	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.465000	0.80898	2.501000	0.84356	0.655000	0.94253	.	HERC1	-	-		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922	Intron	63916527	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	splice_site	SNP	1.000	G
HERC1	8925	genome.wustl.edu	37	15	63918234	63918234	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63918234C>T	ENST00000443617.2	-	71	13312	c.13225G>A	c.(13225-13227)Gac>Aac	p.D4409N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4409					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACATGAGGTCAGAGAAGTGG	0.597																																																	0													64.0	67.0	66.0					15																	63918234		2066	4202	6268	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13225G>A	15.37:g.63918234C>T	ENSP00000390158:p.Asp4409Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.D4409N	ENST00000443617.2	37	c.13225	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038268	0.93630	.	.	ENSG00000103657	ENST00000443617	T	0.27720	1.65	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.50333	1.59	0.80722	D	1	P	0.40970	0.734	B	0.42798	0.398	T	0.07849	-1.0751	10	0.46703	T	0.11	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	4409	Q15751	HERC1_HUMAN	N	4409	ENSP00000390158:D4409N	ENSP00000390158:D4409N	D	-	1	0	HERC1	61705287	1.000000	0.71417	0.969000	0.41365	0.544000	0.35116	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GAC	HERC1	-	NULL		0.597	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63918234	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T
HERC2P2	400322	genome.wustl.edu	37	15	23303929	23303929	+	RNA	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:23303929G>A	ENST00000560464.1	-	0	3995									hect domain and RLD 2 pseudogene 2																		AAGGTCAGGTGATACCACTGC	0.483																																																	0																																												400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23303929G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-		0.483	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	G			23303929	-1	no_errors	ENST00000560464	ensembl	human	known	70_37	rna	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	64039150	64039150	+	Silent	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:64039150C>A	ENST00000443617.2	-	12	2574	c.2487G>T	c.(2485-2487)ctG>ctT	p.L829L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	829					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGTCCATCAGTCTGAAGA	0.458																																																	0													49.0	45.0	46.0					15																	64039150		1897	4074	5971	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2487G>T	15.37:g.64039150C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L829	ENST00000443617.2	37	c.2487	CCDS45277.1	15																																																																																			HERC1	-	NULL		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		64039150	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	silent	SNP	1.000	A
HERC5	51191	genome.wustl.edu	37	4	89421099	89421099	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:89421099G>A	ENST00000264350.3	+	19	2620	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N	HERC5_ENST00000508159.1_Missense_Mutation_p.D461N	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	823	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ACTTCTGGATGATGAAGGTGA	0.294																																					Esophageal Squamous(39;887 1012 34045 50514)												0													96.0	104.0	101.0					4																	89421099		2202	4299	6501	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2467G>A	4.37:g.89421099G>A	ENSP00000264350:p.Asp823Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D823N	ENST00000264350.3	37	c.2467	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.581693	0.00879	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.39229	1.09;1.09	4.49	1.46	0.22682	HECT (4);	0.554156	0.15976	N	0.235548	T	0.20088	0.0483	N	0.25031	0.7	0.22719	N	0.998812	B	0.18461	0.028	B	0.26614	0.071	T	0.29971	-0.9994	10	0.02654	T	1	.	2.1047	0.03688	0.1198:0.1946:0.4854:0.2002	.	823	Q9UII4	HERC5_HUMAN	N	823;461	ENSP00000264350:D823N;ENSP00000424129:D461N	ENSP00000264350:D823N	D	+	1	0	HERC5	89640122	0.998000	0.40836	0.993000	0.49108	0.018000	0.09664	0.120000	0.15647	0.143000	0.18926	-0.291000	0.09656	GAT	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.294	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	G	NM_016323		89421099	+1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.998	A
HMGN1	3150	genome.wustl.edu	37	21	40719458	40719458	+	Intron	SNP	C	C	T	rs556123224		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:40719458C>T	ENST00000380749.5	-	4	409				HMGN1_ENST00000489072.1_Intron|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000380748.1_Intron|HMGN1_ENST00000361263.4_5'Flank|HMGN1_ENST00000380747.1_Intron|Y_RNA_ENST00000517106.1_RNA	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1						chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTTGAGACTTCAAATAGCAAA	0.358																																																	0																																										SO:0001627	intron_variant	3150				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.126+759G>A	21.37:g.40719458C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQR8	RNA	SNP	-	NULL	ENST00000380749.5	37	NULL	CCDS33559.1	21																																																																																			HMGN1	-	-		0.358	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	C	NM_004965		40719458	-1	no_errors	ENST00000471260	ensembl	human	known	70_37	rna	SNP	0.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23670749	23670749	+	5'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:23670749G>C	ENST00000374612.1	-	0	66				HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000427764.2_5'UTR|HNRNPR_ENST00000374616.3_5'UTR|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000302271.6_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GAATCAGCGCGAGGCGCTTTG	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.-58C>G	1.37:g.23670749G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	SNP	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-		0.726	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23670749	-1	no_errors	ENST00000478691	ensembl	human	known	70_37	rna	SNP	1.000	C
HOXA3	3200	genome.wustl.edu	37	7	27150230	27150230	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:27150230C>G	ENST00000396352.4	-	2	229	c.30G>C	c.(28-30)tcG>tcC	p.S10S	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.S10S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	10					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CGTAGATCGCCGAGCTGTCGT	0.607																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													87.0	64.0	71.0					7																	27150230		1995	3990	5985	SO:0001819	synonymous_variant	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.30G>C	7.37:g.27150230C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D181	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S10	ENST00000396352.4	37	c.30	CCDS5404.1	7																																																																																			HOXA3	-	NULL		0.607	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	C			27150230	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	silent	SNP	0.996	G
HOXD4	3233	genome.wustl.edu	37	2	177017826	177017826	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:177017826G>A	ENST00000306324.3	+	0	1336				MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_Intron	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CATCCTGCCCGAGGGCAGCCC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.*156G>A	2.37:g.177017826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9R3|Q96AU0	RNA	SNP	-	NULL	ENST00000306324.3	37	NULL	CCDS2269.1	2																																																																																			HOXD4	-	-		0.612	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	G			177017826	+1	no_errors	ENST00000465649	ensembl	human	known	70_37	rna	SNP	0.903	A
HP	3240	genome.wustl.edu	37	16	72090431	72090431	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:72090431G>A	ENST00000355906.5	+	3	149	c.91G>A	c.(91-93)Gac>Aac	p.D31N	HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Intron|HP_ENST00000357763.4_Missense_Mutation_p.D31N|HP_ENST00000565574.1_Missense_Mutation_p.D31N|HP_ENST00000569639.1_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.D31N	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	31	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		Missing (in allele HP*1F and allele HP*1S). {ECO:0000269|PubMed:6330675, ECO:0000269|PubMed:6546723}.		acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTTTGCAGATGACGGCTGCCC	0.512																																																	0													6.0	5.0	5.0					16																	72090431		1706	3860	5566	SO:0001583	missense	3240				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.91G>A	16.37:g.72090431G>A	ENSP00000348170:p.Asp31Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D31N	ENST00000355906.5	37	c.91	CCDS45524.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.279866|1.279866	0.23392|0.23392	.|.	.|.	ENSG00000257017|ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000357763|ENST00000405951	D;D|.	0.89485|.	-2.52;-2.39|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Sushi/SCR/CCP (1);|.	.|.	.|.	.|.	.|.	T|T	0.70456|0.70456	0.3226|0.3226	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	P;D|.	0.64830|.	0.905;0.994|.	P;P|.	0.52793|.	0.447;0.709|.	T|T	0.73157|0.73157	-0.4071|-0.4071	9|6	0.02654|0.87932	T|D	1|0	.|.	13.6502|13.6502	0.62306|0.62306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	31;31|.	Q0VAC5;P00738|.	.;HPT_HUMAN|.	N|I	31;31;66|7	ENSP00000348170:D31N;ENSP00000381199:D31N|.	ENSP00000348170:D31N|ENSP00000386047:M7I	D|M	+|+	1|3	0|0	HP|HP	70647932|70647932	0.987000|0.987000	0.35691|0.35691	0.986000|0.986000	0.45419|0.45419	0.133000|0.133000	0.20885|0.20885	2.174000|2.174000	0.42482|0.42482	2.664000|2.664000	0.90586|0.90586	0.558000|0.558000	0.71614|0.71614	GAC|ATG	HP	-	pfscan_Sushi_SCR_CCP		0.512	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	G	NM_005143		72090431	+1	no_errors	ENST00000355906	ensembl	human	known	70_37	missense	SNP	0.998	A
HPS4	89781	genome.wustl.edu	37	22	26860208	26860208	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:26860208C>T	ENST00000398145.2	-	11	2004	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	HPS4_ENST00000402105.3_Missense_Mutation_p.R458K|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Missense_Mutation_p.R476K|HPS4_ENST00000336873.5_Missense_Mutation_p.R463K	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	463					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCGGGTCCTTCTGGGGAGAGG	0.592									Hermansky-Pudlak syndrome																																								0													118.0	118.0	118.0					22																	26860208		2203	4300	6503	SO:0001583	missense	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1388G>A	22.37:g.26860208C>T	ENSP00000381213:p.Arg463Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.R476K	ENST00000398145.2	37	c.1427	CCDS13835.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.46|18.46	3.629428|3.629428	0.67015|0.67015	.|.	.|.	ENSG00000100099|ENSG00000100099	ENST00000312736|ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000422379	.|T;T;T;T;T	.|0.58652	.|1.57;1.56;1.57;1.57;0.32	4.52|4.52	2.27|2.27	0.28462|0.28462	.|.	.|1.263590	.|0.04971	.|N	.|0.463823	.|T	.|0.42177	.|0.1191	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P;B;P;B;B	.|0.36535	.|0.557;0.557;0.187;0.557;0.103;0.187	.|B;B;B;B;B;B	.|0.30495	.|0.085;0.085;0.058;0.116;0.058;0.058	.|T	.|0.28713	.|-1.0035	.|10	.|0.06099	.|T	.|0.92	.|0.1649	4.7993|4.7993	0.13289|0.13289	0.0:0.6518:0.2252:0.123|0.0:0.6518:0.2252:0.123	.|.	.|463;463;463;463;476;458	.|Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.|.;.;HPS4_HUMAN;.;.;.	.|K	-1|463;476;458;463;481	.|ENSP00000381213:R463K;ENSP00000381210:R476K;ENSP00000384185:R458K;ENSP00000338457:R463K;ENSP00000415081:R481K	.|ENSP00000338457:R463K	.|R	-|-	.|2	.|0	HPS4|HPS4	25190208|25190208	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.172000|0.172000	0.22775|0.22775	0.004000|0.004000	0.13106|0.13106	1.113000|1.113000	0.41760|0.41760	0.655000|0.655000	0.94253|0.94253	.|AGA	HPS4	-	NULL		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	C	NM_022081		26860208	-1	no_errors	ENST00000398141	ensembl	human	known	70_37	missense	SNP	0.000	T
HSD3B2	3284	genome.wustl.edu	37	1	119964551	119964551	+	Missense_Mutation	SNP	G	G	C	rs587631086		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:119964551G>C	ENST00000543831.1	+	4	676	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E143Q	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	143					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)	CGGCCACGAAGAAGAGCCTCT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17609	0.001		0.0	False		,,,				2504	0.0																0													97.0	97.0	97.0					1																	119964551		2203	4300	6503	SO:0001583	missense	3284			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.427G>C	1.37:g.119964551G>C	ENSP00000445122:p.Glu143Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E143Q	ENST00000543831.1	37	c.427	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	9.191	1.026157	0.19512	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.89270	-2.49;-2.49;-2.49	4.1	3.14	0.36123	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.325916	0.35407	N	0.003229	D	0.84320	0.5446	M	0.82056	2.57	0.32189	N	0.579371	B	0.26547	0.152	B	0.36092	0.217	T	0.78107	-0.2333	9	.	.	.	-1.5489	11.9279	0.52829	0.0:0.0:0.8246:0.1754	.	143	P26439	3BHS2_HUMAN	Q	143	ENSP00000445122:E143Q;ENSP00000388292:E143Q;ENSP00000358424:E143Q	.	E	+	1	0	HSD3B2	119766074	1.000000	0.71417	0.066000	0.19879	0.021000	0.10359	5.013000	0.64023	0.688000	0.31529	0.298000	0.19748	GAA	HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	G	NM_000198		119964551	+1	no_errors	ENST00000369416	ensembl	human	known	70_37	missense	SNP	0.998	C
HSPA8	3312	genome.wustl.edu	37	11	122931451	122931451	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:122931451C>T	ENST00000532636.1	-	3	380	c.261G>A	c.(259-261)atG>atA	p.M87I	HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000526110.1_Missense_Mutation_p.M87I|HSPA8_ENST00000534319.1_5'Flank|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.M87I|HSPA8_ENST00000533540.1_Missense_Mutation_p.M87I|HSPA8_ENST00000453788.2_Missense_Mutation_p.M87I|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.M87I			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	87					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCAATGTTTCATATCAGACT	0.433																																					Colon(21;486 594 5900 6733 14272)												0													87.0	86.0	87.0					11																	122931451		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.261G>A	11.37:g.122931451C>T	ENSP00000437125:p.Met87Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.M87I	ENST00000532636.1	37	c.261	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785515	0.70337	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.00856	5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61;5.61	4.19	4.19	0.49359	.	0.042118	0.85682	D	0.000000	T	0.01765	0.0056	N	0.13003	0.285	0.80722	D	1	P;P;P;B	0.44344	0.833;0.688;0.638;0.002	P;P;P;B	0.53912	0.676;0.737;0.618;0.015	T	0.75816	-0.3184	10	0.59425	D	0.04	-23.2948	16.9022	0.86117	0.0:1.0:0.0:0.0	.	87;87;87;87	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	I	87;87;87;87;87;87;27;87;87;87;87;87;87	ENSP00000437125:M87I;ENSP00000437189:M87I;ENSP00000432083:M87I;ENSP00000404372:M87I;ENSP00000227378:M87I;ENSP00000433584:M87I;ENSP00000432884:M27I;ENSP00000435154:M87I;ENSP00000431641:M87I;ENSP00000436183:M87I;ENSP00000434415:M87I;ENSP00000434565:M87I;ENSP00000434851:M87I	ENSP00000227378:M87I	M	-	3	0	HSPA8	122436661	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.816000	0.86201	2.037000	0.60232	0.491000	0.48974	ATG	HSPA8	-	pfam_Hsp_70_fam		0.433	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122931451	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	T
HTR3E	285242	genome.wustl.edu	37	3	183824066	183824066	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:183824066G>A	ENST00000415389.2	+	8	1542	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	HTR3E_ENST00000436361.2_Missense_Mutation_p.R359K|HTR3E_ENST00000335304.2_Missense_Mutation_p.R374K|HTR3E_ENST00000425359.2_Missense_Mutation_p.R344K|HTR3E_ENST00000440596.2_Missense_Mutation_p.R385K|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	359					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGCCCGGGGAGATGCTGTCCC	0.657																																					Melanoma(7;227 727 6634 44770)												0													38.0	41.0	40.0					3																	183824066		2203	4300	6503	SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1076G>A	3.37:g.183824066G>A	ENSP00000401444:p.Arg359Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.R374K	ENST00000415389.2	37	c.1121	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	g	1.373	-0.585499	0.03827	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	4.36	-4.25	0.03766	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.429190	0.03546	N	0.224756	T	0.61652	0.2364	N	0.03948	-0.315	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.001;0.002;0.003	B;B;B;B;B	0.14023	0.01;0.005;0.004;0.004;0.004	T	0.61941	-0.6959	10	0.05525	T	0.97	.	5.6054	0.17377	0.2816:0.3151:0.4033:0.0	.	385;359;359;374;344	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	K	359;344;374;359;385	ENSP00000401444:R359K;ENSP00000401900:R344K;ENSP00000335511:R374K;ENSP00000395833:R359K;ENSP00000406050:R385K	ENSP00000335511:R374K	R	+	2	0	HTR3E	185306760	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	0.160000	0.16462	-0.824000	0.04295	-0.367000	0.07326	AGA	HTR3E	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.657	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	G	NM_182589		183824066	+1	no_errors	ENST00000335304	ensembl	human	known	70_37	missense	SNP	0.000	A
HYDIN	54768	genome.wustl.edu	37	16	70917970	70917970	+	Missense_Mutation	SNP	C	C	T	rs564737189		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:70917970C>T	ENST00000393567.2	-	59	9982	c.9832G>A	c.(9832-9834)Gga>Aga	p.G3278R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3278					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTGTCCTCCGGAAGGAATG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		22205	0.0		0.0	False		,,,				2504	0.001																0													22.0	24.0	23.0					16																	70917970		2012	4176	6188	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9832G>A	16.37:g.70917970C>T	ENSP00000377197:p.Gly3278Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.G3277R	ENST00000393567.2	37	c.9829	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764129	0.69878	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01963	4.53	5.01	5.01	0.66863	.	0.000000	0.32548	U	0.005945	T	0.13841	0.0335	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01301	-1.1391	10	0.40728	T	0.16	.	17.9159	0.88950	0.0:1.0:0.0:0.0	.	3277	F8WD23	.	R	3278;3277	ENSP00000377197:G3278R	ENSP00000313052:G3277R	G	-	1	0	HYDIN	69475471	1.000000	0.71417	0.795000	0.32087	0.121000	0.20230	5.357000	0.66058	2.325000	0.78763	0.511000	0.50034	GGA	HYDIN	-	NULL		0.587	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70917970	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	T
HYDIN	54768	genome.wustl.edu	37	16	71012846	71012846	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:71012846C>T	ENST00000393567.2	-	30	4759	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1537					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCACTTCCTCAGTTATTATG	0.468																																																	0													120.0	108.0	112.0					16																	71012846		1961	4152	6113	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4609G>A	16.37:g.71012846C>T	ENSP00000377197:p.Glu1537Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E1536K	ENST00000393567.2	37	c.4606	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045092	0.75846	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00949	5.51	4.82	4.82	0.62117	.	0.647023	0.11835	U	0.524801	T	0.02494	0.0076	L	0.57536	1.79	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.62637	-0.6812	10	0.08837	T	0.75	.	9.5543	0.39328	0.0:0.9017:0.0:0.0983	.	1536	F8WD23	.	K	1537;1536	ENSP00000377197:E1537K	ENSP00000313052:E1536K	E	-	1	0	HYDIN	69570347	0.993000	0.37304	0.920000	0.36463	0.174000	0.22865	4.090000	0.57693	2.381000	0.81170	0.609000	0.83330	GAG	HYDIN	-	NULL		0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71012846	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.700	T
ICAM3	3385	genome.wustl.edu	37	19	10446644	10446644	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10446644C>T	ENST00000160262.5	-	3	560	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ICAM3_ENST00000589261.1_Missense_Mutation_p.E41K|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	118					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCCACACGCTCCGGGAGCCCT	0.682																																																	0													6.0	6.0	6.0					19																	10446644		2134	4193	6327	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.352G>A	19.37:g.10446644C>T	ENSP00000160262:p.Glu118Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.E118K	ENST00000160262.5	37	c.352	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449434	0.63178	.	.	ENSG00000076662	ENST00000160262	T	0.03607	3.87	5.16	-0.98	0.10272	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.148980	0.06345	N	0.708844	T	0.07098	0.0180	L	0.43701	1.375	0.09310	N	1	P;P	0.41188	0.539;0.741	P;P	0.51229	0.593;0.663	T	0.40664	-0.9551	10	0.46703	T	0.11	-8.3836	4.6179	0.12435	0.0:0.4326:0.3044:0.263	.	41;118	B7Z6W6;P32942	.;ICAM3_HUMAN	K	118	ENSP00000160262:E118K	ENSP00000160262:E118K	E	-	1	0	ICAM3	10307644	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.112000	0.10791	0.003000	0.14656	0.505000	0.49811	GAG	ICAM3	-	pfam_ICAM_N,pfscan_Ig-like,prints_ICAM_VCAM_N		0.682	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	C			10446644	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.000	T
IFI16	3428	genome.wustl.edu	37	1	158990292	158990292	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:158990292G>C	ENST00000295809.7	+	6	1389	c.1134G>C	c.(1132-1134)ctG>ctC	p.L378L	IFI16_ENST00000448393.2_Silent_p.L378L|IFI16_ENST00000359709.3_Silent_p.L322L|IFI16_ENST00000430894.2_Silent_p.L326L|IFI16_ENST00000368131.4_Silent_p.L378L|IFI16_ENST00000368132.3_Silent_p.L378L|IFI16_ENST00000340979.6_Silent_p.L378L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	378	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|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)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGTCAAAACTGATTTCAGAAA	0.348																																																	0													61.0	71.0	68.0					1																	158990292		2203	4300	6503	SO:0001819	synonymous_variant	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1134G>C	1.37:g.158990292G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.L378	ENST00000295809.7	37	c.1134		1	.	.	.	.	.	.	.	.	.	.	G	1.336	-0.595314	0.03771	.	.	ENSG00000163565	ENST00000448393	.	.	.	2.64	0.511	0.16989	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5552	0.07862	0.1651:0.267:0.5679:0.0	.	.	.	.	S	199	.	.	X	+	2	2	IFI16	157256916	0.009000	0.17119	0.001000	0.08648	0.012000	0.07955	0.687000	0.25407	-0.014000	0.14175	0.561000	0.74099	TGA	IFI16	-	pfscan_HIN200/IF120x		0.348	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		158990292	+1	no_errors	ENST00000295809	ensembl	human	known	70_37	silent	SNP	0.004	C
IFT57	55081	genome.wustl.edu	37	3	107941091	107941091	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:107941091C>T	ENST00000264538.3	-	1	326	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	27					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AAGACCACTTCCCCGGTCCCT	0.637																																																	0													42.0	44.0	43.0					3																	107941091		2203	4300	6503	SO:0001583	missense	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.79G>A	3.37:g.107941091C>T	ENSP00000264538:p.Glu27Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DA9	Missense_Mutation	SNP	pfam_Intra-flagellar_transport_57,superfamily_t-SNARE	p.E27K	ENST00000264538.3	37	c.79	CCDS2951.1	3	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147885	0.57151	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	4.93	4.05	0.47172	.	0.331910	0.36628	N	0.002494	T	0.31796	0.0808	N	0.24115	0.695	0.30713	N	0.749037	B	0.02656	0.0	B	0.04013	0.001	T	0.13737	-1.0498	9	0.24483	T	0.36	.	12.3908	0.55358	0.0:0.9178:0.0:0.0822	.	27	Q9NWB7	IFT57_HUMAN	K	27	.	ENSP00000264538:E27K	E	-	1	0	IFT57	109423781	0.971000	0.33674	0.998000	0.56505	0.617000	0.37484	1.831000	0.39141	2.710000	0.92621	0.557000	0.71058	GAA	IFT57	-	NULL		0.637	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT57	HGNC	protein_coding	OTTHUMT00000353918.1	C	NM_018010		107941091	-1	no_errors	ENST00000264538	ensembl	human	known	70_37	missense	SNP	0.965	T
IL6R	3570	genome.wustl.edu	37	1	154426969	154426969	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154426969G>C	ENST00000368485.3	+	9	1509	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	358			D -> A (significantly associated with circulating levels of IL6 and soluble IL6R; dbSNP:rs2228145). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17357077}.		acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCTAGTGCAAGATTCTTCTTC	0.468																																																	0													73.0	64.0	67.0					1																	154426969		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1072G>C	1.37:g.154426969G>C	ENSP00000357470:p.Asp358His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D358H	ENST00000368485.3	37	c.1072	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.951542|2.951542	0.53186|0.53186	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485|ENST00000515190	T|.	0.18174|.	2.23|.	4.03|4.03	3.1|3.1	0.35709|0.35709	.|.	7.394690|.	0.00166|.	N|.	0.000000|.	T|T	0.42539|0.42539	0.1207|0.1207	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.56746|.	0.977|.	P|.	0.49708|.	0.62|.	T|T	0.32188|0.32188	-0.9916|-0.9916	10|5	0.51188|.	T|.	0.08|.	-2.254|-2.254	9.7628|9.7628	0.40543|0.40543	0.0:0.2107:0.7893:0.0|0.0:0.2107:0.7893:0.0	.|.	358|.	P08887|.	IL6RA_HUMAN|.	H|N	358|160	ENSP00000357470:D358H|.	ENSP00000357470:D358H|.	D|K	+|+	1|3	0|2	IL6R|IL6R	152693593|152693593	0.255000|0.255000	0.24002|0.24002	0.874000|0.874000	0.34290|0.34290	0.349000|0.349000	0.29174|0.29174	0.291000|0.291000	0.18994|0.18994	1.015000|1.015000	0.39444|0.39444	-0.315000|-0.315000	0.08773|0.08773	GAT|AAG	IL6R	-	NULL		0.468	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	G	NM_000565		154426969	+1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.830	C
IL6R	3570	genome.wustl.edu	37	1	154427027	154427027	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:154427027G>A	ENST00000368485.3	+	9	1567	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	377					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGGCCTTCGGAACGCTCCTC	0.483																																																	0													111.0	97.0	102.0					1																	154427027		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1130G>A	1.37:g.154427027G>A	ENSP00000357470:p.Gly377Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G377E	ENST00000368485.3	37	c.1130	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.96|17.96	3.516437|3.516437	0.64634|0.64634	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000515190|ENST00000368485	.|T	.|0.25912	.|1.77	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.888017	.|0.09415	.|N	.|0.805251	T|T	0.41166|0.41166	0.1147|0.1147	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.11036|0.11036	-1.0604|-1.0604	5|10	.|0.51188	.|T	.|0.08	-20.8596|-20.8596	12.4624|12.4624	0.55738|0.55738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377	.|P08887	.|IL6RA_HUMAN	K|E	180|377	.|ENSP00000357470:G377E	.|ENSP00000357470:G377E	E|G	+|+	1|2	0|0	IL6R|IL6R	152693651|152693651	0.969000|0.969000	0.33509|0.33509	0.168000|0.168000	0.22838|0.22838	0.007000|0.007000	0.05969|0.05969	2.941000|2.941000	0.49011|0.49011	2.309000|2.309000	0.77851|0.77851	0.555000|0.555000	0.69702|0.69702	GAA|GGA	IL6R	-	NULL		0.483	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	G	NM_000565		154427027	+1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.222	A
IGFN1	91156	genome.wustl.edu	37	1	201180949	201180949	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:201180949G>C	ENST00000335211.4	+	12	7058	c.6928G>C	c.(6928-6930)Gat>Cat	p.D2310H	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAGTTTGGAGGATTCTGGGTA	0.498																																																	0													47.0	38.0	40.0					1																	201180949		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.6928G>C	1.37:g.201180949G>C	ENSP00000334714:p.Asp2310His	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D2310H	ENST00000335211.4	37	c.6928	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	g	2.720	-0.266746	0.05754	.	.	ENSG00000163395	ENST00000335211	T	0.52295	0.67	1.74	0.601	0.17529	.	.	.	.	.	T	0.24160	0.0585	N	0.08118	0	0.09310	N	0.999992	.	.	.	.	.	.	T	0.23297	-1.0192	6	.	.	.	.	7.9018	0.29740	0.0:0.3419:0.6581:0.0	.	.	.	.	H	2310	ENSP00000334714:D2310H	.	D	+	1	0	IGFN1	199447572	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-0.221000	0.09202	-0.082000	0.12640	0.187000	0.17357	GAT	IGFN1	-	NULL		0.498	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201180949	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.003	C
IL9R	3581	genome.wustl.edu	37	X	155231060	155231060	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:155231060C>T	ENST00000244174.5	+	2	207				IL9R_ENST00000424344.3_Intron|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCCCCATTCCCACCTTTCC	0.587													c|||	46	0.0091853	0.028	0.0115	5008	,	,		20765	0.0		0.001	False		,,,				2504	0.0																0								C		73,4175		0,73,2051	217.0	213.0	215.0			-1.2	0.0	X	dbSNP_132	215	3,8435		0,3,4216	no	intron	IL9R	NM_002186.2		0,76,6267	TT,TC,CC		0.0356,1.7185,0.5991			155231060	76,12610	2124	4219	6343	SO:0001627	intron_variant	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-1511C>T	X.37:g.155231060C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVT0|Q14634|Q8WWU1|Q96TF0	RNA	SNP	-	NULL	ENST00000244174.5	37	NULL	CCDS14771.4	X																																																																																			IL9R	-	-		0.587	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	C	NM_002186		155231060	+1	no_errors	ENST00000489233	ensembl	human	known	70_37	rna	SNP	0.001	T
IMMT	10989	genome.wustl.edu	37	2	86408434	86408434	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86408434G>A	ENST00000410111.3	-	2	494	c.107C>T	c.(106-108)tCa>tTa	p.S36L	IMMT_ENST00000409051.2_Missense_Mutation_p.S36L|IMMT_ENST00000442664.2_Missense_Mutation_p.S36L|IMMT_ENST00000449247.2_Missense_Mutation_p.S36L|IMMT_ENST00000254636.5_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	36					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTGCCTGAAGTAGAGTA	0.448																																																	0													71.0	69.0	70.0					2																	86408434		1932	4132	6064	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.107C>T	2.37:g.86408434G>A	ENSP00000387262:p.Ser36Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.S36L	ENST00000410111.3	37	c.107	CCDS46355.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012475	0.75161	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.48201	1.24;1.12;1.11;0.82	5.55	5.55	0.83447	.	0.434585	0.22367	N	0.060986	T	0.37598	0.1009	N	0.14661	0.345	0.40742	D	0.98284	B;B;B;P;B;B;B;B;B	0.38335	0.294;0.087;0.194;0.627;0.446;0.234;0.294;0.078;0.194	B;B;B;B;B;B;B;B;B	0.38378	0.272;0.06;0.14;0.219;0.271;0.087;0.272;0.182;0.14	T	0.44847	-0.9301	10	0.87932	D	0	-0.9296	19.1266	0.93388	0.0:0.0:1.0:0.0	.	36;36;36;36;36;36;36;36;36	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	L	36	ENSP00000396899:S36L;ENSP00000387262:S36L;ENSP00000407788:S36L;ENSP00000387227:S36L	ENSP00000366526:S36L	S	-	2	0	IMMT	86261945	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.643000	0.83403	2.621000	0.88768	0.655000	0.94253	TCA	IMMT	-	NULL		0.448	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	G	NM_006839		86408434	-1	no_errors	ENST00000410111	ensembl	human	known	70_37	missense	SNP	0.998	A
INTU	27152	genome.wustl.edu	37	4	128627997	128627997	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:128627997G>A	ENST00000335251.6	+	12	2247	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	715					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTAGTGGAGGATCTGACAAT	0.473																																																	0													211.0	213.0	212.0					4																	128627997		2203	4300	6503	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2144G>A	4.37:g.128627997G>A	ENSP00000334003:p.Gly715Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G715E	ENST00000335251.6	37	c.2144	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	g	7.527	0.657967	0.14645	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.6	2.86	0.33363	.	0.314649	0.33272	N	0.005086	T	0.47746	0.1462	L	0.60455	1.87	0.80722	D	1	P	0.34462	0.454	B	0.31337	0.128	T	0.32640	-0.9899	9	0.17832	T	0.49	-2.1192	10.7266	0.46072	0.0:0.1271:0.6094:0.2636	.	715	Q9ULD6	PDZD6_HUMAN	E	715	.	ENSP00000334003:G715E	G	+	2	0	INTU	128847447	0.980000	0.34600	0.966000	0.40874	0.031000	0.12232	0.939000	0.28978	0.663000	0.31027	-0.847000	0.03039	GGA	INTU	-	NULL		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	G	XM_371707		128627997	+1	no_errors	ENST00000335251	ensembl	human	known	70_37	missense	SNP	0.927	A
IQGAP1	8826	genome.wustl.edu	37	15	90986629	90986629	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90986629G>A	ENST00000268182.5	+	9	956	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	278					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCCTCAGACAGAAAACTCAGA	0.393																																																	0													75.0	73.0	74.0					15																	90986629		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.832G>A	15.37:g.90986629G>A	ENSP00000268182:p.Glu278Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E278K	ENST00000268182.5	37	c.832	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281974	0.40394	.	.	ENSG00000140575	ENST00000268182	T	0.40476	1.03	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36648	-0.9739	10	0.07482	T	0.82	-26.0716	18.1082	0.89527	0.0:0.0:1.0:0.0	.	278	P46940	IQGA1_HUMAN	K	278	ENSP00000268182:E278K	ENSP00000268182:E278K	E	+	1	0	IQGAP1	88787633	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.353000	0.97080	2.751000	0.94390	0.650000	0.86243	GAA	IQGAP1	-	NULL		0.393	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90986629	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A
IQGAP1	8826	genome.wustl.edu	37	15	90986659	90986659	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90986659G>A	ENST00000268182.5	+	9	986	c.862G>A	c.(862-864)Gag>Aag	p.E288K	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	288					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATGTTTATGAGGAGCTGCT	0.358																																																	0													84.0	81.0	82.0					15																	90986659		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.862G>A	15.37:g.90986659G>A	ENSP00000268182:p.Glu288Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E288K	ENST00000268182.5	37	c.862	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.616494	0.96649	.	.	ENSG00000140575	ENST00000268182	T	0.40476	1.03	5.29	5.29	0.74685	.	0.059966	0.64402	D	0.000003	T	0.52435	0.1734	M	0.81239	2.535	0.80722	D	1	P	0.36753	0.568	B	0.39840	0.311	T	0.57347	-0.7827	10	0.51188	T	0.08	-31.1122	18.1082	0.89527	0.0:0.0:1.0:0.0	.	288	P46940	IQGA1_HUMAN	K	288	ENSP00000268182:E288K	ENSP00000268182:E288K	E	+	1	0	IQGAP1	88787663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.458000	0.97634	2.751000	0.94390	0.650000	0.86243	GAG	IQGAP1	-	NULL		0.358	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90986659	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	A
IQGAP2	10788	genome.wustl.edu	37	5	75960943	75960943	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:75960943G>C	ENST00000274364.6	+	22	2919	c.2622G>C	c.(2620-2622)ttG>ttC	p.L874F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.L370F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.L376F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L370F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	874					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAAAAGTTTGAGTAAGGAGA	0.343																																																	0													123.0	119.0	121.0					5																	75960943		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2622G>C	5.37:g.75960943G>C	ENSP00000274364:p.Leu874Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L874F	ENST00000274364.6	37	c.2622	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270569	0.59540	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	T;T;T;T;T;T	0.09350	3.67;3.6;3.65;2.99;3.6;3.6	5.41	1.6	0.23607	.	0.000000	0.64402	D	0.000001	T	0.28034	0.0691	M	0.78801	2.425	0.54753	D	0.999983	D;D;D;D	0.89917	0.999;1.0;0.999;0.978	D;D;D;D	0.87578	0.975;0.998;0.975;0.912	T	0.00717	-1.1596	10	0.87932	D	0	-12.7685	6.7912	0.23701	0.2048:0.0:0.6712:0.124	.	376;824;370;874	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	F	874;376;824;427;370;370	ENSP00000274364:L874F;ENSP00000442313:L376F;ENSP00000421097:L824F;ENSP00000422661:L427F;ENSP00000379535:L370F;ENSP00000426027:L370F	ENSP00000274364:L874F	L	+	3	2	IQGAP2	75996699	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	0.911000	0.28584	-0.001000	0.14495	-0.216000	0.12614	TTG	IQGAP2	-	NULL		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75960943	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	0.997	C
RGS11	8786	genome.wustl.edu	37	16	318797	318797	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:318797G>C	ENST00000397770.3	-	0	1892				RGS11_ENST00000316163.5_3'UTR|ITFG3_ENST00000301679.2_Missense_Mutation_p.R523T|ITFG3_ENST00000600536.1_Missense_Mutation_p.E490D|ITFG3_ENST00000442458.2_Missense_Mutation_p.E490D|ITFG3_ENST00000450082.2_Missense_Mutation_p.R523T			O94810	RGS11_HUMAN	regulator of G-protein signaling 11						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGACAGCGGAGAGGCTCTTGG	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	83986			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.*471C>G	16.37:g.318797G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R523T	ENST00000397770.3	37	c.1568	CCDS42088.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.391|1.391	-0.580774|-0.580774	0.03854|0.03854	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000442458|ENST00000301679;ENST00000450082	.|.	.|.	.|.	1.58|1.58	0.569|0.569	0.17340|0.17340	.|.	.|.	.|.	.|.	.|.	T|T	0.27832|0.27832	0.0685|0.0685	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.08055	.|0.003	T|T	0.27571|0.27571	-1.0070|-1.0070	5|7	0.87932|0.87932	D|D	0|0	.|.	3.8722|3.8722	0.09041|0.09041	0.2432:0.0:0.7568:0.0|0.2432:0.0:0.7568:0.0	.|.	.|523	.|Q9H0X4-2	.|.	D|T	490|523	.|.	ENSP00000397477:E490D|ENSP00000301679:R523T	E|R	+|+	3|2	2|0	ITFG3|ITFG3	258798|258798	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	-0.113000|-0.113000	0.10774|0.10774	0.232000|0.232000	0.21100|0.21100	0.313000|0.313000	0.20887|0.20887	GAG|AGA	ITFG3	-	NULL		0.657	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000139325.2	G			318797	+1	no_errors	ENST00000450082	ensembl	human	known	70_37	missense	SNP	0.002	C
ITGAM	3684	genome.wustl.edu	37	16	31273048	31273048	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:31273048G>A	ENST00000287497.8	+	2	139	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ITGAM_ENST00000544665.3_Missense_Mutation_p.E22K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	22					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTGGACACTGAAAACGCAAT	0.537																																																	0													75.0	68.0	70.0					16																	31273048		1989	4169	6158	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.64G>A	16.37:g.31273048G>A	ENSP00000287497:p.Glu22Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E22K	ENST00000287497.8	37	c.64	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632428	0.29068	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.72282	-0.64;-0.64	5.13	3.12	0.35913	.	.	.	.	.	T	0.62780	0.2456	L	0.55017	1.72	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.20384	0.029;0.029	T	0.51395	-0.8711	9	0.32370	T	0.25	.	7.5181	0.27612	0.206:0.0:0.794:0.0	.	22;22	Q4VAK1;P11215	.;ITAM_HUMAN	K	22	ENSP00000441691:E22K;ENSP00000287497:E22K	ENSP00000287497:E22K	E	+	1	0	ITGAM	31180549	0.455000	0.25736	0.007000	0.13788	0.450000	0.32258	1.237000	0.32695	0.529000	0.28599	0.650000	0.86243	GAA	ITGAM	-	NULL		0.537	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	G	NM_000632		31273048	+1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	0.050	A
ITSN1	6453	genome.wustl.edu	37	21	35201969	35201969	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:35201969G>A	ENST00000381318.3	+	27	3559	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.E1015K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1086K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E1049K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1086K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1086K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1020K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1091K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1091K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1091	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CACCGGCCCCGAGCAGCTCAC	0.502																																																	0													111.0	122.0	118.0					21																	35201969		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3271G>A	21.37:g.35201969G>A	ENSP00000370719:p.Glu1091Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1091K	ENST00000381318.3	37	c.3271	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.535075	0.96460	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.8	5.8	0.92144	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	L	0.48877	1.53	0.80722	D	1	P;D;D;D;P;D;D;D;D	0.89917	0.95;1.0;0.98;1.0;0.862;1.0;1.0;0.992;1.0	B;D;P;D;P;D;D;P;D	0.97110	0.362;0.999;0.771;0.997;0.622;0.999;0.997;0.761;1.0	T	0.65541	-0.6143	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	983;1054;978;1086;1020;1086;1091;1015;1049	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	1049;1091;1091;1091;1020;1086;1086;1020;1015;1086	ENSP00000382290:E1049K;ENSP00000370719:E1091K;ENSP00000370691:E1091K;ENSP00000370685:E1091K;ENSP00000382301:E1086K;ENSP00000382289:E1086K;ENSP00000382292:E1020K;ENSP00000382286:E1015K;ENSP00000387377:E1086K	ENSP00000370685:E1091K	E	+	1	0	ITSN1	34123839	1.000000	0.71417	0.961000	0.40146	0.670000	0.39368	9.441000	0.97557	2.732000	0.93576	0.650000	0.86243	GAG	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.502	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35201969	+1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A
IWS1	55677	genome.wustl.edu	37	2	128238691	128238691	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:128238691C>T	ENST00000295321.4	-	14	2648	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	797	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTCCTTATATCTGTGAACTTT	0.418																																																	0													208.0	187.0	194.0					2																	128238691		2203	4300	6503	SO:0001583	missense	55677			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2389G>A	2.37:g.128238691C>T	ENSP00000295321:p.Asp797Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.D797N	ENST00000295321.4	37	c.2389	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394426	0.83011	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.35421	1.31	5.35	5.35	0.76521	.	0.045645	0.85682	D	0.000000	T	0.42245	0.1194	M	0.62723	1.935	0.80722	D	1	B	0.23442	0.085	B	0.29353	0.101	T	0.22730	-1.0208	10	0.33141	T	0.24	-37.084	19.4441	0.94840	0.0:1.0:0.0:0.0	.	797	Q96ST2	IWS1_HUMAN	N	797;750	ENSP00000295321:D797N	ENSP00000295321:D797N	D	-	1	0	IWS1	127955161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.512000	0.81728	2.671000	0.90904	0.650000	0.86243	GAT	IWS1	-	NULL		0.418	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	C	NM_017969		128238691	-1	no_errors	ENST00000295321	ensembl	human	known	70_37	missense	SNP	1.000	T
JAK2	3717	genome.wustl.edu	37	9	5055739	5055739	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:5055739C>G	ENST00000381652.3	+	8	1501	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.S187*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.S336*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	336	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAAGAGGGTTCAAATGAAAGC	0.289		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													83.0	85.0	85.0					9																	5055739		2203	4296	6499	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1007C>G	9.37:g.5055739C>G	ENSP00000371067:p.Ser336*	Somatic		WXS	Illumina HiSeq	Phase_IV	O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S336*	ENST00000381652.3	37	c.1007	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.762053	0.98474	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.78	5.78	0.91487	.	0.300766	0.37304	N	0.002144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.5249	15.1293	0.72511	0.0:0.9305:0.0:0.0695	.	.	.	.	X	336;336;187	.	ENSP00000371067:S336X	S	+	2	0	JAK2	5045739	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	4.480000	0.60243	2.733000	0.93635	0.655000	0.94253	TCA	JAK2	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.289	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5055739	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	0.983	G
JUND	3727	genome.wustl.edu	37	19	18391505	18391505	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:18391505C>A	ENST00000252818.3	-	1	927	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	264					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TCCTGCGTGTCCATGTCGATG	0.706																																																	0													18.0	19.0	19.0					19																	18391505		2170	4233	6403	SO:0001583	missense	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.790G>T	19.37:g.18391505C>A	ENSP00000252818:p.Asp264Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53EK9	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.D264Y	ENST00000252818.3	37	c.790	CCDS32959.1	19	.	.	.	.	.	.	.	.	.	.	.	22.0	4.234311	0.79688	.	.	ENSG00000130522	ENST00000252818	T	0.26810	1.71	3.16	3.16	0.36331	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	T	0.45013	0.1321	M	0.69823	2.125	0.58432	D	0.999998	D	0.69078	0.997	P	0.62813	0.907	T	0.50808	-0.8784	10	0.87932	D	0	.	12.2195	0.54425	0.0:1.0:0.0:0.0	.	264	P17535	JUND_HUMAN	Y	264	ENSP00000252818:D264Y	ENSP00000252818:D264Y	D	-	1	0	JUND	18252505	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	6.973000	0.76116	1.790000	0.52503	0.450000	0.29827	GAC	JUND	-	superfamily_Euk_TF_DNA-bd,prints_Leuzip_Jun		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	C	NM_005354		18391505	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	missense	SNP	1.000	A
KANSL1	284058	genome.wustl.edu	37	17	44249450	44249450	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:44249450G>C	ENST00000262419.6	-	2	530	c.60C>G	c.(58-60)ttC>ttG	p.F20L	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000575318.1_Missense_Mutation_p.F20L|KANSL1_ENST00000572904.1_Missense_Mutation_p.F20L|KANSL1_ENST00000432791.1_Missense_Mutation_p.F20L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.F20L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	20					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGCCAGTTTGAACCGGATAT	0.567																																																	0													69.0	83.0	78.0					17																	44249450		2203	4300	6503	SO:0001583	missense	284058			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.60C>G	17.37:g.44249450G>C	ENSP00000262419:p.Phe20Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.F20L	ENST00000262419.6	37	c.60	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550386	0.86127	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.34072	1.38;1.38	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.73380	0.98;0.98	T	0.50154	-0.8861	10	0.87932	D	0	-10.9076	19.0558	0.93064	0.0:0.0:1.0:0.0	.	20;20	C9JHY2;Q7Z3B3	.;K1267_HUMAN	L	20	ENSP00000262419:F20L;ENSP00000387393:F20L	ENSP00000262419:F20L	F	-	3	2	KIAA1267	41605227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.209000	0.95087	2.840000	0.97914	0.655000	0.94253	TTC	KANSL1	-	NULL		0.567	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	G	NM_015443		44249450	-1	no_errors	ENST00000262419	ensembl	human	known	70_37	missense	SNP	1.000	C
KANSL1L	151050	genome.wustl.edu	37	2	210968836	210968836	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:210968836C>T	ENST00000281772.9	-	4	1683	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KANSL1L_ENST00000457374.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.E474K	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	474						histone acetyltransferase complex (GO:0000123)											ACCTGTTTTTCGATGTTTCGA	0.368																																																	0													95.0	89.0	91.0					2																	210968836		2203	4300	6503	SO:0001583	missense	151050			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1420G>A	2.37:g.210968836C>T	ENSP00000281772:p.Glu474Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.E474K	ENST00000281772.9	37	c.1420	CCDS33370.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.005338|5.005338	0.93287|0.93287	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73063|0.73063	0.3539|0.3539	L|L	0.56769|0.56769	1.78|1.78	0.51767|0.51767	D|D	0.999933|0.999933	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.80764|.	0.994;0.963;0.987;0.987|.	T|T	0.69320|0.69320	-0.5176|-0.5176	9|5	0.54805|.	T|.	0.06|.	.|.	19.6495|19.6495	0.95795|0.95795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	474;474;474;474|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	K|Q	474|168	.|.	ENSP00000281772:E474K|.	E|R	-|-	1|2	0|0	C2orf67|C2orf67	210677081|210677081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.610000|5.610000	0.67668|0.67668	2.717000|2.717000	0.92951|0.92951	0.585000|0.585000	0.79938|0.79938	GAA|CGA	KANSL1L	-	NULL		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	C	NM_152519		210968836	-1	no_errors	ENST00000281772	ensembl	human	known	70_37	missense	SNP	1.000	T
KATNB1	10300	genome.wustl.edu	37	16	57787337	57787337	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:57787337C>G	ENST00000379661.3	+	12	1475	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCCGCAGCCCCAGCAGCGAGG	0.652																																																	0													34.0	40.0	38.0					16																	57787337		2198	4298	6496	SO:0001819	synonymous_variant	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1083C>G	16.37:g.57787337C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	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.P361	ENST00000379661.3	37	c.1083	CCDS10788.1	16																																																																																			KATNB1	-	NULL		0.652	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3	C			57787337	+1	no_errors	ENST00000379661	ensembl	human	known	70_37	silent	SNP	1.000	G
KCNA1	3736	genome.wustl.edu	37	12	5020790	5020790	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:5020790C>T	ENST00000382545.3	+	2	1353	c.246C>T	c.(244-246)ttC>ttT	p.F82F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGTACTTCTTCGACCGCAACC	0.632																																																	0													65.0	66.0	66.0					12																	5020790		2203	4300	6503	SO:0001819	synonymous_variant	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.246C>T	12.37:g.5020790C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM83|Q3MIQ9	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.F82	ENST00000382545.3	37	c.246	CCDS8535.1	12																																																																																			KCNA1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020790	+1	no_errors	ENST00000382545	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNA4	3739	genome.wustl.edu	37	11	30034510	30034510	+	5'UTR	SNP	A	A	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:30034510A>G	ENST00000328224.6	-	0	949				KCNA4_ENST00000526518.1_5'UTR	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGAGTCTCTCAGACACCTATG	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.-285T>C	11.37:g.30034510A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000328224.6	37	NULL	CCDS41629.1	11																																																																																			KCNA4	-	-		0.453	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	A	NM_002233		30034510	-1	no_errors	ENST00000526518	ensembl	human	putative	70_37	rna	SNP	0.000	G
KCTD1	284252	genome.wustl.edu	37	18	24081043	24081043	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:24081043C>T	ENST00000408011.3	-	2	716	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	KCTD1_ENST00000317932.7_Missense_Mutation_p.E53K|KCTD1_ENST00000580059.1_Missense_Mutation_p.E53K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E53K|KCTD1_ENST00000417602.1_Missense_Mutation_p.E661K	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	53	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TACCTGGATTCAGGGTATTTG	0.498																																																	0													153.0	141.0	145.0					18																	24081043		2203	4300	6503	SO:0001583	missense	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.157G>A	18.37:g.24081043C>T	ENSP00000384367:p.Glu53Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E661K	ENST00000408011.3	37	c.1981	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.180797	0.94846	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.43294	0.95;0.95;0.95	5.68	5.68	0.88126	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.135466	0.64402	D	0.000003	T	0.45617	0.1351	L	0.27975	0.815	0.80722	D	1	P	0.39809	0.689	P	0.47705	0.555	T	0.43750	-0.9372	10	0.72032	D	0.01	.	19.7951	0.96477	0.0:1.0:0.0:0.0	.	53	Q719H9	KCTD1_HUMAN	K	53;661;53	ENSP00000314831:E53K;ENSP00000408405:E661K;ENSP00000384367:E53K	ENSP00000314831:E53K	E	-	1	0	KCTD1	22335041	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.412000	0.80091	2.698000	0.92095	0.561000	0.74099	GAA	KCTD1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.498	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	C	XM_209091		24081043	-1	no_errors	ENST00000417602	ensembl	human	known	70_37	missense	SNP	1.000	T
KCTD4	386618	genome.wustl.edu	37	13	45768695	45768695	+	Missense_Mutation	SNP	C	C	T	rs562563207	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:45768695C>T	ENST00000379108.1	-	1	157	c.8G>A	c.(7-9)cGt>cAt	p.R3H	KCTD4_ENST00000405872.1_Missense_Mutation_p.R3H|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	3					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GTTTATTTTACGCTCCATTTT	0.393													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21233	0.0		0.0	False		,,,				2504	0.001																0													153.0	145.0	148.0					13																	45768695		2203	4300	6503	SO:0001583	missense	386618			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.8G>A	13.37:g.45768695C>T	ENSP00000368402:p.Arg3His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0P9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R3H	ENST00000379108.1	37	c.8	CCDS9396.1	13	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445492	0.43429	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.55760	0.5;0.5	5.5	5.5	0.81552	.	0.117279	0.64402	N	0.000011	T	0.39682	0.1087	N	0.24115	0.695	0.53005	D	0.999965	D	0.64830	0.994	B	0.38616	0.277	T	0.34054	-0.9844	10	0.38643	T	0.18	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	3	Q8WVF5	KCTD4_HUMAN	H	3	ENSP00000368402:R3H;ENSP00000385144:R3H	ENSP00000368402:R3H	R	-	2	0	KCTD4	44666695	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.177000	0.58276	2.749000	0.94314	0.585000	0.79938	CGT	KCTD4	-	NULL		0.393	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD4	HGNC	protein_coding	OTTHUMT00000044757.1	C			45768695	-1	no_errors	ENST00000379108	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM4E	390245	genome.wustl.edu	37	11	94759225	94759225	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:94759225C>G	ENST00000450979.2	+	1	804	c.504C>G	c.(502-504)gtC>gtG	p.V168V		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	168	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|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(1)|endometrium(7)|kidney(1)|lung(3)	12						GTGGGGTTGTCATCGAGGGTG	0.498																																																	0													40.0	37.0	38.0					11																	94759225		692	1590	2282	SO:0001819	synonymous_variant	390245			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.504C>G	11.37:g.94759225C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.V168	ENST00000450979.2	37	c.504	CCDS44713.1	11																																																																																			KDM4E	-	smart_JmjC_dom,pfscan_JmjC_dom		0.498	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	C	NM_001161630		94759225	+1	no_errors	ENST00000450979	ensembl	human	known	70_37	silent	SNP	0.823	G
KDM5A	5927	genome.wustl.edu	37	12	465702	465702	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:465702G>C	ENST00000399788.2	-	6	1036	c.674C>G	c.(673-675)tCa>tGa	p.S225*	KDM5A_ENST00000382815.4_Splice_Site_p.S225*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	225					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCAGATTCTGACTAAAAAAT	0.383			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													68.0	64.0	65.0					12																	465702		1816	4079	5895	SO:0001630	splice_region_variant	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.673-1C>G	12.37:g.465702G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S225*	ENST00000399788.2	37	c.674	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.092525	0.98648	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	.	.	.	5.77	5.77	0.91146	.	0.363638	0.23382	N	0.048781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.0358	13.4801	0.61330	0.0742:0.0:0.9258:0.0	.	.	.	.	X	184;225;225	.	ENSP00000372265:S225X	S	-	2	0	KDM5A	335963	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.903000	0.63272	2.712000	0.92718	0.655000	0.94253	TCA	KDM5A	-	NULL		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056	Nonsense_Mutation	465702	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KDSR	2531	genome.wustl.edu	37	18	61027005	61027005	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:61027005C>G	ENST00000406396.3	-	3	610	c.219G>C	c.(217-219)aaG>aaC	p.K73N	KDSR_ENST00000326575.5_Missense_Mutation_p.K73N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	73					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CAATTTCTTTCTTTGCCTGCA	0.358																																																	0													129.0	118.0	122.0					18																	61027005		2203	4299	6502	SO:0001583	missense	2531				CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.219G>C	18.37:g.61027005C>G	ENSP00000385083:p.Lys73Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Y1|B4DMX0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.K73N	ENST00000406396.3	37	c.219	CCDS11982.1	18	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099242	0.76983	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.88124	-2.34;-2.34	5.41	5.41	0.78517	NAD(P)-binding domain (1);	0.093070	0.64402	D	0.000001	D	0.88919	0.6568	L	0.41710	1.295	0.58432	D	0.999999	D;P	0.76494	0.999;0.837	D;P	0.69824	0.966;0.624	D	0.86244	0.1645	10	0.27082	T	0.32	.	11.7937	0.52084	0.0:0.9192:0.0:0.0808	.	73;73	B4DMX0;Q06136	.;KDSR_HUMAN	N	73	ENSP00000385083:K73N;ENSP00000312939:K73N	ENSP00000312939:K73N	K	-	3	2	KDSR	59177985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.459000	0.66685	2.534000	0.85438	0.591000	0.81541	AAG	KDSR	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.358	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDSR	HGNC	protein_coding	OTTHUMT00000256200.2	C			61027005	-1	no_errors	ENST00000406396	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0556	23247	genome.wustl.edu	37	16	27781220	27781220	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:27781220C>G	ENST00000261588.4	+	21	4033	c.4014C>G	c.(4012-4014)gtC>gtG	p.V1338V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1338						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCTGTGCGTCTCCCCGCCAG	0.562																																																	0													128.0	133.0	131.0					16																	27781220		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4014C>G	16.37:g.27781220C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	Silent	SNP	superfamily_Thaumatin	p.V1338	ENST00000261588.4	37	c.4014	CCDS32415.1	16																																																																																			KIAA0556	-	NULL		0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27781220	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	silent	SNP	1.000	G
KIAA1731	85459	genome.wustl.edu	37	11	93461907	93461907	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:93461907G>T	ENST00000325212.6	+	25	7384	c.7222G>T	c.(7222-7224)Gat>Tat	p.D2408Y	KIAA1731_ENST00000531700.1_Missense_Mutation_p.D588Y|KIAA1731_ENST00000411936.1_Missense_Mutation_p.D2408Y|KIAA1731_ENST00000344196.4_Missense_Mutation_p.D588Y|SNORA25_ENST00000384384.1_RNA|SNORD6_ENST00000365444.1_RNA|TAF1D_ENST00000546088.1_5'Flank|SNORA32_ENST00000384072.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2408						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCACCACTGATACCAGTAT	0.363																																																	0													131.0	117.0	121.0					11																	93461907		692	1591	2283	SO:0001583	missense	85459			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.7222G>T	11.37:g.93461907G>T	ENSP00000316681:p.Asp2408Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.D2408Y	ENST00000325212.6	37	c.7222	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350923	0.82132	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.19938	2.11;2.11	5.79	5.79	0.91817	.	.	.	.	.	T	0.44052	0.1275	L	0.50333	1.59	0.44985	D	0.998005	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.20075	-1.0286	9	0.87932	D	0	.	18.7954	0.91991	0.0:0.0:1.0:0.0	.	2408;2408;588	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	Y	2408;2408;588;588;420	ENSP00000316681:D2408Y;ENSP00000406505:D2408Y	ENSP00000316681:D2408Y	D	+	1	0	KIAA1731	93101555	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	6.250000	0.72435	2.718000	0.92993	0.655000	0.94253	GAT	KIAA1731	-	NULL		0.363	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93461907	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.997	T
KIAA1731	85459	genome.wustl.edu	37	11	93463406	93463406	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:93463406G>C	ENST00000325212.6	+	30	7939	c.7777G>C	c.(7777-7779)Gag>Cag	p.E2593Q	KIAA1731_ENST00000531700.1_Missense_Mutation_p.E773Q|SNORA1_ENST00000384107.1_RNA|KIAA1731_ENST00000411936.1_Missense_Mutation_p.E2594Q|SNORA8_ENST00000384574.1_RNA|KIAA1731_ENST00000344196.4_Missense_Mutation_p.E773Q|SNORA25_ENST00000384384.1_RNA|SNORD6_ENST00000365444.1_RNA|TAF1D_ENST00000546088.1_5'Flank|SNORD5_ENST00000459342.1_RNA|SNORA32_ENST00000384072.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2593	ALMS motif.					centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAAACACTAGAGAAACTTCG	0.308																																																	0													134.0	113.0	119.0					11																	93463406		692	1591	2283	SO:0001583	missense	85459			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.7777G>C	11.37:g.93463406G>C	ENSP00000316681:p.Glu2593Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.E2594Q	ENST00000325212.6	37	c.7780	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256591	0.59321	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700	T;T	0.13657	2.57;2.57	5.2	3.16	0.36331	.	.	.	.	.	T	0.13543	0.0328	L	0.43152	1.355	0.80722	D	1	B;B	0.29646	0.077;0.253	B;B	0.34242	0.037;0.178	T	0.06338	-1.0832	9	0.56958	D	0.05	.	8.8255	0.35052	0.0:0.1627:0.6697:0.1676	.	2593;773	Q9C0D2;Q9C0D2-2	K1731_HUMAN;.	Q	2593;2594;773;773	ENSP00000316681:E2593Q;ENSP00000406505:E2594Q	ENSP00000316681:E2593Q	E	+	1	0	KIAA1731	93103054	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	1.855000	0.39378	1.279000	0.44446	0.655000	0.94253	GAG	KIAA1731	-	NULL		0.308	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93463406	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.990	C
KIF21B	23046	genome.wustl.edu	37	1	200974481	200974481	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:200974481G>A	ENST00000422435.2	-	5	1003	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KIF21B_ENST00000461742.2_Silent_p.F229F|KIF21B_ENST00000360529.5_Silent_p.F229F|KIF21B_ENST00000332129.2_Silent_p.F229F	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGATGGTGAAGATGGCGT	0.647																																																	0													100.0	87.0	92.0					1																	200974481		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.687C>T	1.37:g.200974481G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.F229	ENST00000422435.2	37	c.687	CCDS58056.1	1																																																																																			KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	G	XM_371332		200974481	-1	no_errors	ENST00000422435	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF4A	24137	genome.wustl.edu	37	X	69594046	69594046	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:69594046G>C	ENST00000374403.3	+	16	1802	c.1720G>C	c.(1720-1722)Gaa>Caa	p.E574Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E574Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	574					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGCAAAAGGAAAAGGAAGA	0.338																																																	0													72.0	64.0	67.0					X																	69594046		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1720G>C	X.37:g.69594046G>C	ENSP00000363524:p.Glu574Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E574Q	ENST00000374403.3	37	c.1720	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512068	0.64522	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74842	-0.88;-0.88	4.4	3.54	0.40534	.	0.000000	0.53938	D	0.000050	T	0.81819	0.4903	M	0.79123	2.44	0.80722	D	1	D;D	0.61697	0.99;0.986	P;P	0.57425	0.728;0.82	T	0.82997	-0.0179	10	0.87932	D	0	.	10.6998	0.45920	0.0956:0.0:0.9044:0.0	.	574;574	O95239;O95239-2	KIF4A_HUMAN;.	Q	574	ENSP00000363509:E574Q;ENSP00000363524:E574Q	ENSP00000363509:E574Q	E	+	1	0	KIF4A	69510771	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	8.615000	0.90920	0.866000	0.35629	0.523000	0.50628	GAA	KIF4A	-	NULL		0.338	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69594046	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF5B	3799	genome.wustl.edu	37	10	32337443	32337443	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:32337443T>G	ENST00000302418.4	-	2	620	c.163A>C	c.(163-165)Agc>Cgc	p.S55R		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	55	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGAGATGTGCTTGACTGGAAC	0.333			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													132.0	128.0	129.0					10																	32337443		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.163A>C	10.37:g.32337443T>G	ENSP00000307078:p.Ser55Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S55R	ENST00000302418.4	37	c.163	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015120	0.54468	.	.	ENSG00000170759	ENST00000302418	T	0.73047	-0.71	5.61	5.61	0.85477	Kinesin, motor domain (4);	0.275866	0.45606	D	0.000357	T	0.62696	0.2449	L	0.32530	0.975	0.34220	D	0.675319	B	0.26483	0.15	B	0.31442	0.13	T	0.71705	-0.4512	10	0.62326	D	0.03	.	12.336	0.55067	0.0:0.0:0.1409:0.8591	.	55	P33176	KINH_HUMAN	R	55	ENSP00000307078:S55R	ENSP00000307078:S55R	S	-	1	0	KIF5B	32377449	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.162000	0.58177	2.144000	0.66660	0.482000	0.46254	AGC	KIF5B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	T	NM_004521		32337443	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	G
KIFAP3	22920	genome.wustl.edu	37	1	170001044	170001044	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:170001044T>C	ENST00000361580.2	-	8	1051	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197R|KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231R|KIFAP3_ENST00000367765.1_Missense_Mutation_p.Q235R	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	275					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCTGTTCCTGTTTTACCAC	0.348																																																	0													188.0	193.0	191.0					1																	170001044		2202	4299	6501	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.824A>G	1.37:g.170001044T>C	ENSP00000354560:p.Gln275Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q275R	ENST00000361580.2	37	c.824	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550459	0.86127	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.86097	2.795	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.74917	-0.3501	9	.	.	.	-14.2731	15.4307	0.75092	0.0:0.0:0.0:1.0	.	275	Q92845	KIFA3_HUMAN	R	275;235;231;197	ENSP00000354560:Q275R;ENSP00000356739:Q235R;ENSP00000356741:Q231R;ENSP00000444622:Q197R	.	Q	-	2	0	KIFAP3	168267668	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.461000	0.80834	2.125000	0.65367	0.459000	0.35465	CAG	KIFAP3	-	superfamily_ARM-type_fold		0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	T	NM_014970		170001044	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	C
KIR3DL2	3812	genome.wustl.edu	37	19	55378121	55378121	+	Missense_Mutation	SNP	G	G	A	rs141407209		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55378121G>A	ENST00000326321.3	+	9	1336	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E418K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E435K|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	435					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCCAAATGCTGAGCCCAGATC	0.522																																																	0								G	LYS/GLU	0,4406		0,0,2203	276.0	271.0	273.0		1303	-1.5	0.0	19	dbSNP_134	273	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIR3DL2	NM_006737.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	435/456	55378121	2,13004	2203	4300	6503	SO:0001583	missense	3812			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1303G>A	19.37:g.55378121G>A	ENSP00000325525:p.Glu435Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E435K	ENST00000326321.3	37	c.1303	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	G	7.661	0.685020	0.14973	0.0	2.33E-4	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00477	7.31;7.28;7.14	1.54	-1.54	0.08584	.	.	.	.	.	T	0.00695	0.0023	L	0.52364	1.645	0.09310	N	1	B;B;D	0.63880	0.019;0.004;0.993	B;B;D	0.77557	0.02;0.008;0.99	T	0.52480	-0.8570	9	0.42905	T	0.14	.	2.1522	0.03803	0.4212:0.3286:0.2503:0.0	.	418;435;435	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	K	435;435;418	ENSP00000384528:E435K;ENSP00000325525:E435K;ENSP00000270442:E418K	ENSP00000384528:E435K	E	+	1	0	KIR3DL1;KIR3DL2	60069933	0.000000	0.05858	0.013000	0.15412	0.019000	0.09904	-1.728000	0.01858	-0.063000	0.13065	-0.451000	0.05528	GAG	KIR3DL2	-	NULL		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	G			55378121	+1	no_errors	ENST00000326321	ensembl	human	known	70_37	missense	SNP	0.013	A
KLKB1	3818	genome.wustl.edu	37	4	187157959	187157959	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187157959G>C	ENST00000264690.6	+	5	540	c.353G>C	c.(352-354)gGa>gCa	p.G118A	KLKB1_ENST00000513864.1_Missense_Mutation_p.G118A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	118	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATTTATAAAGGAGTTGATATG	0.368																																																	0													132.0	132.0	132.0					4																	187157959		2203	4300	6503	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.353G>C	4.37:g.187157959G>C	ENSP00000264690:p.Gly118Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.G118A	ENST00000264690.6	37	c.353	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816420|2.816420	0.50527|0.50527	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715	.|D;D;D;D;D	.|0.91521	.|-2.68;-2.68;-2.68;-2.86;-2.68	4.91|4.91	3.17|3.17	0.36434|0.36434	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.94614|0.94614	0.8264|0.8264	M|M	0.85373|0.85373	2.75|2.75	0.34652|0.34652	D|D	0.72178|0.72178	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.995	D|D	0.95374|0.95374	0.8467|0.8467	5|10	.|0.72032	.|D	.|0.01	.|.	8.4917|8.4917	0.33104|0.33104	0.0821:0.154:0.7639:0.0|0.0821:0.154:0.7639:0.0	.|.	.|80;118	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	Q|A	166|118;118;80;80;118;80	.|ENSP00000412366:G118A;ENSP00000264690:G118A;ENSP00000415563:G80A;ENSP00000392231:G80A;ENSP00000424469:G118A	.|ENSP00000264690:G118A	E|G	+|+	1|2	0|0	KLKB1|KLKB1	187394953|187394953	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.493000|0.493000	0.33554|0.33554	3.053000|3.053000	0.49901|0.49901	0.651000|0.651000	0.30788|0.30788	0.650000|0.650000	0.86243|0.86243	GAG|GGA	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	G	NM_000892		187157959	+1	no_errors	ENST00000264690	ensembl	human	known	70_37	missense	SNP	0.933	C
KRT4	3851	genome.wustl.edu	37	12	53207817	53207817	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:53207817C>G	ENST00000551956.1	-	1	518	c.26G>C	c.(25-27)cGa>cCa	p.R9P	KRT4_ENST00000293774.4_Missense_Mutation_p.R83P|KRT4_ENST00000458244.2_Missense_Mutation_p.R9P			P19013	K2C4_HUMAN	keratin 4	9	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGGCCCGCCTCGGACACACTG	0.642																																					Pancreas(190;284 2995 41444 45903)												0													43.0	50.0	48.0					12																	53207817		1962	4163	6125	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.26G>C	12.37:g.53207817C>G	ENSP00000448220:p.Arg9Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R83P	ENST00000551956.1	37	c.248	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294989	0.60086	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.83591	-1.56;-1.6;-1.74	4.58	4.58	0.56647	.	0.000000	0.41097	D	0.000944	D	0.89083	0.6614	M	0.77486	2.375	0.37144	D	0.901837	.	.	.	.	.	.	D	0.89985	0.4103	8	0.40728	T	0.16	.	16.4086	0.83699	0.0:1.0:0.0:0.0	.	.	.	.	P	9;83;9	ENSP00000448220:R9P;ENSP00000293774:R83P;ENSP00000387904:R9P	ENSP00000293774:R83P	R	-	2	0	KRT4	51494084	0.000000	0.05858	0.345000	0.25642	0.733000	0.41908	-0.181000	0.09740	2.833000	0.97629	0.650000	0.86243	CGA	KRT4	-	NULL		0.642	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	C	NM_002272		53207817	-1	no_errors	ENST00000293774	ensembl	human	known	70_37	missense	SNP	0.817	G
KNTC1	9735	genome.wustl.edu	37	12	123062283	123062283	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:123062283G>C	ENST00000333479.7	+	31	2963	c.2786G>C	c.(2785-2787)aGa>aCa	p.R929T	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	929					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCAGAAAGAGTCATCATA	0.388																																																	0													93.0	90.0	91.0					12																	123062283		1842	4099	5941	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2786G>C	12.37:g.123062283G>C	ENSP00000328236:p.Arg929Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R929T	ENST00000333479.7	37	c.2786	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843995	0.91197	.	.	ENSG00000184445	ENST00000333479	T	0.15834	2.39	5.84	5.84	0.93424	.	0.050970	0.85682	D	0.000000	T	0.43366	0.1244	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14337	-1.0476	10	0.72032	D	0.01	-23.5777	20.1346	0.98019	0.0:0.0:1.0:0.0	.	929	P50748	KNTC1_HUMAN	T	929	ENSP00000328236:R929T	ENSP00000328236:R929T	R	+	2	0	KNTC1	121628236	1.000000	0.71417	0.928000	0.36995	0.992000	0.81027	7.558000	0.82253	2.765000	0.95021	0.655000	0.94253	AGA	KNTC1	-	NULL		0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123062283	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.995	C
KRTAP10-2	386679	genome.wustl.edu	37	21	45970674	45970674	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:45970674G>C	ENST00000391621.1	-	1	714	c.668C>G	c.(667-669)tCc>tGc	p.S223C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	223	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TCTGCAGCAGGAGGAGGTGCA	0.622																																																	0													101.0	109.0	106.0					21																	45970674		2203	4300	6503	SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.668C>G	21.37:g.45970674G>C	ENSP00000375479:p.Ser223Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q70LJ5	Missense_Mutation	SNP	NULL	p.S223C	ENST00000391621.1	37	c.668	CCDS42955.1	21	.	.	.	.	.	.	.	.	.	.	g	8.987	0.976796	0.18812	.	.	ENSG00000205445	ENST00000391621	T	0.01963	4.53	2.99	-1.7	0.08159	.	.	.	.	.	T	0.03695	0.0105	M	0.77820	2.39	0.18873	N	0.999986	B	0.12630	0.006	B	0.13407	0.009	T	0.32561	-0.9902	9	0.87932	D	0	.	5.4349	0.16476	0.2264:0.4942:0.2794:0.0	.	223	P60368	KR102_HUMAN	C	223	ENSP00000375479:S223C	ENSP00000375479:S223C	S	-	2	0	KRTAP10-2	44795102	0.879000	0.30193	0.003000	0.11579	0.028000	0.11728	1.339000	0.33885	-0.787000	0.04510	-0.360000	0.07572	TCC	KRTAP10-2	-	NULL		0.622	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-2	HGNC	protein_coding	OTTHUMT00000128027.1	G			45970674	-1	no_errors	ENST00000391621	ensembl	human	known	70_37	missense	SNP	0.026	C
KRTAP4-12	83755	genome.wustl.edu	37	17	39280025	39280025	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:39280025C>T	ENST00000394014.1	-	1	394	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	117	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcagctggggcggcagcaAGT	0.677																																																	0													31.0	39.0	36.0					17																	39280025		2181	4265	6446	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.350G>A	17.37:g.39280025C>T	ENSP00000377582:p.Arg117His	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R117H	ENST00000394014.1	37	c.350	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369497	0.42003	.	.	ENSG00000213416	ENST00000394014	T	0.01495	4.83	4.31	2.18	0.27775	.	2.803460	0.06150	N	0.673914	T	0.08802	0.0218	M	0.92169	3.28	0.09310	N	1	D	0.54207	0.965	P	0.52710	0.707	T	0.19679	-1.0298	10	0.62326	D	0.03	.	3.4585	0.07524	0.1953:0.5671:0.0:0.2376	.	117	Q9BQ66	KR412_HUMAN	H	117	ENSP00000377582:R117H	ENSP00000377582:R117H	R	-	2	0	KRTAP4-12	36533551	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	-0.603000	0.05674	0.323000	0.23307	0.484000	0.47621	CGC	KRTAP4-12	-	pfam_Keratin-assoc		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	C			39280025	-1	no_errors	ENST00000394014	ensembl	human	known	70_37	missense	SNP	0.002	T
LAMB3	3914	genome.wustl.edu	37	1	209807944	209807944	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:209807944C>T	ENST00000356082.4	-	6	546	c.412G>A	c.(412-414)Gac>Aac	p.D138N	LAMB3_ENST00000391911.1_Missense_Mutation_p.D138N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D138N	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	138	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TTACCGAAGTCTGAGGAGCGC	0.662																																																	0													54.0	45.0	48.0					1																	209807944		2203	4300	6503	SO:0001583	missense	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.412G>A	1.37:g.209807944C>T	ENSP00000348384:p.Asp138Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.D138N	ENST00000356082.4	37	c.412	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.391311	0.95988	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.42	4.42	0.53409	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94852	0.8014	10	0.87932	D	0	.	16.8917	0.86089	0.0:1.0:0.0:0.0	.	138	Q13751	LAMB3_HUMAN	N	138	ENSP00000375778:D138N;ENSP00000348384:D138N;ENSP00000355997:D138N;ENSP00000388960:D138N	ENSP00000348384:D138N	D	-	1	0	LAMB3	207874567	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	5.250000	0.65432	2.310000	0.77875	0.558000	0.71614	GAC	LAMB3	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.662	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209807944	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	missense	SNP	0.999	T
LAS1L	81887	genome.wustl.edu	37	X	64741776	64741776	+	Intron	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:64741776G>C	ENST00000374811.3	-	11	1489				LAS1L_ENST00000374807.5_Intron|LAS1L_ENST00000312391.8_Intron|LAS1L_ENST00000374804.5_Intron	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						aggaaatggagagtgttgagt	0.463																																																	0																																										SO:0001627	intron_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1448+1663C>G	X.37:g.64741776G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	RNA	SNP	-	NULL	ENST00000374811.3	37	NULL	CCDS14381.1	X																																																																																			LAS1L	-	-		0.463	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	G	NM_031206		64741776	-1	no_errors	ENST00000484069	ensembl	human	known	70_37	rna	SNP	0.016	C
LIF	3976	genome.wustl.edu	37	22	30639682	30639682	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:30639682C>T	ENST00000249075.3	-	3	722	c.567G>A	c.(565-567)ggG>ggA	p.G189G	LIF_ENST00000403987.3_3'UTR|RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	189					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCTTATACTTCCCCAGGAGTT	0.567																																																	0													140.0	129.0	132.0					22																	30639682		2203	4300	6503	SO:0001819	synonymous_variant	3976				CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.567G>A	22.37:g.30639682C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCW7|B5MC23|Q52LZ2	Silent	SNP	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF	p.G189	ENST00000249075.3	37	c.567	CCDS13872.1	22																																																																																			LIF	-	pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF		0.567	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIF	HGNC	protein_coding	OTTHUMT00000320508.1	C	NM_002309		30639682	-1	no_errors	ENST00000249075	ensembl	human	known	70_37	silent	SNP	1.000	T
LIG1	3978	genome.wustl.edu	37	19	48619186	48619186	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:48619186G>A	ENST00000263274.7	-	27	3039	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.R806W|LIG1_ENST00000427526.2_Missense_Mutation_p.R843W|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	874					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.R874W(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGAATAAACCGAGGGAAGCGA	0.652								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	lung(1)											46.0	42.0	43.0					19																	48619186		2203	4300	6503	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2620C>T	19.37:g.48619186G>A	ENSP00000263274:p.Arg874Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.R874W	ENST00000263274.7	37	c.2620	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442739	0.83993	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.70164	-0.46;-0.46;-0.46	4.9	3.84	0.44239	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.061233	0.64402	D	0.000002	D	0.88691	0.6505	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91991	0.5603	10	0.87932	D	0	-9.1696	12.5114	0.56007	0.0:0.0:0.8317:0.1683	.	843;806;874	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	W	874;843;806	ENSP00000263274:R874W;ENSP00000442841:R843W;ENSP00000441531:R806W	ENSP00000263274:R874W	R	-	1	2	LIG1	53310998	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.336000	0.72954	1.163000	0.42636	0.655000	0.94253	CGG	LIG1	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep		0.652	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	G	NM_000234		48619186	-1	no_errors	ENST00000263274	ensembl	human	known	70_37	missense	SNP	1.000	A
LILRB3	11025	genome.wustl.edu	37	19	54723752	54723752	+	Intron	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:54723752G>C	ENST00000391750.1	-	8	1446				LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_Intron|LILRB3_ENST00000245620.9_Intron|LILRB3_ENST00000407860.2_Nonsense_Mutation_p.S449*|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Nonsense_Mutation_p.S431*|LILRB3_ENST00000424807.1_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGGGCCTGACCCTGGGGG	0.667																																																	0																																										SO:0001627	intron_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1309+272C>G	19.37:g.54723752G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1P3|C9JIP1|O15471|Q86U49	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S449*	ENST00000391750.1	37	c.1346	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482288	0.63962	.	.	ENSG00000204577	ENST00000346401;ENST00000407860	.	.	.	2.88	0.697	0.18081	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.9854	0.14187	0.2948:0.0:0.7052:0.0	.	.	.	.	X	431;449	.	ENSP00000345184:S431X	S	-	2	0	LILRB3	59415564	0.012000	0.17670	0.000000	0.03702	0.006000	0.05464	0.920000	0.28705	0.261000	0.21753	0.591000	0.81541	TCA	LILRB3	-	NULL		0.667	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	G	NM_006864		54723752	-1	no_errors	ENST00000407860	ensembl	human	known	70_37	nonsense	SNP	0.000	C
LILRA6	79168	genome.wustl.edu	37	19	54745682	54745682	+	Missense_Mutation	SNP	C	C	T	rs111666280	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:54745682C>T	ENST00000396365.2	-	4	467	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	LILRA6_ENST00000391735.3_Missense_Mutation_p.R143Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.R143Q|LILRA6_ENST00000419410.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000440558.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000245621.5_Missense_Mutation_p.R143Q	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	143					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGCCACATCGGAGGGTCAT	0.567																																																	0													29.0	50.0	43.0					19																	54745682		2122	4289	6411	SO:0001583	missense	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.428G>A	19.37:g.54745682C>T	ENSP00000379651:p.Arg143Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R143Q	ENST00000396365.2	37	c.428	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848058	0.02651	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;4.09;2.65;2.65	3.38	-6.77	0.01727	Immunoglobulin-like fold (1);	0.513077	0.18054	N	0.153187	T	0.02047	0.0064	N	0.01640	-0.785	0.09310	N	1	B;B;B;B;B;B	0.33000	0.046;0.003;0.332;0.049;0.046;0.393	B;B;B;B;B;B	0.32342	0.008;0.002;0.144;0.015;0.015;0.014	T	0.37454	-0.9705	10	0.02654	T	1	.	0.493	0.00567	0.2783:0.2174:0.3072:0.1971	.	143;143;143;143;143;143	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	Q	143	ENSP00000390120:R143Q;ENSP00000270464:R143Q;ENSP00000411227:R143Q;ENSP00000375615:R143Q;ENSP00000379651:R143Q;ENSP00000245621:R143Q	ENSP00000245621:R143Q	R	-	2	0	LILRA6	59437494	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-1.554000	0.02172	-1.307000	0.02321	0.162000	0.16502	CGA	LILRA6	-	NULL		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	C	NM_024318		54745682	-1	no_errors	ENST00000270464	ensembl	human	known	70_37	missense	SNP	0.001	T
LILRA2	11027	genome.wustl.edu	37	19	55086305	55086305	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:55086305C>T	ENST00000251377.3	+	5	593	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.L154L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L142L|LILRA2_ENST00000251376.3_Silent_p.L154L|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	154	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGGCTTCATTCTGTGTAAGGA	0.597																																																	0													175.0	161.0	166.0					19																	55086305		2203	4300	6503	SO:0001819	synonymous_variant	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.460C>T	19.37:g.55086305C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.L154	ENST00000251377.3	37	c.460	CCDS46179.1	19																																																																																			LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	C			55086305	+1	no_errors	ENST00000251377	ensembl	human	known	70_37	silent	SNP	0.001	T
LIMCH1	22998	genome.wustl.edu	37	4	41635754	41635754	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:41635754C>T	ENST00000313860.7	+	9	989				LIMCH1_ENST00000512946.1_Intron|LIMCH1_ENST00000514096.1_Intron|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000381753.4_Intron|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000508501.1_Intron|LIMCH1_ENST00000503057.1_Silent_p.F673F|LIMCH1_ENST00000509277.1_Intron|LIMCH1_ENST00000396595.3_Intron|LIMCH1_ENST00000513024.1_Intron|LIMCH1_ENST00000511496.1_Intron	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAAACCAGTTCCTTCCAGTTC	0.458																																																	0																																										SO:0001627	intron_variant	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.936-5195C>T	4.37:g.41635754C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F673	ENST00000313860.7	37	c.2019	CCDS33977.1	4																																																																																			LIMCH1	-	NULL		0.458	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	C	NM_014988		41635754	+1	no_errors	ENST00000503057	ensembl	human	known	70_37	silent	SNP	1.000	T
LINC00238	440184	genome.wustl.edu	37	14	66958355	66958355	+	lincRNA	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:66958355G>T	ENST00000556874.1	-	0	643				LINC00238_ENST00000389594.3_RNA																							AAAAGCAACAGAGGAAAATGG	0.373																																																	0																																												440184																															14.37:g.66958355G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000556874.1	37	NULL		14																																																																																			LINC00238	-	-		0.373	RP11-72M17.1-001	KNOWN	basic	lincRNA	LINC00238	HGNC	lincRNA	OTTHUMT00000412209.1	G			66958355	+1	no_errors	ENST00000359454	ensembl	human	known	70_37	rna	SNP	1.000	T
LMAN1	3998	genome.wustl.edu	37	18	56998762	56998762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:56998762C>A	ENST00000251047.5	-	12	2101	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	462					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TTCGGCTTTTCATTTGATGGC	0.333																																																	0													141.0	133.0	136.0					18																	56998762		2203	4300	6503	SO:0001587	stop_gained	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1384G>T	18.37:g.56998762C>A	ENSP00000251047:p.Glu462*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Nonsense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.E462*	ENST00000251047.5	37	c.1384	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972017	0.92919	.	.	ENSG00000074695	ENST00000251047	.	.	.	6.02	6.02	0.97574	.	0.094831	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-26.4334	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000251047:E462X	E	-	1	0	LMAN1	55149742	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	6.792000	0.75125	2.865000	0.98341	0.655000	0.94253	GAA	LMAN1	-	NULL		0.333	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	C	NM_005570		56998762	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LMAN1L	79748	genome.wustl.edu	37	15	75105286	75105286	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:75105286C>T	ENST00000309664.5	+	1	230	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R31C	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	31	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCCTCTACGCAGGTTTGA	0.617																																																	0													118.0	108.0	111.0					15																	75105286		2197	4296	6493	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.91C>T	15.37:g.75105286C>T	ENSP00000310431:p.Arg31Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.R31C	ENST00000309664.5	37	c.91	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137107	0.37728	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.63913	-0.07;-0.07	5.02	3.11	0.35812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.208226	0.32273	N	0.006323	T	0.77698	0.4169	M	0.86420	2.815	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76170	-0.3057	10	0.87932	D	0	.	6.2059	0.20602	0.1958:0.7075:0.0:0.0967	.	31;31	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	C	31	ENSP00000310431:R31C;ENSP00000369031:R31C	ENSP00000310431:R31C	R	+	1	0	LMAN1L	72892339	0.899000	0.30636	0.395000	0.26283	0.074000	0.17049	1.604000	0.36804	0.501000	0.28013	0.447000	0.29281	CGC	LMAN1L	-	superfamily_ConA-like_lec_gl_sf		0.617	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	C			75105286	+1	no_errors	ENST00000309664	ensembl	human	known	70_37	missense	SNP	0.776	T
LMO7	4008	genome.wustl.edu	37	13	76395533	76395533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:76395533C>T	ENST00000321797.8	+	12	2450	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q528*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q577*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.Q862*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q427*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q862*			Q8WWI1	LMO7_HUMAN	LIM domain 7	862					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACTGAAATTCAGCTTCCTTC	0.438																																																	0													114.0	108.0	110.0					13																	76395533		2203	4300	6503	SO:0001587	stop_gained	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1729C>T	13.37:g.76395533C>T	ENSP00000317802:p.Gln577*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.Q862*	ENST00000321797.8	37	c.2584		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.635822|15.635822	0.99840|0.99840	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038	.|.	.|.	.|.	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	1.138560|.	0.06101|.	N|.	0.665389|.	.|T	.|0.54255	.|0.1847	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62618	.|-0.6816	.|3	0.28530|.	T|.	0.3|.	2.4809|2.4809	10.737|10.737	0.46130|0.46130	0.1487:0.7086:0.1427:0.0|0.1487:0.7086:0.1427:0.0	.|.	.|.	.|.	.|.	X|L	528;862;862;476;577;427;577|485	.|.	ENSP00000317802:Q577X|.	Q|S	+|+	1|2	0|0	LMO7|LMO7	75293534|75293534	0.007000|0.007000	0.16637|0.16637	0.005000|0.005000	0.12908|0.12908	0.907000|0.907000	0.53573|0.53573	2.236000|2.236000	0.43052|0.43052	0.773000|0.773000	0.33404|0.33404	0.650000|0.650000	0.86243|0.86243	CAG|TCA	LMO7	-	NULL		0.438	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76395533	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	nonsense	SNP	0.016	T
TPM1	7168	genome.wustl.edu	37	15	63341214	63341214	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:63341214C>T	ENST00000403994.3	+	2	320				TPM1_ENST00000267996.7_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559556.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000560959.1_Intron|TPM1_ENST00000357980.4_Intron|RP11-244F12.3_ENST00000560903.1_RNA|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000288398.6_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTTTCAGTCGTGTCTGTGC	0.557																																																	0																																										SO:0001627	intron_variant	100128979			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.240+4863C>T	15.37:g.63341214C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	RNA	SNP	-	NULL	ENST00000403994.3	37	NULL	CCDS45273.1	15																																																																																			RP11-244F12.3	-	-		0.557	TPM1-002	KNOWN	basic|CCDS	protein_coding	LOC100128979	Clone_based_vega_gene	protein_coding	OTTHUMT00000417083.2	C	NM_001018004		63341214	-1	no_errors	ENST00000560903	ensembl	human	known	70_37	rna	SNP	0.000	T
ZSWIM8	23053	genome.wustl.edu	37	10	75560286	75560286	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:75560286G>A	ENST00000605216.1	+	23	5228				ZSWIM8_ENST00000398706.2_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										TGGCTCTTCAGAGGACCCTTC	0.547																																																	0																																										SO:0001627	intron_variant	100507331			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5011+56G>A	10.37:g.75560286G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	SNP	-	NULL	ENST00000605216.1	37	NULL		10																																																																																			RP11-574K11.16	-	-		0.547	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	LOC100507331	Clone_based_vega_gene	protein_coding	OTTHUMT00000468545.1	G	NM_001242487		75560286	-1	no_errors	ENST00000456638	ensembl	human	known	70_37	rna	SNP	0.000	A
CHD3	1107	genome.wustl.edu	37	17	7819061	7819061	+	IGR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:7819061G>A	ENST00000330494.7	+	0	7328				AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAGCCGCCGGAGCGCGCGCC	0.731																																																	0																																										SO:0001628	intergenic_variant	284023			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427		17.37:g.7819061G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	RNA	SNP	-	NULL	ENST00000330494.7	37	NULL	CCDS32554.1	17																																																																																			AC025335.1	-	-		0.731	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC284023	Clone_based_vega_gene	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7819061	-1	no_errors	ENST00000324348	ensembl	human	known	70_37	rna	SNP	0.004	A
RP11-467N20.5	0	genome.wustl.edu	37	15	23406997	23406997	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:23406997C>A	ENST00000558241.1	-	8	1929	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N																	endometrium(1)	1						gctcccgtatcttctcctcct	0.557																																																	0																																										SO:0001583	missense	440233																														ENST00000558241.1:c.1839G>T	15.37:g.23406997C>A	ENSP00000453436:p.Lys613Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.K613N	ENST00000558241.1	37	c.1839		15																																																																																			RP11-467N20.5	-	NULL		0.557	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	LOC440233	Clone_based_vega_gene	protein_coding	OTTHUMT00000415942.1	C			23406997	-1	no_errors	ENST00000558241	ensembl	human	novel	70_37	missense	SNP	0.040	A
ERI2	112479	genome.wustl.edu	37	16	20818300	20818300	+	5'Flank	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:20818300G>C	ENST00000357967.4	-	0	0				ERI2_ENST00000300005.3_5'Flank|AC004381.6_ENST00000348433.6_Missense_Mutation_p.E9Q|ERI2_ENST00000563117.1_5'Flank|AC004381.6_ENST00000564274.1_Missense_Mutation_p.E9Q|ERI2_ENST00000389345.5_5'Flank|AC004381.6_ENST00000261377.6_Missense_Mutation_p.E9Q|ERI2_ENST00000564349.1_Intron|ERI2_ENST00000568251.1_5'Flank|ERI2_ENST00000569729.1_5'Flank|AC004381.6_ENST00000567297.1_3'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2								exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GGAAGGGACCGAGAGACACCC	0.622											OREG0023666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	51.0	57.0					16																	20818300		2199	4295	6494	SO:0001631	upstream_gene_variant	81691			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557		16.37:g.20818300G>C	Exception_encountered	Somatic	743	WXS	Illumina HiSeq	Phase_IV	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom	p.E9Q	ENST00000357967.4	37	c.25	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454904	0.26161	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32272	1.46;1.87	3.98	0.873	0.19118	.	0.768631	0.12047	N	0.504491	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B;B	0.23937	0.094;0.057	B;B	0.23018	0.043;0.019	T	0.25676	-1.0125	10	0.28530	T	0.3	-1.7749	3.2394	0.06776	0.221:0.0:0.5715:0.2075	.	9;9	Q96IC2-2;Q96IC2	.;REXON_HUMAN	Q	9	ENSP00000261378:E9Q;ENSP00000261377:E9Q	ENSP00000261377:E9Q	E	+	1	0	AC004381.6	20725801	0.000000	0.05858	0.004000	0.12327	0.067000	0.16453	0.227000	0.17795	0.218000	0.20820	-0.136000	0.14681	GAG	AC004381.6	-	NULL		0.622	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC81691	Clone_based_vega_gene	protein_coding		G	NM_080663		20818300	+1	no_errors	ENST00000261377	ensembl	human	known	70_37	missense	SNP	0.004	C
LONRF2	164832	genome.wustl.edu	37	2	100925654	100925654	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:100925654G>A	ENST00000393437.3	-	2	1352	c.713C>T	c.(712-714)gCg>gTg	p.A238V	LONRF2_ENST00000409647.1_5'UTR	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	238							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATATAACTCCGCCCGCAGCAG	0.368																																																	0													65.0	67.0	67.0					2																	100925654		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.713C>T	2.37:g.100925654G>A	ENSP00000377086:p.Ala238Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A238V	ENST00000393437.3	37	c.713	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234354	0.58886	.	.	ENSG00000170500	ENST00000393437	T	0.73897	-0.79	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.291163	0.25202	U	0.032377	D	0.83261	0.5216	M	0.76328	2.33	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	D	0.85652	0.1283	10	0.66056	D	0.02	.	15.8791	0.79189	0.0:0.0:1.0:0.0	.	238	Q1L5Z9	LONF2_HUMAN	V	238	ENSP00000377086:A238V	ENSP00000377086:A238V	A	-	2	0	LONRF2	100292086	1.000000	0.71417	0.804000	0.32291	0.084000	0.17831	5.639000	0.67868	2.258000	0.74832	0.655000	0.94253	GCG	LONRF2	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.368	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	G	NM_198461		100925654	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	1.000	A
LPA	4018	genome.wustl.edu	37	6	161071489	161071489	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:161071489A>C	ENST00000316300.5	-	2	134	c.90T>G	c.(88-90)caT>caG	p.H30Q	LPA_ENST00000447678.1_Missense_Mutation_p.H30Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2538	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCCATCACCATGGTAGCAAT	0.438																																																	0													197.0	200.0	199.0					6																	161071489		2200	4300	6500	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.90T>G	6.37:g.161071489A>C	ENSP00000321334:p.His30Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H30Q	ENST00000316300.5	37	c.90	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	a	1.505	-0.551087	0.03996	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64991	-0.13;-0.13	2.72	-3.41	0.04839	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.18341	0.0440	N	0.21617	0.685	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15636	-1.0430	9	0.29301	T	0.29	.	5.3109	0.15829	0.3997:0.2733:0.327:0.0	.	2538	P08519	APOA_HUMAN	Q	30	ENSP00000321334:H30Q;ENSP00000395608:H30Q	ENSP00000321334:H30Q	H	-	3	2	LPA	160991479	0.000000	0.05858	0.040000	0.18447	0.173000	0.22820	-4.408000	0.00238	-1.000000	0.03438	-0.496000	0.04628	CAT	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	A	NM_005577		161071489	-1	no_errors	ENST00000316300	ensembl	human	known	70_37	missense	SNP	0.039	C
LPHN3	23284	genome.wustl.edu	37	4	62936592	62936592	+	Nonsense_Mutation	SNP	C	C	G	rs371975916		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:62936592C>G	ENST00000514591.1	+	25	4705	c.4376C>G	c.(4375-4377)tCa>tGa	p.S1459*	LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.S1570*|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.S1459*|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.S1561*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.S1502*|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.S1518*|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000508693.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.S1493*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1437					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGGAAGTTCAAAAGGACCG	0.458																																																	0													57.0	57.0	57.0					4																	62936592		692	1591	2283	SO:0001587	stop_gained	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.4376C>G	4.37:g.62936592C>G	ENSP00000422533:p.Ser1459*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S1518*	ENST00000514591.1	37	c.4553	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.607530|7.607530	0.98387|0.98387	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|.	.|.	.|.	5.5|5.5	3.75|3.75	0.43078|0.43078	.|.	.|0.647845	.|0.15395	.|N	.|0.264632	T|.	0.58935|.	0.2157|.	.|.	.|.	.|.	0.48901|0.48901	D|D	0.999723|0.999723	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55560|.	-0.8122|.	4|.	.|0.49607	.|T	.|0.09	.|.	5.3324|5.3324	0.15940|0.15940	0.1443:0.6393:0.0:0.2164|0.1443:0.6393:0.0:0.2164	.|.	.|.	.|.	.|.	L|X	907|1459;1459;1437;1518;1502;1570;1561;1493	.|.	.|ENSP00000295349:S1437X	F|S	+|+	3|2	2|0	LPHN3|LPHN3	62619187|62619187	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.979000|0.979000	0.70002|0.70002	1.376000|1.376000	0.34306|0.34306	0.672000|0.672000	0.31204|0.31204	0.591000|0.591000	0.81541|0.81541	TTC|TCA	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62936592	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	nonsense	SNP	0.000	G
LPL	4023	genome.wustl.edu	37	8	19818550	19818550	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:19818550C>T	ENST00000311322.8	+	8	1748	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	426	Heparin-binding. {ECO:0000250}.|PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GTCCCGGCTTCGCCATTCAGA	0.423																																																	0													77.0	76.0	76.0					8																	19818550		2203	4300	6503	SO:0001819	synonymous_variant	4023				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.1278C>T	8.37:g.19818550C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.F426	ENST00000311322.8	37	c.1278	CCDS6012.1	8																																																																																			LPL	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipo_Lipase,tigrfam_Lipo_Lipase		0.423	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	C			19818550	+1	no_errors	ENST00000311322	ensembl	human	known	70_37	silent	SNP	0.000	T
LRIG3	121227	genome.wustl.edu	37	12	59266440	59266440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:59266440G>A	ENST00000320743.3	-	19	3560	c.3274C>T	c.(3274-3276)Cag>Tag	p.Q1092*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.Q1032*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1092					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTTCTTCCTGAAAATCTGTC	0.403			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													80.0	87.0	85.0					12																	59266440		2203	4300	6503	SO:0001587	stop_gained	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3274C>T	12.37:g.59266440G>A	ENSP00000326759:p.Gln1092*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXL7|Q8NC72	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q1092*	ENST00000320743.3	37	c.3274	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.752594	0.98471	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.68	5.68	0.88126	.	0.232101	0.22322	N	0.061599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5897	0.50939	0.0:0.1249:0.7304:0.1448	.	.	.	.	X	1032;1092	.	.	Q	-	1	0	LRIG3	57552707	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.063000	0.49978	2.676000	0.91093	0.563000	0.77884	CAG	LRIG3	-	NULL		0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	G	NM_153377		59266440	-1	no_errors	ENST00000320743	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LRPPRC	10128	genome.wustl.edu	37	2	44175581	44175581	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44175581C>T	ENST00000260665.7	-	17	1869	c.1812G>A	c.(1810-1812)ttG>ttA	p.L604L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	604					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTATTGTCTCAAATGCTCCT	0.398																																																	0													128.0	113.0	118.0					2																	44175581		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1812G>A	2.37:g.44175581C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.L604	ENST00000260665.7	37	c.1812	CCDS33189.1	2																																																																																			LRPPRC	-	NULL		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175581	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	silent	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44175607	44175607	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44175607C>G	ENST00000260665.7	-	17	1843	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	596					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCTGTACCTCTGAGTCACTC	0.413																																																	0													114.0	103.0	107.0					2																	44175607		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1786G>C	2.37:g.44175607C>G	ENSP00000260665:p.Glu596Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E596Q	ENST00000260665.7	37	c.1786	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783627	0.70222	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.57107	0.42	5.72	5.72	0.89469	.	0.047932	0.85682	D	0.000000	T	0.73853	0.3640	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.909;1.0	P;D	0.83275	0.58;0.996	T	0.67185	-0.5734	10	0.15952	T	0.53	-6.3237	20.2441	0.98394	0.0:1.0:0.0:0.0	.	496;596	F5H4J6;P42704	.;LPPRC_HUMAN	Q	496;596	ENSP00000260665:E596Q	ENSP00000260665:E596Q	E	-	1	0	LRPPRC	44029111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.865000	0.98341	0.655000	0.94253	GAG	LRPPRC	-	NULL		0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44175607	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	1.000	G
LRPPRC	10128	genome.wustl.edu	37	2	44177733	44177733	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44177733C>G	ENST00000260665.7	-	15	1713	c.1656G>C	c.(1654-1656)atG>atC	p.M552I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	552					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATTTATATTCATAGACCTGC	0.318																																																	0													53.0	57.0	55.0					2																	44177733		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1656G>C	2.37:g.44177733C>G	ENSP00000260665:p.Met552Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.M552I	ENST00000260665.7	37	c.1656	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008391	0.35415	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.55588	0.51	5.45	4.49	0.54785	.	0.470491	0.26058	N	0.026586	T	0.50905	0.1643	M	0.72479	2.2	0.80722	D	1	B;B	0.23806	0.09;0.091	B;B	0.22880	0.042;0.014	T	0.54529	-0.8280	10	0.54805	T	0.06	-7.7134	10.9408	0.47273	0.4176:0.5824:0.0:0.0	.	452;552	F5H4J6;P42704	.;LPPRC_HUMAN	I	452;552	ENSP00000260665:M552I	ENSP00000260665:M552I	M	-	3	0	LRPPRC	44031237	0.969000	0.33509	0.407000	0.26434	0.992000	0.81027	2.405000	0.44548	2.549000	0.85964	0.549000	0.68633	ATG	LRPPRC	-	NULL		0.318	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44177733	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.973	G
LRP2	4036	genome.wustl.edu	37	2	170063588	170063588	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:170063588C>A	ENST00000263816.3	-	39	6927	c.6642G>T	c.(6640-6642)aaG>aaT	p.K2214N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2214					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACGCTCAATCTTTGGTCTCT	0.502																																																	0													181.0	164.0	170.0					2																	170063588		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6642G>T	2.37:g.170063588C>A	ENSP00000263816:p.Lys2214Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K2214N	ENST00000263816.3	37	c.6642	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304250	0.60305	.	.	ENSG00000081479	ENST00000263816	D	0.94862	-3.54	5.98	5.1	0.69264	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95971	0.8970	10	0.32370	T	0.25	.	7.7833	0.29077	0.0:0.7269:0.1378:0.1354	.	2214	P98164	LRP2_HUMAN	N	2214	ENSP00000263816:K2214N	ENSP00000263816:K2214N	K	-	3	2	LRP2	169771834	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.980000	0.40618	1.518000	0.48934	-0.181000	0.13052	AAG	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170063588	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC37A11P	342666	genome.wustl.edu	37	17	37187378	37187378	+	RNA	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:37187378C>A	ENST00000425901.2	+	0	1220					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ATGTTTTTTTCCTCCAACCAT	0.488																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187378C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37187378	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.000	A
LRRC37A11P	342666	genome.wustl.edu	37	17	37187556	37187556	+	RNA	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:37187556C>G	ENST00000425901.2	+	0	1398					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACTCCAGAATCCATGACAGAG	0.498																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187556C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.498	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37187556	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.001	G
LRRC37A11P	342666	genome.wustl.edu	37	17	37187642	37187642	+	RNA	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:37187642C>G	ENST00000425901.2	+	0	1484					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		TCCAGCATATCAAGGGGTAAC	0.502																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187642C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.502	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37187642	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.000	G
LRRC43	254050	genome.wustl.edu	37	12	122677437	122677437	+	Missense_Mutation	SNP	C	C	G	rs199748854		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:122677437C>G	ENST00000339777.4	+	7	1263	c.1235C>G	c.(1234-1236)tCg>tGg	p.S412W	LRRC43_ENST00000425921.1_Missense_Mutation_p.S227W	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	412	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCAGGAGAGTCGGAGCTGTCT	0.567																																																	0													92.0	98.0	96.0					12																	122677437		2102	4245	6347	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1235C>G	12.37:g.122677437C>G	ENSP00000344233:p.Ser412Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVT9	Missense_Mutation	SNP	NULL	p.S412W	ENST00000339777.4	37	c.1235	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555592	0.45487	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.57907	0.37;0.81	4.52	-0.0437	0.13858	.	4.901210	0.00559	N	0.000279	T	0.54127	0.1839	L	0.40543	1.245	0.09310	N	1	D	0.62365	0.991	P	0.54889	0.763	T	0.37150	-0.9718	10	0.72032	D	0.01	0.1765	1.9584	0.03381	0.166:0.4938:0.181:0.1592	.	412	Q8N309	LRC43_HUMAN	W	412;283;227	ENSP00000344233:S412W;ENSP00000416628:S227W	ENSP00000289014:S283W	S	+	2	0	LRRC43	121243390	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.120000	0.15647	-0.008000	0.14320	0.655000	0.94253	TCG	LRRC43	-	NULL		0.567	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	C	NM_152759		122677437	+1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.000	G
LRRC71	149499	genome.wustl.edu	37	1	156897387	156897387	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:156897387C>G	ENST00000337428.7	+	7	916	c.762C>G	c.(760-762)ctC>ctG	p.L254L	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	254										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCGGACCCTCGTCTCGCTCA	0.657											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15.0	18.0	17.0					1																	156897387		2070	4197	6267	SO:0001819	synonymous_variant	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.762C>G	1.37:g.156897387C>G		Somatic	1782	WXS	Illumina HiSeq	Phase_IV	Q96M24	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L254	ENST00000337428.7	37	c.762	CCDS44249.1	1																																																																																			LRRC71	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.657	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	C	NM_144702		156897387	+1	no_errors	ENST00000337428	ensembl	human	known	70_37	silent	SNP	0.688	G
LRSAM1	90678	genome.wustl.edu	37	9	130249962	130249962	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:130249962G>A	ENST00000323301.4	+	17	1871	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E423K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E423K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E423K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	423					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CAGCATGGCCGAAATGGATGA	0.522																																																	0													75.0	66.0	69.0					9																	130249962		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1267G>A	9.37:g.130249962G>A	ENSP00000322937:p.Glu423Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E423K	ENST00000323301.4	37	c.1267	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413343	0.42817	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76186	1.35;-1.0;1.35;1.35	5.34	4.39	0.52855	.	0.273141	0.41396	D	0.000894	T	0.65291	0.2677	L	0.54323	1.7	0.47341	D	0.999399	B;P	0.36837	0.097;0.571	B;B	0.23716	0.011;0.048	T	0.68017	-0.5520	10	0.35671	T	0.21	-7.651	15.1886	0.73025	0.0:0.1547:0.8453:0.0	.	423;423	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	423	ENSP00000300417:E423K;ENSP00000362421:E423K;ENSP00000322937:E423K;ENSP00000362419:E423K	ENSP00000300417:E423K	E	+	1	0	LRSAM1	129289783	0.995000	0.38212	0.983000	0.44433	0.921000	0.55340	2.734000	0.47368	2.501000	0.84356	0.655000	0.94253	GAA	LRSAM1	-	NULL		0.522	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130249962	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.910	A
LTBP3	4054	genome.wustl.edu	37	11	65307845	65307845	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:65307845C>G	ENST00000301873.5	-	23	3383	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	LTBP3_ENST00000536982.1_Missense_Mutation_p.E665Q|LTBP3_ENST00000532932.1_Missense_Mutation_p.E469Q|LTBP3_ENST00000530785.1_Missense_Mutation_p.E42Q|LTBP3_ENST00000322147.4_Missense_Mutation_p.E1039Q|LTBP3_ENST00000529189.1_Missense_Mutation_p.E42Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1039	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCCAGGCACTCGTCCACGTCT	0.716											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	15.0	15.0					11																	65307845		2195	4289	6484	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3115G>C	11.37:g.65307845C>G	ENSP00000301873:p.Glu1039Gln	Somatic	1083	WXS	Illumina HiSeq	Phase_IV	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1039Q	ENST00000301873.5	37	c.3115	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502298|4.502298	0.85176|0.85176	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866|ENST00000526927	D;D;D;D;D;D;D;D|.	0.98862|.	-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19|.	4.32|4.32	4.32|4.32	0.51571|0.51571	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85626|0.85626	0.5740|0.5740	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.96;1.0;0.998;0.999;1.0;0.999|.	D|D	0.89376|0.89376	0.3678|0.3678	10|5	0.72032|.	D|.	0.01|.	.|.	12.3128|12.3128	0.54938|0.54938	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	950;665;922;1039;1039;469;665|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8|.	.;.;.;LTBP3_HUMAN;.;.;.|.	Q|P	42;1039;1039;42;42;469;665;42;950|689	ENSP00000326647:E1039Q;ENSP00000301873:E1039Q;ENSP00000434315:E42Q;ENSP00000434406:E42Q;ENSP00000435530:E469Q;ENSP00000441912:E665Q;ENSP00000436341:E42Q;ENSP00000435276:E950Q|.	ENSP00000301873:E1039Q|.	E|R	-|-	1|2	0|0	LTBP3|LTBP3	65064421|65064421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	5.204000|5.204000	0.65180|0.65180	1.957000|1.957000	0.56846|0.56846	0.462000|0.462000	0.41574|0.41574	GAG|CGA	LTBP3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.716	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	C	NM_021070		65307845	-1	no_errors	ENST00000301873	ensembl	human	known	70_37	missense	SNP	1.000	G
MADCAM1	8174	genome.wustl.edu	37	19	501714	501714	+	Missense_Mutation	SNP	C	C	A	rs78071082	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																																	0													27.0	42.0	37.0					19																	501714		2202	4299	6501	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.P238Q	ENST00000215637.3	37	c.713	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG	MADCAM1	-	NULL		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	C	NM_130760		501714	+1	no_errors	ENST00000215637	ensembl	human	known	70_37	missense	SNP	0.000	A
MAGEB10	139422	genome.wustl.edu	37	X	27839436	27839436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:27839436C>T	ENST00000356790.2	+	3	258	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	5										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GCCTCGAGGTCAGAAGAGTAA	0.522																																																	0													48.0	48.0	48.0					X																	27839436		2202	4300	6502	SO:0001587	stop_gained	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.13C>T	X.37:g.27839436C>T	ENSP00000368304:p.Gln5*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q5*	ENST00000356790.2	37	c.13	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651122	0.67472	.	.	ENSG00000177689	ENST00000356790	.	.	.	2.51	0.572	0.17357	.	1.078040	0.07473	U	0.902502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.4329	0.21807	0.5184:0.4816:0.0:0.0	.	.	.	.	X	5	.	ENSP00000368304:Q5X	Q	+	1	0	MAGEB10	27749357	0.901000	0.30685	0.030000	0.17652	0.321000	0.28281	0.173000	0.16724	0.021000	0.15133	0.415000	0.27848	CAG	MAGEB10	-	pfam_Melanoma_ass_antigen_N		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	C	NM_182506		27839436	+1	no_errors	ENST00000356790	ensembl	human	known	70_37	nonsense	SNP	0.029	T
MAGEA3	4102	genome.wustl.edu	37	X	151935275	151935275	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:151935275G>A	ENST00000393902.3	-	3	1459	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H298Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAAATGTGAGGTCCTCCA	0.552																																																	0													158.0	151.0	153.0					X																	151935275		2202	4295	6497	SO:0001583	missense	4102				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.892C>T	X.37:g.151935275G>A	ENSP00000377480:p.His298Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHI6	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.H298Y	ENST00000393902.3	37	c.892	CCDS14715.1	X	.	.	.	.	.	.	.	.	.	.	g	5.706	0.314767	0.10789	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.01599	4.74;4.74	1.42	0.488	0.16848	.	0.239718	0.43110	D	0.000619	T	0.01940	0.0061	L	0.50333	1.59	0.09310	N	1	B	0.20780	0.048	B	0.24006	0.05	T	0.42498	-0.9448	10	0.72032	D	0.01	.	3.3197	0.07045	0.2997:0.0:0.7003:0.0	.	298	P43357	MAGA3_HUMAN	Y	298	ENSP00000359301:H298Y;ENSP00000377480:H298Y	ENSP00000359301:H298Y	H	-	1	0	MAGEA3	151685931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.275000	0.18698	0.095000	0.17434	0.358000	0.22013	CAC	MAGEA3	-	pfscan_MAGE		0.552	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	HGNC	protein_coding	OTTHUMT00000058744.1	G	NM_005362		151935275	-1	no_errors	ENST00000370278	ensembl	human	known	70_37	missense	SNP	0.000	A
MAGI2	9863	genome.wustl.edu	37	7	78150813	78150813	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:78150813C>G	ENST00000354212.4	-	4	941	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.E230Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.E62Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.E67Q|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.E230Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	230	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCAGGAGGCTCTATACTGGCT	0.428																																																	0													198.0	197.0	197.0					7																	78150813		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.688G>C	7.37:g.78150813C>G	ENSP00000346151:p.Glu230Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E230Q	ENST00000354212.4	37	c.688	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122264	0.77436	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.42513	0.97;0.97;0.97;3.75;0.97	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);	0.000000	0.33005	U	0.005390	T	0.54565	0.1866	L	0.41824	1.3	0.80722	D	1	P;D;D;P	0.64830	0.935;0.994;0.978;0.682	P;P;D;B	0.63488	0.879;0.891;0.915;0.398	T	0.41662	-0.9496	10	0.29301	T	0.29	.	18.7612	0.91851	0.0:1.0:0.0:0.0	.	67;62;230;230	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	Q	230;230;230;230;62;67	ENSP00000405766:E230Q;ENSP00000346151:E230Q;ENSP00000428389:E230Q;ENSP00000441584:E62Q;ENSP00000441603:E67Q	ENSP00000346151:E230Q	E	-	1	0	MAGI2	77988749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	GAG	MAGI2	-	smart_Guanylate_kin/L-typ_Ca_channel		0.428	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	C	NM_012301		78150813	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP1A	4130	genome.wustl.edu	37	15	43817874	43817874	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43817874G>A	ENST00000300231.5	+	4	4653	c.4203G>A	c.(4201-4203)gtG>gtA	p.V1401V	MAP1A_ENST00000399453.1_Silent_p.V1401V|MAP1A_ENST00000382031.1_Silent_p.V1639V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1401					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.V1401V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGAGGCTGTGAAACAGCAGG	0.463																																																	1	Substitution - coding silent(1)	lung(1)											83.0	81.0	82.0					15																	43817874		1897	4121	6018	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4203G>A	15.37:g.43817874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.V1401	ENST00000300231.5	37	c.4203	CCDS42031.1	15																																																																																			MAP1A	-	NULL		0.463	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43817874	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	silent	SNP	0.000	A
MAP2	4133	genome.wustl.edu	37	2	210558119	210558119	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:210558119G>C	ENST00000360351.4	+	7	1731	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E405Q|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	409					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)	GAAAGTTTTAGAGGAAGAAAA	0.448																																					Pancreas(27;423 979 28787 29963)												0													80.0	81.0	81.0					2																	210558119		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1225G>C	2.37:g.210558119G>C	ENSP00000353508:p.Glu409Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E409Q	ENST00000360351.4	37	c.1225	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	2.292	-0.362226	0.05103	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.19105	2.17;2.17;2.17	5.69	3.91	0.45181	MAP2/Tau projection (1);	0.921457	0.09290	N	0.822391	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.30937	0.256;0.301	B;B	0.35727	0.132;0.209	T	0.33574	-0.9863	10	0.66056	D	0.02	0.0168	7.2562	0.26177	0.1399:0.0:0.7233:0.1368	.	405;409	P11137-3;P11137	.;MAP2_HUMAN	Q	409;491;405	ENSP00000353508:E409Q;ENSP00000409969:E491Q;ENSP00000392164:E405Q	ENSP00000353508:E409Q	E	+	1	0	MAP2	210266364	0.148000	0.22702	0.001000	0.08648	0.006000	0.05464	3.056000	0.49923	0.772000	0.33382	-0.145000	0.13849	GAG	MAP2	-	pfam_MAP2_projctn		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210558119	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	0.001	C
MAP4K1	11184	genome.wustl.edu	37	19	39096370	39096370	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:39096370G>A	ENST00000591517.1	-	18	1229	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	MAP4K1_ENST00000589002.1_5'Flank|MAP4K1_ENST00000396857.2_Splice_Site_p.P401S|MAP4K1_ENST00000589130.1_Splice_Site_p.P397S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Splice_Site_p.P63S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	401					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGAACTTGGGCTTTGGAGAC	0.602																																																	0													16.0	17.0	17.0					19																	39096370		1950	4096	6046	SO:0001630	splice_region_variant	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1201-1C>T	19.37:g.39096370G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P401S	ENST00000591517.1	37	c.1201	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	9.856	1.195083	0.22037	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.24151	1.87;2.6	5.35	4.11	0.48088	.	0.209202	0.40469	N	0.001100	T	0.14743	0.0356	N	0.24115	0.695	0.35866	D	0.827865	P;B;B	0.34864	0.473;0.035;0.02	B;B;B	0.26416	0.069;0.019;0.008	T	0.19128	-1.0315	10	0.32370	T	0.25	.	11.8961	0.52658	0.0989:0.0:0.9011:0.0	.	63;401;401	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	401;401;63	ENSP00000380066:P401S;ENSP00000396383:P63S	ENSP00000221409:P401S	P	-	1	0	MAP4K1	43788210	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.279000	0.51670	2.506000	0.84524	0.462000	0.41574	CCC	MAP4K1	-	NULL		0.602	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	G	NM_001042600	Missense_Mutation	39096370	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK7	5598	genome.wustl.edu	37	17	19284341	19284341	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:19284341C>G	ENST00000308406.5	+	4	1205	c.819C>G	c.(817-819)ctC>ctG	p.L273L	MAPK7_ENST00000395604.3_Silent_p.L273L|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.L134L|B9D1_ENST00000477478.2_5'Flank|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Silent_p.L273L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	273	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCTACAGCTCATCATGATGG	0.592																																																	0													39.0	40.0	40.0					17																	19284341		2203	4300	6503	SO:0001819	synonymous_variant	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.819C>G	17.37:g.19284341C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L273	ENST00000308406.5	37	c.819	CCDS11206.1	17																																																																																			MAPK7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19284341	+1	no_errors	ENST00000308406	ensembl	human	known	70_37	silent	SNP	0.999	G
MARS2	92935	genome.wustl.edu	37	2	198571760	198571760	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:198571760C>T	ENST00000282276.6	+	1	1674	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	544					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GTCTCTGCCTCAGAGAGGAGT	0.532																																																	0													110.0	110.0	110.0					2																	198571760		2203	4300	6503	SO:0001583	missense	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1631C>T	2.37:g.198571760C>T	ENSP00000282276:p.Ser544Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.S544L	ENST00000282276.6	37	c.1631	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223896	0.09863	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	4.83	4.83	0.62350	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.347802	0.27876	N	0.017490	T	0.30198	0.0757	N	0.24115	0.695	0.20764	N	0.999855	B	0.17465	0.022	B	0.22880	0.042	T	0.20706	-1.0267	10	0.54805	T	0.06	-2.2678	11.1947	0.48707	0.0:0.8144:0.1855:0.0	.	544	Q96GW9	SYMM_HUMAN	L	544;471	ENSP00000282276:S544L	ENSP00000282276:S544L	S	+	2	0	MARS2	198280005	0.393000	0.25237	1.000000	0.80357	0.182000	0.23217	1.081000	0.30791	2.505000	0.84491	0.650000	0.86243	TCA	MARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth		0.532	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	C	NM_138395		198571760	+1	no_errors	ENST00000282276	ensembl	human	known	70_37	missense	SNP	0.646	T
MBL1P	8512	genome.wustl.edu	37	10	81664752	81664752	+	IGR	SNP	A	A	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:81664752A>G								NUTM2E (54120 upstream) : MBL1P (15181 downstream)																							GCGACAGTGAATTTCCGTTTC	0.612																																																	0																																										SO:0001628	intergenic_variant	8512																															10.37:g.81664752A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		10																																																																																			MBL1P	-	-	0	0.612					MBL1P	HGNC			A			81664752	+1	no_errors	ENST00000453174	ensembl	human	known	70_37	rna	SNP	0.163	G
MCC	4163	genome.wustl.edu	37	5	112389569	112389569	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112389569C>T	ENST00000302475.4	-	13	2294	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	MCC_ENST00000408903.3_Silent_p.K767K|MCC_ENST00000515367.2_Silent_p.K514K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	577					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCCTGTCATTCTTGAGCTGCT	0.537																																																	0													116.0	105.0	109.0					5																	112389569		2202	4300	6502	SO:0001819	synonymous_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1731G>A	5.37:g.112389569C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT05|Q6ZR04	Silent	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.K577	ENST00000302475.4	37	c.1731	CCDS4111.1	5																																																																																			MCC	-	NULL		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112389569	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	silent	SNP	1.000	T
MCC	4163	genome.wustl.edu	37	5	112437442	112437442	+	Silent	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112437442C>A	ENST00000302475.4	-	6	1385	c.822G>T	c.(820-822)cgG>cgT	p.R274R	MCC_ENST00000408903.3_Silent_p.R464R|MCC_ENST00000515367.2_Silent_p.R211R|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	274					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCACCCTCCTCCGGAGCCGGT	0.577																																																	0													98.0	94.0	95.0					5																	112437442		2202	4300	6502	SO:0001819	synonymous_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.822G>T	5.37:g.112437442C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT05|Q6ZR04	Silent	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R274	ENST00000302475.4	37	c.822	CCDS4111.1	5																																																																																			MCC	-	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm		0.577	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112437442	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	silent	SNP	0.999	A
MCM6	4175	genome.wustl.edu	37	2	136626216	136626216	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:136626216C>T	ENST00000264156.2	-	4	640	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTATTTGTATCCAGTAAGAAT	0.373																																					Ovarian(196;141 2104 8848 24991 25939)												0													109.0	113.0	112.0					2																	136626216		2203	4300	6503	SO:0001583	missense	4175				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.580G>A	2.37:g.136626216C>T	ENSP00000264156:p.Asp194Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase	p.D194N	ENST00000264156.2	37	c.580	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108718	0.56291	.	.	ENSG00000076003	ENST00000264156	T	0.03951	3.75	5.82	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.084311	0.85682	D	0.000000	T	0.06280	0.0162	L	0.39898	1.24	0.80722	D	1	B	0.28820	0.224	B	0.34301	0.179	T	0.35400	-0.9790	10	0.12430	T	0.62	-24.4536	15.2302	0.73381	0.0:0.9327:0.0:0.0673	.	194	Q14566	MCM6_HUMAN	N	194	ENSP00000264156:D194N	ENSP00000264156:D194N	D	-	1	0	MCM6	136342686	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	5.904000	0.69886	1.483000	0.48342	-0.232000	0.12228	GAT	MCM6	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase		0.373	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	C	NM_005915		136626216	-1	no_errors	ENST00000264156	ensembl	human	known	70_37	missense	SNP	1.000	T
MCOLN1	57192	genome.wustl.edu	37	19	7595300	7595300	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:7595300C>T	ENST00000264079.6	+	12	1613	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	496					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTCCCAGCTCTACCTTTACT	0.592																																																	0													257.0	242.0	247.0					19																	7595300		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1488C>T	19.37:g.7595300C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.L496	ENST00000264079.6	37	c.1488	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.592	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595300	+1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	1.000	T
MED16	10025	genome.wustl.edu	37	19	872088	872088	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:872088G>A	ENST00000589119.1	-	11	1935	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	MED16_ENST00000269814.4_Intron|MED16_ENST00000325464.1_Silent_p.L646L|MED16_ENST00000395808.3_Silent_p.L646L|MED16_ENST00000312090.6_Silent_p.L646L|MED16_ENST00000606828.1_5'Flank			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	646					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCCCGCAGAAAGCTGTGG	0.657																																																	0													35.0	33.0	34.0					19																	872088		2169	4278	6447	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1936C>T	19.37:g.872088G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L646	ENST00000589119.1	37	c.1936	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16		0.657	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		872088	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	1.000	A
MCOLN1	57192	genome.wustl.edu	37	19	7595360	7595360	+	Silent	SNP	C	C	G	rs530169769		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:7595360C>G	ENST00000264079.6	+	12	1673	c.1548C>G	c.(1546-1548)ctC>ctG	p.L516L		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	516					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCGCGCTCATCACCGGCG	0.617																																																	0													193.0	182.0	186.0					19																	7595360		2203	4300	6503	SO:0001819	synonymous_variant	57192			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1548C>G	19.37:g.7595360C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.L516	ENST00000264079.6	37	c.1548	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel		0.617	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	C	NM_020533		7595360	+1	no_errors	ENST00000264079	ensembl	human	known	70_37	silent	SNP	1.000	G
MFSD2B	388931	genome.wustl.edu	37	2	24247121	24247121	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:24247121C>T	ENST00000406420.3	+	13	1486	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	MFSD2B_ENST00000338315.4_Silent_p.S490S	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	490					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GGGACGCCTCCAGCCGGCTGA	0.637																																																	0													29.0	33.0	32.0					2																	24247121		2048	4179	6227	SO:0001819	synonymous_variant	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1470C>T	2.37:g.24247121C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.S490	ENST00000406420.3	37	c.1470	CCDS46228.1	2																																																																																			MFSD2B	-	NULL		0.637	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	C	NM_001080473		24247121	+1	no_errors	ENST00000338315	ensembl	human	known	70_37	silent	SNP	0.070	T
MINOS1	440574	genome.wustl.edu	37	1	19923492	19923492	+	5'UTR	SNP	G	G	C	rs539710076		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:19923492G>C	ENST00000322753.6	+	0	9				RP5-1056L3.1_ENST00000416470.1_RNA|MINOS1-NBL1_ENST00000602662.1_5'UTR|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TCAGGGGTCGGAGCGCGGGGG	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	440574			AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.-48G>C	1.37:g.19923492G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96G68	RNA	SNP	-	NULL	ENST00000322753.6	37	NULL	CCDS30620.1	1																																																																																			MINOS1	-	-		0.652	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINOS1	HGNC	protein_coding	OTTHUMT00000007697.2	G	NM_001032363		19923492	+1	no_errors	ENST00000462646	ensembl	human	known	70_37	rna	SNP	0.023	C
MIER1	57708	genome.wustl.edu	37	1	67425385	67425385	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:67425385G>A	ENST00000355356.3	+	6	648	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIER1_ENST00000371016.1_Missense_Mutation_p.E184K|MIER1_ENST00000401041.1_Missense_Mutation_p.E220K|MIER1_ENST00000371014.1_Missense_Mutation_p.E220K|MIER1_ENST00000371018.3_Missense_Mutation_p.E184K|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000357692.2_Missense_Mutation_p.E184K|MIER1_ENST00000401042.3_Missense_Mutation_p.E167K|MIER1_ENST00000355977.6_Missense_Mutation_p.E104K	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	167	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AGAAGAATCTGAAGAAGATGA	0.269																																																	0													62.0	65.0	64.0					1																	67425385		1786	4018	5804	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.499G>A	1.37:g.67425385G>A	ENSP00000347514:p.Glu167Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E220K	ENST00000355356.3	37	c.658	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.170638	0.94807	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.37752	1.6;1.18;1.58;1.56;1.6;1.58;1.61;1.59	5.38	5.38	0.77491	.	0.308225	0.34986	N	0.003533	T	0.38026	0.1025	M	0.64404	1.975	0.58432	D	0.999998	B;B;P;P;P;P;P;P;P	0.52316	0.243;0.172;0.782;0.884;0.816;0.919;0.952;0.67;0.456	B;B;B;B;B;B;P;B;B	0.49085	0.119;0.023;0.324;0.4;0.225;0.395;0.6;0.277;0.191	T	0.08911	-1.0699	10	0.38643	T	0.18	-40.3963	19.5626	0.95378	0.0:0.0:1.0:0.0	.	184;184;167;167;104;191;184;220;220	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	188;184;104;184;220;184;220;167;167	ENSP00000360057:E184K;ENSP00000348253:E104K;ENSP00000350321:E184K;ENSP00000383820:E220K;ENSP00000360055:E184K;ENSP00000360053:E220K;ENSP00000383821:E167K;ENSP00000347514:E167K	ENSP00000347514:E167K	E	+	1	0	MIER1	67197973	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.575000	0.90766	2.702000	0.92279	0.551000	0.68910	GAA	MIER1	-	NULL		0.269	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67425385	+1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31357253	31357253	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:31357253G>A	ENST00000256552.6	-	7	938				TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000542188.1_Intron|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGTGGGAAGTGACAACTGAGC	0.542																																																	0													226.0	203.0	210.0					15																	31357253		1567	3582	5149	SO:0001627	intron_variant	406993			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.790+1025C>T	15.37:g.31357253G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000256552.6	37	NULL	CCDS58346.1	15																																																																																			MIR211	-	-		0.542	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	MIR211	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31357253	-1	no_errors	ENST00000384969	ensembl	human	known	70_37	rna	SNP	1.000	A
CUL2	8453	genome.wustl.edu	37	10	35368540	35368540	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:35368540G>A	ENST00000374748.1	-	3	292				CUL2_ENST00000374742.1_Intron|CUL2_ENST00000374751.3_Intron|CUL2_ENST00000602371.1_Intron|CUL2_ENST00000374749.3_Intron|MIR3611_ENST00000584484.1_RNA			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						aaactagtaagaatttctttc	0.313																																																	0																																										SO:0001627	intron_variant	100500890			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.22-8273C>T	10.37:g.35368540G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	RNA	SNP	-	NULL	ENST00000374748.1	37	NULL	CCDS7179.1	10																																																																																			MIR3611	-	-		0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3611	HGNC	protein_coding	OTTHUMT00000047538.1	G	NM_003591		35368540	-1	no_errors	ENST00000584484	ensembl	human	known	70_37	rna	SNP	0.005	A
MIS18BP1	55320	genome.wustl.edu	37	14	45693269	45693269	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:45693269C>G	ENST00000310806.4	-	11	2979	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	841					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAGAGTTTCTTTGACGGAA	0.358																																																	0													116.0	110.0	112.0					14																	45693269		2203	4300	6503	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2521G>C	14.37:g.45693269C>G	ENSP00000309790:p.Glu841Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E841Q	ENST00000310806.4	37	c.2521	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311433	0.05422	.	.	ENSG00000129534	ENST00000310806	T	0.18502	2.21	5.72	0.0843	0.14436	.	0.909800	0.09498	N	0.794003	T	0.12390	0.0301	L	0.53249	1.67	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.35748	-0.9776	10	0.29301	T	0.29	-0.5769	0.7799	0.01039	0.1663:0.3755:0.1614:0.2968	.	841	Q6P0N0	M18BP_HUMAN	Q	841	ENSP00000309790:E841Q	ENSP00000309790:E841Q	E	-	1	0	MIS18BP1	44763019	0.000000	0.05858	0.033000	0.17914	0.072000	0.16883	0.347000	0.20014	0.335000	0.23614	0.655000	0.94253	GAA	MIS18BP1	-	NULL		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C			45693269	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	0.000	G
MKI67	4288	genome.wustl.edu	37	10	129906554	129906554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:129906554C>A	ENST00000368654.3	-	13	3925	c.3550G>T	c.(3550-3552)Gag>Tag	p.E1184*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E824*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1184	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E1184K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTTTCTCATCACCTCCT	0.463																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											255.0	242.0	246.0					10																	129906554		2203	4300	6503	SO:0001587	stop_gained	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3550G>T	10.37:g.129906554C>A	ENSP00000357643:p.Glu1184*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWH2	Nonsense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1184*	ENST00000368654.3	37	c.3550	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.261741	0.99118	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.15	2.15	0.27550	.	1.442700	0.04752	N	0.424659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	7.6841	0.28530	0.0:0.6108:0.3892:0.0	.	.	.	.	X	1184;824;1183	.	ENSP00000357642:E824X	E	-	1	0	MKI67	129796544	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.165000	0.09968	1.538000	0.49270	0.462000	0.41574	GAG	MKI67	-	pfam_K167R		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129906554	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	nonsense	SNP	0.001	A
KMT2C	58508	genome.wustl.edu	37	7	151921207	151921207	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:151921207C>G	ENST00000262189.6	-	20	3434	c.3216G>C	c.(3214-3216)caG>caC	p.Q1072H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q1072H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1072					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGTAATTGTTCTGCCATTCAC	0.418																																																	0													23.0	23.0	23.0					7																	151921207		2147	4260	6407	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3216G>C	7.37:g.151921207C>G	ENSP00000262189:p.Gln1072His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1072H	ENST00000262189.6	37	c.3216	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780506	0.49891	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85773	-2.03;-2.03	5.39	-5.04	0.02964	Zinc finger, FYVE/PHD-type (1);	0.000000	0.44285	D	0.000474	D	0.88869	0.6554	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	D	0.87618	0.2508	10	0.87932	D	0	.	15.4007	0.74838	0.0:0.161:0.0:0.839	.	1072;133	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1072	ENSP00000262189:Q1072H;ENSP00000347325:Q1072H	ENSP00000262189:Q1072H	Q	-	3	2	MLL3	151552140	0.935000	0.31712	0.924000	0.36721	0.994000	0.84299	0.060000	0.14342	-0.916000	0.03818	-0.157000	0.13467	CAG	MLL3	-	superfamily_Znf_FYVE_PHD		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151921207	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.990	G
KMT2B	9757	genome.wustl.edu	37	19	36212558	36212558	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:36212558C>T	ENST00000222270.7	+	3	2309	c.2309C>T	c.(2308-2310)cCt>cTt	p.P770L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P770L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	770	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAGCAGATGCCTCCCCTGGAA	0.627																																																	0													26.0	35.0	32.0					19																	36212558		2108	4249	6357	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2309C>T	19.37:g.36212558C>T	ENSP00000222270:p.Pro770Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,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_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P770L	ENST00000222270.7	37	c.2309	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	6.697	0.497176	0.12762	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84370	-1.84;-1.84	5.14	4.11	0.48088	.	0.460113	0.16101	U	0.229577	T	0.73705	0.3621	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.66148	-0.5996	10	0.66056	D	0.02	.	11.0422	0.47838	0.0:0.9125:0.0:0.0875	.	770	Q9UMN6	MLL4_HUMAN	L	770	ENSP00000222270:P770L;ENSP00000398837:P770L	ENSP00000222270:P770L	P	+	2	0	AD000671.1	40904398	0.000000	0.05858	0.002000	0.10522	0.254000	0.26022	0.843000	0.27640	1.401000	0.46761	0.471000	0.43371	CCT	WBP7	-	pirsf_MeTrfase_trithorax		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		C	NM_014727		36212558	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	0.005	T
MLLT10	8028	genome.wustl.edu	37	10	21962686	21962686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:21962686C>T	ENST00000307729.7	+	11	1637	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	MLLT10_ENST00000377059.3_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000377072.3_Nonsense_Mutation_p.Q487*			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	487	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAACAAAAATCAAGAGAATGT	0.403			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													89.0	89.0	89.0					10																	21962686		2203	4300	6503	SO:0001587	stop_gained	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1459C>T	10.37:g.21962686C>T	ENSP00000307411:p.Gln487*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANA8|Q5JT37|Q5VX90|Q66K63	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q487*	ENST00000307729.7	37	c.1459	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.751304	0.99255	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.	.	.	5.36	5.36	0.76844	.	0.270437	0.38005	N	0.001858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	19.076	0.93161	0.0:1.0:0.0:0.0	.	.	.	.	X	487;487;487;333;487;130;129	.	ENSP00000307411:Q487X	Q	+	1	0	MLLT10	22002692	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.013000	0.70776	2.530000	0.85305	0.585000	0.79938	CAA	MLLT10	-	NULL		0.403	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	C			21962686	+1	no_errors	ENST00000307729	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MMP16	4325	genome.wustl.edu	37	8	89068415	89068415	+	Silent	SNP	A	A	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:89068415A>C	ENST00000286614.6	-	8	1595	c.1314T>G	c.(1312-1314)ggT>ggG	p.G438G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	438					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTGAATCAATACCATGAGGGG	0.423																																																	0													115.0	109.0	111.0					8																	89068415		2203	4300	6503	SO:0001819	synonymous_variant	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1314T>G	8.37:g.89068415A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAN7|Q14824|Q52H48	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G438	ENST00000286614.6	37	c.1314	CCDS6246.1	8																																																																																			MMP16	-	superfamily_Hemopexin/matrixin,pirsf_Pept_M10A_matrix_strom		0.423	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	A	NM_005941		89068415	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	silent	SNP	0.995	C
MMS19	64210	genome.wustl.edu	37	10	99228834	99228834	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:99228834C>T	ENST00000438925.2	-	12	1287	c.952G>A	c.(952-954)Gag>Aag	p.E318K	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'Flank|MMS19_ENST00000370782.2_Missense_Mutation_p.E318K|MMS19_ENST00000355839.6_Missense_Mutation_p.E275K|MMS19_ENST00000327238.10_Intron	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	318					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCCTCTGCCTCCACCCGCTCA	0.602								Direct reversal of damage																																									0													25.0	23.0	23.0					10																	99228834		2201	4292	6493	SO:0001583	missense	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.952G>A	10.37:g.99228834C>T	ENSP00000412698:p.Glu318Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.E318K	ENST00000438925.2	37	c.952	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.252632	0.95336	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000422291;ENST00000355839	T;T;T	0.62232	0.04;0.04;0.04	4.99	4.08	0.47627	Armadillo-like helical (1);Armadillo-type fold (1);	0.048107	0.85682	N	0.000000	T	0.73179	0.3554	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.954;0.982	T	0.71497	-0.4575	10	0.07990	T	0.79	.	13.3732	0.60725	0.0:0.9237:0.0:0.0763	.	339;318;275	B4DQX2;Q96T76;B4E2I3	.;MMS19_HUMAN;.	K	318;318;297;275	ENSP00000412698:E318K;ENSP00000359818:E318K;ENSP00000348097:E275K	ENSP00000348097:E275K	E	-	1	0	MMS19	99218824	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.562000	0.82300	1.325000	0.45301	0.462000	0.41574	GAG	MMS19	-	superfamily_ARM-type_fold		0.602	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	C			99228834	-1	no_errors	ENST00000370782	ensembl	human	known	70_37	missense	SNP	1.000	T
MORC1	27136	genome.wustl.edu	37	3	108813772	108813772	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:108813772C>G	ENST00000483760.1	-	7	610	c.567G>C	c.(565-567)gtG>gtC	p.V189V	MORC1_ENST00000232603.5_Silent_p.V189V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCATAGATCACATCAAACT	0.323																																																	0													43.0	45.0	44.0					3																	108813772		2202	4297	6499	SO:0001819	synonymous_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.567G>C	3.37:g.108813772C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.V189	ENST00000483760.1	37	c.567		3																																																																																			MORC1	-	superfamily_ATPase-like_ATP-bd		0.323	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	C			108813772	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	silent	SNP	0.985	G
MPV17	4358	genome.wustl.edu	37	2	27547302	27547302	+	5'Flank	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27547302C>T	ENST00000380044.1	-	0	0				MPV17_ENST00000403262.2_5'Flank|MPV17_ENST00000405983.1_5'Flank|MPV17_ENST00000233545.2_5'Flank|MPV17_ENST00000399052.4_5'Flank|MPV17_ENST00000402310.1_5'Flank|MPV17_ENST00000402722.1_5'Flank|MPV17_ENST00000405076.1_5'Flank|MPV17_ENST00000357186.6_Missense_Mutation_p.E6K	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein						cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					atacctacctcataCAAGTGA	0.433																																																	0																																										SO:0001631	upstream_gene_variant	4358				CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074		2.37:g.27547302C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.E6K	ENST00000380044.1	37	c.16	CCDS1748.1	2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906320	0.33628	.	.	ENSG00000115204	ENST00000357186	D	0.85629	-2.01	3.78	1.98	0.26296	.	.	.	.	.	T	0.81522	0.4840	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.71151	-0.4676	6	0.49607	T	0.09	.	6.0844	0.19958	0.0:0.7664:0.0:0.2336	.	.	.	.	K	6	ENSP00000349713:E6K	ENSP00000349713:E6K	E	-	1	0	MPV17	27400806	0.000000	0.05858	0.008000	0.14137	0.028000	0.11728	-0.031000	0.12287	0.591000	0.29711	0.561000	0.74099	GAG	MPV17	-	NULL		0.433	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17	HGNC	protein_coding	OTTHUMT00000214193.1	C	NM_002437		27547302	-1	no_errors	ENST00000357186	ensembl	human	novel	70_37	missense	SNP	0.009	T
CYB5RL	606495	genome.wustl.edu	37	1	54649831	54649831	+	Intron	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:54649831G>C	ENST00000534324.1	-	4	540				RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000419823.2_Intron|CYB5RL_ENST00000542737.1_Intron|CYB5RL_ENST00000401046.3_Intron|CYB5RL_ENST00000537208.1_Intron|MRPL37_ENST00000487096.1_3'UTR|CYB5RL_ENST00000287899.8_Intron			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like								cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCTGGCACTGACCTGGTTTG	0.493																																																	0													52.0	54.0	53.0					1																	54649831		1950	4137	6087	SO:0001627	intron_variant	51253				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.540+2C>G	1.37:g.54649831G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBS4|Q8NF25	RNA	SNP	-	NULL	ENST00000534324.1	37	NULL	CCDS44151.1	1																																																																																			MRPL37	-	-		0.493	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000388318.1	G	NM_001031672		54649831	+1	no_errors	ENST00000487096	ensembl	human	known	70_37	rna	SNP	0.992	C
MTRNR2L12	100463498	genome.wustl.edu	37	3	96336107	96336107	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:96336107C>T	ENST00000600213.2	-	1	893	c.11G>A	c.(10-12)cGa>cAa	p.R4Q						MT-RNR2-like 12																		GCTGAACCCTCGTGGAGCCAT	0.463																																																	0																																										SO:0001583	missense	100462981					3q11.2	2014-02-18	2014-02-18			ENSG00000269028			37169	protein-coding gene	gene with protein product	"""humanin-like 12"""		"""MT-RNR2-like 12 (pseudogene)"""			19477263	Standard	NG_023159		Approved			P0DMP1	OTTHUMG00000175726	ENST00000600213.2:c.11G>A	3.37:g.96336107C>T	ENSP00000468991:p.Arg4Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R4Q	ENST00000600213.2	37	c.11		3																																																																																			MTRNR2L2	-	NULL		0.463	MTRNR2L12-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	MTRNR2L2	HGNC	protein_coding	OTTHUMT00000430905.2	C	NG_023159		96336107	-1	no_errors	ENST00000600213	ensembl	human	known	70_37	missense	SNP	1.000	T
MTUS2	23281	genome.wustl.edu	37	13	29599166	29599166	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:29599166G>A	ENST00000431530.3	+	1	419	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	111						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTCAATGAAGAGCACACAGT	0.507																																																	0													83.0	81.0	82.0					13																	29599166		1992	4166	6158	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.361G>A	13.37:g.29599166G>A	ENSP00000392057:p.Glu121Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E121K	ENST00000431530.3	37	c.361	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	14.43	2.534118	0.45073	.	.	ENSG00000132938	ENST00000431530	T	0.18016	2.24	5.37	4.52	0.55395	.	0.507476	0.17756	N	0.163057	T	0.17023	0.0409	L	0.57536	1.79	0.22292	N	0.999225	B	0.23806	0.091	B	0.19946	0.027	T	0.15578	-1.0432	9	.	.	.	.	8.7178	0.34423	0.0802:0.1518:0.768:0.0	.	111	Q5JR59	MTUS2_HUMAN	K	121	ENSP00000392057:E121K	.	E	+	1	0	MTUS2	28497166	0.771000	0.28555	0.028000	0.17463	0.015000	0.08874	1.788000	0.38714	1.252000	0.44001	0.563000	0.77884	GAG	MTUS2	-	NULL		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29599166	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.031	A
MYCBP2	23077	genome.wustl.edu	37	13	77625989	77625989	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:77625989C>G	ENST00000544440.2	-	81	13615	c.13598G>C	c.(13597-13599)aGa>aCa	p.R4533T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R4533T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R4571T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATGAGCTCTCTGGGATCATA	0.418																																																	0													84.0	81.0	82.0					13																	77625989		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13598G>C	13.37:g.77625989C>G	ENSP00000444596:p.Arg4533Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R4571T	ENST00000544440.2	37	c.13712		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.06|16.06	3.017080|3.017080	0.54576|0.54576	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.26957	.|1.7;1.7;1.7	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.191390	.|0.51477	.|D	.|0.000082	T|T	0.11836|0.11836	0.0288|0.0288	N|N	0.01352|0.01352	-0.895|-0.895	0.52099|0.52099	D|D	0.999945|0.999945	.|B	.|0.20261	.|0.043	.|B	.|0.19946	.|0.027	T|T	0.27872|0.27872	-1.0061|-1.0061	5|10	.|0.21540	.|T	.|0.41	.|.	19.8309|19.8309	0.96634|0.96634	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4533	.|O75592	.|MYCB2_HUMAN	H|T	953|4533;4571;4533	.|ENSP00000349892:R4533T;ENSP00000384288:R4571T;ENSP00000444596:R4533T	.|ENSP00000349892:R4533T	Q|R	-|-	3|2	2|0	MYCBP2|MYCBP2	76523990|76523990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.256000|7.256000	0.78350|0.78350	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	CAG|AGA	MYCBP2	-	NULL		0.418	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77625989	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108129586	108129586	+	Missense_Mutation	SNP	C	C	G	rs1078456	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:108129586C>G	ENST00000273353.3	-	32	4455	c.4399G>C	c.(4399-4401)Gac>Cac	p.D1467H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1467			D -> N (in dbSNP:rs1078456).			cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGCTTCCAGTCGGCAAGGGCC	0.612																																																	0													48.0	48.0	48.0					3																	108129586		2042	4207	6249	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4399G>C	3.37:g.108129586C>G	ENSP00000273353:p.Asp1467His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.D1467H	ENST00000273353.3	37	c.4399	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076100	0.36662	.	.	ENSG00000144821	ENST00000273353	T	0.78246	-1.16	5.15	2.36	0.29203	Myosin tail (1);	.	.	.	.	D	0.85818	0.5785	M	0.78049	2.395	0.35601	D	0.807857	D	0.58970	0.984	D	0.68765	0.96	D	0.88470	0.3061	9	0.87932	D	0	.	10.7695	0.46314	0.0:0.7893:0.0:0.2107	.	1467	Q9Y2K3	MYH15_HUMAN	H	1467	ENSP00000273353:D1467H	ENSP00000273353:D1467H	D	-	1	0	MYH15	109612276	0.962000	0.33011	0.005000	0.12908	0.002000	0.02628	2.996000	0.49449	0.586000	0.29626	-0.258000	0.10820	GAC	MYH15	-	pfam_Myosin_tail		0.612	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108129586	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.949	G
MYO16	23026	genome.wustl.edu	37	13	109365026	109365026	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:109365026G>C	ENST00000357550.2	+	2	285	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	MYO16_ENST00000251041.5_Missense_Mutation_p.E82Q|MYO16_ENST00000356711.2_Missense_Mutation_p.E82Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTGAAGGAGGGGGCAGA	0.562																																																	0													126.0	105.0	112.0					13																	109365026		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.244G>C	13.37:g.109365026G>C	ENSP00000350160:p.Glu82Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E82Q	ENST00000357550.2	37	c.244	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357703	0.61403	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	4.43	0.53597	Ankyrin repeat-containing domain (4);	0.198276	0.23758	U	0.044859	T	0.49133	0.1539	N	0.10645	0.015	0.80722	D	1	B;D	0.58970	0.298;0.984	B;P	0.54140	0.143;0.743	T	0.41980	-0.9478	9	.	.	.	.	8.8503	0.35194	0.0995:0.0:0.9005:0.0	.	82;82	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Q	82	ENSP00000349145:E82Q;ENSP00000350160:E82Q;ENSP00000251041:E82Q	.	E	+	1	0	MYO16	108163027	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.660000	0.54496	2.473000	0.83533	0.650000	0.86243	GAG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.562	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109365026	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO18A	399687	genome.wustl.edu	37	17	27425864	27425864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:27425864C>A	ENST00000527372.1	-	23	3940	c.3760G>T	c.(3760-3762)Gag>Tag	p.E1254*	MYO18A_ENST00000531253.1_Nonsense_Mutation_p.E1254*|MYO18A_ENST00000533112.1_Nonsense_Mutation_p.E1254*|MYO18A_ENST00000354329.4_Nonsense_Mutation_p.E1254*	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1254					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGGATCTGCTCCTCTGACAGC	0.527																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													134.0	133.0	133.0					17																	27425864		1947	4148	6095	SO:0001587	stop_gained	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3760G>T	17.37:g.27425864C>A	ENSP00000437073:p.Glu1254*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.E1254*	ENST00000527372.1	37	c.3760	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.184498	0.99528	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	X	1254;1254;1254;1254;1254;150;150;866	.	ENSP00000346291:E1254X	E	-	1	0	MYO18A	24449990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.411000	0.80078	2.837000	0.97791	0.655000	0.94253	GAG	MYO18A	-	pfam_Myosin_tail		0.527	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	C	NM_078471		27425864	-1	no_errors	ENST00000354329	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYO1B	4430	genome.wustl.edu	37	2	192227049	192227049	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:192227049G>A	ENST00000392318.3	+	9	964	c.717G>A	c.(715-717)tcG>tcA	p.S239S	MYO1B_ENST00000392316.1_Silent_p.S239S|MYO1B_ENST00000304164.4_Silent_p.S239S|MYO1B_ENST00000339514.4_Silent_p.S239S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	239	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTCTGGATTCGGCCAAAGTGA	0.393																																																	0													135.0	127.0	129.0					2																	192227049		2203	4300	6503	SO:0001819	synonymous_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.717G>A	2.37:g.192227049G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43794|Q7Z6L5	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S239	ENST00000392318.3	37	c.717	CCDS46477.1	2																																																																																			MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	G	NM_012223		192227049	+1	no_errors	ENST00000304164	ensembl	human	known	70_37	silent	SNP	0.001	A
MYO5A	4644	genome.wustl.edu	37	15	52656783	52656783	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:52656783C>T	ENST00000399231.3	-	24	3520	c.3277G>A	c.(3277-3279)Gat>Aat	p.D1093N	MYO5A_ENST00000399233.2_Missense_Mutation_p.D1093N|MYO5A_ENST00000553916.1_Missense_Mutation_p.D1093N|MYO5A_ENST00000356338.6_Missense_Mutation_p.D1093N|MYO5A_ENST00000358212.6_Missense_Mutation_p.D1093N	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1093					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGAGGTCATCATATCTTTCT	0.343																																																	0													160.0	144.0	149.0					15																	52656783		1841	4086	5927	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3277G>A	15.37:g.52656783C>T	ENSP00000382177:p.Asp1093Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1093N	ENST00000399231.3	37	c.3277	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.187380	0.94923	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.22	5.22	0.72569	.	0.047236	0.85682	D	0.000000	T	0.22898	0.0553	L	0.57536	1.79	0.80722	D	1	P;P	0.47302	0.458;0.893	B;B	0.35813	0.091;0.211	T	0.06127	-1.0844	10	0.42905	T	0.14	.	19.1421	0.93449	0.0:1.0:0.0:0.0	.	1093;1093	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	N	1093;627;1093;1093;1093;723;1093	ENSP00000382177:D1093N;ENSP00000382179:D1093N;ENSP00000348693:D1093N;ENSP00000350945:D1093N;ENSP00000451109:D1093N	ENSP00000348693:D1093N	D	-	1	0	MYO5A	50444075	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.723000	0.68492	2.590000	0.87494	0.655000	0.94253	GAT	MYO5A	-	NULL		0.343	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52656783	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO9A	4649	genome.wustl.edu	37	15	72120255	72120255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:72120255C>A	ENST00000356056.5	-	41	7625	c.7153G>T	c.(7153-7155)Gag>Tag	p.E2385*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E2366*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E2456*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E2385*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2385	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTCAGACTCCATATTCAAA	0.418																																																	0													100.0	101.0	101.0					15																	72120255		2199	4297	6496	SO:0001587	stop_gained	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7153G>T	15.37:g.72120255C>A	ENSP00000348349:p.Glu2385*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E2456*	ENST00000356056.5	37	c.7366	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.696271	0.98438	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.84	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.8573	0.86009	0.0:0.8714:0.1286:0.0	.	.	.	.	X	2385;2456;2366	.	ENSP00000348349:E2385X	E	-	1	0	MYO9A	69907309	1.000000	0.71417	0.978000	0.43139	0.958000	0.62258	4.578000	0.60929	1.450000	0.47717	0.655000	0.94253	GAG	MYO9A	-	NULL		0.418	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72120255	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYO9A	4649	genome.wustl.edu	37	15	72172110	72172110	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:72172110C>T	ENST00000356056.5	-	30	6163	c.5691G>A	c.(5689-5691)ctG>ctA	p.L1897L	MYO9A_ENST00000444904.1_Silent_p.L1878L|MYO9A_ENST00000424560.1_Silent_p.L1968L|MYO9A_ENST00000564571.1_Silent_p.L1897L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1897	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAATTCCTTCAGGGCTTTTT	0.363																																																	0													108.0	105.0	106.0					15																	72172110		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5691G>A	15.37:g.72172110C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L1968	ENST00000356056.5	37	c.5904	CCDS10239.1	15																																																																																			MYO9A	-	NULL		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72172110	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	silent	SNP	0.999	T
MYSM1	114803	genome.wustl.edu	37	1	59165694	59165694	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:59165694C>T	ENST00000472487.1	-	1	70	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	11					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACGTCCCCTTCGATATCCACA	0.677																																																	0													31.0	39.0	37.0					1																	59165694		1918	4120	6038	SO:0001583	missense	114803			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.31G>A	1.37:g.59165694C>T	ENSP00000418734:p.Glu11Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.E11K	ENST00000472487.1	37	c.31	CCDS41343.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567651	0.86439	.	.	ENSG00000162601	ENST00000472487	T	0.33865	1.39	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.34521	1.04	0.49299	D	0.999775	D	0.76494	0.999	D	0.68621	0.959	T	0.44128	-0.9348	10	0.66056	D	0.02	-19.4114	13.234	0.59958	0.0:1.0:0.0:0.0	.	11	Q5VVJ2	MYSM1_HUMAN	K	11	ENSP00000418734:E11K	ENSP00000418734:E11K	E	-	1	0	MYSM1	58938282	0.992000	0.36948	0.997000	0.53966	0.993000	0.82548	3.861000	0.56002	2.560000	0.86352	0.655000	0.94253	GAA	MYSM1	-	NULL		0.677	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	C	XM_055481		59165694	-1	no_errors	ENST00000472487	ensembl	human	known	70_37	missense	SNP	1.000	T
NACC1	112939	genome.wustl.edu	37	19	13248327	13248327	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:13248327G>A	ENST00000292431.4	+	5	1388	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	421	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACCGGCATCCGCTCTTCTACC	0.672																																																	0													18.0	19.0	19.0					19																	13248327		2201	4294	6495	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1262G>A	19.37:g.13248327G>A	ENSP00000292431:p.Arg421His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R421H	ENST00000292431.4	37	c.1262	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316147	0.81469	.	.	ENSG00000160877	ENST00000292431	T	0.47869	0.83	4.33	4.33	0.51752	BEN domain (2);	0.064498	0.64402	D	0.000010	T	0.53498	0.1800	N	0.19112	0.55	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.60306	-0.7289	10	0.87932	D	0	.	14.4268	0.67220	0.0:0.0:1.0:0.0	.	421	Q96RE7	NACC1_HUMAN	H	421	ENSP00000292431:R421H	ENSP00000292431:R421H	R	+	2	0	NACC1	13109327	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	9.177000	0.94849	2.267000	0.75376	0.555000	0.69702	CGC	NACC1	-	pfam_BEN_domain		0.672	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	G	NM_052876		13248327	+1	no_errors	ENST00000292431	ensembl	human	known	70_37	missense	SNP	1.000	A
NBEA	26960	genome.wustl.edu	37	13	35736037	35736037	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:35736037C>G	ENST00000400445.3	+	23	4546	c.4012C>G	c.(4012-4014)Cca>Gca	p.P1338A	NBEA_ENST00000540320.1_Missense_Mutation_p.P1338A|NBEA_ENST00000310336.4_Missense_Mutation_p.P1338A|NBEA_ENST00000379939.2_Missense_Mutation_p.P1338A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1338					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)		TAAATGGTCTCCAATGCACCA	0.398																																																	0													80.0	77.0	78.0					13																	35736037		1925	4125	6050	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4012C>G	13.37:g.35736037C>G	ENSP00000383295:p.Pro1338Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	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.P1338A	ENST00000400445.3	37	c.4012	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	7.479	0.648351	0.14516	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.82	3.96	0.45880	.	0.220091	0.39544	N	0.001334	T	0.34978	0.0916	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10019	-1.0648	10	0.15066	T	0.55	.	15.2475	0.73517	0.0:0.8585:0.1415:0.0	.	1338;1338	Q8NFP9;Q5T321	NBEA_HUMAN;.	A	1338	ENSP00000440951:P1338A;ENSP00000383295:P1338A;ENSP00000369271:P1338A;ENSP00000308534:P1338A	ENSP00000308534:P1338A	P	+	1	0	NBEA	34634037	0.805000	0.28982	0.990000	0.47175	0.998000	0.95712	2.092000	0.41700	1.128000	0.42052	0.591000	0.81541	CCA	NBEA	-	NULL		0.398	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35736037	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	0.992	G
HAND2-AS1	79804	genome.wustl.edu	37	4	174458096	174458096	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:174458096G>C	ENST00000504429.1	+	0	335				HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000515345.1_RNA					HAND2 antisense RNA 1 (head to head)																		TGTGACTCCAGAAAGACAAAC	0.517											OREG0016413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												79804					4q34.1	2013-07-16			ENSG00000237125	ENSG00000237125		"""Long non-coding RNAs"""	48872	non-coding RNA	RNA, long non-coding	"""neuroblastoma transcript 301"", ""differentially expressed in neuroblastoma"""					18171985, 19348682	Standard	NR_003679		Approved	DEIN, NBLA00301, FLJ11539			OTTHUMG00000160783		4.37:g.174458096G>C		Somatic	1916	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000504429.1	37	NULL		4																																																																																			RP11-471J12.1	-	-		0.517	HAND2-AS1-029	KNOWN	basic|exp_conf	antisense	NBLA00301	Clone_based_vega_gene	antisense	OTTHUMT00000364287.1	G			174458096	+1	no_errors	ENST00000502334	ensembl	human	known	70_37	rna	SNP	1.000	C
NBPF20	100288142	genome.wustl.edu	37	1	148252781	148252781	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:148252781C>G	ENST00000369202.1	-	110	13768	c.13571G>C	c.(13570-13572)aGa>aCa	p.R4524T				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	845						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						tccccttcttcttttcttctt	0.423																																																	0																																										SO:0001583	missense	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.13571G>C	1.37:g.148252781C>G	ENSP00000358203:p.Arg4524Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.R4524T	ENST00000369202.1	37	c.13571		1	.	.	.	.	.	.	.	.	.	.	.	7.954	0.745419	0.15710	.	.	ENSG00000203832	ENST00000414231;ENST00000369202;ENST00000446099;ENST00000430395	T	0.04970	3.52	.	.	.	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.22835	N	0.99868	P;P;.	0.50443	0.462;0.935;.	B;P;.	0.52066	0.227;0.689;.	T	0.23261	-1.0193	5	0.87932	D	0	.	.	.	.	.	172;835;4524	B4DS78;Q8IX62;A2BH96	.;.;.	T	574;4524;77;172	ENSP00000358203:R4524T	ENSP00000358203:R4524T	R	-	2	0	NBPF20	146619405	0.003000	0.15002	0.041000	0.18516	0.046000	0.14306	-1.029000	0.03585	0.064000	0.16427	0.064000	0.15345	AGA	NBPF20	-	NULL		0.423	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	C			148252781	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	missense	SNP	0.042	G
NBPF20	100288142	genome.wustl.edu	37	1	148343671	148343671	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:148343671G>A	ENST00000369202.1	-	4	613	c.416C>T	c.(415-417)tCc>tTc	p.S139F	NBPF20_ENST00000414710.2_Missense_Mutation_p.S139F			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	139						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTGCCCCTGGGACTTGTCCGG	0.582																																																	0													4.0	5.0	5.0					1																	148343671		1085	2165	3250	SO:0001583	missense	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.416C>T	1.37:g.148343671G>A	ENSP00000358203:p.Ser139Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.S139F	ENST00000369202.1	37	c.416		1	.	.	.	.	.	.	.	.	.	.	.	4.833	0.154916	0.09236	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000369189;ENST00000414710	T;T;T;T	0.04156	4.04;4.08;4.01;3.69	0.521	-1.04	0.10068	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.23524	N	0.997495	D;D;B;P	0.58970	0.984;0.972;0.074;0.676	D;P;B;P	0.63877	0.919;0.831;0.085;0.485	T	0.27905	-1.0060	6	0.11182	T	0.66	.	.	.	.	.	64;139;139;64	Q6P3W6-2;Q6P3W6;F5H1Q5;Q5VTG7	.;NBPFA_HUMAN;.;.	F	139;139;64;139	ENSP00000358203:S139F;ENSP00000358189:S139F;ENSP00000358190:S64F;ENSP00000389520:S139F	ENSP00000358189:S139F	S	-	2	0	NBPF20	146710295	0.025000	0.19082	0.016000	0.15963	0.047000	0.14425	-1.471000	0.02344	-0.591000	0.05859	0.184000	0.17185	TCC	NBPF20	-	NULL		0.582	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	G			148343671	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	missense	SNP	0.020	A
NBPF22P	285622	genome.wustl.edu	37	5	85583496	85583496	+	RNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:85583496C>T	ENST00000590707.1	+	0	762					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		ACCCCAGGCTCAGCCAGGAGC	0.527																																																	0																																												285622			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85583496C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-		0.527	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	C	XM_208333		85583496	+1	no_errors	ENST00000590707	ensembl	human	known	70_37	rna	SNP	0.000	T
NCDN	23154	genome.wustl.edu	37	1	36023765	36023765	+	5'UTR	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:36023765C>G	ENST00000373243.2	+	0	357				NCDN_ENST00000356090.4_5'UTR|NCDN_ENST00000459931.1_3'UTR|KIAA0319L_ENST00000325722.3_5'Flank|NCDN_ENST00000373253.3_Intron	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin						bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGTGATCTCATCGCCGCCC	0.557																																																	0													180.0	135.0	151.0					1																	36023765		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.-27C>G	1.37:g.36023765C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	RNA	SNP	-	NULL	ENST00000373243.2	37	NULL	CCDS392.1	1																																																																																			NCDN	-	-		0.557	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	C	NM_014284		36023765	+1	no_errors	ENST00000459931	ensembl	human	known	70_37	rna	SNP	1.000	G
NCKAP5	344148	genome.wustl.edu	37	2	133887672	133887672	+	Silent	SNP	C	C	T	rs371025656		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:133887672C>T	ENST00000409261.1	-	6	592	c.219G>A	c.(217-219)ctG>ctA	p.L73L	NCKAP5_ENST00000405974.3_Silent_p.L73L|NCKAP5_ENST00000409213.1_Silent_p.L73L|NCKAP5_ENST00000317721.6_Silent_p.L73L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	73										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCATGTATCAGCTTCTCAT	0.413																																																	0													72.0	67.0	69.0					2																	133887672		1900	4116	6016	SO:0001819	synonymous_variant	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.219G>A	2.37:g.133887672C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.L73	ENST00000409261.1	37	c.219	CCDS46418.1	2																																																																																			NCKAP5	-	NULL		0.413	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133887672	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	silent	SNP	1.000	T
NCR3LG1	374383	genome.wustl.edu	37	11	17378247	17378247	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:17378247G>A	ENST00000338965.4	+	2	364	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_001202439.1	NP_001189368.1	Q68D85	NR3L1_HUMAN	natural killer cell cytotoxicity receptor 3 ligand 1	40	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral capsid (GO:0019028)	structural molecule activity (GO:0005198)										TCACACCCCTGAATGACAATG	0.433																																																	0																																										SO:0001819	synonymous_variant	374383				CCDS55748.1	11p15.1	2014-01-30			ENSG00000188211	ENSG00000188211		"""Immunoglobulin superfamily / C1-set domain containing"", ""Endogenous ligands"""	42400	protein-coding gene	gene with protein product	"""B7 homolog 6"""	613714				19528259	Standard	XR_242803		Approved	DKFZp686O24166, B7-H6	uc001mmz.4	Q68D85	OTTHUMG00000165913	ENST00000338965.4:c.120G>A	11.37:g.17378247G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3M6	Silent	SNP	pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.L40	ENST00000338965.4	37	c.120	CCDS55748.1	11																																																																																			NCR3LG1	-	smart_Ig_sub		0.433	NCR3LG1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NCR3LG1	HGNC	protein_coding	OTTHUMT00000387035.2	G	NM_001202439		17378247	+1	no_errors	ENST00000530403	ensembl	human	known	70_37	silent	SNP	0.101	A
NCSTN	23385	genome.wustl.edu	37	1	160322992	160322992	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:160322992C>T	ENST00000294785.5	+	10	1269	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	NCSTN_ENST00000392212.4_Missense_Mutation_p.P362S|NCSTN_ENST00000535857.1_Missense_Mutation_p.P244S|NCSTN_ENST00000368063.1_Missense_Mutation_p.P362S|NCSTN_ENST00000368065.4_Missense_Mutation_p.P124S|NCSTN_ENST00000459963.1_3'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	382					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACACAGATCCTGTTTCTCA	0.493																																																	0													117.0	106.0	110.0					1																	160322992		2203	4300	6503	SO:0001583	missense	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1144C>T	1.37:g.160322992C>T	ENSP00000294785:p.Pro382Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	pfam_Nicastrin	p.P382S	ENST00000294785.5	37	c.1144	CCDS1203.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894995	0.91962	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T;T;T	0.74106	-0.54;-0.54;-0.81;-0.54;-0.54;-0.54;-0.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.67397	2.05	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	0.82244	-0.0553	10	0.49607	T	0.09	-21.4359	18.6269	0.91344	0.0:1.0:0.0:0.0	.	244;362;382	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	S	382;362;244;244;89;362;124;126	ENSP00000294785:P382S;ENSP00000357042:P362S;ENSP00000390409:P244S;ENSP00000442605:P244S;ENSP00000376047:P362S;ENSP00000357044:P124S;ENSP00000410124:P126S	ENSP00000294785:P382S	P	+	1	0	NCSTN	158589616	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.698000	0.68302	2.735000	0.93741	0.655000	0.94253	CCT	NCSTN	-	pfam_Nicastrin		0.493	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	C	NM_015331		160322992	+1	no_errors	ENST00000294785	ensembl	human	known	70_37	missense	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152507262	152507262	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:152507262C>G	ENST00000172853.10	-	53	7200	c.7053G>C	c.(7051-7053)gaG>gaC	p.E2351D	NEB_ENST00000409198.1_Missense_Mutation_p.E2351D|NEB_ENST00000603639.1_Missense_Mutation_p.E2351D|NEB_ENST00000397345.3_Missense_Mutation_p.E2351D|NEB_ENST00000604864.1_Missense_Mutation_p.E2351D|NEB_ENST00000427231.2_Missense_Mutation_p.E2351D			P20929	NEBU_HUMAN	nebulin	2351					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)		TTTTCCACTTCTCAAAGTCCT	0.458																																																	0													264.0	265.0	265.0					2																	152507262		1990	4170	6160	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7053G>C	2.37:g.152507262C>G	ENSP00000172853:p.Glu2351Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E2351D	ENST00000172853.10	37	c.7053		2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223941	0.58668	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.47	2.71	0.32032	.	0.116225	0.64402	D	0.000020	T	0.72724	0.3496	M	0.86953	2.85	0.80722	D	1	D	0.55172	0.97	P	0.59221	0.854	T	0.73288	-0.4030	10	0.56958	D	0.05	.	10.1123	0.42570	0.0:0.6723:0.0:0.3277	.	2351	P20929	NEBU_HUMAN	D	2351	ENSP00000386259:E2351D;ENSP00000380505:E2351D;ENSP00000416578:E2351D;ENSP00000172853:E2351D	ENSP00000172853:E2351D	E	-	3	2	NEB	152215508	0.961000	0.32948	1.000000	0.80357	0.989000	0.77384	0.107000	0.15375	0.292000	0.22492	0.650000	0.86243	GAG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152507262	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.997	G
NEDD1	121441	genome.wustl.edu	37	12	97330437	97330437	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:97330437C>T	ENST00000266742.4	+	8	1107	c.768C>T	c.(766-768)ttC>ttT	p.F256F	NEDD1_ENST00000457368.2_Silent_p.F167F|NEDD1_ENST00000429527.2_Silent_p.F256F|NEDD1_ENST00000557644.1_Silent_p.F263F|NEDD1_ENST00000411739.2_Silent_p.F167F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	256					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CGGTAGATTTCATGCCTGATG	0.403																																																	0													69.0	67.0	68.0					12																	97330437		2203	4299	6502	SO:0001819	synonymous_variant	121441				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.768C>T	12.37:g.97330437C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0AZN0|B4E145|G3V3F1|Q8NA30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F263	ENST00000266742.4	37	c.789	CCDS9063.1	12																																																																																			NEDD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD1	HGNC	protein_coding	OTTHUMT00000409792.1	C			97330437	+1	no_errors	ENST00000557644	ensembl	human	known	70_37	silent	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204970376	204970376	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:204970376T>C	ENST00000401399.1	+	25	3297	c.3098T>C	c.(3097-3099)tTc>tCc	p.F1033S	NFASC_ENST00000339876.6_Missense_Mutation_p.F1033S|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.F1125S|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.F1140S|NFASC_ENST00000367170.4_Missense_Mutation_p.F1061S|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron			O94856	NFASC_HUMAN	neurofascin	1140	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCACAATTTCGGGCCCGGA	0.587																																																	0													87.0	76.0	79.0					1																	204970376		1567	3582	5149	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3098T>C	1.37:g.204970376T>C	ENSP00000385637:p.Phe1033Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1140S	ENST00000401399.1	37	c.3419	CCDS53460.1	1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451251	0.43531	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.39	5.39	0.77823	.	0.522022	0.17533	N	0.170815	T	0.47857	0.1468	L	0.47716	1.5	0.80722	D	1	B	0.34015	0.435	B	0.38842	0.283	T	0.35847	-0.9772	10	0.21014	T	0.42	.	11.1517	0.48462	0.1378:0.0:0.0:0.8622	.	1033	O94856-9	.	S	1140;1125;1061;1033;1033	ENSP00000356140:F1140S;ENSP00000356139:F1125S;ENSP00000356138:F1061S;ENSP00000344786:F1033S;ENSP00000385637:F1033S	ENSP00000344786:F1033S	F	+	2	0	NFASC	203236999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.246000	0.58740	2.054000	0.61138	0.533000	0.62120	TTC	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	T	NM_001005388		204970376	+1	no_errors	ENST00000367172	ensembl	human	known	70_37	missense	SNP	1.000	C
NFKB2	4791	genome.wustl.edu	37	10	104159337	104159337	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:104159337G>A	ENST00000369966.3	+	14	1581	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	NFKB2_ENST00000189444.6_Missense_Mutation_p.R444Q|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.R444Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	444					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCCGTAGCTCGAGAGTACAAC	0.736			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													6.0	8.0	7.0					10																	104159337		1797	3885	5682	SO:0001583	missense	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1331G>A	10.37:g.104159337G>A	ENSP00000358983:p.Arg444Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.R444Q	ENST00000369966.3	37	c.1331	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391014	0.42410	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.15834	2.39;2.39;2.39	4.83	3.93	0.45458	.	0.497718	0.20095	N	0.099342	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	P;P	0.48089	0.905;0.905	B;B	0.32533	0.147;0.147	T	0.21793	-1.0235	10	0.15952	T	0.53	.	7.3375	0.26617	0.1932:0.0:0.8068:0.0	.	444;444	Q00653;A8K9D9	NFKB2_HUMAN;.	Q	444	ENSP00000410256:R444Q;ENSP00000358983:R444Q;ENSP00000189444:R444Q	ENSP00000189444:R444Q	R	+	2	0	NFKB2	104149327	0.842000	0.29525	0.890000	0.34922	0.420000	0.31355	1.709000	0.37909	1.279000	0.44446	0.511000	0.50034	CGA	NFKB2	-	NULL		0.736	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	G			104159337	+1	no_errors	ENST00000369966	ensembl	human	known	70_37	missense	SNP	0.131	A
NHS	4810	genome.wustl.edu	37	X	17746794	17746794	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:17746794C>G	ENST00000380060.3	+	7	4523	c.4185C>G	c.(4183-4185)atC>atG	p.I1395M	NHS_ENST00000398097.3_Missense_Mutation_p.I1239M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1416					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATGACTCCATCATTTCACCAC	0.428																																																	0													105.0	96.0	99.0					X																	17746794		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4185C>G	X.37:g.17746794C>G	ENSP00000369400:p.Ile1395Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.I1395M	ENST00000380060.3	37	c.4185	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341673	0.24339	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.46819	0.86;0.87	6.06	2.24	0.28232	.	0.852401	0.11035	N	0.606813	T	0.36441	0.0967	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12013	0.005;0.001;0.001;0.005	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.29731	-1.0002	10	0.41790	T	0.15	-0.0926	4.807	0.13325	0.207:0.2804:0.4358:0.0767	.	1416;1237;1239;1395	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	1395;1239;1237	ENSP00000369400:I1395M;ENSP00000381170:I1239M	ENSP00000369397:I1237M	I	+	3	3	NHS	17656715	0.982000	0.34865	0.071000	0.20095	0.990000	0.78478	0.490000	0.22403	0.012000	0.14892	0.600000	0.82982	ATC	NHS	-	NULL		0.428	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17746794	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.039	G
NIPBL	25836	genome.wustl.edu	37	5	36971070	36971070	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:36971070C>G	ENST00000282516.8	+	7	1202	c.703C>G	c.(703-705)Cat>Gat	p.H235D	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.H235D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	235					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGCTAATCATCATGCTGATAA	0.383																																																	0													117.0	105.0	109.0					5																	36971070		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.703C>G	5.37:g.36971070C>G	ENSP00000282516:p.His235Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H235D	ENST00000282516.8	37	c.703	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418194	0.62622	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93811	-3.28;-3.29	5.58	5.58	0.84498	.	0.071652	0.64402	D	0.000020	D	0.87888	0.6291	N	0.19112	0.55	0.39850	D	0.973236	P;P	0.38677	0.51;0.642	B;B	0.35278	0.058;0.199	D	0.86649	0.1897	10	0.23302	T	0.38	.	19.517	0.95169	0.0:1.0:0.0:0.0	.	235;235	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	235	ENSP00000282516:H235D;ENSP00000406266:H235D	ENSP00000282516:H235D	H	+	1	0	NIPBL	37006827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.380000	0.59581	2.780000	0.95670	0.655000	0.94253	CAT	NIPBL	-	NULL		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36971070	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	G
NIPSNAP1	8508	genome.wustl.edu	37	22	29956795	29956795	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:29956795G>C	ENST00000216121.7	-	8	888	c.634C>G	c.(634-636)Cag>Gag	p.Q212E		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	212					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TGGTTCTCCTGCCGGTACTTG	0.577																																																	1	Unknown(1)	lung(1)											107.0	105.0	106.0					22																	29956795		2203	4300	6503	SO:0001583	missense	8508			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.634C>G	22.37:g.29956795G>C	ENSP00000216121:p.Gln212Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAY3|O43800	Missense_Mutation	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.Q212E	ENST00000216121.7	37	c.634	CCDS13860.1	22	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951558	0.92660	.	.	ENSG00000184117	ENST00000216121	T	0.39787	1.06	4.91	4.91	0.64330	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.76433	2.335	0.80722	D	1	D;P	0.56746	0.977;0.592	D;B	0.62955	0.909;0.349	T	0.67829	-0.5569	10	0.72032	D	0.01	-2.0456	18.6528	0.91437	0.0:0.0:1.0:0.0	.	192;212	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	E	212	ENSP00000216121:Q212E	ENSP00000216121:Q212E	Q	-	1	0	NIPSNAP1	28286795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.449000	0.80643	2.716000	0.92895	0.561000	0.74099	CAG	NIPSNAP1	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.577	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	HGNC	protein_coding	OTTHUMT00000322117.1	G			29956795	-1	no_errors	ENST00000216121	ensembl	human	known	70_37	missense	SNP	1.000	C
NKAP	79576	genome.wustl.edu	37	X	119059328	119059328	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:119059328C>T	ENST00000371410.3	-	9	1269	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	NKAP_ENST00000477789.1_5'UTR|AC002477.1_ENST00000581061.1_RNA|RP3-327A19.5_ENST00000455986.1_RNA	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	368	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R368Q(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTCTTTTCGCAGTCGCAC	0.408																																																	1	Substitution - Missense(1)	endometrium(1)											128.0	115.0	120.0					X																	119059328		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1103G>A	X.37:g.119059328C>T	ENSP00000360464:p.Arg368Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.R368Q	ENST00000371410.3	37	c.1103	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.623817	0.96660	.	.	ENSG00000101882	ENST00000371410	T	0.38401	1.14	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76708	-0.2860	10	0.72032	D	0.01	-1.9081	17.8402	0.88713	0.0:1.0:0.0:0.0	.	368	Q8N5F7	NKAP_HUMAN	Q	368	ENSP00000360464:R368Q	ENSP00000360464:R368Q	R	-	2	0	NKAP	118943356	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	7.759000	0.85235	2.432000	0.82394	0.600000	0.82982	CGA	NKAP	-	pfam_DUF926		0.408	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	HGNC	protein_coding	OTTHUMT00000058072.1	C	NM_024528		119059328	-1	no_errors	ENST00000371410	ensembl	human	known	70_37	missense	SNP	1.000	T
NLGN1	22871	genome.wustl.edu	37	3	173997105	173997105	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:173997105C>G	ENST00000457714.1	+	6	1743	c.1314C>G	c.(1312-1314)ttC>ttG	p.F438L	NLGN1_ENST00000361589.4_Missense_Mutation_p.F438L|NLGN1_ENST00000401917.3_Missense_Mutation_p.F478L|NLGN1_ENST00000545397.1_Missense_Mutation_p.F438L|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	455					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCATTAAGTTCATGTATACTG	0.398																																																	0													102.0	102.0	102.0					3																	173997105		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1314C>G	3.37:g.173997105C>G	ENSP00000392500:p.Phe438Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.F478L	ENST00000457714.1	37	c.1434	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611771	0.66558	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.89	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.72624	2.21	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71945	-0.4439	10	0.48119	T	0.1	.	6.6039	0.22714	0.0:0.3726:0.0:0.6274	.	478;438	D2X2H5;Q8N2Q7-2	.;.	L	438;438;438;478	ENSP00000392500:F438L;ENSP00000354541:F438L;ENSP00000441108:F438L;ENSP00000385750:F478L	ENSP00000354541:F438L	F	+	3	2	NLGN1	175479799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.550000	0.36223	0.409000	0.25649	0.563000	0.77884	TTC	NLGN1	-	pfam_CarbesteraseB		0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	C	NM_014932		173997105	+1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	G
NLRC3	197358	genome.wustl.edu	37	16	3613849	3613849	+	RNA	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:3613849G>C	ENST00000301749.7	-	0	1494				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCATGAGTAGAGCTCGCACA	0.672																																																	0													37.0	41.0	40.0					16																	3613849		2000	4154	6154			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613849G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L410	ENST00000301749.7	37	c.1230		16																																																																																			NLRC3	-	NULL		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3613849	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	silent	SNP	0.871	C
NMD3	51068	genome.wustl.edu	37	3	160965077	160965077	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:160965077G>A	ENST00000460469.1	+	12	1617	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	NMD3_ENST00000472947.1_Missense_Mutation_p.E388K|NMD3_ENST00000351193.2_Missense_Mutation_p.E388K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	388					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTAAATGATGAGCATGTCAA	0.333																																																	0													176.0	170.0	172.0					3																	160965077		2203	4300	6503	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1162G>A	3.37:g.160965077G>A	ENSP00000419004:p.Glu388Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.E388K	ENST00000460469.1	37	c.1162	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809952	0.50421	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.44482	0.93;0.92;0.93	4.81	4.81	0.61882	.	0.109252	0.64402	D	0.000009	T	0.44498	0.1296	M	0.76170	2.325	0.80722	D	1	B;B;B	0.18166	0.009;0.026;0.011	B;B;B	0.19391	0.015;0.025;0.003	T	0.42515	-0.9447	10	0.12103	T	0.63	-14.9259	17.7312	0.88378	0.0:0.0:1.0:0.0	.	388;388;388	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	K	388;388;388;268	ENSP00000307525:E388K;ENSP00000417559:E388K;ENSP00000419004:E388K	ENSP00000307525:E388K	E	+	1	0	NMD3	162447771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.787000	0.91830	2.598000	0.87819	0.650000	0.86243	GAG	NMD3	-	NULL		0.333	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	G	NM_015938		160965077	+1	no_errors	ENST00000351193	ensembl	human	known	70_37	missense	SNP	1.000	A
NOX4	50507	genome.wustl.edu	37	11	89133529	89133529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:89133529C>A	ENST00000263317.4	-	10	1103	c.865G>T	c.(865-867)Gga>Tga	p.G289*	NOX4_ENST00000343727.5_Nonsense_Mutation_p.G265*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.G310*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000535633.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.G123*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Nonsense_Mutation_p.G265*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Nonsense_Mutation_p.G289*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.G264*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	289	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CACAAAGGTCCAGAAATCCAA	0.398																																																	0													45.0	44.0	44.0					11																	89133529		2201	4299	6500	SO:0001587	stop_gained	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.865G>T	11.37:g.89133529C>A	ENSP00000263317:p.Gly289*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.G310*	ENST00000263317.4	37	c.928	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.490230	0.98316	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	5.24	4.29	0.51040	.	0.398293	0.26383	N	0.024697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9997	15.1507	0.72696	0.1418:0.8582:0.0:0.0	.	.	.	.	X	265;265;265;289;289;265;265;265;123;264;310	.	.	G	-	1	0	NOX4	88773177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.445000	0.60007	2.455000	0.83008	0.561000	0.74099	GGA	NOX4	-	NULL		0.398	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	C	NM_016931		89133529	-1	no_errors	ENST00000413594	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NPHP1	4867	genome.wustl.edu	37	2	110881535	110881535	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:110881535C>G	ENST00000393272.3	-	20	2129	c.2032G>C	c.(2032-2034)Gag>Cag	p.E678Q	NPHP1_ENST00000445609.2_Missense_Mutation_p.E623Q|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000417665.1_Missense_Mutation_p.E657Q|NPHP1_ENST00000316534.4_Missense_Mutation_p.E679Q|NPHP1_ENST00000355301.4_Missense_Mutation_p.E560Q	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	678					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GTCTCAGTCTCTTCTTCTGCC	0.527																																																	0													138.0	133.0	134.0					2																	110881535		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2032G>C	2.37:g.110881535C>G	ENSP00000376953:p.Glu678Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E679Q	ENST00000393272.3	37	c.2035	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559477	0.45590	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.63096	0.05;0.06;0.04;0.06;-0.02	5.5	5.5	0.81552	.	0.197879	0.41938	D	0.000800	T	0.78521	0.4296	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.959;0.973;0.997;0.982;0.999	T	0.79825	-0.1640	10	0.66056	D	0.02	-21.8648	17.9455	0.89036	0.0:1.0:0.0:0.0	.	622;560;678;623;679	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	Q	679;623;678;560;657	ENSP00000313169:E679Q;ENSP00000389879:E623Q;ENSP00000376953:E678Q;ENSP00000347452:E560Q;ENSP00000402176:E657Q	ENSP00000313169:E679Q	E	-	1	0	NPHP1	110238824	0.999000	0.42202	0.691000	0.30163	0.114000	0.19823	5.303000	0.65738	2.580000	0.87095	0.462000	0.41574	GAG	NPHP1	-	NULL		0.527	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	C	NM_000272		110881535	-1	no_errors	ENST00000316534	ensembl	human	known	70_37	missense	SNP	0.974	G
NPHP3	27031	genome.wustl.edu	37	3	132408001	132408001	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:132408001C>T	ENST00000337331.5	-	20	2886	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	934					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTCGCCTTCGCAGTTTTTC	0.438																																																	0													145.0	134.0	138.0					3																	132408001		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2800G>A	3.37:g.132408001C>T	ENSP00000338766:p.Glu934Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E934K	ENST00000337331.5	37	c.2800	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817528	0.70912	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91464	-2.85	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.206713	0.49305	D	0.000150	D	0.84224	0.5425	L	0.32530	0.975	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.83265	-0.0046	10	0.28530	T	0.3	-8.2525	20.1859	0.98214	0.0:1.0:0.0:0.0	.	934	Q7Z494	NPHP3_HUMAN	K	214;934	ENSP00000338766:E934K	ENSP00000338766:E934K	E	-	1	0	NPHP3	133890691	1.000000	0.71417	0.917000	0.36280	0.706000	0.40770	5.535000	0.67173	2.777000	0.95525	0.591000	0.81541	GAA	NPHP3	-	NULL		0.438	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	C	NM_153240		132408001	-1	no_errors	ENST00000337331	ensembl	human	known	70_37	missense	SNP	1.000	T
NPY5R	4889	genome.wustl.edu	37	4	164272516	164272516	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:164272516G>C	ENST00000515560.1	+	4	2613	c.1091G>C	c.(1090-1092)cGa>cCa	p.R364P	NPY5R_ENST00000338566.3_Missense_Mutation_p.R364P|NPY5R_ENST00000506953.1_Missense_Mutation_p.R364P			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	364					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAGAGATCTCGAAGTGTTTTC	0.363																																					Melanoma(139;1287 1774 9781 19750 25599)												0													115.0	110.0	112.0					4																	164272516		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1091G>C	4.37:g.164272516G>C	ENSP00000423917:p.Arg364Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R364P	ENST00000515560.1	37	c.1091	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424989	0.62733	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.73897	-0.79;-0.79;-0.79	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.244560	0.25686	N	0.028966	D	0.87621	0.6223	M	0.84511	2.7	0.45025	D	0.998046	D	0.89917	1.0	D	0.79108	0.992	D	0.89816	0.3985	10	0.72032	D	0.01	.	18.061	0.89377	0.0:0.0:1.0:0.0	.	364	Q15761	NPY5R_HUMAN	P	364	ENSP00000339377:R364P;ENSP00000423917:R364P;ENSP00000423474:R364P	ENSP00000339377:R364P	R	+	2	0	NPY5R	164491966	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.984000	0.70548	2.433000	0.82419	0.467000	0.42956	CGA	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt		0.363	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	G	NM_006174		164272516	+1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.974	C
NRBP1	29959	genome.wustl.edu	37	2	27663526	27663526	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27663526C>G	ENST00000233557.3	+	14	1982	c.1150C>G	c.(1150-1152)Cag>Gag	p.Q384E	NRBP1_ENST00000379852.3_Missense_Mutation_p.Q384E|NRBP1_ENST00000379863.3_Missense_Mutation_p.Q392E|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	384					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAGGTACTCTCAGTCACCAGC	0.458																																																	0													97.0	90.0	92.0					2																	27663526		2203	4300	6503	SO:0001583	missense	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1150C>G	2.37:g.27663526C>G	ENSP00000233557:p.Gln384Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q384E	ENST00000233557.3	37	c.1150	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572353	0.13623	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.37235	1.21;1.21;1.21	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.33189	0.99	0.80722	D	1	B;B;B	0.22414	0.02;0.069;0.041	B;B;B	0.20384	0.017;0.029;0.013	T	0.11567	-1.0582	10	0.06757	T	0.87	-15.1969	19.2286	0.93827	0.0:1.0:0.0:0.0	.	364;392;384	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	E	384;364;384;392	ENSP00000233557:Q384E;ENSP00000369181:Q384E;ENSP00000369192:Q392E	ENSP00000233557:Q384E	Q	+	1	0	NRBP1	27517030	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	6.985000	0.76193	2.890000	0.99128	0.655000	0.94253	CAG	NRBP1	-	NULL		0.458	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	C	NM_013392		27663526	+1	no_errors	ENST00000233557	ensembl	human	known	70_37	missense	SNP	1.000	G
NRBP2	340371	genome.wustl.edu	37	8	144922149	144922149	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:144922149G>A	ENST00000442628.2	-	3	445	c.306C>T	c.(304-306)atC>atT	p.I102I	NRBP2_ENST00000327830.5_5'UTR	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAACTTCACGATGTTCGGGT	0.647																																																	0																																										SO:0001819	synonymous_variant	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.306C>T	8.37:g.144922149G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I102	ENST00000442628.2	37	c.306	CCDS34959.2	8																																																																																			NRBP2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.647	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NRBP2	HGNC	protein_coding	OTTHUMT00000382247.1	G	NM_178564		144922149	-1	no_errors	ENST00000442628	ensembl	human	novel	70_37	silent	SNP	0.965	A
NRDE2	55051	genome.wustl.edu	37	14	90754812	90754812	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:90754812C>T	ENST00000354366.3	-	11	3139	c.2907G>A	c.(2905-2907)ctG>ctA	p.L969L	NRDE2_ENST00000357904.3_Silent_p.L738L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	969																	TGTGGAATCTCAGCAGGCTCG	0.547																																																	0													92.0	89.0	90.0					14																	90754812		2203	4300	6503	SO:0001819	synonymous_variant	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2907G>A	14.37:g.90754812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	pfam_NRDE-2	p.L969	ENST00000354366.3	37	c.2907	CCDS9890.1	14																																																																																			NRDE2	-	NULL		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90754812	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	silent	SNP	0.039	T
NRDE2	55051	genome.wustl.edu	37	14	90755022	90755022	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:90755022G>A	ENST00000354366.3	-	11	2929	c.2697C>T	c.(2695-2697)tcC>tcT	p.S899S	NRDE2_ENST00000357904.3_Silent_p.S668S	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	899																	GGCGGCTACAGGAATCGGTGG	0.488																																																	0													60.0	59.0	59.0					14																	90755022		2203	4300	6503	SO:0001819	synonymous_variant	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2697C>T	14.37:g.90755022G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	pfam_NRDE-2	p.S899	ENST00000354366.3	37	c.2697	CCDS9890.1	14																																																																																			NRDE2	-	NULL		0.488	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	G	NM_017970		90755022	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	silent	SNP	0.001	A
NRK	203447	genome.wustl.edu	37	X	105168893	105168893	+	Missense_Mutation	SNP	G	G	C	rs376619055		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:105168893G>C	ENST00000243300.9	+	19	3485	c.3182G>C	c.(3181-3183)gGa>gCa	p.G1061A	NRK_ENST00000428173.2_Missense_Mutation_p.G1062A	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1061					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGGGTGATGGAGGTAAGGGA	0.502										HNSCC(51;0.14)																																							0													141.0	130.0	134.0					X																	105168893		2071	4175	6246	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3182G>C	X.37:g.105168893G>C	ENSP00000434830:p.Gly1061Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.G1062A	ENST00000243300.9	37	c.3185		X	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048368	0.19827	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76968	-1.04;-1.06	3.89	1.13	0.20643	.	0.537084	0.15731	N	0.247437	T	0.59636	0.2208	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.18263	0.021;0.001	T	0.51044	-0.8755	10	0.62326	D	0.03	.	3.5301	0.07773	0.2464:0.2086:0.545:0.0	.	729;1061	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	A	1061;1062	ENSP00000434830:G1061A;ENSP00000438378:G1062A	ENSP00000434830:G1061A	G	+	2	0	NRK	105055549	0.020000	0.18652	0.000000	0.03702	0.005000	0.04900	0.210000	0.17455	0.098000	0.17522	-0.229000	0.12294	GGA	NRK	-	NULL		0.502	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105168893	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	missense	SNP	0.000	C
NRXN3	9369	genome.wustl.edu	37	14	79933648	79933648	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:79933648A>T	ENST00000557594.1	+	2	1285	c.332A>T	c.(331-333)gAc>gTc	p.D111V	NRXN3_ENST00000428277.2_Missense_Mutation_p.D111V|NRXN3_ENST00000554719.1_Missense_Mutation_p.D743V|NRXN3_ENST00000281127.7_Missense_Mutation_p.D111V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.D743V	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	111	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACGCGGTCTGACCGCCTTGCC	0.572																																																	0													114.0	96.0	102.0					14																	79933648		2203	4300	6503	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.332A>T	14.37:g.79933648A>T	ENSP00000451672:p.Asp111Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1105V	ENST00000557594.1	37	c.3314		14	.	.	.	.	.	.	.	.	.	.	A	30	5.052080	0.93793	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78364	-1.17;-1.17;1.09;1.09;1.09	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.998;0.999;1.0	D	0.91930	0.5554	9	.	.	.	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	111;111;111;743	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	V	1116;1105;743;743;111;111;111	ENSP00000451648:D743V;ENSP00000338349:D743V;ENSP00000451672:D111V;ENSP00000281127:D111V;ENSP00000394426:D111V	.	D	+	2	0	NRXN3	79003401	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.324000	0.96373	2.257000	0.74773	0.533000	0.62120	GAC	NRXN3	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.572	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	A	NM_001105250		79933648	+1	no_errors	ENST00000554738	ensembl	human	known	70_37	missense	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176638922	176638922	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176638922G>A	ENST00000439151.2	+	5	3567	c.3522G>A	c.(3520-3522)atG>atA	p.M1174I	NSD1_ENST00000354179.4_Missense_Mutation_p.M905I|NSD1_ENST00000347982.4_Missense_Mutation_p.M905I|NSD1_ENST00000361032.4_Missense_Mutation_p.M1071I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1174					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTAAGCGCATGAACAGATTTA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													75.0	70.0	72.0					5																	176638922		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3522G>A	5.37:g.176638922G>A	ENSP00000395929:p.Met1174Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.M1174I	ENST00000439151.2	37	c.3522	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	1.047	-0.677033	0.03378	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.91577	-2.75;-2.76;-2.75;-2.87	4.49	-3.47	0.04753	.	0.407172	0.20979	N	0.082244	T	0.66346	0.2780	N	0.02539	-0.55	0.21579	N	0.999637	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61540	-0.7042	9	.	.	.	.	1.5398	0.02553	0.1432:0.315:0.3041:0.2377	.	905;1071;1174	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	I	905;1174;905;1071	ENSP00000346111:M905I;ENSP00000395929:M1174I;ENSP00000343209:M905I;ENSP00000354310:M1071I	.	M	+	3	0	NSD1	176571528	0.001000	0.12720	0.899000	0.35326	0.874000	0.50279	-0.502000	0.06390	-0.501000	0.06605	-1.072000	0.02254	ATG	NSD1	-	NULL		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638922	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.860	A
NSD1	64324	genome.wustl.edu	37	5	176639054	176639054	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:176639054G>A	ENST00000439151.2	+	5	3699	c.3654G>A	c.(3652-3654)ctG>ctA	p.L1218L	NSD1_ENST00000354179.4_Silent_p.L949L|NSD1_ENST00000347982.4_Silent_p.L949L|NSD1_ENST00000361032.4_Silent_p.L1115L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1218					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGAACCACTGACAGAGCAAA	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													84.0	82.0	83.0					5																	176639054		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3654G>A	5.37:g.176639054G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L1218	ENST00000439151.2	37	c.3654	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.493	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176639054	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.062	A
NSUN7	79730	genome.wustl.edu	37	4	40792633	40792633	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:40792633C>A	ENST00000381782.2	+	8	1546	c.1051C>A	c.(1051-1053)Cat>Aat	p.H351N	NSUN7_ENST00000316607.5_Missense_Mutation_p.H351N	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	351							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGAAATACTTCATGAGAAATT	0.289																																																	0													48.0	52.0	51.0					4																	40792633		2202	4295	6497	SO:0001583	missense	79730			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1051C>A	4.37:g.40792633C>A	ENSP00000371201:p.His351Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.H351N	ENST00000381782.2	37	c.1051	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	C	6.756	0.508283	0.12883	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.38722	1.12;1.12	5.95	5.09	0.68999	.	1.135570	0.06175	N	0.678323	T	0.28400	0.0702	N	0.16130	0.375	0.22710	N	0.998823	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.19811	-1.0294	10	0.12103	T	0.63	-0.7612	10.9365	0.47249	0.1464:0.7125:0.1411:0.0	.	351;351	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	N	351	ENSP00000371201:H351N;ENSP00000319127:H351N	ENSP00000319127:H351N	H	+	1	0	NSUN7	40487390	0.358000	0.24947	0.890000	0.34922	0.656000	0.38851	0.889000	0.28282	1.484000	0.48361	0.650000	0.86243	CAT	NSUN7	-	NULL		0.289	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2	C	NM_024677		40792633	+1	no_errors	ENST00000381782	ensembl	human	known	70_37	missense	SNP	0.862	A
NTF3	4908	genome.wustl.edu	37	12	5603482	5603482	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:5603482C>T	ENST00000331010.6	+	1	185	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NTF3_ENST00000423158.3_Silent_p.L47L|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	34					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCAATTCCCTCATTATTAAGC	0.438																																					GBM(194;1104 2182 8339 9578 18493)												0													100.0	99.0	100.0					12																	5603482		2203	4300	6503	SO:0001819	synonymous_variant	4908				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.102C>T	12.37:g.5603482C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1T5|Q6FH50	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3	p.L34	ENST00000331010.6	37	c.102	CCDS8538.1	12																																																																																			NTF3	-	pirsf_Nerve_growth_factor-like		0.438	NTF3-002	KNOWN	basic|CCDS	protein_coding	NTF3	HGNC	protein_coding	OTTHUMT00000400486.1	C			5603482	+1	no_errors	ENST00000331010	ensembl	human	known	70_37	silent	SNP	0.997	T
NUDT7	283927	genome.wustl.edu	37	16	77756503	77756503	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:77756503G>A	ENST00000268533.5	+	1	93	c.24G>A	c.(22-24)gaG>gaA	p.E8E	NUDT7_ENST00000437314.3_Silent_p.E8E|NUDT7_ENST00000568787.1_Silent_p.E8E|NUDT7_ENST00000564085.1_Silent_p.E8E|NUDT7_ENST00000563839.1_Silent_p.E8E	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	8					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTCTTCCCGAGGAGCCAGTCA	0.657																																																	0													21.0	25.0	24.0					16																	77756503		1873	4092	5965	SO:0001819	synonymous_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.24G>A	16.37:g.77756503G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLE5|H3BUB8	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E8	ENST00000268533.5	37	c.24	CCDS42195.1	16																																																																																			NUDT7	-	NULL		0.657	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	G			77756503	+1	no_errors	ENST00000268533	ensembl	human	known	70_37	silent	SNP	0.189	A
NXF4	55999	genome.wustl.edu	37	X	101822760	101822760	+	RNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101822760C>T	ENST00000360035.2	+	0	2513					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						AAGGAGGTATCATTGTTTGTT	0.463																																																	0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101822760C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			NXF4	-	-		0.463	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	C			101822760	+1	no_errors	ENST00000360035	ensembl	human	known	70_37	rna	SNP	0.012	T
OAS2	4939	genome.wustl.edu	37	12	113448279	113448279	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:113448279G>C	ENST00000342315.4	+	11	2364	c.2150G>C	c.(2149-2151)aGa>aCa	p.R717T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	717					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AATTCTAAAAGAAACTTCTAG	0.428																																					Pancreas(199;709 2232 18410 33584 35052)												0													133.0	143.0	139.0					12																	113448279		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2150G>C	12.37:g.113448279G>C	ENSP00000342278:p.Arg717Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R717T	ENST00000342315.4	37	c.2150	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247804	0.39697	.	.	ENSG00000111335	ENST00000342315	T	0.08102	3.13	3.52	1.58	0.23477	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.33528	0.416	B	0.25506	0.061	T	0.39396	-0.9616	9	0.87932	D	0	-29.2193	4.8665	0.13611	0.1228:0.2188:0.6583:0.0	.	717	P29728	OAS2_HUMAN	T	717	ENSP00000342278:R717T	ENSP00000342278:R717T	R	+	2	0	OAS2	111932662	0.059000	0.20769	0.005000	0.12908	0.110000	0.19582	1.803000	0.38863	0.431000	0.26258	0.655000	0.94253	AGA	OAS2	-	NULL		0.428	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113448279	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.007	C
OBSCN	84033	genome.wustl.edu	37	1	228494860	228494860	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:228494860C>T	ENST00000422127.1	+	45	12229	c.12185C>T	c.(12184-12186)tCt>tTt	p.S4062F	OBSCN_ENST00000284548.11_Missense_Mutation_p.S4062F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1696F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S5019F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S1181F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4062	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAGCCTCTCTGTCCGTGGT	0.632																																																	0													51.0	65.0	60.0					1																	228494860		2185	4276	6461	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12185C>T	1.37:g.228494860C>T	ENSP00000409493:p.Ser4062Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S4062F	ENST00000422127.1	37	c.12185	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971310	0.34754	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.81	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.345964	0.24412	N	0.038741	T	0.09247	0.0228	L	0.53617	1.68	0.09310	N	1	D;D	0.71674	0.998;0.987	D;P	0.66196	0.942;0.782	T	0.21518	-1.0243	10	0.09590	T	0.72	.	2.2515	0.04044	0.2613:0.4581:0.1272:0.1534	.	4062;4062	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	4062;4062;1696;1181	ENSP00000284548:S4062F;ENSP00000409493:S4062F;ENSP00000355668:S1696F;ENSP00000355670:S1181F	ENSP00000284548:S4062F	S	+	2	0	OBSCN	226561483	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.737000	0.01843	0.308000	0.22923	0.462000	0.41574	TCT	OBSCN	-	smart_Ig_sub,pfscan_Ig-like		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228494860	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T
OR10A5	144124	genome.wustl.edu	37	11	6867763	6867763	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:6867763C>T	ENST00000299454.4	+	1	881	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	OR10A5_ENST00000379831.2_Missense_Mutation_p.P288S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	284					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTTGTGACTCCCATGTTGAA	0.433																																					Pancreas(44;21 1072 25662 28041 45559)												0													127.0	129.0	128.0					11																	6867763		2201	4296	6497	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.850C>T	11.37:g.6867763C>T	ENSP00000299454:p.Pro284Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P288S	ENST00000299454.4	37	c.862	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	16.73	3.203259	0.58234	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00330	8.08;8.08	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00695	0.0023	M	0.91972	3.26	0.43657	D	0.996074	P	0.49783	0.928	P	0.51999	0.687	T	0.66388	-0.5936	10	0.56958	D	0.05	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	284	Q9H207	O10A5_HUMAN	S	284;288	ENSP00000299454:P284S;ENSP00000369159:P288S	ENSP00000299454:P284S	P	+	1	0	OR10A5	6824339	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.563000	0.67352	2.269000	0.75478	0.591000	0.81541	CCC	OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	C	NM_178168		6867763	+1	no_errors	ENST00000379831	ensembl	human	known	70_37	missense	SNP	1.000	T
OR10A6	390093	genome.wustl.edu	37	11	7949991	7949991	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:7949991G>A	ENST00000309838.2	-	1	218	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	73						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)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAACTGCACTGAAACTCAGGT	0.428																																																	0													115.0	111.0	113.0					11																	7949991		2201	4296	6497	SO:0001819	synonymous_variant	390093			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.219C>T	11.37:g.7949991G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F73	ENST00000309838.2	37	c.219	CCDS31420.1	11																																																																																			OR10A6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	G	NM_001004461		7949991	-1	no_errors	ENST00000309838	ensembl	human	known	70_37	silent	SNP	0.005	A
OR11H12	440153	genome.wustl.edu	37	14	19377859	19377859	+	Missense_Mutation	SNP	T	T	C	rs61969156	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:19377859T>C	ENST00000550708.1	+	1	338	c.266T>C	c.(265-267)gTc>gCc	p.V89A		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGGTATGTCTCTTCTACA	0.413																																																	0													20.0	24.0	23.0					14																	19377859		1471	3234	4705	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.266T>C	14.37:g.19377859T>C	ENSP00000449002:p.Val89Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V89A	ENST00000550708.1	37	c.266	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	8.138	0.784491	0.16189	.	.	ENSG00000257115	ENST00000550708	T	0.00418	7.49	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37715	N	0.001976	T	0.00300	0.0009	L	0.47190	1.495	0.23107	N	0.998281	P	0.42409	0.779	B	0.40636	0.335	T	0.51702	-0.8672	9	0.41790	T	0.15	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	89	B2RN74	O11HC_HUMAN	A	89	ENSP00000449002:V89A	ENSP00000449002:V89A	V	+	2	0	CR383656.1	18447859	0.000000	0.05858	0.997000	0.53966	0.305000	0.27757	-0.341000	0.07811	0.518000	0.28383	0.055000	0.15244	GTC	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	T	NM_001013354		19377859	+1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.108	C
OR13C4	138804	genome.wustl.edu	37	9	107288841	107288841	+	Missense_Mutation	SNP	G	G	T	rs149719513	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:107288841G>T	ENST00000277216.3	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GAACATATAGGAGAAAAAAAT	0.413																																																	0													113.0	117.0	116.0					9																	107288841		2203	4300	6503	SO:0001583	missense	138804				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.650C>A	9.37:g.107288841G>T	ENSP00000277216:p.Ser217Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF51|Q96R41	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217Y	ENST00000277216.3	37	c.650	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956481	0.53293	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.46063	0.88	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000284	T	0.74733	0.3755	H	0.98612	4.28	0.34228	D	0.676182	D	0.71674	0.998	D	0.74023	0.982	D	0.85457	0.1164	10	0.87932	D	0	.	10.2467	0.43345	0.1015:0.0:0.8985:0.0	.	217	Q8NGS5	O13C4_HUMAN	Y	217;246	ENSP00000277216:S217Y	ENSP00000277216:S217Y	S	-	2	0	OR13C4	106328662	1.000000	0.71417	0.908000	0.35775	0.666000	0.39218	7.672000	0.83956	1.018000	0.39521	0.585000	0.79938	TCC	OR13C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	G			107288841	-1	no_errors	ENST00000277216	ensembl	human	known	70_37	missense	SNP	1.000	T
OR2G2	81470	genome.wustl.edu	37	1	247752384	247752384	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:247752384C>T	ENST00000320065.1	+	1	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAGCATTCGGGACCTGCT	0.502																																																	0													143.0	129.0	134.0					1																	247752384		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.723C>T	1.37:g.247752384C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F241	ENST00000320065.1	37	c.723	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752384	+1	no_errors	ENST00000320065	ensembl	human	known	70_37	silent	SNP	0.000	T
OR2L8	391190	genome.wustl.edu	37	1	248112345	248112345	+	Silent	SNP	G	G	C	rs567135028		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248112345G>C	ENST00000357191.3	+	1	186	c.186G>C	c.(184-186)ctG>ctC	p.L62L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATTTCCTACTGAGTCAGCTCT	0.423																																																	0													383.0	334.0	351.0					1																	248112345		2203	4300	6503	SO:0001819	synonymous_variant	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.186G>C	1.37:g.248112345G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L62	ENST00000357191.3	37	c.186	CCDS31101.1	1																																																																																			OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	G			248112345	+1	no_errors	ENST00000357191	ensembl	human	known	70_37	silent	SNP	0.000	C
OR2AK2	391191	genome.wustl.edu	37	1	248129394	248129394	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248129394C>G	ENST00000366480.3	+	1	860	c.761C>G	c.(760-762)tCc>tGc	p.S254C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AAAGCTGTTTCCACTTGTTCC	0.488																																					Melanoma(45;390 1181 23848 28461 41504)												0													179.0	143.0	155.0					1																	248129394		2203	4300	6503	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.761C>G	1.37:g.248129394C>G	ENSP00000355436:p.Ser254Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S254C	ENST00000366480.3	37	c.761	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	9.868	1.198279	0.22037	.	.	ENSG00000187080	ENST00000366480	T	0.00314	8.14	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	H	0.97365	3.99	0.09310	N	1	P	0.36010	0.532	B	0.42692	0.395	T	0.10337	-1.0634	9	0.87932	D	0	.	7.9267	0.29878	0.0:0.7817:0.0:0.2183	.	254	Q8NG84	O2AK2_HUMAN	C	254	ENSP00000355436:S254C	ENSP00000355436:S254C	S	+	2	0	OR2AK2	246196017	0.001000	0.12720	0.001000	0.08648	0.191000	0.23601	0.453000	0.21811	0.588000	0.29660	0.462000	0.41574	TCC	OR2AK2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	C	NM_001004491		248129394	+1	no_errors	ENST00000366480	ensembl	human	known	70_37	missense	SNP	0.091	G
OR2M5	127059	genome.wustl.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		21867	0.0		0.001	False		,,,				2504	0.0																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259.0	244.0	249.0		701	1.3	0.0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R234H	ENST00000366476.1	37	c.701	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT	OR2M5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	G	NM_001004690		248309150	+1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.001	A
OSCP1	127700	genome.wustl.edu	37	1	36889072	36889072	+	Intron	DEL	A	A	-	rs542522628	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:36889072delA	ENST00000356637.5	-	6	610				OSCP1_ENST00000433045.2_Intron|OSCP1_ENST00000235532.5_Intron|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1						transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GGATACCTGGAAAAAAATACA	0.403													?|AAAAAAA|AAAAAA|unsure	10	0.00199681	0.0053	0.0	5008	,	,		20219	0.0		0.003	False		,,,				2504	0.0																0										20,4246		0,20,2113	50.0	54.0	53.0			1.9	0.3	1		54	16,8238		0,16,4111	no	intron	OSCP1	NM_145047.4		0,36,6224	A1A1,A1R,RR		0.1938,0.4688,0.2875			36889072	36,12484	2203	4300	6503	SO:0001627	intron_variant	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.547-5T>-	1.37:g.36889072delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	RNA	DEL	-	NULL	ENST00000356637.5	37	NULL		1																																																																																			OSCP1	-	-		0.403	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	A	NM_145047		36889072	-1	no_errors	ENST00000495222	ensembl	human	known	70_37	rna	DEL	0.273	-
ORC1	4998	genome.wustl.edu	37	1	52850273	52850273	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:52850273G>C	ENST00000371568.3	-	11	1922	c.1704C>G	c.(1702-1704)gtC>gtG	p.V568V	ORC1_ENST00000371566.1_Silent_p.V568V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	568	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATGCCATTGACCTCAATGT	0.498																																																	0													136.0	112.0	120.0					1																	52850273		2203	4300	6503	SO:0001819	synonymous_variant	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1704C>G	1.37:g.52850273G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ34|Q13471|Q5T0F5	Silent	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.V568	ENST00000371568.3	37	c.1704	CCDS566.1	1																																																																																			ORC1	-	pfam_ATPase_AAA_core,pfam_DUF2075,smart_AAA+_ATPase		0.498	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	G	NM_004153		52850273	-1	no_errors	ENST00000371566	ensembl	human	known	70_37	silent	SNP	1.000	C
OR2T1	26696	genome.wustl.edu	37	1	248569550	248569550	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:248569550C>T	ENST00000366474.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATCATCTTCTTCACCGCAC	0.448																																																	0													160.0	146.0	150.0					1																	248569550		2203	4300	6503	SO:0001819	synonymous_variant	26696			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.255C>T	1.37:g.248569550C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEZ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F85	ENST00000366474.1	37	c.255	CCDS31115.1	1																																																																																			OR2T1	-	prints_GPCR_Rhodpsn		0.448	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	HGNC	protein_coding	OTTHUMT00000097346.2	C			248569550	+1	no_errors	ENST00000366474	ensembl	human	known	70_37	silent	SNP	0.090	T
OSR2	116039	genome.wustl.edu	37	8	99962942	99962942	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:99962942C>A	ENST00000297565.4	+	3	1211	c.715C>A	c.(715-717)Cag>Aag	p.Q239K	OSR2_ENST00000435298.2_Missense_Mutation_p.Q239K|OSR2_ENST00000457907.2_Missense_Mutation_p.Q360K|OSR2_ENST00000523368.1_Missense_Mutation_p.Q239K|OSR2_ENST00000522510.1_Missense_Mutation_p.Q239K	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	239					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AGGATTTTGTCAGTCTAGAAC	0.363																																																	0													79.0	77.0	77.0					8																	99962942		1858	4092	5950	SO:0001583	missense	116039			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.715C>A	8.37:g.99962942C>A	ENSP00000297565:p.Gln239Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q360K	ENST00000297565.4	37	c.1078	CCDS47901.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221346	0.79464	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907	T;T;T;T;T	0.51574	3.23;3.23;0.7;3.23;3.23	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	N	0.16862	0.45	0.80722	D	1	D;D;P;P	0.63880	0.972;0.993;0.781;0.944	P;P;B;P	0.62382	0.694;0.901;0.342;0.854	T	0.46470	-0.9189	9	.	.	.	-17.8984	19.3429	0.94350	0.0:1.0:0.0:0.0	.	360;239;239;239	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	K	239;239;239;239;360	ENSP00000430041:Q239K;ENSP00000297565:Q239K;ENSP00000402862:Q239K;ENSP00000430780:Q239K;ENSP00000414657:Q360K	.	Q	+	1	0	OSR2	100032118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.795000	0.96236	0.655000	0.94253	CAG	OSR2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	C	NM_053001		99962942	+1	no_errors	ENST00000457907	ensembl	human	known	70_37	missense	SNP	1.000	A
P2RX2	22953	genome.wustl.edu	37	12	133197112	133197112	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:133197112C>G	ENST00000389110.3	+	7	754	c.717C>G	c.(715-717)ttC>ttG	p.F239L	P2RX2_ENST00000351222.4_Missense_Mutation_p.F147L|P2RX2_ENST00000348800.5_Missense_Mutation_p.F239L|P2RX2_ENST00000449132.2_Missense_Mutation_p.Q204E|P2RX2_ENST00000350048.5_Missense_Mutation_p.F215L|P2RX2_ENST00000352418.4_Missense_Mutation_p.F167L|P2RX2_ENST00000343948.4_Missense_Mutation_p.F239L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	239					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCCCCATCTTCAAGCTGGGCT	0.657																																																	0													71.0	66.0	68.0					12																	133197112		2203	4300	6503	SO:0001583	missense	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.717C>G	12.37:g.133197112C>G	ENSP00000373762:p.Phe239Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F239L	ENST00000389110.3	37	c.717	CCDS31931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.831376|4.831376	0.91036|0.91036	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800|ENST00000449132	T;T;T;T;T;T|T	0.08896|0.09538	3.04;3.04;3.04;3.04;3.04;3.04|2.97	5.58|5.58	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.16342|0.16342	0.0393|0.0393	M|M	0.69523|0.69523	2.12|2.12	0.54753|0.54753	D|D	0.999989|0.999989	P;D;D;P;P;P;P|B	0.89917|0.10296	0.858;0.977;1.0;0.523;0.846;0.858;0.628|0.003	P;P;D;B;P;P;B|B	0.85130|0.04013	0.468;0.622;0.997;0.134;0.487;0.468;0.225|0.001	T|T	0.02736|0.02736	-1.1117|-1.1117	10|9	0.59425|0.87932	D|D	0.04|0	-35.5765|-35.5765	15.0561|15.0561	0.71915|0.71915	0.0:0.9189:0.0:0.0811|0.0:0.9189:0.0:0.0811	.|.	239;147;167;215;239;239;239|204	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|Q9UBL9-7	.;.;.;.;.;P2RX2_HUMAN;.|.	L|E	239;239;167;215;147;239|204	ENSP00000373762:F239L;ENSP00000343339:F239L;ENSP00000341419:F167L;ENSP00000343904:F215L;ENSP00000344502:F147L;ENSP00000345095:F239L|ENSP00000405531:Q204E	ENSP00000343339:F239L|ENSP00000405531:Q204E	F|Q	+|+	3|1	2|0	P2RX2|P2RX2	131707185|131707185	0.027000|0.027000	0.19231|0.19231	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	0.389000|0.389000	0.20751|0.20751	2.637000|2.637000	0.89404|0.89404	0.555000|0.555000	0.69702|0.69702	TTC|CAA	P2RX2	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.657	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	C			133197112	+1	no_errors	ENST00000343948	ensembl	human	known	70_37	missense	SNP	1.000	G
PABPC5	140886	genome.wustl.edu	37	X	90690906	90690906	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:90690906C>G	ENST00000312600.3	+	2	544	c.330C>G	c.(328-330)atC>atG	p.I110M	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATATATTCATCAAAAACCTGG	0.408																																																	0													68.0	64.0	66.0					X																	90690906		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.330C>G	X.37:g.90690906C>G	ENSP00000308012:p.Ile110Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.I110M	ENST00000312600.3	37	c.330	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744698	0.49151	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.21361	2.01	4.43	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.096951	0.64402	D	0.000002	T	0.44787	0.1310	M	0.80616	2.505	0.52501	D	0.999952	D	0.64830	0.994	D	0.75020	0.985	T	0.45381	-0.9265	10	0.87932	D	0	.	9.7427	0.40429	0.0:0.8954:0.0:0.1046	.	110	Q96DU9	PABP5_HUMAN	M	110;78	ENSP00000308012:I110M	ENSP00000308012:I110M	I	+	3	3	PABPC5	90577562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.042000	0.30303	1.213000	0.43380	0.600000	0.82982	ATC	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.408	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90690906	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	1.000	G
PAK7	57144	genome.wustl.edu	37	20	9561029	9561029	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:9561029C>T	ENST00000378429.3	-	5	1299	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PAK7_ENST00000353224.5_Silent_p.A251A|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Silent_p.A251A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	251	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCACTGTACGCCAGGCTCT	0.542																																																	0													83.0	79.0	80.0					20																	9561029		2203	4300	6503	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.753G>A	20.37:g.9561029C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.A251	ENST00000378429.3	37	c.753	CCDS13107.1	20																																																																																			PAK7	-	NULL		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	C			9561029	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	silent	SNP	0.003	T
PALM	5064	genome.wustl.edu	37	19	727627	727627	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:727627G>A	ENST00000338448.5	+	4	248	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PALM_ENST00000264560.7_Missense_Mutation_p.E68K	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	68					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		AGAGGGGGATGAGGACCTGAG	0.687																																																	0													41.0	40.0	41.0					19																	727627		2182	4286	6468	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.202G>A	19.37:g.727627G>A	ENSP00000341911:p.Glu68Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.E68K	ENST00000338448.5	37	c.202	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042957	0.55003	.	.	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.38077	1.4;1.16	3.64	1.31	0.21738	.	0.182527	0.46758	N	0.000264	T	0.34600	0.0903	M	0.80616	2.505	0.37413	D	0.913316	P;B;B	0.38535	0.635;0.206;0.13	B;B;B	0.34873	0.108;0.191;0.093	T	0.32455	-0.9906	10	0.87932	D	0	-19.5477	6.465	0.21977	0.102:0.0:0.7187:0.1793	.	68;68;68	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	K	68	ENSP00000341911:E68K;ENSP00000264560:E68K	ENSP00000264560:E68K	E	+	1	0	PALM	678627	1.000000	0.71417	0.152000	0.22495	0.956000	0.61745	4.120000	0.57897	0.131000	0.18576	0.491000	0.48974	GAG	PALM	-	NULL		0.687	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	G	NM_002579		727627	+1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.986	A
PAMR1	25891	genome.wustl.edu	37	11	35454134	35454134	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:35454134C>T	ENST00000378880.2	-	11	2378	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	PAMR1_ENST00000278360.3_Missense_Mutation_p.D662N|PAMR1_ENST00000532848.1_Missense_Mutation_p.D605N|PAMR1_ENST00000378878.3_Missense_Mutation_p.D534N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	645	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AACATGTTATCAGTGACACTC	0.582																																																	0													87.0	72.0	77.0					11																	35454134		2202	4298	6500	SO:0001583	missense	25891				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1933G>A	11.37:g.35454134C>T	ENSP00000368158:p.Asp645Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D662N	ENST00000378880.2	37	c.1984	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011899	0.93346	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.045577	0.85682	D	0.000000	D	0.95290	0.8472	L	0.55213	1.73	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.996	P;P;P	0.60609	0.877;0.862;0.866	D	0.95706	0.8753	10	0.87932	D	0	.	18.8876	0.92385	0.0:1.0:0.0:0.0	.	534;645;662	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	N	662;645;534;605;622	ENSP00000278360:D662N;ENSP00000368158:D645N;ENSP00000368156:D534N;ENSP00000433868:D605N;ENSP00000432591:D622N	ENSP00000278360:D662N	D	-	1	0	PAMR1	35410710	1.000000	0.71417	0.953000	0.39169	0.892000	0.51952	7.581000	0.82535	2.540000	0.85666	0.561000	0.74099	GAT	PAMR1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.582	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	C	NM_015430		35454134	-1	no_errors	ENST00000278360	ensembl	human	known	70_37	missense	SNP	1.000	T
PARK7	11315	genome.wustl.edu	37	1	8030977	8030977	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:8030977G>A	ENST00000493678.1	+	5	343	c.276G>A	c.(274-276)ctG>ctA	p.L92L	PARK7_ENST00000377493.5_Silent_p.L72L|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000338639.5_Silent_p.L92L|PARK7_ENST00000377488.1_Silent_p.L92L|PARK7_ENST00000377491.1_Silent_p.L92L			Q99497	PARK7_HUMAN	parkinson protein 7	92					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGATACTGAAGGAGCAGG	0.488																																																	0													122.0	117.0	119.0					1																	8030977		2203	4300	6503	SO:0001819	synonymous_variant	11315			D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.276G>A	1.37:g.8030977G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4Z1|O14805|Q6DR95|Q7LFU2	Silent	SNP	pfam_ThiJ/PfpI,tigrfam_DJ1	p.L92	ENST00000493678.1	37	c.276	CCDS93.1	1																																																																																			PARK7	-	pfam_ThiJ/PfpI,tigrfam_DJ1		0.488	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK7	HGNC	protein_coding	OTTHUMT00000003577.1	G	NM_007262		8030977	+1	no_errors	ENST00000338639	ensembl	human	known	70_37	silent	SNP	1.000	A
PARP9	83666	genome.wustl.edu	37	3	122269447	122269447	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:122269447T>A	ENST00000360356.2	-	6	1642	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	PARP9_ENST00000492382.1_Splice_Site_p.D17V|PARP9_ENST00000462315.1_Missense_Mutation_p.D437V|PARP9_ENST00000471785.1_Missense_Mutation_p.D437V|PARP9_ENST00000477522.2_Missense_Mutation_p.D437V	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	472	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TATCTCCAAATCTGTTGGAAA	0.313																																																	0													68.0	67.0	67.0					3																	122269447		2203	4299	6502	SO:0001583	missense	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1415A>T	3.37:g.122269447T>A	ENSP00000353512:p.Asp472Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D472V	ENST00000360356.2	37	c.1415	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288260	0.59976	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.26518	1.73;2.65;1.73;1.73;1.73	4.26	4.26	0.50523	Appr-1-p processing (1);	0.731716	0.12709	N	0.445657	T	0.53045	0.1772	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.69078	0.995;0.981;0.996;0.997	P;P;D;D	0.65140	0.813;0.77;0.925;0.932	T	0.56878	-0.7906	10	0.66056	D	0.02	.	12.636	0.56683	0.0:0.0:0.0:1.0	.	437;472;17;437	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	V	472;17;437;437;395;437	ENSP00000353512:D472V;ENSP00000417664:D17V;ENSP00000419506:D437V;ENSP00000419001:D437V;ENSP00000418894:D437V	ENSP00000353512:D472V	D	-	2	0	PARP9	123752137	1.000000	0.71417	0.014000	0.15608	0.001000	0.01503	6.554000	0.73923	1.936000	0.56123	0.533000	0.62120	GAT	PARP9	-	pfscan_A1pp		0.313	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	T	NM_031458		122269447	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	missense	SNP	0.949	A
PBX2P1	5088	genome.wustl.edu	37	3	142895468	142895468	+	RNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:142895468C>T	ENST00000560287.1	+	0	342									pre-B-cell leukemia homeobox 2 pseudogene 1																		AAACCGGCCTCAGCATTCGGA	0.602																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.602	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	C	NG_002434		142895468	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	SNP	0.988	T
PBX2P1	5088	genome.wustl.edu	37	3	142896496	142896496	+	RNA	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:142896496C>T	ENST00000560287.1	+	0	1370									pre-B-cell leukemia homeobox 2 pseudogene 1																		TGGGGGCTCTCACAAGGCGAC	0.577																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142896496C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.577	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	C	NG_002434		142896496	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	SNP	0.882	T
PCDH17	27253	genome.wustl.edu	37	13	58207445	58207445	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:58207445C>T	ENST00000377918.3	+	1	791	c.765C>T	c.(763-765)aaC>aaT	p.N255N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	255	Cadherin 3. {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)		TGCCCGAGAACGCTCCGCTGG	0.577																																					Melanoma(72;952 1291 1619 12849 33676)												0													75.0	64.0	68.0					13																	58207445		2203	4300	6503	SO:0001819	synonymous_variant	27253			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.765C>T	13.37:g.58207445C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N255	ENST00000377918.3	37	c.765	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58207445	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDH20	64881	genome.wustl.edu	37	13	61988033	61988033	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:61988033C>T	ENST00000409186.1	-	5	2304	c.199G>A	c.(199-201)Gag>Aag	p.E67K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E67K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	67	Cadherin 1. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TACAGAAGCTCGGTGGCCCGG	0.622																																																	0													18.0	19.0	18.0					13																	61988033		2200	4297	6497	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.199G>A	13.37:g.61988033C>T	ENSP00000386653:p.Glu67Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E67K	ENST00000409186.1	37	c.199	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	C	35	5.573001	0.96553	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.57273	0.41;0.41	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000012	T	0.62780	0.2456	L	0.49126	1.545	0.58432	D	0.999998	D	0.71674	0.998	P	0.55222	0.771	T	0.63233	-0.6683	10	0.48119	T	0.1	.	18.9313	0.92566	0.0:1.0:0.0:0.0	.	67	A8K1K9	.	K	67	ENSP00000387250:E67K;ENSP00000386653:E67K	ENSP00000386653:E67K	E	-	1	0	PCDH20	60886034	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.913000	0.75759	2.471000	0.83476	0.591000	0.81541	GAG	PCDH20	-	pfscan_Cadherin		0.622	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61988033	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA5	56143	genome.wustl.edu	37	5	140203223	140203223	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140203223C>G	ENST00000529859.1	+	1	1863	c.1863C>G	c.(1861-1863)ttC>ttG	p.F621L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.F621L|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.F621L|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.637																																																	0													76.0	79.0	78.0					5																	140203223		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1863C>G	5.37:g.140203223C>G	ENSP00000436557:p.Phe621Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F621L	ENST00000529859.1	37	c.1863	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564026	0.45694	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.70749	-0.51;-0.51;-0.51	3.76	0.908	0.19326	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82213	0.4988	M	0.92169	3.28	0.26128	N	0.980459	D;P;P	0.61080	0.989;0.902;0.902	P;P;B	0.59546	0.859;0.523;0.444	T	0.70952	-0.4732	9	0.87932	D	0	.	4.5985	0.12341	0.0:0.496:0.152:0.352	.	621;621;621	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	621	ENSP00000433416:F621L;ENSP00000436557:F621L;ENSP00000367366:F621L	ENSP00000367366:F621L	F	+	3	2	PCDHA5	140183407	0.866000	0.29940	0.991000	0.47740	0.751000	0.42716	1.495000	0.35627	-0.052000	0.13311	0.306000	0.20318	TTC	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	C	NM_018908		140203223	+1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.994	G
PCDHA10	56139	genome.wustl.edu	37	5	140237744	140237744	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140237744C>T	ENST00000307360.5	+	1	2111	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTGTCCAGC	0.687																																																	0													31.0	25.0	27.0					5																	140237744		1322	2291	3613	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2111C>T	5.37:g.140237744C>T	ENSP00000304234:p.Ala704Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A704V	ENST00000307360.5	37	c.2111	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833251	0.32421	.	.	ENSG00000250120	ENST00000307360	T	0.17370	2.28	3.66	3.66	0.41972	.	.	.	.	.	T	0.33235	0.0856	M	0.93197	3.39	0.21473	N	0.999678	B;B	0.32188	0.351;0.359	B;B	0.34991	0.193;0.082	T	0.26121	-1.0112	9	0.38643	T	0.18	.	12.6522	0.56768	0.1654:0.8346:0.0:0.0	.	704;704	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	704	ENSP00000304234:A704V	ENSP00000304234:A704V	A	+	2	0	PCDHA10	140217928	0.609000	0.26975	0.998000	0.56505	0.187000	0.23431	1.765000	0.38481	2.025000	0.59659	0.491000	0.48974	GCG	PCDHA10	-	NULL		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140237744	+1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	0.914	T
PCDHB15	56121	genome.wustl.edu	37	5	140625174	140625174	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140625174G>A	ENST00000231173.3	+	1	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	10					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(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTTCCCGAACAAAGGCA	0.542																																																	0													58.0	64.0	62.0					5																	140625174		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.28G>A	5.37:g.140625174G>A	ENSP00000231173:p.Glu10Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E10K	ENST00000231173.3	37	c.28	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005010	0.35415	.	.	ENSG00000113248	ENST00000231173	T	0.48522	0.81	3.96	-6.92	0.01644	.	.	.	.	.	T	0.14743	0.0356	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30357	-0.9981	9	0.29301	T	0.29	.	7.9183	0.29831	0.1863:0.5131:0.3006:0.0	.	10	Q9Y5E8	PCDBF_HUMAN	K	10	ENSP00000231173:E10K	ENSP00000231173:E10K	E	+	1	0	PCDHB15	140605358	0.003000	0.15002	0.068000	0.19968	0.571000	0.35966	0.032000	0.13732	-1.396000	0.02071	-0.339000	0.08088	GAA	PCDHB15	-	NULL		0.542	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140625174	+1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	0.005	A
PCDHGA7	56108	genome.wustl.edu	37	5	140764536	140764536	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140764536G>A	ENST00000518325.1	+	1	2070	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	690					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACCTCACGTTGTACCTGG	0.637																																																	0													65.0	71.0	69.0					5																	140764536		2203	4300	6503	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2070G>A	5.37:g.140764536G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN87|Q9Y5D0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T690	ENST00000518325.1	37	c.2070	CCDS54927.1	5																																																																																			PCDHGA7	-	NULL		0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	G	NM_018920		140764536	+1	no_errors	ENST00000518325	ensembl	human	known	70_37	silent	SNP	0.000	A
PCDHGB6	56100	genome.wustl.edu	37	5	140789474	140789474	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:140789474C>G	ENST00000520790.1	+	1	1705	c.1705C>G	c.(1705-1707)Cct>Gct	p.P569A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	569					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)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGGTCCTGACGGCTC	0.652																																																	0													27.0	36.0	33.0					5																	140789474		2133	4252	6385	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1705C>G	5.37:g.140789474C>G	ENSP00000428603:p.Pro569Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P569A	ENST00000520790.1	37	c.1705	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.683128	0.00745	.	.	ENSG00000253305	ENST00000520790	T	0.50001	0.76	5.36	4.49	0.54785	Cadherin-like (1);	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B;B	0.31859	0.343;0.089	B;B	0.33620	0.167;0.162	T	0.17837	-1.0356	9	0.11485	T	0.65	.	5.6936	0.17843	0.1399:0.6476:0.1358:0.0767	.	569;569	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	A	569	ENSP00000428603:P569A	ENSP00000428603:P569A	P	+	1	0	PCDHGB6	140769658	0.000000	0.05858	0.527000	0.27925	0.025000	0.11179	-0.296000	0.08287	2.517000	0.84864	0.462000	0.41574	CCT	PCDHGB6	-	superfamily_Cadherin-like		0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	C	NM_018926		140789474	+1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	0.011	G
PCNXL3	399909	genome.wustl.edu	37	11	65390978	65390978	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:65390978G>A	ENST00000355703.3	+	12	2913	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	792						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGAGTGCTGGAGAACATCTT	0.612																																																	0													55.0	61.0	59.0					11																	65390978		2098	4205	6303	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2374G>A	11.37:g.65390978G>A	ENSP00000347931:p.Glu792Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.E792K	ENST00000355703.3	37	c.2374	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949550	0.53186	.	.	ENSG00000197136	ENST00000355703	T	0.77358	-1.09	4.31	4.31	0.51392	.	.	.	.	.	T	0.77598	0.4154	M	0.78344	2.41	0.49582	D	0.999801	B	0.25521	0.128	B	0.19666	0.026	T	0.78518	-0.2173	9	0.59425	D	0.04	.	14.2853	0.66243	0.0:0.0:1.0:0.0	.	792	Q9H6A9	PCX3_HUMAN	K	792	ENSP00000347931:E792K	ENSP00000347931:E792K	E	+	1	0	PCNXL3	65147554	1.000000	0.71417	0.998000	0.56505	0.292000	0.27327	9.277000	0.95755	1.951000	0.56629	0.407000	0.27541	GAG	PCNXL3	-	NULL		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	G	NM_032223		65390978	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	1.000	A
PCSK7	9159	genome.wustl.edu	37	11	117089862	117089862	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:117089862C>G	ENST00000320934.3	-	11	1972	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	PCSK7_ENST00000540028.1_Missense_Mutation_p.E89Q	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	448	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGACCCACTCTGCACGGCGA	0.562			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													63.0	52.0	56.0					11																	117089862		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1342G>C	11.37:g.117089862C>G	ENSP00000325917:p.Glu448Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E448Q	ENST00000320934.3	37	c.1342	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112377	0.56398	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.81163	-1.46;-1.46	5.2	4.29	0.51040	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.343507	0.28225	N	0.016140	T	0.70245	0.3202	L	0.36672	1.1	0.23636	N	0.997233	B	0.25904	0.137	B	0.23275	0.045	T	0.64732	-0.6338	10	0.72032	D	0.01	-13.3643	9.2451	0.37520	0.0:0.8452:0.0:0.1548	.	448	Q16549	PCSK7_HUMAN	Q	448;89;448	ENSP00000325917:E448Q;ENSP00000441944:E89Q	ENSP00000325917:E448Q	E	-	1	0	PCSK7	116595072	0.085000	0.21516	0.877000	0.34402	0.864000	0.49448	2.245000	0.43133	2.442000	0.82660	0.591000	0.81541	GAG	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.562	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	C	NM_004716		117089862	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	0.995	G
PDE1A	5136	genome.wustl.edu	37	2	183105003	183105003	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:183105003C>G	ENST00000410103.1	-	4	315	c.232G>C	c.(232-234)Gaa>Caa	p.E78Q	PDE1A_ENST00000331935.6_Missense_Mutation_p.E78Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E62Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.E78Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.E44Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E62Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E78Q|PDE1A_ENST00000435564.1_Missense_Mutation_p.E78Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	78					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGCTCATCTTCAGTATCCAGA	0.358																																																	0													70.0	68.0	69.0					2																	183105003		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.232G>C	2.37:g.183105003C>G	ENSP00000387037:p.Glu78Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E78Q	ENST00000410103.1	37	c.232	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022659	0.75275	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.77;-0.85;-0.85;-0.82;-0.83;-0.83;-0.84	5.26	5.26	0.73747	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.269445	0.41605	D	0.000850	D	0.86310	0.5902	M	0.77103	2.36	0.80722	D	1	D;P;D;P	0.62365	0.991;0.931;0.958;0.915	D;D;P;D	0.68943	0.92;0.961;0.905;0.935	D	0.87774	0.2607	10	0.87932	D	0	.	18.208	0.89860	0.0:1.0:0.0:0.0	.	44;78;62;78	P54750-3;P54750;P54750-2;P54750-4	.;PDE1A_HUMAN;.;.	Q	78;44;62;78;62;78;78;78	ENSP00000410309:E78Q;ENSP00000329112:E44Q;ENSP00000386767:E62Q;ENSP00000331574:E78Q;ENSP00000309269:E62Q;ENSP00000387037:E78Q;ENSP00000350858:E78Q;ENSP00000408874:E78Q	ENSP00000331574:E78Q	E	-	1	0	PDE1A	182813248	1.000000	0.71417	0.077000	0.20336	0.703000	0.40648	7.776000	0.85560	2.631000	0.89168	0.655000	0.94253	GAA	PDE1A	-	pfam_PDEase_N		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183105003	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	0.997	G
PDE4A	5141	genome.wustl.edu	37	19	10557036	10557036	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10557036G>A	ENST00000352831.6	+	2	573	c.463G>A	c.(463-465)Gac>Aac	p.D155N	PDE4A_ENST00000380702.2_Missense_Mutation_p.D133N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D94N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D129N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D133N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	155					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CAGCGACTATGACATGTCACC	0.667																																																	0													78.0	54.0	61.0					19																	10557036		1568	3582	5150	SO:0001583	missense	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.463G>A	19.37:g.10557036G>A	ENSP00000270474:p.Asp155Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D155N	ENST00000352831.6	37	c.463	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037155	0.75617	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.70516	-0.48;-0.48;-0.49;-0.46	4.11	4.11	0.48088	.	.	.	.	.	T	0.70386	0.3218	L	0.58510	1.815	0.50313	D	0.999861	B;P;B	0.44877	0.328;0.845;0.373	B;P;B	0.44860	0.124;0.462;0.273	T	0.74788	-0.3546	9	0.56958	D	0.05	.	13.9102	0.63862	0.0:0.0:1.0:0.0	.	94;129;155	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	N	133;155;129;94	ENSP00000370078:D133N;ENSP00000270474:D155N;ENSP00000293683:D129N;ENSP00000394754:D94N	ENSP00000293683:D129N	D	+	1	0	PDE4A	10418036	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.444000	0.97578	2.120000	0.65058	0.555000	0.69702	GAC	PDE4A	-	NULL		0.667	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	G			10557036	+1	no_errors	ENST00000352831	ensembl	human	known	70_37	missense	SNP	1.000	A
PEAK1	79834	genome.wustl.edu	37	15	77426003	77426003	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:77426003C>G	ENST00000560626.2	-	6	3896	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1141H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1141					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTTCTTGGTCTGTTTTCCCT	0.517																																																	0													104.0	98.0	100.0					15																	77426003		1980	4147	6127	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3421G>C	15.37:g.77426003C>G	ENSP00000452796:p.Asp1141His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.D1141H	ENST00000560626.2	37	c.3421	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840558	0.16891	.	.	ENSG00000173517	ENST00000312493	T	0.71103	-0.54	5.58	4.67	0.58626	.	0.350887	0.30210	N	0.010154	T	0.54870	0.1885	N	0.24115	0.695	0.41171	D	0.986167	B	0.21381	0.055	B	0.15052	0.012	T	0.53208	-0.8471	10	0.46703	T	0.11	-10.4508	9.9248	0.41485	0.0:0.7886:0.1387:0.0727	.	1141	Q9H792	PEAK1_HUMAN	H	1141	ENSP00000309230:D1141H	ENSP00000309230:D1141H	D	-	1	0	AC087465.1	75213058	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.373000	0.59537	1.375000	0.46248	0.561000	0.74099	GAC	PEAK1	-	NULL		0.517	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77426003	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	0.994	G
PIBF1	10464	genome.wustl.edu	37	13	73539531	73539531	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:73539531G>A	ENST00000326291.6	+	15	2291	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	651						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACAACTTGAGAAAGATGTCA	0.353																																																	0													55.0	51.0	52.0					13																	73539531		2203	4300	6503	SO:0001819	synonymous_variant	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1953G>A	13.37:g.73539531G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	superfamily_t-SNARE	p.E651	ENST00000326291.6	37	c.1953	CCDS31991.1	13																																																																																			PIBF1	-	superfamily_t-SNARE		0.353	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73539531	+1	no_errors	ENST00000326291	ensembl	human	known	70_37	silent	SNP	1.000	A
PIGA	5277	genome.wustl.edu	37	X	15349598	15349598	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:15349598G>A	ENST00000333590.4	-	2	539	c.455C>T	c.(454-456)aCg>aTg	p.T152M	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	152					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GGAATGGTCCGTGAAGACTGT	0.458																																																	0													87.0	69.0	75.0					X																	15349598		2203	4300	6503	SO:0001583	missense	5277			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.455C>T	X.37:g.15349598G>A	ENSP00000369820:p.Thr152Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.T152M	ENST00000333590.4	37	c.455	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180879	0.78677	.	.	ENSG00000165195	ENST00000333590	T	0.81163	-1.46	5.88	5.88	0.94601	PIGA, GPI anchor biosynthesis (1);	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93517	0.6858	10	0.87932	D	0	-8.937	18.0155	0.89239	0.0:0.0:1.0:0.0	.	152	P37287	PIGA_HUMAN	M	152	ENSP00000369820:T152M	ENSP00000369820:T152M	T	-	2	0	PIGA	15259519	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.434000	0.97515	2.476000	0.83614	0.544000	0.68410	ACG	PIGA	-	pfam_PIGA_GPI_anchor_biosynthesis		0.458	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	G	NM_002641		15349598	-1	no_errors	ENST00000333590	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3R6	146850	genome.wustl.edu	37	17	8736353	8736353	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:8736353G>C	ENST00000311434.9	-	9	894	c.655C>G	c.(655-657)Cgc>Ggc	p.R219G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	219					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										AGGGTGCGGCGAGGGCTGGCC	0.701																																																	0													12.0	16.0	14.0					17																	8736353		1971	4126	6097	SO:0001583	missense	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.655C>G	17.37:g.8736353G>C	ENSP00000475670:p.Arg219Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658R3	RNA	SNP	-	NULL	ENST00000311434.9	37	NULL		17																																																																																			PIK3R6	-	-		0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		G	NM_001010855		8736353	-1	no_errors	ENST00000311434	ensembl	human	known	70_37	rna	SNP	0.786	C
PIP4K2A	5305	genome.wustl.edu	37	10	22825873	22825873	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:22825873C>T	ENST00000376573.4	-	0	1706				PIP4K2A_ENST00000323883.7_3'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha						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						AATGcacacgcgcgcacacac	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	5305			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.*257G>A	10.37:g.22825873C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	RNA	SNP	-	NULL	ENST00000376573.4	37	NULL	CCDS7141.1	10																																																																																			PIP4K2A	-	-		0.438	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1	C	NM_005028		22825873	-1	no_errors	ENST00000474335	ensembl	human	known	70_37	rna	SNP	0.000	T
PITHD1	57095	genome.wustl.edu	37	1	24113777	24113777	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24113777G>A	ENST00000246151.4	+	6	658	c.547G>A	c.(547-549)Gag>Aag	p.E183K	PITHD1_ENST00000374524.1_Missense_Mutation_p.E70K	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	183	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TCGCCGACACGAGGTGACCAT	0.507																																																	0													80.0	73.0	75.0					1																	24113777		2203	4300	6503	SO:0001583	missense	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.547G>A	1.37:g.24113777G>A	ENSP00000246151:p.Glu183Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Missense_Mutation	SNP	pfam_PITH_dom,superfamily_Galactose-bd-like	p.E183K	ENST00000246151.4	37	c.547	CCDS240.1	1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955090	0.18507	.	.	ENSG00000057757	ENST00000246151;ENST00000374524	.	.	.	5.88	5.88	0.94601	Proteasome-interacting thioredoxin-like domain, C-terminal (1);	0.093485	0.64402	D	0.000001	T	0.43344	0.1243	L	0.28556	0.865	0.51482	D	0.999921	B	0.24721	0.11	B	0.21360	0.034	T	0.32134	-0.9918	9	0.08179	T	0.78	-12.0051	15.3868	0.74708	0.0683:0.0:0.9317:0.0	.	183	Q9GZP4	PITH1_HUMAN	K	183;70	.	ENSP00000246151:E183K	E	+	1	0	PITHD1	23986364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.620000	0.74224	2.788000	0.95919	0.650000	0.86243	GAG	PITHD1	-	NULL		0.507	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITHD1	HGNC	protein_coding	OTTHUMT00000008243.1	G	NM_020362		24113777	+1	no_errors	ENST00000246151	ensembl	human	known	70_37	missense	SNP	1.000	A
PITRM1	10531	genome.wustl.edu	37	10	3185849	3185849	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:3185849C>T	ENST00000224949.4	-	23	2567				PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTCCGTGACACTCTGCAGCCA	0.602																																																	0																																										SO:0001627	intron_variant	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2533-156G>A	10.37:g.3185849C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	SNP	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			PITRM1	-	-		0.602	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	C			3185849	-1	no_errors	ENST00000464395	ensembl	human	known	70_37	rna	SNP	0.000	T
FAM13B	51306	genome.wustl.edu	37	5	137275821	137275821	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:137275821G>C	ENST00000033079.3	-	0	3292				PKD2L2_ENST00000508638.1_3'UTR|PKD2L2_ENST00000290431.5_Silent_p.L609L|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000502810.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CTGAGTGCCTGACAAAACGAA	0.398																																																	0													132.0	132.0	132.0					5																	137275821		2203	4300	6503	SO:0001624	3_prime_UTR_variant	27039			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.*93C>G	5.37:g.137275821G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.L609	ENST00000033079.3	37	c.1827	CCDS4195.1	5																																																																																			PKD2L2	-	NULL		0.398	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000251279.1	G			137275821	+1	no_errors	ENST00000290431	ensembl	human	known	70_37	silent	SNP	1.000	C
PLA1A	51365	genome.wustl.edu	37	3	119325689	119325689	+	Missense_Mutation	SNP	G	G	A	rs527683151	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:119325689G>A	ENST00000273371.4	+	2	214	c.142G>A	c.(142-144)Gat>Aat	p.D48N	PLA1A_ENST00000495992.1_Missense_Mutation_p.D48N|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.D32N	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	48					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAAGGCACCGATCTCAAAGT	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		21055	0.0		0.0	False		,,,				2504	0.002																0													132.0	133.0	133.0					3																	119325689		2203	4300	6503	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.142G>A	3.37:g.119325689G>A	ENSP00000273371:p.Asp48Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.D48N	ENST00000273371.4	37	c.142	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.401812	0.01165	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91011	-2.64;-2.77;-2.64	5.04	1.35	0.21983	Lipase, N-terminal (1);	0.336884	0.37393	N	0.002108	T	0.70570	0.3239	N	0.02708	-0.52	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57808	-0.7747	10	0.20046	T	0.44	-2.3772	2.3923	0.04381	0.604:0.158:0.0865:0.1515	.	48;48	Q53H76-3;Q53H76	.;PLA1A_HUMAN	N	48;48;32	ENSP00000273371:D48N;ENSP00000417326:D48N;ENSP00000418793:D32N	ENSP00000273371:D48N	D	+	1	0	PLA1A	120808379	0.886000	0.30341	0.062000	0.19696	0.001000	0.01503	2.847000	0.48270	0.143000	0.18926	-1.710000	0.00715	GAT	PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	G			119325689	+1	no_errors	ENST00000273371	ensembl	human	known	70_37	missense	SNP	0.260	A
PLA2G2D	26279	genome.wustl.edu	37	1	20440630	20440630	+	Missense_Mutation	SNP	G	G	A	rs575656652		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:20440630G>A	ENST00000375105.3	-	4	473	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	139					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R139R(1)		endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGCCCCCGGCAGTGGGGC	0.617										Multiple Myeloma(11;0.12)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17252	0.0		0.0	False		,,,				2504	0.0				Melanoma(60;742 1548 31762 39240)												1	Substitution - coding silent(1)	lung(1)											29.0	31.0	31.0					1																	20440630		2203	4300	6503	SO:0001583	missense	26279			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.415C>T	1.37:g.20440630G>A	ENSP00000364246:p.Arg139Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.R139W	ENST00000375105.3	37	c.415	CCDS203.1	1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495131	0.44352	.	.	ENSG00000117215	ENST00000375105	T	0.11712	2.75	4.58	-9.16	0.00694	Phospholipase A2 (3);	3.794430	0.00628	N	0.000474	T	0.14787	0.0357	M	0.73962	2.25	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.23868	-1.0176	10	0.72032	D	0.01	1.0E-4	11.5562	0.50750	0.0:0.2185:0.5944:0.187	.	139	Q9UNK4	PA2GD_HUMAN	W	139	ENSP00000364246:R139W	ENSP00000364246:R139W	R	-	1	2	PLA2G2D	20313217	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-2.131000	0.01311	-2.529000	0.00492	-0.521000	0.04368	CGG	PLA2G2D	-	superfamily_PLipase_A2,smart_PLipase_A2		0.617	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	HGNC	protein_coding	OTTHUMT00000007683.1	G			20440630	-1	no_errors	ENST00000375105	ensembl	human	known	70_37	missense	SNP	0.000	A
PLA2G2C	391013	genome.wustl.edu	37	1	20490647	20490647	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:20490647C>A	ENST00000429261.2	-	4	347	c.287G>T	c.(286-288)gGa>gTa	p.G96V	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G97V|PLA2G2C_ENST00000495760.2_Intron			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	96					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGGGTGCATCCACCTACAGA	0.602																																																	0													37.0	36.0	36.0					1																	20490647		1959	4144	6103	SO:0001583	missense	391013					1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.287G>T	1.37:g.20490647C>A	ENSP00000389335:p.Gly96Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7M4M6	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.G97V	ENST00000429261.2	37	c.290		1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500237	0.26861	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;T	0.27256	1.68;1.68	3.51	0.194	0.15143	Phospholipase A2 (3);	1.649520	0.04263	N	0.340630	T	0.32734	0.0839	M	0.71581	2.175	0.21652	N	0.999607	P	0.37176	0.586	B	0.42798	0.398	T	0.29579	-1.0007	10	0.66056	D	0.02	.	2.7387	0.05247	0.0:0.3705:0.2518:0.3777	.	96	Q5R387	PA2GC_HUMAN	V	96;97	ENSP00000389335:G96V;ENSP00000247992:G97V	ENSP00000247992:G97V	G	-	2	0	PLA2G2C	20363234	0.003000	0.15002	0.009000	0.14445	0.189000	0.23516	0.453000	0.21811	0.041000	0.15688	0.514000	0.50259	GGA	PLA2G2C	-	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2		0.602	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	PLA2G2C	HGNC	protein_coding	OTTHUMT00000007689.3	C	NM_001105572		20490647	-1	no_errors	ENST00000247992	ensembl	human	known	70_37	missense	SNP	0.010	A
PLA2G4F	255189	genome.wustl.edu	37	15	42434798	42434798	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42434798C>T	ENST00000382396.4	-	19	2343	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E755K			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	753	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGGGGGTCCTCAGCCTTGGCA	0.617																																																	0													77.0	70.0	72.0					15																	42434798		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2257G>A	15.37:g.42434798C>T	ENSP00000371833:p.Glu753Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E755K	ENST00000382396.4	37	c.2263	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512762	0.27123	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04194	3.68;3.68	4.88	0.924	0.19418	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.803881	0.11226	N	0.586163	T	0.03651	0.0104	L	0.33189	0.99	0.09310	N	1	P;B;P	0.39665	0.682;0.037;0.546	B;B;B	0.32980	0.156;0.066;0.115	T	0.45116	-0.9283	10	0.29301	T	0.29	-4.3982	8.5114	0.33220	0.0:0.6217:0.0:0.3783	.	540;755;753	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	K	749;755;753;753	ENSP00000380442:E755K;ENSP00000371833:E753K	ENSP00000290497:E749K	E	-	1	0	PLA2G4F	40222090	0.001000	0.12720	0.009000	0.14445	0.308000	0.27856	0.116000	0.15561	0.099000	0.17552	-0.136000	0.14681	GAG	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42434798	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.004	T
PLA2G4F	255189	genome.wustl.edu	37	15	42434897	42434897	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:42434897C>T	ENST00000382396.4	-	19	2244	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E722K			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	720	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGTACTTCTCTGTCATCTTC	0.602																																																	0													75.0	62.0	67.0					15																	42434897		2203	4299	6502	SO:0001583	missense	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2158G>A	15.37:g.42434897C>T	ENSP00000371833:p.Glu720Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E722K	ENST00000382396.4	37	c.2164	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906173	0.52333	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.15256	2.44;2.44	4.69	4.69	0.59074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.107189	0.41605	D	0.000857	T	0.21387	0.0515	M	0.76170	2.325	0.29575	N	0.8496	P;B;P	0.49185	0.851;0.27;0.92	B;B;B	0.44108	0.297;0.254;0.441	T	0.13548	-1.0505	10	0.30078	T	0.28	-35.1371	8.5297	0.33326	0.1502:0.6394:0.2104:0.0	.	507;722;720	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	K	716;722;720;720	ENSP00000380442:E722K;ENSP00000371833:E720K	ENSP00000290497:E716K	E	-	1	0	PLA2G4F	40222189	0.669000	0.27502	1.000000	0.80357	0.904000	0.53231	1.241000	0.32743	2.618000	0.88619	0.591000	0.81541	GAG	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	C	NM_213600		42434897	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	missense	SNP	0.998	T
PLCH1	23007	genome.wustl.edu	37	3	155314020	155314020	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:155314020C>G	ENST00000340059.7	-	2	190		c.e2+1		PLCH1_ENST00000460012.1_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTTGTTTTACTTTTTGCCTT	0.468																																																	0													186.0	196.0	193.0					3																	155314020		2203	4300	6503	SO:0001630	splice_region_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.190+1G>C	3.37:g.155314020C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	-	e2+1	ENST00000340059.7	37	c.190+1	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423621	0.83559	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2892	0.90123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156796714	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.665000	0.83852	2.311000	0.77944	0.655000	0.94253	.	PLCH1	-	-		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996	Intron	155314020	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PLEKHD1	400224	genome.wustl.edu	37	14	69995102	69995102	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:69995102G>A	ENST00000322564.7	+	13	1699	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	496										breast(1)|endometrium(1)|kidney(2)	4						ACCCAGCCTGGAGCCCCCTCG	0.652																																																	0													43.0	51.0	48.0					14																	69995102		692	1591	2283	SO:0001583	missense	400224			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.1487G>A	14.37:g.69995102G>A	ENSP00000317175:p.Gly496Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EJC2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G496E	ENST00000322564.7	37	c.1487	CCDS53903.1	14	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552929	0.65425	.	.	ENSG00000175985	ENST00000322564	.	.	.	5.24	4.33	0.51752	.	0.222673	0.29266	N	0.012653	T	0.26955	0.0660	N	0.24115	0.695	0.20764	N	0.999858	B	0.30793	0.295	B	0.26310	0.068	T	0.11494	-1.0585	8	.	.	.	-11.8899	11.765	0.51924	0.0:0.1774:0.8226:0.0	.	496	B9EJC2	.	E	496	.	.	G	+	2	0	PLEKHD1	69064855	0.983000	0.35010	0.171000	0.22900	0.914000	0.54420	2.576000	0.46033	1.166000	0.42689	0.655000	0.94253	GGA	PLEKHD1	-	NULL		0.652	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	G	NM_001161498		69995102	+1	no_errors	ENST00000322564	ensembl	human	known	70_37	missense	SNP	0.347	A
PLIN5	440503	genome.wustl.edu	37	19	4525824	4525824	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:4525824C>T	ENST00000381848.3	-	6	621	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	181					lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCAGGGCCTTCAGCCTCAGCC	0.657																																																	0													15.0	21.0	19.0					19																	4525824		2011	4150	6161	SO:0001583	missense	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.541G>A	19.37:g.4525824C>T	ENSP00000371272:p.Glu181Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC1|Q6ZS68	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.E181K	ENST00000381848.3	37	c.541	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	.	13.56	2.275005	0.40194	.	.	ENSG00000214456	ENST00000381848	T	0.06449	3.3	4.92	1.37	0.22104	.	0.443645	0.19144	U	0.121639	T	0.11196	0.0273	L	0.58428	1.81	0.80722	D	1	P	0.38300	0.626	B	0.42625	0.393	T	0.07597	-1.0764	10	0.72032	D	0.01	-16.824	14.7665	0.69642	0.0:0.7051:0.2949:0.0	.	181	Q00G26	PLIN5_HUMAN	K	181	ENSP00000371272:E181K	ENSP00000371272:E181K	E	-	1	0	PLIN5	4476824	0.022000	0.18835	0.866000	0.34008	0.181000	0.23173	0.726000	0.25984	0.169000	0.19679	0.561000	0.74099	GAA	PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.657	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	C	NM_001013706		4525824	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	missense	SNP	0.924	T
PLXNB3	5365	genome.wustl.edu	37	X	153038720	153038720	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:153038720G>A	ENST00000361971.5	+	18	3056	c.2942G>A	c.(2941-2943)cGt>cAt	p.R981H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R634H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R591H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1004H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	981	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTGTGCCGTACCAGGCCC	0.667													g|||	1	0.000264901	0.0	0.0	3775	,	,		12913	0.0		0.001	False		,,,				2504	0.0																0													47.0	38.0	41.0					X																	153038720		2197	4294	6491	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2942G>A	X.37:g.153038720G>A	ENSP00000355378:p.Arg981His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1004H	ENST00000361971.5	37	c.3011	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752219	0.15778	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.94	0.578	0.17391	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.594745	0.17405	N	0.175419	T	0.54319	0.1851	N	0.16201	0.385	0.23528	N	0.99749	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.32771	-0.9894	10	0.27082	T	0.32	.	4.3013	0.10925	0.3146:0.0:0.5321:0.1534	.	634;1004;981	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1004;981;634;591	ENSP00000442736:R1004H;ENSP00000355378:R981H;ENSP00000445569:R634H;ENSP00000441919:R591H	ENSP00000355378:R981H	R	+	2	0	PLXNB3	152691914	0.487000	0.25988	0.990000	0.47175	0.003000	0.03518	-0.029000	0.12329	-0.029000	0.13827	-0.397000	0.06425	CGT	PLXNB3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.667	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	G			153038720	+1	no_errors	ENST00000538966	ensembl	human	known	70_37	missense	SNP	0.712	A
PLXND1	23129	genome.wustl.edu	37	3	129284253	129284253	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:129284253C>T	ENST00000324093.4	-	25	4629	c.4451G>A	c.(4450-4452)cGg>cAg	p.R1484Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1484Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGTGCGCCGCAGCATGAG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)												0													114.0	101.0	105.0					3																	129284253		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4451G>A	3.37:g.129284253C>T	ENSP00000317128:p.Arg1484Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1484Q	ENST00000324093.4	37	c.4451	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346411	0.82022	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.48836	0.8;0.8	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.123057	0.49916	D	0.000126	T	0.74688	0.3749	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	T	0.81017	-0.1123	10	0.87932	D	0	.	18.2337	0.89942	0.0:1.0:0.0:0.0	.	79;1484	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Q	1484	ENSP00000317128:R1484Q;ENSP00000376931:R1484Q	ENSP00000317128:R1484Q	R	-	2	0	PLXND1	130766943	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.800000	0.85949	2.294000	0.77228	0.561000	0.74099	CGG	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	C	NM_015103		129284253	-1	no_errors	ENST00000324093	ensembl	human	known	70_37	missense	SNP	1.000	T
POLG	5428	genome.wustl.edu	37	15	89876861	89876861	+	Missense_Mutation	SNP	C	C	T	rs74382477		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:89876861C>T	ENST00000268124.5	-	2	458	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	POLG_ENST00000442287.2_Missense_Mutation_p.R42Q|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	42					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ctgctgctgccgccgccgctg	0.736								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0																																										SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.125G>A	15.37:g.89876861C>T	ENSP00000268124:p.Arg42Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.R42Q	ENST00000268124.5	37	c.125	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137797	0.09032	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96200	-3.94;-3.94	2.53	-0.795	0.10915	.	0.227039	0.13631	U	0.373696	D	0.84511	0.5488	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72805	-0.4182	10	0.10636	T	0.68	.	5.1171	0.14840	0.0:0.2444:0.3969:0.3588	.	42	P54098	DPOG1_HUMAN	Q	42	ENSP00000268124:R42Q;ENSP00000399851:R42Q	ENSP00000268124:R42Q	R	-	2	0	POLG	87677865	0.017000	0.18338	0.003000	0.11579	0.012000	0.07955	-0.201000	0.09464	-0.338000	0.08413	-1.937000	0.00501	CGG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub		0.736	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	C	NM_002693		89876861	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	0.003	T
POLQ	10721	genome.wustl.edu	37	3	121208086	121208086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:121208086G>C	ENST00000264233.5	-	16	3820	c.3692C>G	c.(3691-3693)tCa>tGa	p.S1231*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1231					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTAACATTTGAGTCTCTATT	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													180.0	187.0	185.0					3																	121208086		2203	4300	6503	SO:0001587	stop_gained	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3692C>G	3.37:g.121208086G>C	ENSP00000264233:p.Ser1231*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S1231*	ENST00000264233.5	37	c.3692	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.872995	0.98537	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.45	2.49	0.30216	.	0.722774	0.13279	N	0.399875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.5017	0.07676	0.2869:0.0:0.5237:0.1895	.	.	.	.	X	854;1231;1367	.	ENSP00000264233:S1231X	S	-	2	0	POLQ	122690776	0.000000	0.05858	0.057000	0.19452	0.659000	0.38960	0.091000	0.15046	0.869000	0.35703	-0.244000	0.11960	TCA	POLQ	-	NULL		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121208086	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	0.001	C
POLQ	10721	genome.wustl.edu	37	3	121240856	121240856	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:121240856G>C	ENST00000264233.5	-	8	1377	c.1249C>G	c.(1249-1251)Cat>Gat	p.H417D	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	417	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCTGCATGATGAAATGCT	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													88.0	91.0	90.0					3																	121240856		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1249C>G	3.37:g.121240856G>C	ENSP00000264233:p.His417Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.H417D	ENST00000264233.5	37	c.1249	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447284	0.84101	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.41758	0.99	4.95	4.95	0.65309	Helicase, C-terminal (3);	0.135896	0.64402	N	0.000003	T	0.80154	0.4571	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89096	0.3486	10	0.87932	D	0	.	17.5456	0.87860	0.0:0.0:1.0:0.0	.	417	O75417	DPOLQ_HUMAN	D	40;417;554	ENSP00000264233:H417D	ENSP00000264233:H417D	H	-	1	0	POLQ	122723546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.490000	0.90464	2.453000	0.82957	0.591000	0.81541	CAT	POLQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121240856	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C
POLR1A	25885	genome.wustl.edu	37	2	86265930	86265930	+	Silent	SNP	C	C	T	rs2289238		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86265930C>T	ENST00000263857.6	-	27	4305	c.3927G>A	c.(3925-3927)caG>caA	p.Q1309Q	POLR1A_ENST00000409681.1_Silent_p.Q1309Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1309					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						GGAATTTGTTCTGTTTTTCTT	0.502																																																	0													105.0	98.0	100.0					2																	86265930		1953	4161	6114	SO:0001819	synonymous_variant	25885			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.3927G>A	2.37:g.86265930C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.Q1309	ENST00000263857.6	37	c.3927	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.502	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86265930	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.123	T
POLR1A	25885	genome.wustl.edu	37	2	86266480	86266480	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:86266480C>T	ENST00000263857.6	-	26	4224	c.3846G>A	c.(3844-3846)aaG>aaA	p.K1282K	POLR1A_ENST00000409681.1_Silent_p.K1282K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1282					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						TGAGTTGCTTCTTCAGGCTTT	0.547																																																	0													227.0	224.0	225.0					2																	86266480		1941	4152	6093	SO:0001819	synonymous_variant	25885			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.3846G>A	2.37:g.86266480C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.K1282	ENST00000263857.6	37	c.3846	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.547	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86266480	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	1.000	T
POLR1B	84172	genome.wustl.edu	37	2	113333262	113333262	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:113333262G>A	ENST00000263331.5	+	15	3944	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	POLR1B_ENST00000417433.2_Missense_Mutation_p.E1066K|POLR1B_ENST00000541869.1_Missense_Mutation_p.E1160K|POLR1B_ENST00000409894.3_Missense_Mutation_p.E939K|POLR1B_ENST00000537335.1_Missense_Mutation_p.E911K	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1122					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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTTGTAGCTGAACTGGCAGC	0.378																																					Ovarian(16;256 576 9537 23969 41147)												0													108.0	105.0	106.0					2																	113333262		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3364G>A	2.37:g.113333262G>A	ENSP00000263331:p.Glu1122Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.E1160K	ENST00000263331.5	37	c.3478	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039276	0.93630	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.37	5.37	0.77165	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.987;0.996;1.0	D	0.97044	0.9759	10	0.87932	D	0	-26.4455	17.9067	0.88920	0.0:0.0:1.0:0.0	.	1160;939;1066;1122	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	K	1122;1160;939;911;1066	ENSP00000263331:E1122K;ENSP00000444136:E1160K;ENSP00000387143:E939K;ENSP00000437914:E911K;ENSP00000405358:E1066K	ENSP00000263331:E1122K	E	+	1	0	POLR1B	113049733	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.379000	0.97198	2.507000	0.84556	0.557000	0.71058	GAA	POLR1B	-	pfam_RNA_pol_Rpb2_7		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	G	NM_019014		113333262	+1	no_errors	ENST00000541869	ensembl	human	known	70_37	missense	SNP	1.000	A
PON3	5446	genome.wustl.edu	37	7	95001495	95001495	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:95001495G>A	ENST00000265627.5	-	4	367	c.357C>T	c.(355-357)ttC>ttT	p.F119F	PON3_ENST00000451904.1_Silent_p.F119F|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.F119F	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	119					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTTTGTCGATGAAAATACTGA	0.388																																																	0													138.0	133.0	135.0					7																	95001495		2203	4299	6502	SO:0001819	synonymous_variant	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.357C>T	7.37:g.95001495G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.F119	ENST00000265627.5	37	c.357	CCDS5639.1	7																																																																																			PON3	-	NULL		0.388	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	G	NM_000940		95001495	-1	no_errors	ENST00000265627	ensembl	human	known	70_37	silent	SNP	1.000	A
POU2F2	5452	genome.wustl.edu	37	19	42600013	42600013	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:42600013G>A	ENST00000526816.2	-	9	747	c.732C>T	c.(730-732)ttC>ttT	p.F244F	POU2F2_ENST00000529952.1_Silent_p.F244F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000529067.1_Silent_p.F228F|POU2F2_ENST00000389341.5_Silent_p.F228F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000533720.1_Silent_p.F228F|POU2F2_ENST00000560558.1_Silent_p.F189F			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	244	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGAGGGCCTCGAAGCGGGAAA	0.622																																																	0													123.0	119.0	121.0					19																	42600013		2203	4300	6503	SO:0001819	synonymous_variant	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.732C>T	19.37:g.42600013G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.F244	ENST00000526816.2	37	c.732	CCDS56095.1	19																																																																																			POU2F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.622	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	G			42600013	-1	no_errors	ENST00000342301	ensembl	human	known	70_37	silent	SNP	1.000	A
POU5F2	134187	genome.wustl.edu	37	5	93076346	93076346	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:93076346G>C	ENST00000510627.4	-	1	997	c.924C>G	c.(922-924)ctC>ctG	p.L308L	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	308					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCAGAGTAGAGACGTGTAT	0.627																																																	0													39.0	42.0	41.0					5																	93076346		1895	4103	5998	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.924C>G	5.37:g.93076346G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15169|Q6MZL7|Q8N748	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.L308	ENST00000510627.4	37	c.924	CCDS59489.1	5																																																																																			POU5F2	-	NULL		0.627	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	G	NM_153216		93076346	-1	no_errors	ENST00000510627	ensembl	human	known	70_37	silent	SNP	0.001	C
PPARG	5468	genome.wustl.edu	37	3	12458466	12458466	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:12458466G>A	ENST00000287820.6	+	6	1204	c.1083G>A	c.(1081-1083)ttG>ttA	p.L361L	PPARG_ENST00000397012.2_Silent_p.L333L|PPARG_ENST00000309576.6_Silent_p.L333L|PPARG_ENST00000397026.2_Silent_p.L339L|PPARG_ENST00000397010.2_Silent_p.L333L|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Silent_p.L333L|PPARG_ENST00000539812.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	361	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (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)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TGGCCTCCTTGATGAATAAAG	0.448			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																																	Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	0													63.0	60.0	61.0					3																	12458466		2203	4300	6503	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1083G>A	3.37:g.12458466G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L361	ENST00000287820.6	37	c.1083	CCDS2609.1	3																																																																																			PPARG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt		0.448	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	G	NM_005037		12458466	+1	no_errors	ENST00000287820	ensembl	human	known	70_37	silent	SNP	1.000	A
PPFIBP1	8496	genome.wustl.edu	37	12	27809592	27809592	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:27809592C>T	ENST00000318304.8	+	10	1116	c.833C>T	c.(832-834)tCt>tTt	p.S278F	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.S247F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.S247F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.S125F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	278					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAAAAGGAATCTGAAGTAAAA	0.318																																																	0													72.0	76.0	74.0					12																	27809592		2203	4299	6502	SO:0001583	missense	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.833C>T	12.37:g.27809592C>T	ENSP00000314724:p.Ser278Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S278F	ENST00000318304.8	37	c.833	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948863	0.34377	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.33216	2.73;1.45;1.42;1.85;1.85;1.87	5.05	1.86	0.25419	.	0.247105	0.21134	U	0.079594	T	0.19485	0.0468	N	0.14661	0.345	0.21105	N	0.999782	B;B;P;B	0.39003	0.137;0.047;0.654;0.078	B;B;B;B	0.37304	0.139;0.049;0.246;0.106	T	0.12192	-1.0557	10	0.59425	D	0.04	-0.9883	14.2359	0.65927	0.0:0.558:0.442:0.0	.	125;278;247;247	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	F	249;247;106;125;278;247;247	ENSP00000445822:S247F;ENSP00000444304:S106F;ENSP00000445425:S125F;ENSP00000314724:S278F;ENSP00000443442:S247F;ENSP00000228425:S247F	ENSP00000228425:S247F	S	+	2	0	PPFIBP1	27700859	0.892000	0.30473	0.991000	0.47740	0.973000	0.67179	0.453000	0.21811	0.571000	0.29365	0.655000	0.94253	TCT	PPFIBP1	-	NULL		0.318	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	C	NM_003622		27809592	+1	no_errors	ENST00000318304	ensembl	human	known	70_37	missense	SNP	0.998	T
PPM1B	5495	genome.wustl.edu	37	2	44459672	44459672	+	IGR	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:44459672C>T	ENST00000282412.4	+	0	2606				PPM1B_ENST00000378551.2_3'UTR|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCACTTGTAGCATTGCCTGTA	0.393																																																	0																																										SO:0001628	intergenic_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757		2.37:g.44459672C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	RNA	SNP	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																			PPM1B	-	-		0.393	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	C	NM_002706		44459672	+1	no_errors	ENST00000459690	ensembl	human	known	70_37	rna	SNP	1.000	T
PPP1R17	10842	genome.wustl.edu	37	7	31736641	31736641	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:31736641A>G	ENST00000342032.3	+	4	926	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	PPP1R17_ENST00000409146.3_Missense_Mutation_p.M49V|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	100					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AAAGGGCAAAATGATCCCTGT	0.433																																																	0													113.0	105.0	108.0					7																	31736641		2203	4300	6503	SO:0001583	missense	10842			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.298A>G	7.37:g.31736641A>G	ENSP00000340125:p.Met100Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DE58|Q9UDQ0	Missense_Mutation	SNP	NULL	p.M100V	ENST00000342032.3	37	c.298	CCDS5436.1	7	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317091	0.01331	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.28069	1.66;1.63	5.36	-0.213	0.13165	.	1.036390	0.07549	N	0.915048	T	0.10078	0.0247	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29610	-1.0006	10	0.02654	T	1	0.0017	2.3073	0.04177	0.5684:0.1176:0.2006:0.1135	.	49;100	B4DE58;O96001	.;PPR17_HUMAN	V	100;49	ENSP00000340125:M100V;ENSP00000386459:M49V	ENSP00000340125:M100V	M	+	1	0	C7orf16	31703166	0.682000	0.27624	0.016000	0.15963	0.900000	0.52787	0.986000	0.29590	-0.194000	0.10399	0.460000	0.39030	ATG	PPP1R17	-	NULL		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	A	NM_006658		31736641	+1	no_errors	ENST00000342032	ensembl	human	known	70_37	missense	SNP	0.001	G
PRAMEF2	65122	genome.wustl.edu	37	1	12921152	12921152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:12921152C>T	ENST00000240189.2	+	4	1030	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	315					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCTCTCCCAGTTCCCAAG	0.483																																																	0													142.0	144.0	144.0					1																	12921152		2202	4297	6499	SO:0001587	stop_gained	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.943C>T	1.37:g.12921152C>T	ENSP00000240189:p.Gln315*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q315*	ENST00000240189.2	37	c.943	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299642	0.40694	.	.	ENSG00000120952	ENST00000240189	.	.	.	0.824	0.824	0.18818	.	0.642419	0.15980	N	0.235324	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	.	.	.	X	315	.	ENSP00000240189:Q315X	Q	+	1	0	PRAMEF2	12843739	0.305000	0.24481	0.060000	0.19600	0.108000	0.19459	0.650000	0.24858	0.748000	0.32831	0.173000	0.16961	CAG	PRAMEF2	-	NULL		0.483	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12921152	+1	no_errors	ENST00000240189	ensembl	human	known	70_37	nonsense	SNP	0.068	T
PRAMEF14	729528	genome.wustl.edu	37	1	13669173	13669173	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:13669173C>T	ENST00000344998.3	-	4	1195	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	PRAMEF14_ENST00000334600.6_Missense_Mutation_p.R386K|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	338					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAATTTCTGCCAAAGTA	0.557																																																	0													47.0	57.0	54.0					1																	13669173		2141	4285	6426	SO:0001583	missense	729528					1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"""-"""	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1013G>A	1.37:g.13669173C>T	ENSP00000341333:p.Arg338Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R386K	ENST00000344998.3	37	c.1157		1	.	.	.	.	.	.	.	.	.	.	C	7.295	0.611837	0.14066	.	.	ENSG00000204481	ENST00000344998;ENST00000334600	T;T	0.09073	3.02;3.02	1.69	-0.52	0.11935	.	0.578516	0.17404	N	0.175443	T	0.04092	0.0114	N	0.12182	0.205	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.34428	-0.9829	10	0.66056	D	0.02	.	4.9218	0.13874	0.0:0.602:0.0:0.398	.	338	Q5SWL7	PRA14_HUMAN	K	338;386	ENSP00000341333:R338K;ENSP00000334410:R386K	ENSP00000334410:R386K	R	-	2	0	PRAMEF14	13541760	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.031000	0.13710	-0.250000	0.09555	-1.252000	0.01501	AGA	PRAMEF14	-	NULL		0.557	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	PRAMEF14	HGNC	protein_coding		C	NM_001099854		13669173	-1	no_errors	ENST00000334600	ensembl	human	known	70_37	missense	SNP	0.000	T
PPT1	5538	genome.wustl.edu	37	1	40539719	40539719	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:40539719G>A	ENST00000433473.3	-	0	1399				PPT1_ENST00000530076.1_3'UTR|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_3'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTCTATTGTGAACTATACGG	0.473																																																	0													195.0	196.0	196.0					1																	40539719		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.*14C>T	1.37:g.40539719G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY24|Q6FGQ4	RNA	SNP	-	NULL	ENST00000433473.3	37	NULL	CCDS447.1	1																																																																																			PPT1	-	-		0.473	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	G	NM_000310		40539719	-1	no_errors	ENST00000372775	ensembl	human	known	70_37	rna	SNP	0.000	A
PRB3	5544	genome.wustl.edu	37	12	11420837	11420837	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:11420837G>A	ENST00000279573.7	-	3	481	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	PRB3_ENST00000538488.1_Missense_Mutation_p.R116C|PRB3_ENST00000381842.3_Missense_Mutation_p.R116C|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	116	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637																																																	0													95.0	118.0	111.0					12																	11420837		1856	3995	5851	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.346C>T	12.37:g.11420837G>A	ENSP00000279573:p.Arg116Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.R116C	ENST00000279573.7	37	c.346		12	.	.	.	.	.	.	.	.	.	.	.	3.548	-0.092319	0.07053	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05025	3.51;3.51	0.52	-1.04	0.10068	.	3.382280	0.02479	U	0.088292	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.50066	0.931	B	0.29176	0.099	T	0.36016	-0.9765	9	0.59425	D	0.04	.	2.6117	0.04893	0.0:0.3112:0.3781:0.3107	.	116	Q04118	PRB3_HUMAN	C	116	ENSP00000371264:R116C;ENSP00000442626:R116C	ENSP00000279573:R116C	R	-	1	0	PRB3	11312104	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.195000	0.17155	-0.424000	0.07382	0.134000	0.15878	CGT	PRB3	-	NULL		0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	G	NM_006249		11420837	-1	no_errors	ENST00000381842	ensembl	human	known	70_37	missense	SNP	0.000	A
PRDM12	59335	genome.wustl.edu	37	9	133556792	133556792	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:133556792C>T	ENST00000253008.2	+	5	900	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	280					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACCGCCGCTTCAGCCAGTCGT	0.682																																																	0													12.0	13.0	13.0					9																	133556792		2165	4232	6397	SO:0001819	synonymous_variant	59335			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.840C>T	9.37:g.133556792C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFK9	Silent	SNP	pfam_Znf_C2H2,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_SET_dom,pfscan_Znf_C2H2	p.F280	ENST00000253008.2	37	c.840	CCDS6934.1	9																																																																																			PRDM12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_Znf_C2H2		0.682	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM12	HGNC	protein_coding	OTTHUMT00000054664.1	C	NM_021619		133556792	+1	no_errors	ENST00000253008	ensembl	human	known	70_37	silent	SNP	1.000	T
PREP	5550	genome.wustl.edu	37	6	105736680	105736680	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:105736680G>C	ENST00000369110.3	-	11	1599	c.1407C>G	c.(1405-1407)ttC>ttG	p.F469L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	469					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCATATAAGAAAGCTGGAT	0.408																																																	0													111.0	110.0	110.0					6																	105736680		2203	4300	6503	SO:0001583	missense	5550				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1407C>G	6.37:g.105736680G>C	ENSP00000358106:p.Phe469Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.F469L	ENST00000369110.3	37	c.1407	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	G	6.838	0.523920	0.13066	.	.	ENSG00000085377	ENST00000369110	T	0.20598	2.06	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00140	-2.01	0.58432	D	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.47222	-0.9134	10	0.02654	T	1	-26.5211	10.6394	0.45584	0.1455:0.0:0.8545:0.0	.	469	P48147	PPCE_HUMAN	L	469	ENSP00000358106:F469L	ENSP00000358106:F469L	F	-	3	2	PREP	105843373	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.928000	0.56506	1.414000	0.47017	0.555000	0.69702	TTC	PREP	-	prints_Peptidase_S9A		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	G			105736680	-1	no_errors	ENST00000369110	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKCZ	5590	genome.wustl.edu	37	1	1986919	1986919	+	IGR	SNP	C	C	T	rs573507359		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:1986919C>T								RP11-547D24.3 (5410 upstream) : PRKCZ (17981 downstream)														p.F37F(2)									CCACGACCTTCGAGGAGCTCT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(2)											80.0	57.0	65.0					1																	1986919		2203	4300	6503	SO:0001628	intergenic_variant	5590																															1.37:g.1986919C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F37		37	c.111		1																																																																																			PRKCZ	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta	0	0.557					PRKCZ	HGNC			C			1986919	+1	no_errors	ENST00000378567	ensembl	human	known	70_37	silent	SNP	0.903	T
PRTG	283659	genome.wustl.edu	37	15	55912932	55912932	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:55912932G>C	ENST00000389286.4	-	19	3174	c.3127C>G	c.(3127-3129)Cct>Gct	p.P1043A		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTAATTATAGGACCATAGCTA	0.323																																																	0													55.0	55.0	55.0					15																	55912932		1789	4051	5840	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3127C>G	15.37:g.55912932G>C	ENSP00000373937:p.Pro1043Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1043A	ENST00000389286.4	37	c.3127	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382148	0.82792	.	.	ENSG00000166450	ENST00000389286	T	0.60424	0.19	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75496	-0.3297	10	0.66056	D	0.02	-19.6207	19.2865	0.94077	0.0:0.0:1.0:0.0	.	1043	Q2VWP7	PRTG_HUMAN	A	1043	ENSP00000373937:P1043A	ENSP00000373937:P1043A	P	-	1	0	PRTG	53700224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.289000	0.72696	2.802000	0.96397	0.655000	0.94253	CCT	PRTG	-	NULL		0.323	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	G	NM_173814		55912932	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	missense	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79318388	79318389	+	Frame_Shift_Ins	INS	-	-	T	rs376038487|rs11267615	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:79318388_79318389insT	ENST00000376718.3	-	9	8263_8264	c.8140_8141insA	c.(8140-8142)ttgfs	p.L2714fs	PRUNE2_ENST00000428286.1_Frame_Shift_Ins_p.L2355fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2714				Missing (in Ref. 4; BAD93351, 5; AAR15150/AAR15151 and 6; BAA20822). {ECO:0000305}.	apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAGCCTGCAACGTAACTGCA	0.52																																																	0																																										SO:0001589	frameshift_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8140_8141insA	9.37:g.79318388_79318389insT	ENSP00000365908:p.Leu2714fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Ins	INS	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2355fs	ENST00000376718.3	37	c.7064_7063	CCDS47982.1	9																																																																																			PRUNE2	-	NULL		0.520	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	NM_138818		79318389	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	frame_shift_ins	INS	0.010:0.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79320088	79320088	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:79320088C>T	ENST00000376718.3	-	8	7225	c.7102G>A	c.(7102-7104)Gag>Aag	p.E2368K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2009K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2368					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTCAGGCTCTCTCAGTAAA	0.473																																																	0													171.0	163.0	166.0					9																	79320088		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7102G>A	9.37:g.79320088C>T	ENSP00000365908:p.Glu2368Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E2009K	ENST00000376718.3	37	c.6025	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.581722|3.581722	0.65992|0.65992	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.54866|0.33438	0.55;0.56|1.41	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.40040|0.40040	0.1101|0.1101	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.02901|0.02901	-1.1096|-1.1096	10|6	0.46703|.	T|.	0.11|.	-21.0781|-21.0781	12.8496|12.8496	0.57850|0.57850	0.0:0.9254:0.0:0.0746|0.0:0.9254:0.0:0.0746	.|.	2368|.	Q8WUY3|.	PRUN2_HUMAN|.	K|K	2368;2009;2367|1689	ENSP00000365908:E2368K;ENSP00000397425:E2009K|ENSP00000389706:R1689K	ENSP00000365908:E2368K|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78509908|78509908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	1.670000|1.670000	0.37502|0.37502	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|AGA	PRUNE2	-	NULL		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79320088	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMC2	5701	genome.wustl.edu	37	7	102988206	102988206	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:102988206G>T	ENST00000435765.1	+	2	459	c.48G>T	c.(46-48)gaG>gaT	p.E16D	PSMC2_ENST00000292644.3_Missense_Mutation_p.E16D|DNAJC2_ENST00000412522.1_5'Flank|DNAJC2_ENST00000379263.3_5'Flank|PSMC2_ENST00000544811.1_5'UTR	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGAGGATGAGAAGGACGACA	0.582																																																	0													134.0	115.0	121.0					7																	102988206		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.48G>T	7.37:g.102988206G>T	ENSP00000391211:p.Glu16Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E16D	ENST00000435765.1	37	c.48	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384952	0.42308	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.94613	-3.47;-3.47	4.34	1.53	0.23141	.	0.051806	0.85682	D	0.000000	D	0.84329	0.5448	N	0.11673	0.155	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71140	-0.4679	10	0.18276	T	0.48	-21.1845	7.7874	0.29099	0.3361:0.0:0.6638:0.0	.	16	P35998	PRS7_HUMAN	D	16	ENSP00000391211:E16D;ENSP00000292644:E16D	ENSP00000292644:E16D	E	+	3	2	PSMC2	102775442	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	1.152000	0.31663	0.210000	0.20664	0.655000	0.94253	GAG	PSMC2	-	NULL		0.582	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	G	NM_002803		102988206	+1	no_errors	ENST00000292644	ensembl	human	known	70_37	missense	SNP	0.998	T
PSMD2	5708	genome.wustl.edu	37	3	184019826	184019826	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:184019826A>T	ENST00000310118.4	+	5	1229	c.671A>T	c.(670-672)aAt>aTt	p.N224I	PSMD2_ENST00000439383.1_Missense_Mutation_p.N94I|PSMD2_ENST00000435761.1_Missense_Mutation_p.N65I|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGAAAATGCATATGCA	0.512																																					Colon(24;313 636 6917 9932 15554)												0													132.0	117.0	123.0					3																	184019826		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.671A>T	3.37:g.184019826A>T	ENSP00000310129:p.Asn224Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.N224I	ENST00000310118.4	37	c.671	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537343	0.45176	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.25414	1.8;1.8;1.8	4.9	4.9	0.64082	Armadillo-type fold (1);	0.047411	0.85682	D	0.000000	T	0.29976	0.0750	M	0.73372	2.23	0.54753	D	0.999987	B;B	0.30406	0.001;0.278	B;B	0.24701	0.002;0.055	T	0.14364	-1.0475	10	0.59425	D	0.04	-17.4564	14.689	0.69070	1.0:0.0:0.0:0.0	.	65;224	E9PCS3;Q13200	.;PSMD2_HUMAN	I	224;216;65;94	ENSP00000310129:N224I;ENSP00000402618:N65I;ENSP00000416028:N94I	ENSP00000310129:N224I	N	+	2	0	PSMD2	185502520	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.814000	0.69208	2.054000	0.61138	0.438000	0.28831	AAT	PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1		0.512	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1	A	NM_002808		184019826	+1	no_errors	ENST00000310118	ensembl	human	known	70_37	missense	SNP	0.999	T
PSMD9	5715	genome.wustl.edu	37	12	122326835	122326835	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:122326835G>C	ENST00000541212.1	+	1	199	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	PSMD9_ENST00000542602.1_Missense_Mutation_p.E25Q|PSMD9_ENST00000261817.2_Missense_Mutation_p.E25Q|RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.E25Q|PSMD9_ENST00000340175.5_Missense_Mutation_p.E25Q			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGACGTCCAGGAGCTGATGCG	0.642											OREG0022209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													38.0	23.0	28.0					12																	122326835		2200	4297	6497	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.73G>C	12.37:g.122326835G>C	ENSP00000440485:p.Glu25Gln	Somatic	1518	WXS	Illumina HiSeq	Phase_IV	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.E25Q	ENST00000541212.1	37	c.73	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377486	0.42105	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000542602	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.72	4.72	0.59763	.	0.543715	0.20930	N	0.083111	T	0.10337	0.0253	N	0.14661	0.345	0.26763	N	0.969968	B;B	0.17038	0.02;0.002	B;B	0.19946	0.027;0.003	T	0.20538	-1.0272	10	0.15952	T	0.53	-26.3743	12.9696	0.58505	0.0:0.1628:0.8372:0.0	.	25;25	F8W7V8;O00233	.;PSMD9_HUMAN	Q	25	ENSP00000440485:E25Q;ENSP00000340847:E25Q;ENSP00000261817:E25Q;ENSP00000443081:E25Q;ENSP00000443772:E25Q	ENSP00000261817:E25Q	E	+	1	0	RP11-87C12.2;PSMD9	120811218	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.784000	0.38674	2.607000	0.88179	0.561000	0.74099	GAG	PSMD9	-	NULL		0.642	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122326835	+1	no_errors	ENST00000541212	ensembl	human	known	70_37	missense	SNP	1.000	C
PTER	9317	genome.wustl.edu	37	10	16526443	16526443	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:16526443G>A	ENST00000378000.1	+	3	306	c.60G>A	c.(58-60)ctG>ctA	p.L20L	PTER_ENST00000535784.2_Silent_p.L20L|PTER_ENST00000298942.3_Silent_p.L20L|PTER_ENST00000423462.2_Silent_p.L20L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	20					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CAAGCAAACTGGGCCGTACCC	0.483																																					Ovarian(2;46 150 15648 38137 47908)												0													96.0	90.0	92.0					10																	16526443		2203	4300	6503	SO:0001819	synonymous_variant	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.60G>A	10.37:g.16526443G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.L20	ENST00000378000.1	37	c.60	CCDS7111.1	10																																																																																			PTER	-	pfam_Aryldialkylphosphatase		0.483	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	G	NM_030664		16526443	+1	no_errors	ENST00000298942	ensembl	human	known	70_37	silent	SNP	1.000	A
PTGDR	5729	genome.wustl.edu	37	14	52734613	52734613	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:52734613C>A	ENST00000306051.2	+	1	183	c.81C>A	c.(79-81)ttC>ttA	p.F27L	PTGDR_ENST00000553372.1_Missense_Mutation_p.F27L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	27					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGTGCTCTTCAGCACCGGCC	0.701																																																	0													22.0	23.0	23.0					14																	52734613		2203	4299	6502	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.81C>A	14.37:g.52734613C>A	ENSP00000303424:p.Phe27Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.F27L	ENST00000306051.2	37	c.81	CCDS9707.1	14	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208527	0.58343	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.40756	1.02;1.02	4.83	2.97	0.34412	.	0.000000	0.50627	D	0.000101	T	0.55641	0.1933	M	0.67397	2.05	0.40900	D	0.984147	D	0.76494	0.999	D	0.80764	0.994	T	0.52601	-0.8554	10	0.33141	T	0.24	-31.2281	7.5861	0.27993	0.0:0.724:0.0:0.276	.	27	Q13258	PD2R_HUMAN	L	27	ENSP00000303424:F27L;ENSP00000452408:F27L	ENSP00000303424:F27L	F	+	3	2	PTGDR	51804363	0.017000	0.18338	0.999000	0.59377	0.372000	0.29890	0.273000	0.18662	0.697000	0.31718	0.563000	0.77884	TTC	PTGDR	-	NULL		0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734613	+1	no_errors	ENST00000306051	ensembl	human	known	70_37	missense	SNP	1.000	A
PTK7	5754	genome.wustl.edu	37	6	43109524	43109524	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:43109524G>T	ENST00000230419.4	+	11	1958	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	PTK7_ENST00000352931.2_Missense_Mutation_p.Q579H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q449H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q539H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q587H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	579	Ig-like C2-type 6.|Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGCAGGGCCAGATTCGTGCCC	0.657																																																	0													105.0	102.0	103.0					6																	43109524		2203	4300	6503	SO:0001583	missense	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1737G>T	6.37:g.43109524G>T	ENSP00000230419:p.Gln579His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q579H	ENST00000230419.4	37	c.1737	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295650	0.81025	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.68765	-0.35;2.69;-0.35;2.69;-0.35	5.23	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.246037	0.39909	N	0.001239	T	0.62258	0.2413	L	0.41415	1.275	0.52099	D	0.999942	P;P;P;P;P	0.44281	0.755;0.831;0.725;0.659;0.767	P;P;P;B;P	0.57009	0.726;0.712;0.601;0.357;0.811	T	0.65726	-0.6098	10	0.49607	T	0.09	.	13.3607	0.60654	0.0773:0.0:0.9227:0.0	.	587;449;539;579;579	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	H	579;449;579;539;587	ENSP00000230419:Q579H;ENSP00000325462:Q449H;ENSP00000326029:Q579H;ENSP00000325992:Q539H;ENSP00000418754:Q587H	ENSP00000230418:Q579H	Q	+	3	2	PTK7	43217502	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.147000	0.58078	1.196000	0.43129	0.561000	0.74099	CAG	PTK7	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.657	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	G			43109524	+1	no_errors	ENST00000230419	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRN2	5799	genome.wustl.edu	37	7	157361625	157361625	+	Silent	SNP	C	C	T	rs144485708		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:157361625C>T	ENST00000389418.4	-	21	2880	c.2871G>A	c.(2869-2871)ctG>ctA	p.L957L	PTPRN2_ENST00000389416.4_Silent_p.L940L|PTPRN2_ENST00000409483.1_Silent_p.L919L|PTPRN2_ENST00000404321.2_Silent_p.L980L|PTPRN2_ENST00000389413.3_Silent_p.L928L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	957	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCATGTCGATCAGGACGTAGG	0.572																																																	0									,,	0,4406		0,0,2203	157.0	118.0	131.0		2871,2820,2784	4.7	1.0	7	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	957/1016,940/999,928/987	157361625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2871G>A	7.37:g.157361625C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L980	ENST00000389418.4	37	c.2940	CCDS5947.1	7																																																																																			PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.572	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157361625	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRT	11122	genome.wustl.edu	37	20	40713386	40713386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:40713386G>A	ENST00000373187.1	-	29	4071	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R1377*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R1348*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R1361*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R1357*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R1368*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R1367*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1358	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	p.R1380*(1)		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)				TCCAGTCGTCGGACCACTTTG	0.597																																																	1	Substitution - Nonsense(1)	lung(1)											53.0	60.0	57.0					20																	40713386		2034	4171	6205	SO:0001587	stop_gained	11122			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.4072C>T	20.37:g.40713386G>A	ENSP00000362283:p.Arg1358*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1380*	ENST00000373187.1	37	c.4138	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.987074	0.99499	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.55	4.59	0.56863	.	0.221448	0.35525	N	0.003147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7018	0.62613	0.0:0.0:0.6658:0.3342	.	.	.	.	X	1357;1358;1361;1367;1380;1368;1348	.	ENSP00000348408:R1367X	R	-	1	2	PTPRT	40146800	0.954000	0.32549	1.000000	0.80357	0.994000	0.84299	0.676000	0.25247	1.549000	0.49425	0.655000	0.94253	CGA	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			40713386	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	nonsense	SNP	0.999	A
PTPRT	11122	genome.wustl.edu	37	20	41400179	41400179	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:41400179G>A	ENST00000373187.1	-	5	579	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.H194Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H194Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H194Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H194Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H194Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H194Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	194	Ig-like C2-type.				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)				CGCAGAAAATGAGGTGCTTTT	0.498																																																	0													122.0	112.0	115.0					20																	41400179		1956	4161	6117	SO:0001583	missense	11122			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.580C>T	20.37:g.41400179G>A	ENSP00000362283:p.His194Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.H194Y	ENST00000373187.1	37	c.580	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732753	0.89482	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.45	5.45	0.79879	Immunoglobulin-like (1);	0.055185	0.64402	D	0.000001	T	0.57110	0.2031	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.58446	-0.7635	10	0.87932	D	0	.	19.6268	0.95680	0.0:0.0:1.0:0.0	.	194;194	O14522-1;O14522	.;PTPRT_HUMAN	Y	194	ENSP00000362286:H194Y;ENSP00000362283:H194Y;ENSP00000362289:H194Y;ENSP00000348408:H194Y;ENSP00000362294:H194Y;ENSP00000362280:H194Y;ENSP00000362297:H194Y	ENSP00000348408:H194Y	H	-	1	0	PTPRT	40833593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.711000	0.92665	0.650000	0.86243	CAT	PTPRT	-	pfscan_Ig-like		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41400179	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	A
PUF60	22827	genome.wustl.edu	37	8	144900399	144900399	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:144900399C>G	ENST00000526683.1	-	7	1122	c.567G>C	c.(565-567)caG>caC	p.Q189H	PUF60_ENST00000453551.2_Missense_Mutation_p.Q146H|PUF60_ENST00000527197.1_Missense_Mutation_p.Q143H|PUF60_ENST00000313352.7_Missense_Mutation_p.Q129H|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000524570.1_5'UTR|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.Q172H|PUF60_ENST00000456095.2_Missense_Mutation_p.Q160H	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	189	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGTTCATCTGCTCCAAGG	0.642																																																	0													36.0	38.0	37.0					8																	144900399		2152	4237	6389	SO:0001583	missense	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.567G>C	8.37:g.144900399C>G	ENSP00000434359:p.Gln189His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.Q189H	ENST00000526683.1	37	c.567	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.351523|4.351523	0.82132|0.82132	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000532884;ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55465|0.55465	0.1922|0.1922	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31931|.	0.196;0.199;0.347|.	B;B;B|.	0.35353|.	0.127;0.114;0.201|.	T|T	0.51733|0.51733	-0.8668|-0.8668	10|5	0.52906|.	T|.	0.07|.	.|.	17.3535|17.3535	0.87329|0.87329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;172;189|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	H|T	189;146;129;160;172;143;171;209;209;226|54;187	ENSP00000434359:Q189H;ENSP00000402953:Q146H;ENSP00000322016:Q129H;ENSP00000395417:Q160H;ENSP00000322036:Q172H;ENSP00000431960:Q143H;ENSP00000432610:Q171H;ENSP00000434863:Q209H;ENSP00000437309:Q209H;ENSP00000433403:Q226H|.	ENSP00000322016:Q129H|.	Q|R	-|-	3|2	2|0	PUF60|PUF60	144972387|144972387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.943000|5.943000	0.70211|0.70211	2.343000|2.343000	0.79666|0.79666	0.655000|0.655000	0.94253|0.94253	CAG|AGA	PUF60	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd		0.642	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	C	NM_014281		144900399	-1	no_errors	ENST00000526683	ensembl	human	known	70_37	missense	SNP	1.000	G
PWP2	5822	genome.wustl.edu	37	21	45547964	45547964	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:45547964C>G	ENST00000291576.7	+	18	2419	c.2292C>G	c.(2290-2292)ctC>ctG	p.L764L	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	764					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGCCATCCTCATGGCCCTCC	0.687																																																	0													29.0	27.0	28.0					21																	45547964		2202	4299	6501	SO:0001819	synonymous_variant	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2292C>G	21.37:g.45547964C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L764	ENST00000291576.7	37	c.2292	CCDS33579.1	21																																																																																			PWP2	-	NULL		0.687	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	C	NM_005049		45547964	+1	no_errors	ENST00000291576	ensembl	human	known	70_37	silent	SNP	0.998	G
RAB11FIP2	22841	genome.wustl.edu	37	10	119805356	119805356	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:119805356C>A	ENST00000355624.3	-	1	758	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	CASC2_ENST00000454781.1_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.D107Y|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000426021.1_RNA|CASC2_ENST00000414722.1_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	107					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCAAAGATGTCATTGAGATTG	0.358																																																	0													59.0	59.0	59.0					10																	119805356		2203	4300	6503	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.319G>T	10.37:g.119805356C>A	ENSP00000347839:p.Asp107Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D107Y	ENST00000355624.3	37	c.319	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747645	0.69533	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.72942	-0.7;-0.7	4.98	4.98	0.66077	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.328711	0.36482	N	0.002570	T	0.73682	0.3618	L	0.55481	1.735	0.44366	D	0.997265	P;D	0.54397	0.932;0.966	P;P	0.52554	0.492;0.702	T	0.76822	-0.2817	10	0.87932	D	0	-14.5486	12.0493	0.53498	0.0:0.9208:0.0:0.0792	.	107;107	Q3I768;Q7L804	.;RFIP2_HUMAN	Y	107	ENSP00000347839:D107Y;ENSP00000358200:D107Y	ENSP00000347839:D107Y	D	-	1	0	RAB11FIP2	119795346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.469000	0.83416	0.655000	0.94253	GAC	RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.358	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119805356	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD54L2	23132	genome.wustl.edu	37	3	51696554	51696554	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:51696554G>C	ENST00000409535.2	+	22	3647	c.3522G>C	c.(3520-3522)gaG>gaC	p.E1174D	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E868D	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1174						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.E1174D(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACAGCCCAGAGATCATCAGTG	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)											57.0	60.0	59.0					3																	51696554		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3522G>C	3.37:g.51696554G>C	ENSP00000386520:p.Glu1174Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1174D	ENST00000409535.2	37	c.3522	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.952208|2.952208	0.53293|0.53293	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|D;D	.|0.94232	.|-3.3;-3.38	5.4|5.4	3.58|3.58	0.41010|0.41010	.|.	.|0.112431	.|0.64402	.|D	.|0.000010	D|D	0.90421|0.90421	0.7001|0.7001	N|N	0.24115|0.24115	0.695|0.695	0.32626|0.32626	N|N	0.522691|0.522691	.|D;D	.|0.61080	.|0.989;0.989	.|P;P	.|0.55391	.|0.775;0.696	D|D	0.89130|0.89130	0.3509|0.3509	5|10	.|0.33940	.|T	.|0.23	-18.5438|-18.5438	8.0748|8.0748	0.30710|0.30710	0.3296:0.0:0.6704:0.0|0.3296:0.0:0.6704:0.0	.|.	.|1174;763	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	H|D	1003|1174;868	.|ENSP00000386520:E1174D;ENSP00000296477:E868D	.|ENSP00000296477:E868D	D|E	+|+	1|3	0|2	RAD54L2|RAD54L2	51671594|51671594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.513000|1.513000	0.35823|0.35823	0.621000|0.621000	0.30232|0.30232	0.563000|0.563000	0.77884|0.77884	GAT|GAG	RAD54L2	-	NULL		0.647	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51696554	+1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	C
RADIL	55698	genome.wustl.edu	37	7	4874663	4874663	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:4874663C>T	ENST00000399583.3	-	4	1178	c.991G>A	c.(991-993)Gag>Aag	p.E331K	RADIL_ENST00000538469.1_Missense_Mutation_p.E91K|RADIL_ENST00000536091.1_Missense_Mutation_p.E331K	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	331	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGCCCCACCTCGGAGAAGTTG	0.706																																																	0													12.0	16.0	15.0					7																	4874663		1953	4135	6088	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.991G>A	7.37:g.4874663C>T	ENSP00000382492:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E331K	ENST00000399583.3	37	c.991	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	-	6.152	0.396202	0.11638	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.22336	3.36;1.96;3.29	4.45	3.57	0.40892	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.292492	0.33670	N	0.004668	T	0.15825	0.0381	L	0.46741	1.465	0.30330	N	0.786761	B	0.24426	0.103	B	0.19666	0.026	T	0.20306	-1.0279	10	0.09843	T	0.71	-15.5362	9.8048	0.40786	0.0:0.9038:0.0:0.0962	.	331	Q96JH8	RADIL_HUMAN	K	331;302;65;331;91	ENSP00000382492:E331K;ENSP00000442533:E331K;ENSP00000442966:E91K	ENSP00000320946:E302K	E	-	1	0	RADIL	4841189	0.001000	0.12720	0.403000	0.26384	0.805000	0.45488	0.472000	0.22116	0.888000	0.36160	0.651000	0.88453	GAG	RADIL	-	superfamily_SMAD_FHA_domain		0.706	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	C	NM_018059		4874663	-1	no_errors	ENST00000399583	ensembl	human	known	70_37	missense	SNP	0.753	T
RALY	22913	genome.wustl.edu	37	20	32661383	32661383	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:32661383G>A	ENST00000246194.3	+	4	773	c.271G>A	c.(271-273)Gga>Aga	p.G91R	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.G91R	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	91	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAACATGGCTGGAGAGCCTAA	0.527																																																	0													166.0	134.0	144.0					20																	32661383		2203	4300	6503	SO:0001583	missense	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.271G>A	20.37:g.32661383G>A	ENSP00000246194:p.Gly91Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.G91R	ENST00000246194.3	37	c.271	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431611	0.83776	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000442805	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.55	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.01535	-0.81	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.53129	-0.8482	10	0.39692	T	0.17	-9.8136	14.686	0.69049	0.0716:0.0:0.9284:0.0	.	91;91	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	R	91	ENSP00000364255:G91R;ENSP00000413638:G91R;ENSP00000246194:G91R;ENSP00000415973:G91R	ENSP00000246194:G91R	G	+	1	0	RALY	32125044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.894000	0.99253	0.591000	0.81541	GGA	RALY	-	pirsf_hnRNP_C_Raly,pfscan_RRM_dom		0.527	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	G			32661383	+1	no_errors	ENST00000246194	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA2	5922	genome.wustl.edu	37	3	141291535	141291535	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:141291535G>A	ENST00000452898.1	+	12	1289	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	RASA2_ENST00000286364.3_Silent_p.L418L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	418	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GGCACTACCTGAAAGTAACAT	0.358																																																	0													108.0	106.0	107.0					3																	141291535		2203	4300	6503	SO:0001819	synonymous_variant	5922			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1254G>A	3.37:g.141291535G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.L418	ENST00000452898.1	37	c.1254		3																																																																																			RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.358	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		G	NM_006506		141291535	+1	no_errors	ENST00000452898	ensembl	human	known	70_37	silent	SNP	1.000	A
RASEF	158158	genome.wustl.edu	37	9	85615963	85615963	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:85615963C>G	ENST00000376447.3	-	10	1545	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	429					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGCAGGCTGTCAACTTCACAA	0.507																																																	0													74.0	69.0	71.0					9																	85615963		2203	4300	6503	SO:0001583	missense	158158			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1285G>C	9.37:g.85615963C>G	ENSP00000365630:p.Asp429His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.D429H	ENST00000376447.3	37	c.1285	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692795	0.88735	.	.	ENSG00000165105	ENST00000376447	T	0.67171	-0.25	5.92	5.92	0.95590	.	0.114577	0.64402	D	0.000019	T	0.80486	0.4632	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.80859	-0.1194	10	0.87932	D	0	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	429	Q8IZ41	RASEF_HUMAN	H	429	ENSP00000365630:D429H	ENSP00000365630:D429H	D	-	1	0	RASEF	84805783	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.220000	0.65267	2.814000	0.96858	0.585000	0.79938	GAC	RASEF	-	NULL		0.507	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	C	NM_152573		85615963	-1	no_errors	ENST00000376447	ensembl	human	known	70_37	missense	SNP	1.000	G
RASGEF1B	153020	genome.wustl.edu	37	4	82377721	82377721	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:82377721G>A	ENST00000264400.2	-	4	590				RASGEF1B_ENST00000436139.2_Silent_p.I174I|RASGEF1B_ENST00000509081.1_Intron|RASGEF1B_ENST00000335927.7_Intron|RASGEF1B_ENST00000514889.1_Intron	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B						positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AAGCAGTGGAGATTAGGATGC	0.483																																																	0																																										SO:0001627	intron_variant	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.438+83C>T	4.37:g.82377721G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	p.I174	ENST00000264400.2	37	c.522	CCDS34022.1	4																																																																																			RASGEF1B	-	superfamily_Ras_GEF_dom		0.483	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASGEF1B	HGNC	protein_coding	OTTHUMT00000362830.1	G	NM_152545		82377721	-1	no_errors	ENST00000436139	ensembl	human	putative	70_37	silent	SNP	0.000	A
RASGRP2	10235	genome.wustl.edu	37	11	64508425	64508425	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:64508425G>T	ENST00000354024.3	-	5	618	c.366C>A	c.(364-366)gaC>gaA	p.D122E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000377489.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000377486.3_Missense_Mutation_p.D122E|RASGRP2_ENST00000394430.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377487.1_Missense_Mutation_p.D122E|RASGRP2_ENST00000394429.1_3'UTR	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	122	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCACACGCTGTCTATGTCGA	0.532											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													71.0	57.0	62.0					11																	64508425		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.366C>A	11.37:g.64508425G>T	ENSP00000338864:p.Asp122Glu	Somatic	1077	WXS	Illumina HiSeq	Phase_IV	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D122E	ENST00000354024.3	37	c.366	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449057	0.26074	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822;ENST00000377486;ENST00000377487;ENST00000377489;ENST00000394430;ENST00000439594	T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.3	-4.5	0.03493	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.523072	0.21028	N	0.081396	T	0.16727	0.0402	N	0.16307	0.4	0.27921	N	0.938247	B	0.02656	0.0	B	0.01281	0.0	T	0.17167	-1.0378	10	0.13108	T	0.6	0.0288	19.2304	0.93836	0.0:0.268:0.7319:0.0	.	122	Q7LDG7	GRP2_HUMAN	E	122	ENSP00000366714:D122E;ENSP00000377953:D122E;ENSP00000366717:D122E;ENSP00000338864:D122E;ENSP00000399114:D122E;ENSP00000366706:D122E;ENSP00000366707:D122E;ENSP00000366709:D122E;ENSP00000377951:D122E	ENSP00000338864:D122E	D	-	3	2	RASGRP2	64265001	0.026000	0.19158	0.666000	0.29783	0.696000	0.40369	-0.170000	0.09897	-0.637000	0.05516	-0.494000	0.04653	GAC	RASGRP2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.532	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	G	NM_153819		64508425	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	0.993	T
RBFOX1	54715	genome.wustl.edu	37	16	7743345	7743345	+	Intron	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:7743345G>T	ENST00000550418.1	+	15	1983				RBFOX1_ENST00000535565.2_Nonsense_Mutation_p.E299*|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000355637.4_Nonsense_Mutation_p.E363*|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547372.1_Nonsense_Mutation_p.E385*|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000552089.1_Nonsense_Mutation_p.E359*	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCAGCAGATGAAATTTCTTG	0.398																																					Ovarian(157;934 2567 15163 39509)												0													150.0	136.0	141.0					16																	7743345		2197	4300	6497	SO:0001627	intron_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.996-15713G>T	16.37:g.7743345G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Nonsense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.E385*	ENST00000550418.1	37	c.1153	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.668283	0.98908	.	.	ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.521	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	385;299;359;363	.	ENSP00000347855:E363X	E	+	1	0	RBFOX1	7683346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.861000	0.98227	0.650000	0.86243	GAA	RBFOX1	-	pirsf_RNA-bd_Fox-1		0.398	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7743345	+1	no_errors	ENST00000547372	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBMXL3	139804	genome.wustl.edu	37	X	114424872	114424872	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:114424872G>C	ENST00000424776.3	+	1	910	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	290							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						TCGCGACCATGAGTACACAGA	0.612																																																	0													33.0	36.0	35.0					X																	114424872		692	1591	2283	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.868G>C	X.37:g.114424872G>C	ENSP00000417451:p.Glu290Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXC0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E290Q	ENST00000424776.3	37	c.868	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886700	0.17540	.	.	ENSG00000175718	ENST00000424776	T	0.04502	3.61	0.682	0.682	0.17992	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42447	-0.9451	8	0.87932	D	0	.	.	.	.	.	290	Q8N7X1	RMXL3_HUMAN	Q	290	ENSP00000417451:E290Q	ENSP00000417451:E290Q	E	+	1	0	RBMXL3	114331128	1.000000	0.71417	0.004000	0.12327	0.003000	0.03518	1.655000	0.37345	0.593000	0.29745	0.436000	0.28706	GAG	RBMXL3	-	NULL		0.612	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	G	NM_001145346		114424872	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	missense	SNP	0.029	C
RCSD1	92241	genome.wustl.edu	37	1	167663477	167663477	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:167663477G>A	ENST00000367854.3	+	5	743	c.412G>A	c.(412-414)Gag>Aag	p.E138K	RCSD1_ENST00000537350.1_Missense_Mutation_p.E108K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	138					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAGCGAGGCAGAGGAGGTGCC	0.577																																																	0													63.0	58.0	60.0					1																	167663477		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.412G>A	1.37:g.167663477G>A	ENSP00000356828:p.Glu138Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	pfam_RCSD	p.E138K	ENST00000367854.3	37	c.412	CCDS1263.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579190	0.86645	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.52295	0.7;0.67	5.18	5.18	0.71444	.	0.253567	0.39146	N	0.001444	T	0.57562	0.2062	M	0.65498	2.005	0.28191	N	0.927741	D;D	0.76494	0.996;0.999	P;D	0.80764	0.877;0.994	T	0.61700	-0.7009	9	0.54805	T	0.06	-27.2974	12.9073	0.58160	0.0847:0.0:0.9153:0.0	.	108;138	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	K	138;114;108	ENSP00000356828:E138K;ENSP00000439409:E108K	ENSP00000355291:E114K	E	+	1	0	RCSD1	165930101	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	4.873000	0.63057	2.572000	0.86782	0.655000	0.94253	GAG	RCSD1	-	NULL		0.577	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	G	NM_052862		167663477	+1	no_errors	ENST00000367854	ensembl	human	known	70_37	missense	SNP	1.000	A
REM2	161253	genome.wustl.edu	37	14	23354206	23354206	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:23354206C>G	ENST00000267396.4	+	2	550	c.427C>G	c.(427-429)Cac>Gac	p.H143D	REM2_ENST00000536884.1_Missense_Mutation_p.H143D	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	143					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGACAGTGCTCACGAACCGGA	0.612																																																	0													33.0	36.0	35.0					14																	23354206		2003	4169	6172	SO:0001583	missense	161253				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.427C>G	14.37:g.23354206C>G	ENSP00000267396:p.His143Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5P1|Q8N8R8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase	p.H143D	ENST00000267396.4	37	c.427	CCDS45082.1	14	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676874	0.47886	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.78816	-1.21;1.23	5.72	5.72	0.89469	.	0.110562	0.64402	D	0.000007	T	0.80681	0.4669	N	0.14661	0.345	0.52099	D	0.999941	D;D	0.71674	0.996;0.998	D;D	0.85130	0.99;0.997	T	0.83306	-0.0025	10	0.66056	D	0.02	.	19.0144	0.92888	0.0:1.0:0.0:0.0	.	143;143	B7Z5P1;Q8IYK8	.;REM2_HUMAN	D	143	ENSP00000267396:H143D;ENSP00000442774:H143D	ENSP00000267396:H143D	H	+	1	0	REM2	22424046	0.575000	0.26692	1.000000	0.80357	0.835000	0.47333	1.404000	0.34623	2.865000	0.98341	0.655000	0.94253	CAC	REM2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad		0.612	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM2	HGNC	protein_coding	OTTHUMT00000408290.1	C	NM_173527		23354206	+1	no_errors	ENST00000267396	ensembl	human	known	70_37	missense	SNP	1.000	G
REXO4	57109	genome.wustl.edu	37	9	136276150	136276150	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:136276150C>T	ENST00000371942.3	-	5	1153	c.954G>A	c.(952-954)ctG>ctA	p.L318L	REXO4_ENST00000478037.1_5'Flank|REXO4_ENST00000371935.2_Silent_p.L146L	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	318	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTCTGCCCTTCAGCATCTCTG	0.502																																																	0													191.0	143.0	159.0					9																	136276150		2203	4300	6503	SO:0001819	synonymous_variant	57109			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.954G>A	9.37:g.136276150C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L318	ENST00000371942.3	37	c.954	CCDS6969.1	9																																																																																			REXO4	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.502	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1	C			136276150	-1	no_errors	ENST00000371942	ensembl	human	known	70_37	silent	SNP	0.981	T
RHBDL2	54933	genome.wustl.edu	37	1	39361710	39361710	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:39361710G>C	ENST00000289248.2	-	5	1548	c.540C>G	c.(538-540)ctC>ctG	p.L180L	RHBDL2_ENST00000372990.1_Silent_p.L180L|RHBDL2_ENST00000372985.3_Silent_p.L260L|RHBDL2_ENST00000538156.1_Silent_p.L247L|RP5-864K19.4_ENST00000433671.2_RNA			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAAGATATCTGAGTGGGTCAA	0.438																																																	0													59.0	59.0	59.0					1																	39361710		2203	4300	6503	SO:0001819	synonymous_variant	54933			AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.540C>G	1.37:g.39361710G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.L260	ENST00000289248.2	37	c.780	CCDS30680.1	1																																																																																			RHBDL2	-	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met		0.438	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDL2	HGNC	protein_coding	OTTHUMT00000001216.1	G	NM_017821		39361710	-1	no_errors	ENST00000372985	ensembl	human	known	70_37	silent	SNP	0.986	C
RHBDL2	54933	genome.wustl.edu	37	1	39384655	39384655	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:39384655G>C	ENST00000289248.2	-	2	1238	c.230C>G	c.(229-231)tCc>tGc	p.S77C	RHBDL2_ENST00000372990.1_Missense_Mutation_p.S77C|RHBDL2_ENST00000372985.3_Missense_Mutation_p.S157C|RHBDL2_ENST00000538156.1_Missense_Mutation_p.S144C|RHBDL2_ENST00000540558.1_Missense_Mutation_p.S77C|RP5-864K19.4_ENST00000433671.2_RNA			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAGGCTGATGGAGATGATGAA	0.552																																																	0													125.0	123.0	123.0					1																	39384655		2203	4300	6503	SO:0001583	missense	54933			AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.230C>G	1.37:g.39384655G>C	ENSP00000289248:p.Ser77Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.S157C	ENST00000289248.2	37	c.470	CCDS30680.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634118	0.47049	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.73	2.45	0.29901	.	0.732493	0.13920	N	0.353648	T	0.11324	0.0276	L	0.44542	1.39	0.37300	D	0.908679	B;B;B	0.18968	0.032;0.01;0.002	B;B;B	0.12156	0.007;0.007;0.002	T	0.09079	-1.0691	10	0.35671	T	0.21	-12.5923	6.9563	0.24574	0.4095:0.0:0.5905:0.0	.	157;144;77	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	C	77;77;144;157;77	ENSP00000362081:S77C;ENSP00000289248:S77C;ENSP00000439227:S144C;ENSP00000362076:S157C;ENSP00000441097:S77C	ENSP00000289248:S77C	S	-	2	0	RHBDL2	39157242	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.457000	0.35212	0.752000	0.32923	0.561000	0.74099	TCC	RHBDL2	-	pirsf_Peptidase_S54_rhomboid_met		0.552	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDL2	HGNC	protein_coding	OTTHUMT00000001216.1	G	NM_017821		39384655	-1	no_errors	ENST00000372985	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	104513288	104513288	+	Silent	SNP	C	C	A	rs376250352		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:104513288C>A	ENST00000406091.3	+	1	174	c.174C>A	c.(172-174)ctC>ctA	p.L58L	RP11-1C8.4_ENST00000517376.1_RNA|RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	76	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			AGTCCGTGCTCAAGTAAGGAC	0.642										HNSCC(12;0.0054)																																							0													31.0	37.0	35.0					8																	104513288		1984	4140	6124	SO:0001819	synonymous_variant	9699			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		ENST00000406091.3:c.174C>A	8.37:g.104513288C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L58	ENST00000406091.3	37	c.174	CCDS55269.1	8																																																																																			RIMS2	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.642	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		C	NM_001100117		104513288	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	silent	SNP	1.000	A
RND1	27289	genome.wustl.edu	37	12	49254855	49254855	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:49254855C>G	ENST00000309739.5	-	4	508	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	126					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCAGGTCTGTCTTGCAGCCAA	0.552																																																	0													105.0	94.0	97.0					12																	49254855		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.378G>C	12.37:g.49254855C>G	ENSP00000308461:p.Lys126Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9P7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K126N	ENST00000309739.5	37	c.378	CCDS8771.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377711	0.82682	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	D;D	0.87887	-2.31;-2.31	5.66	3.85	0.44370	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95726	0.8770	10	0.87932	D	0	-1.11	11.999	0.53220	0.0:0.8564:0.0:0.1436	.	126	Q92730	RND1_HUMAN	N	20;126	ENSP00000447059:K20N;ENSP00000308461:K126N	ENSP00000308461:K126N	K	-	3	2	RND1	47541122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	0.869000	0.35703	0.655000	0.94253	AAG	RND1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	C	NM_014470		49254855	-1	no_errors	ENST00000309739	ensembl	human	known	70_37	missense	SNP	1.000	G
RND2	8153	genome.wustl.edu	37	17	41177998	41177998	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:41177998G>C	ENST00000587250.2	+	2	231	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	RND2_ENST00000544533.1_Missense_Mutation_p.E42Q			P52198	RND2_HUMAN	Rho family GTPase 2	42					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCGTGTTTGAGAACTACAC	0.542																																																	0													131.0	107.0	115.0					17																	41177998		2203	4300	6503	SO:0001583	missense	8153			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.124G>C	17.37:g.41177998G>C	ENSP00000466680:p.Glu42Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E42Q	ENST00000587250.2	37	c.124	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621210	0.87460	.	.	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.79554	-1.28	4.44	4.44	0.53790	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.88512	2.96	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93130	0.6532	10	0.87932	D	0	.	17.2588	0.87064	0.0:0.0:1.0:0.0	.	42	P52198	RND2_HUMAN	Q	42	ENSP00000439328:E42Q	ENSP00000225973:E42Q	E	+	1	0	RND2	38431524	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.161000	0.94739	2.303000	0.77524	0.650000	0.86243	GAG	RND2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.542	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2	G	NM_005440		41177998	+1	no_errors	ENST00000544533	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF145	153830	genome.wustl.edu	37	5	158584523	158584523	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:158584523G>C	ENST00000424310.2	-	0	3506				RNF145_ENST00000274542.2_3'UTR|RNF145_ENST00000519865.1_3'UTR|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGAATACCGAGGTCTGAAA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.*1155C>G	5.37:g.158584523G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z903|B7Z949|E7EVI7|Q8IVP7	RNA	SNP	-	NULL	ENST00000424310.2	37	NULL	CCDS56390.1	5																																																																																			RNF145	-	-		0.313	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	G	NM_144726		158584523	-1	no_errors	ENST00000518284	ensembl	human	known	70_37	rna	SNP	0.900	C
RNF212	285498	genome.wustl.edu	37	4	1084614	1084614	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:1084614G>C	ENST00000433731.2	-	4	320	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	RNF212_ENST00000382968.5_Missense_Mutation_p.Q87E			Q495C1	RN212_HUMAN	ring finger protein 212	87					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TGTTTTTCTTGAAATTCTAAA	0.403																																																	0													92.0	89.0	90.0					4																	1084614		2202	4299	6501	SO:0001583	missense	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.259C>G	4.37:g.1084614G>C	ENSP00000389709:p.Gln87Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	pfscan_Znf_RING	p.Q87E	ENST00000433731.2	37	c.259	CCDS46996.1	4	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599161	0.28534	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	D;D	0.98835	-5.17;-5.17	4.07	4.07	0.47477	.	.	.	.	.	D	0.98764	0.9584	M	0.73598	2.24	0.80722	D	1	D;D;D	0.61697	0.974;0.99;0.99	D;D;D	0.73380	0.953;0.98;0.971	D	0.98372	1.0554	9	0.46703	T	0.11	-0.4513	11.9435	0.52915	0.0:0.0:1.0:0.0	.	87;87;87	Q495C1-2;Q495C1;Q495C1-5	.;RN212_HUMAN;.	E	87	ENSP00000372428:Q87E;ENSP00000389709:Q87E	ENSP00000372428:Q87E	Q	-	1	0	RNF212	1074614	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	4.214000	0.58527	2.283000	0.76528	0.436000	0.28706	CAA	RNF212	-	NULL		0.403	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2	G	NM_194439		1084614	-1	no_errors	ENST00000433731	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF219	79596	genome.wustl.edu	37	13	79190976	79190976	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:79190976G>T	ENST00000282003.6	-	6	978	c.920C>A	c.(919-921)tCc>tAc	p.S307Y	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	307	Poly-Ser.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGAAGAACTGGAGGTGGATGA	0.517																																																	0													87.0	80.0	82.0					13																	79190976		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.920C>A	13.37:g.79190976G>T	ENSP00000282003:p.Ser307Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.S307Y	ENST00000282003.6	37	c.920	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	2.177	-0.388543	0.04932	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.94	1.08	0.20341	.	2.015180	0.02883	N	0.133053	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.19391	0.025	T	0.20538	-1.0272	9	0.66056	D	0.02	-30.515	3.9921	0.09541	0.3316:0.0:0.5136:0.1548	.	307	Q5W0B1	RN219_HUMAN	Y	307	.	ENSP00000282003:S307Y	S	-	2	0	RNF219	78088977	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	0.169000	0.16641	0.136000	0.18733	0.655000	0.94253	TCC	RNF219	-	NULL		0.517	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	G	NM_024546		79190976	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	missense	SNP	0.000	T
ROBO1	6091	genome.wustl.edu	37	3	78666904	78666904	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:78666904G>C	ENST00000464233.1	-	27	4276	c.4163C>G	c.(4162-4164)tCc>tGc	p.S1388C	ROBO1_ENST00000436010.2_Missense_Mutation_p.S1349C|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1343C|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1288C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1388					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTAACACTGGAGCGTCCGCT	0.587																																																	0													54.0	61.0	59.0					3																	78666904		1974	4140	6114	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4163C>G	3.37:g.78666904G>C	ENSP00000420321:p.Ser1388Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1388C	ENST00000464233.1	37	c.4163	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528475	0.64860	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.75367	-0.69;-0.73;-0.73;-0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	N	0.20685	0.6	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;1.0;0.998;0.999	D;P;D;P;D	0.83275	0.995;0.662;0.996;0.887;0.977	T	0.76214	-0.3041	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1352;1388;1343;1288;1349	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	C	1349;1343;1388;1343;1288;1392	ENSP00000406043:S1349C;ENSP00000420321:S1388C;ENSP00000420637:S1343C;ENSP00000417992:S1288C	.	S	-	2	0	ROBO1	78749594	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	9.420000	0.97426	2.838000	0.97847	0.591000	0.81541	TCC	ROBO1	-	NULL		0.587	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78666904	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	C
RPAP2	79871	genome.wustl.edu	37	1	92846426	92846426	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:92846426G>C	ENST00000610020.1	+	12	1943	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	612					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTGTTTACCAGAGTGGTAAGT	0.323																																																	0													104.0	101.0	102.0					1																	92846426		2203	4300	6503	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1834G>C	1.37:g.92846426G>C	ENSP00000476948:p.Glu612Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.E612Q	ENST00000610020.1	37	c.1834	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161525	0.21538	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.38	-0.85	0.10720	.	3.846920	0.01773	U	0.031260	T	0.04815	0.0130	N	0.08118	0	0.20307	N	0.999914	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	8	0.62326	D	0.03	.	1.524	0.02521	0.3939:0.1341:0.3343:0.1377	.	612	Q8IXW5	RPAP2_HUMAN	Q	612	.	ENSP00000359368:E612Q	E	+	1	0	RPAP2	92619014	0.000000	0.05858	0.005000	0.12908	0.032000	0.12392	0.008000	0.13197	-0.191000	0.10448	-0.827000	0.03088	GAG	RPAP2	-	NULL		0.323	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	G	NM_024813		92846426	+1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	0.001	C
RPGRIP1L	23322	genome.wustl.edu	37	16	53686744	53686744	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:53686744C>G	ENST00000379925.3	-	15	1905	c.1855G>C	c.(1855-1857)Gaa>Caa	p.E619Q	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E619Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E619Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E619Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	619	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTAAAACTTCAGAAGAAAAG	0.398																																																	0													69.0	69.0	69.0					16																	53686744		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1855G>C	16.37:g.53686744C>G	ENSP00000369257:p.Glu619Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E619Q	ENST00000379925.3	37	c.1855	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530058	0.45073	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.88431	-2.38;-2.38	5.45	5.45	0.79879	C2 calcium-dependent membrane targeting (1);	0.177737	0.47093	D	0.000246	D	0.85287	0.5662	L	0.48362	1.52	0.80722	D	1	B;B;B;B	0.29716	0.062;0.161;0.255;0.204	B;B;B;B	0.30105	0.052;0.082;0.082;0.111	D	0.84160	0.0428	10	0.59425	D	0.04	-13.6849	12.2726	0.54714	0.0:0.9218:0.0:0.0782	.	619;619;619;619	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	Q	619	ENSP00000369257:E619Q;ENSP00000262135:E619Q	ENSP00000262135:E619Q	E	-	1	0	RPGRIP1L	52244245	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	3.547000	0.53663	2.542000	0.85734	0.563000	0.77884	GAA	RPGRIP1L	-	pfam_DUF3250,smart_C2_Ca-dep		0.398	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	C	NM_015272		53686744	-1	no_errors	ENST00000379925	ensembl	human	known	70_37	missense	SNP	0.999	G
RPH3AL	9501	genome.wustl.edu	37	17	63648	63648	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:63648C>T	ENST00000331302.7	-	10	1250	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Missense_Mutation_p.G286S|RPH3AL_ENST00000323434.8_Missense_Mutation_p.G286S	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	315					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		ACACCTCAGCCCAGGCAGCTG	0.627																																																	0													21.0	26.0	24.0					17																	63648		2203	4299	6502	SO:0001583	missense	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.943G>A	17.37:g.63648C>T	ENSP00000328977:p.Gly315Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTG7|Q9BSB3	Missense_Mutation	SNP	pfam_Rabphilin3A_effector_Zn-bd,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.G315S	ENST00000331302.7	37	c.943	CCDS10994.1	17	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853594	0.51270	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	.	.	.	3.79	0.446	0.16602	.	0.171732	0.24156	U	0.041035	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.10450	0.005;0.002	T	0.18304	-1.0341	9	0.87932	D	0	.	7.3601	0.26742	0.0:0.553:0.3494:0.0976	.	286;315	Q9UNE2-2;Q9UNE2	.;RPH3L_HUMAN	S	315;286;286	.	ENSP00000319210:G315S	G	-	1	0	RPH3AL	63648	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.319000	0.08039	0.035000	0.15519	-0.321000	0.08615	GGC	RPH3AL	-	NULL		0.627	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPH3AL	HGNC	protein_coding	OTTHUMT00000206597.2	C	NM_006987		63648	-1	no_errors	ENST00000331302	ensembl	human	known	70_37	missense	SNP	0.006	T
RPS6KA3	6197	genome.wustl.edu	37	X	20185772	20185772	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:20185772C>T	ENST00000379565.3	-	17	1744	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E483K|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E484K|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E485K|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	513	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GCCTCTCGTTCAGAGAAAAAT	0.353																																																	0													169.0	174.0	173.0					X																	20185772		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1537G>A	X.37:g.20185772C>T	ENSP00000368884:p.Glu513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E513K	ENST00000379565.3	37	c.1537	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.552279	0.96501	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.92169	3.28	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	T	0.83251	-0.0053	10	0.87932	D	0	.	18.9908	0.92791	0.0:1.0:0.0:0.0	.	484;483;485;513	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	K	513;485;483;484	ENSP00000368884:E513K;ENSP00000440220:E485K;ENSP00000368865:E483K;ENSP00000444837:E484K	ENSP00000368865:E483K	E	-	1	0	RPS6KA3	20095693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GAA	RPS6KA3	-	pfam_Prot_kinase_cat_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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.353	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	C	NM_004586		20185772	-1	no_errors	ENST00000379565	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS6KA6	27330	genome.wustl.edu	37	X	83320049	83320049	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:83320049G>A	ENST00000262752.2	-	21	2049	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S681L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	681	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTTATCCATGAGTGCTTTAA	0.358																																																	0													194.0	166.0	175.0					X																	83320049		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2042C>T	X.37:g.83320049G>A	ENSP00000262752:p.Ser681Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S681L	ENST00000262752.2	37	c.2042	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113674	0.56398	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.38887	1.11;1.11	4.77	3.88	0.44766	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124647	0.56097	D	0.000027	T	0.41419	0.1158	L	0.39898	1.24	0.43988	D	0.996683	B;B	0.25312	0.095;0.123	B;B	0.35655	0.102;0.207	T	0.39542	-0.9609	10	0.72032	D	0.01	.	14.2826	0.66224	0.0:0.1461:0.8538:0.0	.	681;681	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	681	ENSP00000262752:S681L;ENSP00000440830:S681L	ENSP00000262752:S681L	S	-	2	0	RPS6KA6	83206705	1.000000	0.71417	0.991000	0.47740	0.934000	0.57294	7.074000	0.76791	0.883000	0.36040	0.600000	0.82982	TCA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	G	NM_014496		83320049	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	A
RRBP1	6238	genome.wustl.edu	37	20	17596576	17596576	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:17596576C>G	ENST00000377813.1	-	22	4249	c.3946G>C	c.(3946-3948)Gag>Cag	p.E1316Q	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Missense_Mutation_p.E883Q|RRBP1_ENST00000455029.2_Missense_Mutation_p.E657Q|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1316Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.E883Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1316					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTGACCTCCTCAAACTCGGCC	0.632																																																	0													70.0	55.0	60.0					20																	17596576		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3946G>C	20.37:g.17596576C>G	ENSP00000367044:p.Glu1316Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.E1316Q	ENST00000377813.1	37	c.3946		20	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780082	0.31502	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.17	3.2	0.36748	.	0.481208	0.15442	N	0.262129	T	0.25382	0.0617	N	0.20685	0.6	0.36501	D	0.869014	B;B	0.22276	0.003;0.067	B;B	0.17979	0.009;0.02	T	0.10847	-1.0612	10	0.42905	T	0.14	-28.2002	13.4457	0.61140	0.0:0.7178:0.2822:0.0	.	883;1316	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	Q	883;1316;883;1316;657	ENSP00000354045:E883Q;ENSP00000367044:E1316Q;ENSP00000367038:E883Q;ENSP00000246043:E1316Q;ENSP00000401206:E657Q	ENSP00000246043:E1316Q	E	-	1	0	RRBP1	17544576	0.956000	0.32656	0.997000	0.53966	0.909000	0.53808	1.485000	0.35519	0.566000	0.29273	0.556000	0.70494	GAG	RRBP1	-	NULL		0.632	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	C	NM_001042576		17596576	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	0.998	G
RRM2	6241	genome.wustl.edu	37	2	10263582	10263582	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:10263582C>T	ENST00000304567.5	+	3	312	c.243C>T	c.(241-243)gtC>gtT	p.V81V	RRM2_ENST00000360566.2_Silent_p.V141V|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	81					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	GCCGCTTTGTCATCTTCCCCA	0.527																																																	0													49.0	57.0	54.0					2																	10263582		2203	4300	6503	SO:0001819	synonymous_variant	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.243C>T	2.37:g.10263582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9B5|J3KP43|Q5WRU7	Silent	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.V141	ENST00000304567.5	37	c.423	CCDS1669.1	2																																																																																			RRM2	-	pfam_RNR_small,superfamily_Ferritin/RNR-like		0.527	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	HGNC	protein_coding	OTTHUMT00000364902.2	C			10263582	+1	no_errors	ENST00000360566	ensembl	human	known	70_37	silent	SNP	0.999	T
RTEL1	51750	genome.wustl.edu	37	20	62319733	62319733	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:62319733C>A	ENST00000360203.5	+	20	2041	c.1716C>A	c.(1714-1716)ttC>ttA	p.F572L	RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.F572L|RTEL1_ENST00000508582.2_Missense_Mutation_p.F596L|RTEL1_ENST00000370018.3_Missense_Mutation_p.F572L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.F572L					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCTGGAGTTCTGGCGGGTGC	0.637																																																	0													58.0	45.0	50.0					20																	62319733		2203	4290	6493	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1716C>A	20.37:g.62319733C>A	ENSP00000353332:p.Phe572Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.F572L	ENST00000360203.5	37	c.1716		20	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029488	0.35797	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905	T;T;T;T;D	0.91068	-0.41;-0.41;-0.41;-0.41;-2.78	4.73	4.73	0.59995	Helicase, ATP-dependent, c2 type (1);	0.317812	0.34986	N	0.003525	D	0.83746	0.5321	L	0.34521	1.04	0.46586	D	0.999113	P;P;B	0.39216	0.591;0.664;0.125	B;B;B	0.40329	0.312;0.326;0.103	T	0.79225	-0.1891	10	0.12430	T	0.62	-22.3103	9.4156	0.38519	0.0:0.8647:0.0:0.1353	.	596;572;572	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	L	572;572;596;572;14	ENSP00000359035:F572L;ENSP00000322287:F572L;ENSP00000424307:F596L;ENSP00000353332:F572L;ENSP00000388063:F14L	ENSP00000353332:F572L	F	+	3	2	AL353715.1	61790177	0.998000	0.40836	1.000000	0.80357	0.593000	0.36681	0.903000	0.28475	2.456000	0.83038	0.491000	0.48974	TTC	RTEL1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	C	NM_032957		62319733	+1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	1.000	A
RWDD2B	10069	genome.wustl.edu	37	21	30391662	30391662	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr21:30391662G>A	ENST00000493196.1	-	0	37				RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B											endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CTCAGCTGGCGACCTACCGGA	0.572																																																	0													30.0	28.0	29.0					21																	30391662		692	1591	2283	SO:0001623	5_prime_UTR_variant	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.-64C>T	21.37:g.30391662G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000493196.1	37	NULL	CCDS13582.1	21																																																																																			RWDD2B	-	-		0.572	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2B	HGNC	protein_coding	OTTHUMT00000171858.1	G			30391662	-1	no_errors	ENST00000286777	ensembl	human	known	70_37	rna	SNP	0.000	A
RXFP1	59350	genome.wustl.edu	37	4	159573124	159573124	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:159573124G>A	ENST00000307765.5	+	18	2442	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	RXFP1_ENST00000460056.2_Missense_Mutation_p.E650K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E626K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E698K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E683K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	731					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATGCCACCTGAGTTAATGAA	0.418																																																	0													118.0	112.0	114.0					4																	159573124		1891	4125	6016	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2191G>A	4.37:g.159573124G>A	ENSP00000303248:p.Glu731Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	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	p.E731K	ENST00000307765.5	37	c.2191	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199593	0.22121	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.70282	-0.3;-0.42;-0.27;-0.47;-0.41	5.75	2.13	0.27403	.	0.536026	0.20603	N	0.089101	T	0.50103	0.1596	L	0.31294	0.92	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002;0.001;0.002;0.001	T	0.26503	-1.0101	10	0.11182	T	0.66	.	5.8531	0.18704	0.3354:0.13:0.5345:0.0	.	742;758;626;683;698;650;601;731	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	K	650;731;626;683;698;601	ENSP00000423306:E650K;ENSP00000303248:E731K;ENSP00000414885:E626K;ENSP00000345889:E683K;ENSP00000420712:E698K	ENSP00000303248:E731K	E	+	1	0	RXFP1	159792574	0.002000	0.14202	0.013000	0.15412	0.580000	0.36256	0.908000	0.28545	0.081000	0.16988	-0.176000	0.13171	GAG	RXFP1	-	NULL		0.418	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159573124	+1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	0.011	A
RYR1	6261	genome.wustl.edu	37	19	38979846	38979846	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:38979846G>A	ENST00000359596.3	+	35	5577	c.5577G>A	c.(5575-5577)gtG>gtA	p.V1859V	RYR1_ENST00000360985.3_Silent_p.V1859V|RYR1_ENST00000355481.4_Silent_p.V1859V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1859	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGAGGATGTGAAACAGATCT	0.527																																																	0													135.0	113.0	121.0					19																	38979846		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5577G>A	19.37:g.38979846G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1859	ENST00000359596.3	37	c.5577	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.527	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38979846	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.887	A
RYR2	6262	genome.wustl.edu	37	1	237947390	237947390	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:237947390G>A	ENST00000366574.2	+	90	12695	c.12378G>A	c.(12376-12378)ctG>ctA	p.L4126L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.L4110L|RYR2_ENST00000360064.6_Silent_p.L4132L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4126					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)			AGAGCGTCCTGAATTATTTCC	0.512																																																	0													63.0	63.0	63.0					1																	237947390		1910	4136	6046	SO:0001819	synonymous_variant	6262			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.12378G>A	1.37:g.237947390G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	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_2,pfscan_MIR_motif	p.L4132	ENST00000366574.2	37	c.12396	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237947390	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.990	A
SCN9A	6335	genome.wustl.edu	37	2	167055379	167055379	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:167055379C>T	ENST00000409435.1	-	26	5769	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	SCN9A_ENST00000409672.1_Missense_Mutation_p.D1913N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1925N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D1925N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1924					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTAAATCATCATCTCTGTCT	0.363																																																	0													92.0	90.0	91.0					2																	167055379		1944	4156	6100	SO:0001583	missense	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5770G>A	2.37:g.167055379C>T	ENSP00000386330:p.Asp1924Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1925N	ENST00000409435.1	37	c.5773	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611466	0.28712	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.95885	-3.81;-3.84;-3.84;-3.84	5.74	5.74	0.90152	.	0.491897	0.17814	N	0.161106	D	0.92198	0.7526	L	0.31526	0.94	0.33740	D	0.619351	B	0.06786	0.001	B	0.06405	0.002	D	0.90055	0.4152	10	0.35671	T	0.21	.	17.7884	0.88545	0.0:1.0:0.0:0.0	.	1913	E7EUN6	.	N	1913;1925;1925;1924	ENSP00000386306:D1913N;ENSP00000364536:D1925N;ENSP00000304748:D1925N;ENSP00000386330:D1924N	ENSP00000304748:D1925N	D	-	1	0	SCN9A	166763625	0.995000	0.38212	1.000000	0.80357	0.710000	0.40934	1.003000	0.29809	2.885000	0.99019	0.579000	0.79373	GAT	SCN9A	-	NULL		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167055379	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	missense	SNP	1.000	T
SEC31A	22872	genome.wustl.edu	37	4	83802025	83802025	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:83802025C>T	ENST00000395310.2	-	3	312	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SEC31A_ENST00000443462.2_Missense_Mutation_p.E39K|SEC31A_ENST00000508479.1_Missense_Mutation_p.E44K|SEC31A_ENST00000508502.1_Missense_Mutation_p.E44K|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.E44K|SEC31A_ENST00000505472.1_Missense_Mutation_p.E44K|SEC31A_ENST00000513858.1_Missense_Mutation_p.E44K|SEC31A_ENST00000326950.5_Missense_Mutation_p.E44K|SEC31A_ENST00000509142.1_Missense_Mutation_p.E44K|SEC31A_ENST00000505984.1_Missense_Mutation_p.E44K|SEC31A_ENST00000348405.4_Missense_Mutation_p.E44K|SEC31A_ENST00000500777.2_Missense_Mutation_p.E44K|SEC31A_ENST00000311785.7_Missense_Mutation_p.E44K|SEC31A_ENST00000432794.1_Missense_Mutation_p.E44K|SEC31A_ENST00000448323.1_Missense_Mutation_p.E44K	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	44					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCAAATATCTCAAGGGAAGCA	0.353																																																	0													127.0	130.0	129.0					4																	83802025		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.130G>A	4.37:g.83802025C>T	ENSP00000378721:p.Glu44Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E44K	ENST00000395310.2	37	c.130	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.255336	0.95336	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000514326;ENST00000513323;ENST00000503210;ENST00000505434	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.94;0.85;1.83;1.77;0.73;1.66;1.83;0.94;0.73;0.53;0.85;1.86;1.83;1.95;1.87;1.27;1.29	4.41	4.41	0.53225	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.994;0.982;0.999;0.999;0.995	D;D;D;D;D;P;D;D;D	0.91635	0.999;0.998;0.991;0.997;0.966;0.877;0.976;0.996;0.925	D	0.84124	0.0408	10	0.52906	T	0.07	-17.7166	17.2009	0.86906	0.0:1.0:0.0:0.0	.	39;44;44;44;44;44;44;44;44	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	K	44;44;44;39;44;44;44;44;44;44;44;44;44;44;44;44;44;44;44	ENSP00000337602:E44K;ENSP00000426886:E44K;ENSP00000378721:E44K;ENSP00000408027:E39K;ENSP00000426569:E44K;ENSP00000407944:E44K;ENSP00000400926:E44K;ENSP00000325087:E44K;ENSP00000309070:E44K;ENSP00000421633:E44K;ENSP00000421464:E44K;ENSP00000424635:E44K;ENSP00000347329:E44K;ENSP00000424451:E44K;ENSP00000425999:E44K;ENSP00000425555:E44K;ENSP00000426950:E44K	ENSP00000309070:E44K	E	-	1	0	SEC31A	84021049	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.576000	0.82467	2.298000	0.77334	0.460000	0.39030	GAG	SEC31A	-	superfamily_WD40_repeat_dom		0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	C	NM_016211		83802025	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	T
SELP	6403	genome.wustl.edu	37	1	169560727	169560728	+	Intron	INS	-	-	AAAA	rs77862011|rs35706397|rs397942211|rs199781796	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:169560727_169560728insAAAA	ENST00000263686.6	-	15	2445				SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367788.2_Intron|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AATGAATGATTAAAAAAAAAAA	0.347																																																	0																																										SO:0001627	intron_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2408-33->TTTT	1.37:g.169560732_169560735dupAAAA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R344|Q8IVD1	RNA	INS	-	NULL	ENST00000263686.6	37	NULL	CCDS1282.1	1																																																																																			SELP	-	-		0.347	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	-	NM_003005		169560728	-1	no_errors	ENST00000466167	ensembl	human	known	70_37	rna	INS	0.003:0.079	AAAA
CIB1	10519	genome.wustl.edu	37	15	90771663	90771663	+	IGR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90771663G>C	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.E768Q|SEMA4B_ENST00000332496.6_Missense_Mutation_p.E768Q|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCTGCCCCCTGAGACCCGCCC	0.647																																																	0													32.0	35.0	34.0					15																	90771663		2009	4164	6173	SO:0001628	intergenic_variant	10509			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771663G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E768Q	ENST00000328649.6	37	c.2302	CCDS10360.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361393	0.82353	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	D;D	0.81499	-1.5;-1.5	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	D	0.89487	0.6729	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89176	0.3540	10	0.48119	T	0.1	.	18.239	0.89960	0.0:0.0:1.0:0.0	.	768;763	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	Q	768	ENSP00000332204:E768Q;ENSP00000394720:E768Q	ENSP00000332204:E768Q	E	+	1	0	SEMA4B	88572667	1.000000	0.71417	0.981000	0.43875	0.782000	0.44232	9.008000	0.93601	2.624000	0.88883	0.561000	0.74099	GAG	SEMA4B	-	NULL		0.647	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1	G			90771663	+1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	1.000	C
SETD5	55209	genome.wustl.edu	37	3	9512245	9512245	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:9512245G>C	ENST00000406341.1	+	18	3017	c.2827G>C	c.(2827-2829)Gac>Cac	p.D943H	SETD5_ENST00000402198.1_Missense_Mutation_p.D943H|SETD5_ENST00000407969.1_Missense_Mutation_p.D962H|SETD5_ENST00000402466.1_Missense_Mutation_p.D845H|SETD5_ENST00000302463.6_Missense_Mutation_p.D845H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	943										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGTCATTCTGACCTGGCTCC	0.512																																																	0													186.0	174.0	178.0					3																	9512245		1916	4137	6053	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2827G>C	3.37:g.9512245G>C	ENSP00000383939:p.Asp943His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.D943H	ENST00000406341.1	37	c.2827	CCDS46741.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.42|17.42	3.384852|3.384852	0.61956|0.61956	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.93247|.	-2.86;-3.19;-2.86;-2.85;-3.19|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.642863|.	0.15974|.	N|.	0.235617|.	T|.	0.55257|.	0.1909|.	N|N	0.24115|0.24115	0.695|0.695	0.36254|0.36254	D|D	0.854115|0.854115	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;P|.	0.78314|.	0.991;0.977;0.894|.	T|.	0.58498|.	-0.7626|.	10|.	0.48119|.	T|.	0.1|.	-14.1336|-14.1336	18.9705|18.9705	0.92713|0.92713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	612;845;943|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	H|S	943;845;943;962;845|610;273	ENSP00000385852:D943H;ENSP00000384429:D845H;ENSP00000383939:D943H;ENSP00000384114:D962H;ENSP00000302028:D845H|.	ENSP00000302028:D845H|.	D|X	+|+	1|2	0|2	SETD5|SETD5	9487245|9487245	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.538000|7.538000	0.82048|0.82048	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	GAC|TGA	SETD5	-	NULL		0.512	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	G	XM_371614		9512245	+1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	C
SENP7	57337	genome.wustl.edu	37	3	101044797	101044797	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:101044797C>T	ENST00000394095.2	-	24	3196	c.3143G>A	c.(3142-3144)aGc>aAc	p.S1048N	SENP7_ENST00000394094.2_Missense_Mutation_p.S983N|SENP7_ENST00000358203.3_Missense_Mutation_p.S884N|SENP7_ENST00000394091.1_Missense_Mutation_p.S884N|SENP7_ENST00000314261.7_Missense_Mutation_p.S982N|SENP7_ENST00000348610.3_Missense_Mutation_p.S1015N|SENP7_ENST00000394085.3_Missense_Mutation_p.S236N	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1048	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTAGCTACTGCTGCCCTTCTG	0.403																																																	0													160.0	143.0	149.0					3																	101044797		2203	4300	6503	SO:0001583	missense	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.3143G>A	3.37:g.101044797C>T	ENSP00000377655:p.Ser1048Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.S1048N	ENST00000394095.2	37	c.3143	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504313	0.26949	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.33216	2.02;2.03;2.04;2.03;2.03;1.42;2.02	5.41	5.41	0.78517	.	0.235944	0.46145	D	0.000315	T	0.28167	0.0695	L	0.53249	1.67	0.24052	N	0.996049	B;B;B;B;B	0.32365	0.319;0.173;0.367;0.108;0.011	B;B;B;B;B	0.29077	0.041;0.061;0.098;0.025;0.016	T	0.33599	-0.9862	10	0.72032	D	0.01	-2.4884	10.1318	0.42682	0.0:0.8504:0.0:0.1496	.	884;982;1015;1048;236	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	N	1048;983;982;884;884;236;1015	ENSP00000377655:S1048N;ENSP00000377654:S983N;ENSP00000313624:S982N;ENSP00000377651:S884N;ENSP00000350936:S884N;ENSP00000377647:S236N;ENSP00000342159:S1015N	ENSP00000313624:S982N	S	-	2	0	SENP7	102527487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.154000	0.31688	2.694000	0.91930	0.585000	0.79938	AGC	SENP7	-	NULL		0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	C	NM_020654		101044797	-1	no_errors	ENST00000394095	ensembl	human	known	70_37	missense	SNP	1.000	T
SFMBT2	57713	genome.wustl.edu	37	10	7218004	7218004	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:7218004C>T	ENST00000361972.4	-	17	2022	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	SFMBT2_ENST00000397167.1_Silent_p.L644L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	644					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTCAGATATCAGCACAGGAC	0.428																																																	0													193.0	189.0	191.0					10																	7218004		2203	4300	6503	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1932G>A	10.37:g.7218004C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.L644	ENST00000361972.4	37	c.1932	CCDS31138.1	10																																																																																			SFMBT2	-	pfam_DUF3588		0.428	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	C	NM_001029880		7218004	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	silent	SNP	0.981	T
SGSM3	27352	genome.wustl.edu	37	22	40801689	40801689	+	Missense_Mutation	SNP	G	G	A	rs547805871		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:40801689G>A	ENST00000248929.9	+	8	844	c.655G>A	c.(655-657)Gac>Aac	p.D219N	SGSM3_ENST00000454798.2_Missense_Mutation_p.D152N	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GGAGGAGGAGGACGCCTTCTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.0		0.0	False		,,,				2504	0.001																0													128.0	135.0	133.0					22																	40801689		2203	4300	6503	SO:0001583	missense	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.655G>A	22.37:g.40801689G>A	ENSP00000248929:p.Asp219Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.D219N	ENST00000248929.9	37	c.655	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326377	0.41197	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.05925	3.37;3.37;3.37	4.67	4.67	0.58626	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.62154	1.92	0.80722	D	1	B;B;B;B;B	0.31859	0.179;0.179;0.343;0.095;0.095	B;B;B;B;B	0.40477	0.33;0.33;0.211;0.111;0.111	T	0.03483	-1.1032	10	0.46703	T	0.11	.	17.9375	0.89017	0.0:0.0:1.0:0.0	.	156;152;219;219;219	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	N	152;219;162;152	ENSP00000399249:D152N;ENSP00000248929:D219N;ENSP00000390998:D152N	ENSP00000248929:D219N	D	+	1	0	SGSM3	39131635	1.000000	0.71417	0.976000	0.42696	0.144000	0.21451	9.400000	0.97290	2.329000	0.79093	0.313000	0.20887	GAC	SGSM3	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	G	NM_015705		40801689	+1	no_errors	ENST00000248929	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3RF2	153769	genome.wustl.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602																																																	0													39.0	42.0	41.0					5																	145379827		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.585C>G	5.37:g.145379827C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.L195	ENST00000511217.1	37	c.585	CCDS4280.1	5																																																																																			SH3RF2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.602	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	C	NM_152550		145379827	+1	no_errors	ENST00000359120	ensembl	human	known	70_37	silent	SNP	1.000	G
SHANK2	22941	genome.wustl.edu	37	11	70672691	70672691	+	5'Flank	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:70672691C>T	ENST00000423696.2	-	0	0				SHANK2_ENST00000468619.1_5'UTR|SHANK2_ENST00000338508.4_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCGGCCCCTCGGTGCTAGAG	0.597																																																	0																																										SO:0001631	upstream_gene_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615		11.37:g.70672691C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	RNA	SNP	-	NULL	ENST00000423696.2	37	NULL		11																																																																																			SHANK2	-	-		0.597	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		C	NM_012309		70672691	-1	no_errors	ENST00000468619	ensembl	human	known	70_37	rna	SNP	0.053	T
SHROOM3	57619	genome.wustl.edu	37	4	77661028	77661028	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:77661028G>C	ENST00000296043.6	+	5	2655	c.1702G>C	c.(1702-1704)Gat>Cat	p.D568H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	568					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAATGAGGAGGATGCCTCCCT	0.498																																																	0													181.0	176.0	178.0					4																	77661028		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1702G>C	4.37:g.77661028G>C	ENSP00000296043:p.Asp568His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D568H	ENST00000296043.6	37	c.1702	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118808	0.20877	.	.	ENSG00000138771	ENST00000296043	T	0.22539	1.95	5.07	4.2	0.49525	.	0.770796	0.11974	N	0.511460	T	0.29945	0.0749	L	0.57536	1.79	0.09310	N	1	P;D;D	0.57571	0.93;0.98;0.98	P;P;P	0.50231	0.459;0.635;0.635	T	0.10660	-1.0620	10	0.59425	D	0.04	-10.7885	9.4848	0.38922	0.1866:0.0:0.8134:0.0	.	392;568;346	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	568	ENSP00000296043:D568H	ENSP00000296043:D568H	D	+	1	0	SHROOM3	77880052	0.087000	0.21565	0.926000	0.36857	0.185000	0.23345	1.032000	0.30178	2.622000	0.88805	0.563000	0.77884	GAT	SHROOM3	-	NULL		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77661028	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.000	C
SIGLEC1	6614	genome.wustl.edu	37	20	3677876	3677876	+	Nonsense_Mutation	SNP	G	G	A	rs200143991		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:3677876G>A	ENST00000344754.4	-	9	2235	c.2236C>T	c.(2236-2238)Cga>Tga	p.R746*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.R746*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	746	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R746*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCCATTTCGGAACCAGGAG	0.602																																																	1	Substitution - Nonsense(1)	endometrium(1)						G	stop/ARG	0,4406		0,0,2203	84.0	83.0	83.0		2236	5.3	1.0	20		83	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	SIGLEC1	NM_023068.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		746/1710	3677876	2,13004	2203	4300	6503	SO:0001587	stop_gained	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2236C>T	20.37:g.3677876G>A	ENSP00000341141:p.Arg746*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R746*	ENST00000344754.4	37	c.2236	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	40	7.968970	0.98588	0.0	2.33E-4	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.31	5.31	0.75309	.	0.204155	0.24759	N	0.035825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.3373	0.66600	0.0:0.0:1.0:0.0	.	.	.	.	X	746	.	ENSP00000202578:R746X	R	-	1	2	SIGLEC1	3625876	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	3.391000	0.52530	2.759000	0.94783	0.561000	0.74099	CGA	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3677876	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SIMC1	375484	genome.wustl.edu	37	5	175772332	175772332	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:175772332G>A	ENST00000443967.1	+	12	2910	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'Flank|SIMC1_ENST00000430704.2_Missense_Mutation_p.E420K|SIMC1_ENST00000332772.4_Missense_Mutation_p.E296K|SIMC1_ENST00000341199.6_Missense_Mutation_p.E420K			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	835							SUMO polymer binding (GO:0032184)										GATGCTGGGGGAGCCTCTTGT	0.537																																																	0													72.0	73.0	73.0					5																	175772332		2203	4300	6503	SO:0001583	missense	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2503G>A	5.37:g.175772332G>A	ENSP00000406571:p.Glu835Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.E835K	ENST00000443967.1	37	c.2503		5	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385300	0.61956	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.32753	1.87;1.87;2.14;1.44	5.44	4.53	0.55603	.	0.179201	0.36101	N	0.002796	T	0.46092	0.1375	L	0.50333	1.59	0.80722	D	1	P;P;D	0.67145	0.728;0.939;0.996	B;P;D	0.76071	0.275;0.554;0.987	T	0.22977	-1.0201	10	0.49607	T	0.09	-13.8242	10.7833	0.46390	0.0:0.1396:0.7157:0.1447	.	296;420;835	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	K	420;420;835;296	ENSP00000342075:E420K;ENSP00000409287:E420K;ENSP00000406571:E835K;ENSP00000331311:E296K	ENSP00000331311:E296K	E	+	1	0	C5orf25	175704938	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.398000	0.20899	2.831000	0.97527	0.650000	0.86243	GAG	SIMC1	-	NULL		0.537	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	G	NM_198567		175772332	+1	no_errors	ENST00000443967	ensembl	human	known	70_37	missense	SNP	1.000	A
SIPA1L3	23094	genome.wustl.edu	37	19	38572047	38572047	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:38572047G>A	ENST00000222345.6	+	0	351				SIPA1L3_ENST00000476317.2_3'UTR	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3						hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGATGGTGGAGAACTGGACTC	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.-159G>A	19.37:g.38572047G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV87	RNA	SNP	-	NULL	ENST00000222345.6	37	NULL	CCDS33007.1	19																																																																																			SIPA1L3	-	-		0.622	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38572047	+1	no_errors	ENST00000476317	ensembl	human	known	70_37	rna	SNP	0.998	A
SIRT7	51547	genome.wustl.edu	37	17	79870304	79870304	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:79870304C>G	ENST00000328666.6	-	10	1253	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000571105.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	397					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACGTCACTTTCTTCCTTTTTG	0.607																																																	0													161.0	139.0	146.0					17																	79870304		2203	4300	6503	SO:0001583	missense	51547			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.1191G>C	17.37:g.79870304C>G	ENSP00000329466:p.Lys397Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.K397N	ENST00000328666.6	37	c.1191	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629344	0.46944	.	.	ENSG00000187531	ENST00000328666	T	0.36157	1.27	4.74	1.33	0.21861	.	0.179198	0.47093	D	0.000241	T	0.28001	0.0690	L	0.50333	1.59	0.54753	D	0.999983	P;B	0.41313	0.745;0.241	B;B	0.37346	0.247;0.092	T	0.06991	-1.0796	10	0.72032	D	0.01	-12.6684	7.4061	0.26991	0.0:0.6114:0.0:0.3886	.	397;397	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	N	397	ENSP00000329466:K397N	ENSP00000329466:K397N	K	-	3	2	SIRT7	77463596	0.989000	0.36119	0.967000	0.41034	0.945000	0.59286	0.763000	0.26517	0.552000	0.29026	0.491000	0.48974	AAG	SIRT7	-	NULL		0.607	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	C	NM_016538		79870304	-1	no_errors	ENST00000328666	ensembl	human	known	70_37	missense	SNP	1.000	G
SLAIN1	122060	genome.wustl.edu	37	13	78320653	78320653	+	Silent	SNP	C	C	T	rs376535190		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:78320653C>T	ENST00000466548.1	+	5	881	c.855C>T	c.(853-855)ctC>ctT	p.L285L	SLAIN1_ENST00000351546.3_Silent_p.L22L|SLAIN1_ENST00000418532.1_Silent_p.L66L|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000358679.3_Silent_p.L22L|SLAIN1_ENST00000267219.8_Silent_p.L66L|SLAIN1_ENST00000488699.1_Silent_p.L143L	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	285										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTATAGGTCTCAGGCAAGATT	0.308																																																	0								C	,,,,,	0,4406		0,0,2203	68.0	64.0	65.0		429,921,,,63,66	5.1	1.0	13		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	SLAIN1	NM_001040153.3,NM_001242868.1,NM_001242869.1,NM_001242870.1,NM_001242871.1,NM_144595.3	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	143/427,307/591,,,21/305,22/306	78320653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122060			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.855C>T	13.37:g.78320653C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	NULL	p.L285	ENST00000466548.1	37	c.855		13																																																																																			SLAIN1	-	NULL		0.308	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	HGNC	protein_coding	OTTHUMT00000355018.1	C	NM_144595		78320653	+1	no_errors	ENST00000466548	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC20A2	6575	genome.wustl.edu	37	8	42286294	42286294	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:42286294G>T	ENST00000342228.3	-	10	2145	c.1776C>A	c.(1774-1776)gtC>gtA	p.V592V	SLC20A2_ENST00000520262.1_Silent_p.V592V|SLC20A2_ENST00000520179.1_Silent_p.V592V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	592					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGTGGTGCTGACTGGAAGCC	0.652																																																	0													52.0	42.0	45.0					8																	42286294		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1776C>A	8.37:g.42286294G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Phos_transporter	p.V592	ENST00000342228.3	37	c.1776	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter		0.652	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	G			42286294	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC27A3	11000	genome.wustl.edu	37	1	153750818	153750818	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:153750818C>A	ENST00000368661.3	+	5	1549	c.1484C>A	c.(1483-1485)tCc>tAc	p.S495Y	SLC27A3_ENST00000271857.2_Missense_Mutation_p.S576Y|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	495					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGTGCTTCCTGGCTTTAC	0.602																																																	0													68.0	70.0	69.0					1																	153750818		2203	4300	6503	SO:0001583	missense	11000			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1484C>A	1.37:g.153750818C>A	ENSP00000357650:p.Ser495Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S495Y	ENST00000368661.3	37	c.1484	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542319|3.542319	0.65198|0.65198	.|.	.|.	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661;ENST00000532853	.|T;T;T	.|0.59502	.|0.26;0.27;0.76	5.28|5.28	5.28|5.28	0.74379|0.74379	.|AMP-dependent synthetase/ligase (1);	.|0.136301	.|0.49916	.|D	.|0.000121	T|T	0.70971|0.70971	0.3285|0.3285	M|M	0.86343|0.86343	2.81|2.81	0.28869|0.28869	N|N	0.895087|0.895087	.|D	.|0.71674	.|0.998	.|D	.|0.72982	.|0.979	T|T	0.68652|0.68652	-0.5352|-0.5352	5|10	.|0.72032	.|D	.|0.01	-32.8131|-32.8131	12.0219|12.0219	0.53348|0.53348	0.0:0.8264:0.1735:0.0|0.0:0.8264:0.1735:0.0	.|.	.|495	.|Q5K4L6	.|S27A3_HUMAN	T|Y	200|576;495;49	.|ENSP00000271857:S576Y;ENSP00000357650:S495Y;ENSP00000433959:S49Y	.|ENSP00000271857:S576Y	P|S	+|+	1|2	0|0	SLC27A3|SLC27A3	152017442|152017442	0.018000|0.018000	0.18449|0.18449	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.145000|0.145000	0.16157|0.16157	2.747000|2.747000	0.94245|0.94245	0.462000|0.462000	0.41574|0.41574	CCT|TCC	SLC27A3	-	pfam_AMP-dep_Synth/Lig		0.602	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding		C	NM_024330		153750818	+1	no_errors	ENST00000368661	ensembl	human	known	70_37	missense	SNP	0.994	A
SLC28A1	9154	genome.wustl.edu	37	15	85438326	85438326	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85438326C>T	ENST00000286749.3	+	5	523	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	SLC28A1_ENST00000537703.1_Missense_Mutation_p.H67Y|SLC28A1_ENST00000538177.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000537216.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000394573.1_Missense_Mutation_p.H145Y|SLC28A1_ENST00000338602.2_Missense_Mutation_p.H145Y|SLC28A1_ENST00000537624.1_Missense_Mutation_p.H145Y			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	145					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCCTCAGGGCCATCCCCGCCT	0.622																																																	0													44.0	46.0	45.0					15																	85438326		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.433C>T	15.37:g.85438326C>T	ENSP00000286749:p.His145Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.H145Y	ENST00000286749.3	37	c.433	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.428659	0.01117	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.58	2.49	0.30216	.	0.487934	0.23620	N	0.046251	D	0.85318	0.5669	M	0.67953	2.075	0.09310	N	1	P;P;P;P;B;D	0.76494	0.58;0.676;0.88;0.708;0.437;0.999	B;B;B;B;B;D	0.64877	0.222;0.395;0.424;0.177;0.222;0.93	T	0.75797	-0.3191	10	0.59425	D	0.04	-1.0436	9.1251	0.36810	0.5416:0.4584:0.0:0.0	.	145;145;145;67;145;145	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	Y	145;145;145;145;145;145;67	ENSP00000341629:H145Y;ENSP00000440546:H145Y;ENSP00000443752:H145Y;ENSP00000444700:H145Y;ENSP00000286749:H145Y;ENSP00000378074:H145Y;ENSP00000443764:H67Y	ENSP00000286749:H145Y	H	+	1	0	SLC28A1	83239330	0.001000	0.12720	0.033000	0.17914	0.033000	0.12548	0.703000	0.25646	0.544000	0.28883	0.655000	0.94253	CAT	SLC28A1	-	NULL		0.622	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	C			85438326	+1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	0.019	T
SLC28A1	9154	genome.wustl.edu	37	15	85476463	85476463	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:85476463G>A	ENST00000286749.3	+	12	1261	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E391K|SLC28A1_ENST00000394573.1_Missense_Mutation_p.E391K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E391K			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	391					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGAGGTGGAGGAGTCCAAGTT	0.577																																																	0													128.0	107.0	114.0					15																	85476463		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1171G>A	15.37:g.85476463G>A	ENSP00000286749:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.E391K	ENST00000286749.3	37	c.1171	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741683	0.15642	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.39	2.47	0.30058	Na dependent nucleoside transporter, C-terminal (1);	0.160820	0.53938	N	0.000044	T	0.07908	0.0198	L	0.33753	1.03	0.80722	D	1	B;B;B	0.22541	0.071;0.003;0.071	B;B;B	0.37888	0.173;0.03;0.26	T	0.19386	-1.0307	10	0.10377	T	0.69	-9.1211	8.7315	0.34503	0.1933:0.0:0.8067:0.0	.	391;391;391	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	K	391	ENSP00000440546:E391K;ENSP00000444700:E391K;ENSP00000286749:E391K;ENSP00000378074:E391K	ENSP00000286749:E391K	E	+	1	0	SLC28A1	83277467	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.637000	0.54324	1.065000	0.40693	-0.262000	0.10625	GAG	SLC28A1	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.577	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	G			85476463	+1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC38A1	81539	genome.wustl.edu	37	12	46591766	46591766	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:46591766G>C	ENST00000398637.5	-	15	1894	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	SLC38A1_ENST00000439706.1_Silent_p.L400L|SLC38A1_ENST00000552197.1_Silent_p.L400L|SLC38A1_ENST00000549049.1_Silent_p.L400L|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000546893.1_Silent_p.L400L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	400					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TAACAACCAAGAGTATGCAGG	0.373																																																	0													117.0	110.0	112.0					12																	46591766		1903	4127	6030	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1200C>G	12.37:g.46591766G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	pfam_AA_transpt_TM	p.L400	ENST00000398637.5	37	c.1200	CCDS41774.1	12																																																																																			SLC38A1	-	pfam_AA_transpt_TM		0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	G			46591766	-1	no_errors	ENST00000398637	ensembl	human	known	70_37	silent	SNP	0.999	C
SLC38A4	55089	genome.wustl.edu	37	12	47186809	47186809	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:47186809C>T	ENST00000447411.1	-	2	252	c.46G>A	c.(46-48)Gag>Aag	p.E16K	SLC38A4_ENST00000266579.4_Missense_Mutation_p.E16K	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	16					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGCTGCTCTCATCATCTGGT	0.438																																																	0													224.0	196.0	205.0					12																	47186809		2203	4300	6503	SO:0001583	missense	55089			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.46G>A	12.37:g.47186809C>T	ENSP00000389843:p.Glu16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E16K	ENST00000447411.1	37	c.46	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533586	0.45073	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	T;T;T;T	0.24538	3.66;3.66;2.18;1.85	5.39	3.46	0.39613	.	2.130700	0.02557	N	0.096264	T	0.22126	0.0533	L	0.29908	0.895	0.37657	D	0.922611	B	0.06786	0.001	B	0.04013	0.001	T	0.14062	-1.0486	10	0.14656	T	0.56	-9.6828	11.5494	0.50713	0.0:0.7011:0.2258:0.0731	.	16	Q969I6	S38A4_HUMAN	K	16	ENSP00000389843:E16K;ENSP00000266579:E16K;ENSP00000450071:E16K;ENSP00000448543:E16K	ENSP00000266579:E16K	E	-	1	0	SLC38A4	45473076	0.995000	0.38212	0.870000	0.34147	0.966000	0.64601	3.213000	0.51153	2.535000	0.85469	0.591000	0.81541	GAG	SLC38A4	-	NULL		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	C			47186809	-1	no_errors	ENST00000266579	ensembl	human	known	70_37	missense	SNP	0.906	T
SLC5A6	8884	genome.wustl.edu	37	2	27424683	27424683	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:27424683G>C	ENST00000310574.3	-	14	1868	c.1395C>G	c.(1393-1395)gtC>gtG	p.V465V	SLC5A6_ENST00000408041.1_Silent_p.V465V|SLC5A6_ENST00000461319.1_5'UTR	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	465					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGAAGGCCATGACGAGCCCAG	0.627																																																	0													87.0	72.0	77.0					2																	27424683		2203	4300	6503	SO:0001819	synonymous_variant	8884			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1395C>G	2.37:g.27424683G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB85|D6W549|Q969Y5	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V465	ENST00000310574.3	37	c.1395	CCDS1740.1	2																																																																																			SLC5A6	-	pfscan_Na/solute_symporter		0.627	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	G	NM_021095		27424683	-1	no_errors	ENST00000310574	ensembl	human	known	70_37	silent	SNP	0.994	C
SLIT1	6585	genome.wustl.edu	37	10	98823227	98823227	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:98823227C>T	ENST00000266058.4	-	8	1023	c.778G>A	c.(778-780)Gag>Aag	p.E260K	SLIT1_ENST00000371070.4_Missense_Mutation_p.E260K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.E260K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	260	LRRCT 1.				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)		CAGCTGAACTCACTCTTCTGG	0.637																																																	0													27.0	29.0	29.0					10																	98823227		2203	4298	6501	SO:0001583	missense	6585			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.778G>A	10.37:g.98823227C>T	ENSP00000266058:p.Glu260Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	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,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.E260K	ENST00000266058.4	37	c.778	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042384	0.93685	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.13	4.13	0.48395	Cysteine-rich flanking region, C-terminal (2);	0.057241	0.64402	D	0.000002	D	0.89269	0.6667	M	0.71296	2.17	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.61477	0.889;0.672	D	0.90817	0.4706	10	0.66056	D	0.02	.	16.5707	0.84612	0.0:1.0:0.0:0.0	.	260;260	E7EWQ8;O75093	.;SLIT1_HUMAN	K	260;260;236;260;243;236;260	ENSP00000266058:E260K;ENSP00000360109:E260K;ENSP00000315005:E243K;ENSP00000360080:E260K	ENSP00000266058:E260K	E	-	1	0	SLIT1	98813217	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.644000	0.83416	2.122000	0.65172	0.549000	0.68633	GAG	SLIT1	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	C	NM_003061		98823227	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	missense	SNP	1.000	T
SLITRK5	26050	genome.wustl.edu	37	13	88329806	88329806	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652																																																	0													42.0	50.0	47.0					13																	88329806		2202	4294	6496	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2163C>T	13.37:g.88329806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G721	ENST00000325089.6	37	c.2163	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	C			88329806	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.564	T
SLX4IP	128710	genome.wustl.edu	37	20	10603872	10603872	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:10603872G>A	ENST00000334534.5	+	8	1252	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	358																	GTCTAAGGAAGAGTTGCATGT	0.433																																																	0													58.0	65.0	63.0					20																	10603872		2203	4300	6503	SO:0001583	missense	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1072G>A	20.37:g.10603872G>A	ENSP00000335557:p.Glu358Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.E358K	ENST00000334534.5	37	c.1072	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047546	0.55110	.	.	ENSG00000149346	ENST00000334534	T	0.52754	0.65	5.57	5.57	0.84162	.	0.075783	0.50627	D	0.000115	T	0.48642	0.1511	L	0.56769	1.78	0.37047	D	0.897429	P	0.46277	0.875	P	0.44394	0.448	T	0.56329	-0.7997	10	0.44086	T	0.13	-10.8728	13.4021	0.60889	0.0746:0.0:0.9254:0.0	.	358	Q5VYV7	CT094_HUMAN	K	358	ENSP00000335557:E358K	ENSP00000335557:E358K	E	+	1	0	C20orf94	10551872	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.163000	0.50763	2.788000	0.95919	0.650000	0.86243	GAG	SLX4IP	-	NULL		0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	G	NM_001009608		10603872	+1	no_errors	ENST00000334534	ensembl	human	known	70_37	missense	SNP	1.000	A
SLX4IP	128710	genome.wustl.edu	37	20	10603903	10603903	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:10603903G>A	ENST00000334534.5	+	8	1283	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	368																	CTCTCCTCCAGACATCTTATG	0.428																																																	0													53.0	59.0	57.0					20																	10603903		2203	4300	6503	SO:0001583	missense	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1103G>A	20.37:g.10603903G>A	ENSP00000335557:p.Arg368Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.R368K	ENST00000334534.5	37	c.1103	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714544	0.48622	.	.	ENSG00000149346	ENST00000334534	T	0.58652	0.32	5.33	2.27	0.28462	.	0.267612	0.34460	N	0.003954	T	0.44052	0.1275	L	0.40543	1.245	0.23909	N	0.996499	B	0.15141	0.012	B	0.16289	0.015	T	0.30909	-0.9962	10	0.38643	T	0.18	-1.0154	8.0779	0.30726	0.0722:0.0:0.6449:0.2829	.	368	Q5VYV7	CT094_HUMAN	K	368	ENSP00000335557:R368K	ENSP00000335557:R368K	R	+	2	0	C20orf94	10551903	0.992000	0.36948	0.995000	0.50966	0.978000	0.69477	0.479000	0.22228	0.318000	0.23185	0.650000	0.86243	AGA	SLX4IP	-	NULL		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	G	NM_001009608		10603903	+1	no_errors	ENST00000334534	ensembl	human	known	70_37	missense	SNP	0.992	A
SMC4	10051	genome.wustl.edu	37	3	160150959	160150959	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:160150959G>C	ENST00000357388.3	+	23	4127	c.3676G>C	c.(3676-3678)Gat>Cat	p.D1226H	TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D1226H|SMC4_ENST00000469762.1_Missense_Mutation_p.D1201H|SMC4_ENST00000462787.1_Missense_Mutation_p.D1168H|SMC4_ENST00000360111.2_Missense_Mutation_p.D1168H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1226	Ala/Asp-rich (DA-box).				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCAGCCCTTGATTTTAAAAA	0.363																																																	0													138.0	135.0	136.0					3																	160150959		2203	4300	6503	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3676G>C	3.37:g.160150959G>C	ENSP00000349961:p.Asp1226His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.D1226H	ENST00000357388.3	37	c.3676	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020924	0.93462	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.83	5.83	0.93111	RecF/RecN/SMC (1);	0.094982	0.64402	D	0.000001	D	0.95943	0.8679	H	0.95294	3.65	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	0.96513	0.9380	10	0.87932	D	0	-33.7955	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1168;1201;1201;1226	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	1226;1168;1201;1168;1226;820	ENSP00000349961:D1226H;ENSP00000353225:D1168H;ENSP00000417964:D1201H;ENSP00000420734:D1168H;ENSP00000341382:D1226H	ENSP00000341382:D1226H	D	+	1	0	SMC4	161633653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.770000	0.95276	0.655000	0.94253	GAT	SMC4	-	pfam_RecF/RecN/SMC		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	G			160150959	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	missense	SNP	1.000	C
SMG5	23381	genome.wustl.edu	37	1	156238112	156238112	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:156238112C>T	ENST00000361813.5	-	8	952	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SMG5_ENST00000368267.5_Missense_Mutation_p.E270K|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	270					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCGAGTCTCACACTTCTTC	0.532																																																	0													259.0	254.0	256.0					1																	156238112		2203	4300	6503	SO:0001583	missense	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.808G>A	1.37:g.156238112C>T	ENSP00000355261:p.Glu270Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.E270K	ENST00000361813.5	37	c.808	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000054	0.74818	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.33865	1.39;1.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.39020	1.185	0.80722	D	1	B	0.26258	0.145	B	0.34346	0.18	T	0.03148	-1.1067	10	0.36615	T	0.2	-34.7524	18.1308	0.89600	0.0:1.0:0.0:0.0	.	270	Q9UPR3	SMG5_HUMAN	K	270	ENSP00000355261:E270K;ENSP00000357250:E270K	ENSP00000355261:E270K	E	-	1	0	SMG5	154504736	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.271000	0.78506	2.865000	0.98341	0.655000	0.94253	GAG	SMG5	-	NULL		0.532	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	C	NM_015327		156238112	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	missense	SNP	1.000	T
SMURF1	57154	genome.wustl.edu	37	7	98638144	98638144	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:98638144G>A	ENST00000361125.1	-	14	1804	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SMURF1_ENST00000361368.2_Silent_p.I469I|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	495	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCAGCCCCATGATCCGCCCCA	0.562											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	85.0	87.0					7																	98638144		2203	4300	6503	SO:0001819	synonymous_variant	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1485C>T	7.37:g.98638144G>A		Somatic	1337	WXS	Illumina HiSeq	Phase_IV	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.I495	ENST00000361125.1	37	c.1485	CCDS34690.1	7																																																																																			SMURF1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.562	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	G	NM_020429		98638144	-1	no_errors	ENST00000361125	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA1731	85459	genome.wustl.edu	37	11	93464199	93464199	+	IGR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:93464199G>A	ENST00000325212.6	+	0	8055				SNORA1_ENST00000384107.1_RNA|SNORA8_ENST00000384574.1_RNA|SNORA18_ENST00000384416.1_RNA|SNORA25_ENST00000384384.1_RNA|SNORD6_ENST00000365444.1_RNA|TAF1D_ENST00000546088.1_Intron|SNORD5_ENST00000459342.1_RNA|SNORA32_ENST00000384072.1_RNA|MIR1304_ENST00000408243.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACCTACTGGGAAATTTTTTT	0.338																																																	0													143.0	142.0	143.0					11																	93464199		874	1989	2863	SO:0001628	intergenic_variant	692063			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449		11.37:g.93464199G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	SNP	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			SNORA32	-	-		0.338	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SNORA32	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93464199	-1	no_errors	ENST00000384072	ensembl	human	known	70_37	rna	SNP	0.531	A
SNTB2	6645	genome.wustl.edu	37	16	69294158	69294158	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:69294158G>A	ENST00000336278.4	+	3	1038	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	334	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CTGGCTGGCAGAACAGGTAGG	0.517																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													95.0	76.0	83.0					16																	69294158		2198	4300	6498	SO:0001583	missense	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1000G>A	16.37:g.69294158G>A	ENSP00000338191:p.Glu334Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BY09	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E334K	ENST00000336278.4	37	c.1000	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.091056	0.94149	.	.	ENSG00000168807	ENST00000336278	T	0.57273	0.41	5.12	5.12	0.69794	Pleckstrin homology domain (2);	0.153579	0.56097	N	0.000022	T	0.73329	0.3573	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74788	-0.3546	10	0.51188	T	0.08	-12.3261	18.5196	0.90947	0.0:0.0:1.0:0.0	.	334	Q13425	SNTB2_HUMAN	K	334	ENSP00000338191:E334K	ENSP00000338191:E334K	E	+	1	0	SNTB2	67851659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.525000	0.85131	0.655000	0.94253	GAA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.517	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	G			69294158	+1	no_errors	ENST00000336278	ensembl	human	known	70_37	missense	SNP	1.000	A
SNX33	257364	genome.wustl.edu	37	15	75941967	75941967	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:75941967G>A	ENST00000308527.5	+	1	1721	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	175					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCTGCCAAGCGAGGCAGTGTG	0.617																																																	0													60.0	61.0	60.0					15																	75941967		2197	4294	6491	SO:0001583	missense	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.524G>A	15.37:g.75941967G>A	ENSP00000311427:p.Arg175Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1NM17	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.R175Q	ENST00000308527.5	37	c.524	CCDS10283.1	15	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888263	0.52014	.	.	ENSG00000173548	ENST00000308527	T	0.64260	-0.09	5.11	4.19	0.49359	.	0.237778	0.38111	N	0.001812	T	0.42698	0.1214	L	0.39898	1.24	0.44539	D	0.997496	P	0.44006	0.824	B	0.25405	0.06	T	0.41840	-0.9486	10	0.11794	T	0.64	-0.144	13.8991	0.63792	0.0:0.0:0.8467:0.1533	.	175	Q8WV41	SNX33_HUMAN	Q	175	ENSP00000311427:R175Q	ENSP00000311427:R175Q	R	+	2	0	SNX33	73729022	1.000000	0.71417	0.893000	0.35052	0.996000	0.88848	7.091000	0.76923	1.370000	0.46153	0.650000	0.86243	CGA	SNX33	-	pirsf_Snx9		0.617	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1	G	NM_153271		75941967	+1	no_errors	ENST00000308527	ensembl	human	known	70_37	missense	SNP	0.996	A
SNX5	27131	genome.wustl.edu	37	20	17922931	17922931	+	3'UTR	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:17922931T>C	ENST00000377768.3	-	0	1597				SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_3'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCTTCCGTGGTAATGATTTAA	0.289																																																	0													105.0	72.0	82.0					20																	17922931		692	1591	2283	SO:0001624	3_prime_UTR_variant	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.*70A>G	20.37:g.17922931T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	RNA	SNP	-	NULL	ENST00000377768.3	37	NULL	CCDS13130.1	20																																																																																			SNX5	-	-		0.289	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	T			17922931	-1	no_errors	ENST00000476648	ensembl	human	known	70_37	rna	SNP	0.998	C
SORBS1	10580	genome.wustl.edu	37	10	97158831	97158831	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:97158831C>T	ENST00000361941.3	-	10	1127	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	SORBS1_ENST00000371246.2_Silent_p.V367V|SORBS1_ENST00000393949.1_Silent_p.V358V|SORBS1_ENST00000353505.5_Silent_p.V298V|SORBS1_ENST00000371227.4_Silent_p.V367V|SORBS1_ENST00000277982.5_Silent_p.V367V|SORBS1_ENST00000607232.1_Silent_p.V202V|SORBS1_ENST00000347291.4_Silent_p.V235V|SORBS1_ENST00000371247.2_Silent_p.V367V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Silent_p.V212V|SORBS1_ENST00000371249.2_Silent_p.V335V|SORBS1_ENST00000306402.6_Silent_p.V244V|SORBS1_ENST00000354106.3_Silent_p.V358V|SORBS1_ENST00000371245.3_Silent_p.V298V|SORBS1_ENST00000371241.1_Silent_p.V203V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGTGCTCTTCACCACCCGCC	0.493																																																	0													299.0	229.0	253.0					10																	97158831		2203	4300	6503	SO:0001819	synonymous_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1101G>A	10.37:g.97158831C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.V367	ENST00000361941.3	37	c.1101	CCDS31255.1	10																																																																																			SORBS1	-	pfam_Sorb,smart_Sorb,pfscan_Sorb		0.493	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97158831	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	silent	SNP	0.001	T
SORCS3	22986	genome.wustl.edu	37	10	106927067	106927067	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:106927067G>A	ENST00000369701.3	+	13	2088	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	621					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTGCCCTCGTGGCCATGAA	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)												0													142.0	122.0	129.0					10																	106927067		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1861G>A	10.37:g.106927067G>A	ENSP00000358715:p.Val621Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V621M	ENST00000369701.3	37	c.1861	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306628	0.81247	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.39592	1.07;1.07	5.76	5.76	0.90799	VPS10 (1);	0.138580	0.50627	D	0.000115	T	0.69450	0.3112	M	0.83312	2.635	0.58432	D	0.999996	D	0.89917	1.0	D	0.75484	0.986	T	0.70472	-0.4862	9	.	.	.	.	19.9571	0.97224	0.0:0.0:1.0:0.0	.	621	Q9UPU3	SORC3_HUMAN	M	621;66	ENSP00000358715:V621M;ENSP00000376876:V66M	.	V	+	1	0	SORCS3	106917057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.303000	0.65738	2.721000	0.93114	0.655000	0.94253	GTG	SORCS3	-	smart_VPS10		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106927067	+1	no_errors	ENST00000369701	ensembl	human	known	70_37	missense	SNP	1.000	A
SOX3	6658	genome.wustl.edu	37	X	139586773	139586773	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:139586773G>A	ENST00000370536.2	-	1	452	c.453C>T	c.(451-453)cgC>cgT	p.R151R		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	151					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCGCTGCCCGCGGGACCATA	0.647																																																	0													45.0	46.0	46.0					X																	139586773		2203	4300	6503	SO:0001819	synonymous_variant	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.453C>T	X.37:g.139586773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R151	ENST00000370536.2	37	c.453	CCDS14669.1	X																																																																																			SOX3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.647	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	G			139586773	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	silent	SNP	0.942	A
SPATS2L	26010	genome.wustl.edu	37	2	201305383	201305383	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:201305383G>C	ENST00000358677.5	+	8	911	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	SPATS2L_ENST00000409718.1_Missense_Mutation_p.E222Q|SPATS2L_ENST00000451764.2_Missense_Mutation_p.E222Q|SPATS2L_ENST00000360760.5_Missense_Mutation_p.E153Q|SPATS2L_ENST00000409988.3_Missense_Mutation_p.E222Q|SPATS2L_ENST00000409140.3_Missense_Mutation_p.E222Q|SPATS2L_ENST00000409385.1_Missense_Mutation_p.E162Q|SPATS2L_ENST00000409755.3_Missense_Mutation_p.E252Q|SPATS2L_ENST00000409151.1_Missense_Mutation_p.E230Q	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	222						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCCAAATATTGAGAAATCAGT	0.358																																																	0													73.0	69.0	70.0					2																	201305383		1863	4107	5970	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.664G>C	2.37:g.201305383G>C	ENSP00000351503:p.Glu222Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.E252Q	ENST00000358677.5	37	c.754	CCDS46483.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.178198|5.178198	0.94846|0.94846	.|.	.|.	ENSG00000196141|ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000449647;ENST00000438761|ENST00000366118	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.997;0.998|.	T|T	0.71909|0.71909	-0.4450|-0.4450	9|5	0.87932|.	D|.	0|.	-27.6298|-27.6298	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	252;153;222|.	B4DT67;Q9NUQ6-2;Q9NUQ6|.	.;.;SPS2L_HUMAN|.	Q|F	222;222;222;162;222;153;153;222;153;252;230;153;148|4	.|.	ENSP00000351503:E222Q|.	E|L	+|+	1|3	0|2	SPATS2L|SPATS2L	201013628|201013628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.509000|8.509000	0.90529|0.90529	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|TTG	SPATS2L	-	pfam_DUF1387		0.358	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	G	NM_015535		201305383	+1	no_errors	ENST00000409755	ensembl	human	known	70_37	missense	SNP	1.000	C
SPHK2	56848	genome.wustl.edu	37	19	49133018	49133018	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:49133018G>A	ENST00000245222.4	+	7	2319	c.1953G>A	c.(1951-1953)ggG>ggA	p.G651G	SPHK2_ENST00000598088.1_Silent_p.G651G|SPHK2_ENST00000340932.3_Silent_p.G613G|SPHK2_ENST00000599029.1_Intron|SPHK2_ENST00000600537.1_Silent_p.G592G|SPHK2_ENST00000599748.1_Silent_p.G615G|SPHK2_ENST00000443164.1_Intron	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	651					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGCCCGGGGCGGGAGCCCT	0.657																																																	0													13.0	14.0	14.0					19																	49133018		2195	4285	6480	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1953G>A	19.37:g.49133018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G651	ENST00000245222.4	37	c.1953	CCDS12727.1	19																																																																																			SPHK2	-	NULL		0.657	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	G			49133018	+1	no_errors	ENST00000245222	ensembl	human	known	70_37	silent	SNP	0.005	A
SPIRE2	84501	genome.wustl.edu	37	16	89922026	89922026	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:89922026C>T	ENST00000378247.3	+	6	953	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	SPIRE2_ENST00000393062.2_Missense_Mutation_p.P304S	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	304					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGACATCCCGCCCCGGGTGAA	0.662																																																	0													72.0	53.0	59.0					16																	89922026		2197	4299	6496	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.910C>T	16.37:g.89922026C>T	ENSP00000367494:p.Pro304Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.P304S	ENST00000378247.3	37	c.910	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678689	0.68042	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.50277	0.76;0.75	5.39	4.44	0.53790	.	0.096798	0.64402	N	0.000001	T	0.67552	0.2905	M	0.79475	2.455	0.80722	D	1	D;B;D;B	0.89917	1.0;0.103;1.0;0.176	D;B;D;B	0.87578	0.998;0.031;0.998;0.046	T	0.71122	-0.4684	10	0.62326	D	0.03	-40.8455	12.0945	0.53747	0.0:0.9154:0.0:0.0846	.	171;304;256;304	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	S	304	ENSP00000367494:P304S;ENSP00000376782:P304S	ENSP00000367494:P304S	P	+	1	0	SPIRE2	88449527	0.973000	0.33851	0.387000	0.26183	0.806000	0.45545	2.766000	0.47629	1.393000	0.46605	0.561000	0.74099	CCC	SPIRE2	-	NULL		0.662	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89922026	+1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	0.975	T
SPNS2	124976	genome.wustl.edu	37	17	4437146	4437146	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:4437146A>T	ENST00000329078.3	+	9	1552	c.1342A>T	c.(1342-1344)Atg>Ttg	p.M448L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	448					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						AGACATCCTCATGGTGAGCCA	0.632																																																	0													58.0	51.0	53.0					17																	4437146		1568	3582	5150	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1342A>T	17.37:g.4437146A>T	ENSP00000333292:p.Met448Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M448L	ENST00000329078.3	37	c.1342	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	a	6.484	0.457482	0.12342	.	.	ENSG00000183018	ENST00000329078	T	0.58210	0.35	4.49	4.49	0.54785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.183157	0.56097	D	0.000024	T	0.19366	0.0465	N	0.00894	-1.105	0.39782	D	0.972319	B	0.13145	0.007	B	0.12156	0.007	T	0.28522	-1.0041	10	0.02654	T	1	.	11.4551	0.50176	1.0:0.0:0.0:0.0	.	448	Q8IVW8	SPNS2_HUMAN	L	448	ENSP00000333292:M448L	ENSP00000333292:M448L	M	+	1	0	SPNS2	4383895	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.912000	0.63335	1.784000	0.52394	0.398000	0.26397	ATG	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	A			4437146	+1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	T
SPRY1	10252	genome.wustl.edu	37	4	124323449	124323449	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:124323449G>A	ENST00000394339.2	+	2	1043	c.703G>A	c.(703-705)Gac>Aac	p.D235N	SPRY1_ENST00000339241.1_Missense_Mutation_p.D235N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	235	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGCTCCAATGACGACGAAGG	0.478																																																	0													269.0	228.0	242.0					4																	124323449		2203	4300	6503	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.703G>A	4.37:g.124323449G>A	ENSP00000377871:p.Asp235Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.D235N	ENST00000394339.2	37	c.703	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653020	0.88056	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.71103	-0.54;-0.54	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.85710	2.77	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.86683	0.1918	9	.	.	.	-22.3844	18.2393	0.89961	0.0:0.0:1.0:0.0	.	235	O43609	SPY1_HUMAN	N	235	ENSP00000343785:D235N;ENSP00000377871:D235N	.	D	+	1	0	SPRY1	124542899	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	6.992000	0.76238	2.622000	0.88805	0.561000	0.74099	GAC	SPRY1	-	pfam_Sprouty		0.478	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	G			124323449	+1	no_errors	ENST00000339241	ensembl	human	known	70_37	missense	SNP	1.000	A
SPSB1	80176	genome.wustl.edu	37	1	9416573	9416573	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:9416573A>G	ENST00000328089.6	+	2	964	c.623A>G	c.(622-624)aAa>aGa	p.K208R	SPSB1_ENST00000377399.2_Missense_Mutation_p.K208R|SPSB1_ENST00000357898.3_Missense_Mutation_p.K208R	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	208	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGGCAAAAAACTGTATCCT	0.542																																																	0													129.0	128.0	128.0					1																	9416573		2203	4300	6503	SO:0001583	missense	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.623A>G	1.37:g.9416573A>G	ENSP00000330221:p.Lys208Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.K208R	ENST00000328089.6	37	c.623	CCDS102.1	1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884833	0.51908	.	.	ENSG00000171621	ENST00000328089;ENST00000357898;ENST00000377399	T;T;T	0.41400	1.0;1.0;1.0	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.52206	1.635	0.80722	D	1	B	0.14438	0.01	B	0.19148	0.024	T	0.16424	-1.0403	10	0.29301	T	0.29	-6.4047	14.1236	0.65205	1.0:0.0:0.0:0.0	.	208	Q96BD6	SPSB1_HUMAN	R	208	ENSP00000330221:K208R;ENSP00000350573:K208R;ENSP00000366616:K208R	ENSP00000330221:K208R	K	+	2	0	SPSB1	9339160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.273000	0.95719	1.941000	0.56285	0.533000	0.62120	AAA	SPSB1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.542	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB1	HGNC	protein_coding	OTTHUMT00000003727.2	A	NM_025106		9416573	+1	no_errors	ENST00000328089	ensembl	human	known	70_37	missense	SNP	1.000	G
SPSB2	84727	genome.wustl.edu	37	12	6981406	6981406	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6981406C>G	ENST00000524270.1	-	2	846	c.660G>C	c.(658-660)agG>agC	p.R220S	SPSB2_ENST00000519357.1_Missense_Mutation_p.R220S|RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000523102.1_Missense_Mutation_p.R220S|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCTCACCTCTCCTTTCGCCCA	0.617											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93.0	103.0	100.0					12																	6981406		2203	4300	6503	SO:0001583	missense	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.660G>C	12.37:g.6981406C>G	ENSP00000428338:p.Arg220Ser	Somatic	638	WXS	Illumina HiSeq	Phase_IV	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.R220S	ENST00000524270.1	37	c.660	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444450	0.63178	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.46819	0.99;0.99;0.86	3.69	2.78	0.32641	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SOCS protein, C-terminal (1);B30.2/SPRY domain (1);	0.582783	0.15769	N	0.245526	T	0.34890	0.0913	N	0.08118	0	0.27086	N	0.962971	B;D	0.55800	0.057;0.973	B;P	0.52856	0.073;0.711	T	0.10042	-1.0647	10	0.59425	D	0.04	.	6.3646	0.21447	0.0:0.8576:0.0:0.1424	.	220;220	B7Z4W1;Q99619	.;SPSB2_HUMAN	S	220	ENSP00000430872:R220S;ENSP00000428338:R220S;ENSP00000431037:R220S	ENSP00000431037:R220S	R	-	3	2	SPSB2	6851667	0.997000	0.39634	1.000000	0.80357	0.816000	0.46133	0.537000	0.23144	0.853000	0.35312	0.563000	0.77884	AGG	SPSB2	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C		0.617	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	C	NM_032641		6981406	-1	no_errors	ENST00000523102	ensembl	human	known	70_37	missense	SNP	1.000	G
SPSB2	84727	genome.wustl.edu	37	12	6981744	6981744	+	Missense_Mutation	SNP	C	C	T	rs369645281		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:6981744C>T	ENST00000524270.1	-	2	508	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SPSB2_ENST00000519357.1_Missense_Mutation_p.V108M|RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000523102.1_Missense_Mutation_p.V108M|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	108	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCGTGGCCACGCCCACCACG	0.697											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	MET/VAL,MET/VAL	0,4402		0,0,2201	28.0	32.0	31.0		322,322	3.8	1.0	12		31	2,8590		0,2,4294	no	missense,missense	SPSB2	NM_001146316.1,NM_032641.3	21,21	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	108/264,108/264	6981744	2,12992	2201	4296	6497	SO:0001583	missense	84727			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.322G>A	12.37:g.6981744C>T	ENSP00000428338:p.Val108Met	Somatic	638	WXS	Illumina HiSeq	Phase_IV	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.V108M	ENST00000524270.1	37	c.322	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850200	0.71719	0.0	2.33E-4	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.80909	-1.43;-1.43;-1.43	3.84	3.84	0.44239	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098289	0.38897	N	0.001534	D	0.91811	0.7409	H	0.94808	3.585	0.49582	D	0.9998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.93820	0.7118	10	0.87932	D	0	.	13.6347	0.62215	0.0:1.0:0.0:0.0	.	108;108	B7Z4W1;Q99619	.;SPSB2_HUMAN	M	108	ENSP00000430872:V108M;ENSP00000428338:V108M;ENSP00000431037:V108M	ENSP00000431037:V108M	V	-	1	0	SPSB2	6852005	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	5.871000	0.69628	2.122000	0.65172	0.563000	0.77884	GTG	SPSB2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.697	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	C	NM_032641		6981744	-1	no_errors	ENST00000523102	ensembl	human	known	70_37	missense	SNP	1.000	T
SRSF5	6430	genome.wustl.edu	37	14	70237973	70237973	+	Missense_Mutation	SNP	G	G	A	rs141668513		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:70237973G>A	ENST00000553521.1	+	9	2067	c.614G>A	c.(613-615)cGt>cAt	p.R205H	SRSF5_ENST00000557154.1_Missense_Mutation_p.R205H|SRSF5_ENST00000394366.2_Missense_Mutation_p.R205H|SRSF5_ENST00000553635.1_Missense_Mutation_p.R202H|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	205	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AGCCGATCCCGTTCCCGTAGT	0.527																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	88.0	96.0	93.0		614,614	5.8	1.0	14	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SRSF5	NM_006925.3,NM_001039465.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	205/273,205/273	70237973	1,13005	2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.614G>A	14.37:g.70237973G>A	ENSP00000452123:p.Arg205His	Somatic		WXS	Illumina HiSeq	Phase_IV	O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R205H	ENST00000553521.1	37	c.614	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019499	0.54576	0.0	1.16E-4	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.78	5.78	0.91487	.	2.183590	0.02345	N	0.075338	T	0.22437	0.0541	M	0.63428	1.95	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.09377	0.004;0.002	T	0.45086	-0.9285	10	0.40728	T	0.16	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	202;205	Q13243-3;Q13243	.;SRSF5_HUMAN	H	205;205;205;202	ENSP00000452123:R205H;ENSP00000377892:R205H;ENSP00000451088:R205H;ENSP00000451391:R202H	ENSP00000377892:R205H	R	+	2	0	SRSF5	69307726	1.000000	0.71417	0.996000	0.52242	0.615000	0.37417	7.937000	0.87672	2.738000	0.93877	0.655000	0.94253	CGT	SRSF5	-	NULL		0.527	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	G	NM_001039465		70237973	+1	no_errors	ENST00000394366	ensembl	human	novel	70_37	missense	SNP	1.000	A
SSPO	23145	genome.wustl.edu	37	7	149522126	149522126	+	RNA	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:149522126G>A	ENST00000378016.2	+	0	13913							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)			TTCAGGCTACGCTGGAGAGAG	0.642																																																	0													15.0	19.0	18.0					7																	149522126		1913	4112	6025			23145			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.149522126G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149522126	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	A
ST5	6764	genome.wustl.edu	37	11	8737223	8737223	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:8737223G>A	ENST00000534127.1	-	9	2157	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ST5_ENST00000313726.6_Missense_Mutation_p.S591F|ST5_ENST00000526099.1_Missense_Mutation_p.S104F|ST5_ENST00000530438.1_Missense_Mutation_p.S171F|ST5_ENST00000526757.1_Missense_Mutation_p.S171F|ST5_ENST00000357665.1_Missense_Mutation_p.S591F|ST5_ENST00000530991.1_Missense_Mutation_p.S63F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	591					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ATTGAGGCTGGAGGGTGAGGA	0.642																																																	0													79.0	73.0	75.0					11																	8737223		2201	4296	6497	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1772C>T	11.37:g.8737223G>A	ENSP00000433528:p.Ser591Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	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.S591F	ENST00000534127.1	37	c.1772	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482359	0.84747	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060	T;T;T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	5.54	4.61	0.57282	.	0.110267	0.64402	D	0.000004	T	0.26048	0.0635	L	0.55481	1.735	0.47065	D	0.999309	P;P;D	0.58970	0.918;0.906;0.984	P;P;P	0.59948	0.653;0.8;0.866	T	0.01222	-1.1414	10	0.62326	D	0.03	-11.7328	16.2608	0.82541	0.0:0.1331:0.8669:0.0	.	104;171;591	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	F	171;591;591;63;591;104;171;63;201;63;63;80	ENSP00000435097:S171F;ENSP00000433528:S591F;ENSP00000319678:S591F;ENSP00000432887:S63F;ENSP00000350294:S591F;ENSP00000436808:S104F;ENSP00000436802:S171F;ENSP00000433588:S63F;ENSP00000437096:S63F;ENSP00000431580:S63F;ENSP00000433858:S80F	ENSP00000319678:S591F	S	-	2	0	ST5	8693799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.075000	0.64407	1.304000	0.44892	0.655000	0.94253	TCC	ST5	-	NULL		0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8737223	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GALNAC1	55808	genome.wustl.edu	37	17	74622103	74622103	+	Missense_Mutation	SNP	C	C	T	rs151127625		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74622103C>T	ENST00000156626.7	-	7	1689	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	497					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTCATGTATCGGAGAAAGTC	0.542																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	180.0	178.0	179.0		1490	4.3	0.0	17	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST6GALNAC1	NM_018414.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	497/601	74622103	2,13004	2203	4300	6503	SO:0001583	missense	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1490G>A	17.37:g.74622103C>T	ENSP00000156626:p.Arg497Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R497Q	ENST00000156626.7	37	c.1490	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699384	0.88830	2.27E-4	1.16E-4	ENSG00000070526	ENST00000156626	T	0.33216	1.42	5.28	4.3	0.51218	.	0.000000	0.64402	D	0.000001	T	0.51702	0.1690	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51442	-0.8705	10	0.41790	T	0.15	-14.8249	16.2785	0.82657	0.0:0.8673:0.1327:0.0	.	497	Q9NSC7	SIA7A_HUMAN	Q	497	ENSP00000156626:R497Q	ENSP00000156626:R497Q	R	-	2	0	ST6GALNAC1	72133698	0.760000	0.28428	0.023000	0.16930	0.995000	0.86356	1.623000	0.37008	1.349000	0.45751	0.655000	0.94253	CGA	ST6GALNAC1	-	pfam_Glyco_trans_29		0.542	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74622103	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	missense	SNP	0.968	T
ST8SIA5	29906	genome.wustl.edu	37	18	44268784	44268784	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr18:44268784C>G	ENST00000315087.7	-	4	1070	c.410G>C	c.(409-411)aGt>aCt	p.S137T	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S173T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S106T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	137					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTAGATGCCACTGGTGTCCAC	0.587																																																	0													195.0	166.0	176.0					18																	44268784		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.410G>C	18.37:g.44268784C>G	ENSP00000321343:p.Ser137Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S137T	ENST00000315087.7	37	c.410	CCDS11930.1	18	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723375	0.68959	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.29917	1.55;1.55;1.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	N	0.24115	0.695	0.80722	D	1	D;B;D	0.63880	0.96;0.073;0.993	P;B;P	0.58928	0.497;0.105;0.848	T	0.04440	-1.0951	10	0.16896	T	0.51	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	106;173;137	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	T	137;173;106	ENSP00000321343:S137T;ENSP00000445492:S173T;ENSP00000443683:S106T	ENSP00000321343:S137T	S	-	2	0	ST8SIA5	42522782	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	7.463000	0.80869	2.629000	0.89072	0.561000	0.74099	AGT	ST8SIA5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA5	HGNC	protein_coding	OTTHUMT00000255892.1	C	NM_013305		44268784	-1	no_errors	ENST00000315087	ensembl	human	known	70_37	missense	SNP	1.000	G
STAT2	6773	genome.wustl.edu	37	12	56744663	56744663	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:56744663C>T	ENST00000314128.4	-	11	1067	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	STAT2_ENST00000418572.2_Silent_p.V344V|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Silent_p.V344V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	348					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGGAGTCTCACCAGCAGCC	0.527																																																	0													98.0	93.0	95.0					12																	56744663		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1044G>A	12.37:g.56744663C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V348	ENST00000314128.4	37	c.1044	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56744663	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.993	T
STAT2	6773	genome.wustl.edu	37	12	56745189	56745189	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:56745189C>T	ENST00000314128.4	-	9	851	c.828G>A	c.(826-828)ctG>ctA	p.L276L	STAT2_ENST00000418572.2_Silent_p.L272L|STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Silent_p.L272L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	276					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCAGCTCCTTCAGCAGCTGCC	0.527																																																	0													198.0	175.0	183.0					12																	56745189		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.828G>A	12.37:g.56745189C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L276	ENST00000314128.4	37	c.828	CCDS8917.1	12																																																																																			STAT2	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	C	NM_005419		56745189	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	0.997	T
STK10	6793	genome.wustl.edu	37	5	171614915	171614915	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:171614915G>A	ENST00000176763.5	-	1	475	c.132C>T	c.(130-132)gaC>gaT	p.D44D		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	44	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CGAAGGCGCCGTCGCCCAGCT	0.672																																																	0													30.0	30.0	30.0					5																	171614915		2203	4300	6503	SO:0001819	synonymous_variant	6793			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.132C>T	5.37:g.171614915G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D44	ENST00000176763.5	37	c.132	CCDS34290.1	5																																																																																			STK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.672	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	G	NM_005990		171614915	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	silent	SNP	1.000	A
STRC	161497	genome.wustl.edu	37	15	43893150	43893150	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43893150G>A	ENST00000450892.2	-	25	4841	c.4764C>T	c.(4762-4764)ttC>ttT	p.F1588F	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.F815F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1588					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGATGAACGAAGTCCAGGT	0.582																																																	0													28.0	36.0	33.0					15																	43893150		2190	4270	6460	SO:0001819	synonymous_variant	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4764C>T	15.37:g.43893150G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.F1588	ENST00000450892.2	37	c.4764	CCDS10098.1	15																																																																																			STRC	-	NULL		0.582	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	HGNC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		43893150	-1	no_errors	ENST00000450892	ensembl	human	known	70_37	silent	SNP	0.998	A
SUCO	51430	genome.wustl.edu	37	1	172560172	172560172	+	Silent	SNP	C	C	T	rs554267635		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:172560172C>T	ENST00000263688.3	+	19	3093	c.2874C>T	c.(2872-2874)atC>atT	p.I958I	SUCO_ENST00000367723.4_Silent_p.I1109I|SUCO_ENST00000610051.1_Silent_p.I587I|SUCO_ENST00000608151.1_Silent_p.I1110I	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	958					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)											ATAAAACAATCGTGAAACTTC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		16686	0.0		0.0	False		,,,				2504	0.001																0													91.0	95.0	94.0					1																	172560172		2203	4300	6503	SO:0001819	synonymous_variant	51430			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.2874C>T	1.37:g.172560172C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.I1110	ENST00000263688.3	37	c.3330	CCDS1303.1	1																																																																																			SUCO	-	NULL		0.328	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	C	NM_016227		172560172	+1	no_errors	ENST00000367723	ensembl	human	known	70_37	silent	SNP	0.999	T
SULF2	55959	genome.wustl.edu	37	20	46331391	46331391	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:46331391C>T	ENST00000359930.4	-	4	1290	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SULF2_ENST00000467815.1_Missense_Mutation_p.E147K|SULF2_ENST00000361612.4_Missense_Mutation_p.E147K|SULF2_ENST00000484875.1_Missense_Mutation_p.E147K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	147					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGTTGTATTCATTAAGATAC	0.512																																																	0													42.0	38.0	40.0					20																	46331391		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.439G>A	20.37:g.46331391C>T	ENSP00000353007:p.Glu147Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.E147K	ENST00000359930.4	37	c.439	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.442456	0.96187	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.27	5.08	5.08	0.68730	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.72353	2.195	0.80722	D	1	P;D;D	0.89917	0.84;1.0;1.0	B;D;D	0.91635	0.37;0.999;0.998	D	0.96958	0.9699	10	0.25106	T	0.35	-20.2258	18.4712	0.90776	0.0:1.0:0.0:0.0	.	147;147;147	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	K	147	ENSP00000353007:E147K;ENSP00000418290:E147K;ENSP00000354662:E147K;ENSP00000418442:E147K;ENSP00000410026:E147K	ENSP00000353007:E147K	E	-	1	0	SULF2	45764798	1.000000	0.71417	0.962000	0.40283	0.932000	0.56968	7.814000	0.86154	2.355000	0.79922	0.561000	0.74099	GAA	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.512	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	C	NM_018837		46331391	-1	no_errors	ENST00000359930	ensembl	human	known	70_37	missense	SNP	1.000	T
SULT2B1	6820	genome.wustl.edu	37	19	49090586	49090586	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:49090586G>C	ENST00000201586.2	+	3	493	c.315G>C	c.(313-315)gaG>gaC	p.E105D	SULT2B1_ENST00000323090.4_Missense_Mutation_p.E90D	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	105					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTGGTGTGAGACCATTGTGG	0.592																																																	0													90.0	74.0	79.0					19																	49090586		2203	4300	6503	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.315G>C	19.37:g.49090586G>C	ENSP00000201586:p.Glu105Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E105D	ENST00000201586.2	37	c.315	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983256	0.35036	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02067	4.47;4.47	4.98	2.76	0.32466	Sulfotransferase domain (1);	0.000000	0.48286	D	0.000188	T	0.10121	0.0248	M	0.82517	2.595	0.31756	N	0.633941	P;D	0.56746	0.718;0.977	B;D	0.66979	0.316;0.948	T	0.02037	-1.1225	10	0.66056	D	0.02	.	6.9701	0.24644	0.3031:0.0:0.6969:0.0	.	90;105	O00204-2;O00204	.;ST2B1_HUMAN	D	105;90	ENSP00000201586:E105D;ENSP00000312880:E90D	ENSP00000201586:E105D	E	+	3	2	SULT2B1	53782398	1.000000	0.71417	0.181000	0.23098	0.006000	0.05464	2.634000	0.46528	0.559000	0.29153	0.579000	0.79373	GAG	SULT2B1	-	pfam_Sulfotransferase_dom		0.592	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	G	NM_004605		49090586	+1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	0.731	C
SUV420H1	51111	genome.wustl.edu	37	11	67926451	67926451	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:67926451C>G	ENST00000304363.4	-	11	1715	c.1362G>C	c.(1360-1362)ttG>ttC	p.L454F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	454					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATGATTTCTCAATTTTATCT	0.358																																																	0													76.0	80.0	78.0					11																	67926451		2200	4294	6494	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1362G>C	11.37:g.67926451C>G	ENSP00000305899:p.Leu454Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L454F	ENST00000304363.4	37	c.1362	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371725	0.42003	.	.	ENSG00000110066	ENST00000304363	T	0.55234	0.53	5.55	-4.15	0.03881	.	0.355394	0.25590	N	0.029626	T	0.40694	0.1127	N	0.24115	0.695	0.54753	D	0.999983	D	0.56035	0.974	P	0.51135	0.66	T	0.41858	-0.9485	10	0.62326	D	0.03	-11.624	9.5483	0.39295	0.0:0.4673:0.1034:0.4293	.	454	Q4FZB7	SV421_HUMAN	F	454	ENSP00000305899:L454F	ENSP00000305899:L454F	L	-	3	2	SUV420H1	67683027	0.986000	0.35501	0.015000	0.15790	0.203000	0.24098	0.185000	0.16958	-0.942000	0.03695	-0.918000	0.02743	TTG	SUV420H1	-	NULL		0.358	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	C	NM_017635		67926451	-1	no_errors	ENST00000304363	ensembl	human	known	70_37	missense	SNP	0.647	G
SYS1	90196	genome.wustl.edu	37	20	43995845	43995845	+	3'UTR	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:43995845G>C	ENST00000243918.5	+	0	852				SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000372727.1_3'UTR|SYS1_ENST00000414310.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein						protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCCCAGATCTGAGAGGAACCC	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.*90G>C	20.37:g.43995845G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	RNA	SNP	-	NULL	ENST00000243918.5	37	NULL	CCDS13351.1	20																																																																																			SYS1	-	-		0.532	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	G	NM_033542		43995845	+1	no_errors	ENST00000479779	ensembl	human	known	70_37	rna	SNP	0.945	C
SYT13	57586	genome.wustl.edu	37	11	45274066	45274066	+	Missense_Mutation	SNP	C	C	T	rs141892837		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:45274066C>T	ENST00000020926.3	-	4	863	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	251	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACGCTGTGACGGGAGAAGCG	0.692											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17969	0.001		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	46.0	46.0		752	5.8	1.0	11	dbSNP_134	46	2,8594	2.2+/-6.3	0,2,4296	no	missense	SYT13	NM_020826.2	29	0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231	benign	251/427	45274066	3,12999	2203	4298	6501	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.752G>A	11.37:g.45274066C>T	ENSP00000020926:p.Arg251His	Somatic	930	WXS	Illumina HiSeq	Phase_IV	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R251H	ENST00000020926.3	37	c.752	CCDS31470.1	11	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398047	0.62177	2.27E-4	2.33E-4	ENSG00000019505	ENST00000020926	T	0.09163	3.01	5.85	5.85	0.93711	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.061330	0.64402	D	0.000013	T	0.16171	0.0389	L	0.45228	1.405	0.47737	D	0.999501	P	0.50710	0.938	P	0.45119	0.47	T	0.00216	-1.1910	10	0.49607	T	0.09	.	20.1775	0.98187	0.0:1.0:0.0:0.0	.	251	Q7L8C5	SYT13_HUMAN	H	251	ENSP00000020926:R251H	ENSP00000020926:R251H	R	-	2	0	SYT13	45230642	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.590000	0.61013	2.771000	0.95319	0.561000	0.74099	CGT	SYT13	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB		0.692	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	C	NM_020826		45274066	-1	no_errors	ENST00000020926	ensembl	human	known	70_37	missense	SNP	1.000	T
TADA2B	93624	genome.wustl.edu	37	4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:7045505G>A	ENST00000310074.7	+	1	388	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CCDC96_ENST00000310085.4_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_Intron	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	67	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGAGGCCGAGGGCGGCTG	0.736																																																	0													8.0	10.0	9.0					4																	7045505		1868	3996	5864	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.199G>A	4.37:g.7045505G>A	ENSP00000308022:p.Glu67Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.E67K	ENST00000310074.7	37	c.199	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244872	0.05906	.	.	ENSG00000173011	ENST00000310074	T	0.55930	0.49	3.13	1.01	0.19927	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.132610	0.49305	U	0.000157	T	0.38532	0.1044	L	0.52905	1.665	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.11348	-1.0591	10	0.12103	T	0.63	-21.9866	7.3179	0.26511	0.0:0.1853:0.6243:0.1904	.	67	Q86TJ2	TAD2B_HUMAN	K	67	ENSP00000308022:E67K	ENSP00000308022:E67K	E	+	1	0	TADA2B	7096406	1.000000	0.71417	0.991000	0.47740	0.402000	0.30811	4.900000	0.63252	0.384000	0.24942	-0.516000	0.04426	GAG	TADA2B	-	superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.736	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	G	NM_152293		7045505	+1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF5	6877	genome.wustl.edu	37	10	105141483	105141483	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:105141483C>T	ENST00000369839.3	+	6	1442	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	TAF5_ENST00000351396.4_Silent_p.L473L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	473					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGCAGGGTCTCACTGCAGTGG	0.383																																																	0													127.0	121.0	123.0					10																	105141483		2203	4300	6503	SO:0001819	synonymous_variant	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1419C>T	10.37:g.105141483C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L473	ENST00000369839.3	37	c.1419	CCDS7547.1	10																																																																																			TAF5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.383	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	C			105141483	+1	no_errors	ENST00000369839	ensembl	human	known	70_37	silent	SNP	0.964	T
TBC1D1	23216	genome.wustl.edu	37	4	38054812	38054812	+	Intron	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:38054812G>A	ENST00000261439.4	+	12	2265				TBC1D1_ENST00000508802.1_Missense_Mutation_p.E720K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGTAGATGAAAATAACAC	0.358																																																	0																																										SO:0001627	intron_variant	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1911-1008G>A	4.37:g.38054812G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E720K	ENST00000261439.4	37	c.2158	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713562	0.89112	.	.	ENSG00000065882	ENST00000508802	T	0.08008	3.14	5.52	5.52	0.82312	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.00533	-1.1685	8	0.27785	T	0.31	.	19.4699	0.94959	0.0:0.0:1.0:0.0	.	720	E9PGH8	.	K	720	ENSP00000423651:E720K	ENSP00000423651:E720K	E	+	1	0	TBC1D1	37731207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.591000	0.87537	0.650000	0.86243	GAA	TBC1D1	-	NULL		0.358	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	G	NM_015173		38054812	+1	no_errors	ENST00000508802	ensembl	human	novel	70_37	missense	SNP	1.000	A
TBC1D10C	374403	genome.wustl.edu	37	11	67173470	67173470	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:67173470C>G	ENST00000542590.1	+	5	578	c.564C>G	c.(562-564)ctC>ctG	p.L188L	TBC1D10C_ENST00000526387.1_Nonsense_Mutation_p.S187*|TBC1D10C_ENST00000312390.5_Silent_p.L188L			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	188	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTGCTGCTCATGCACCTGC	0.647																																																	0													18.0	19.0	18.0					11																	67173470		2195	4293	6488	SO:0001819	synonymous_variant	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.564C>G	11.37:g.67173470C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1D6	Nonsense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.S187*	ENST00000542590.1	37	c.560	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908985	0.72868	.	.	ENSG00000175463	ENST00000526387	.	.	.	4.34	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6888	0.28557	0.0:0.7176:0.0:0.2824	.	.	.	.	X	187	.	ENSP00000435543:S187X	S	+	2	0	TBC1D10C	66930046	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.260000	0.18424	0.472000	0.27344	0.462000	0.41574	TCA	TBC1D10C	-	NULL		0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	C	NM_198517		67173470	+1	no_errors	ENST00000526387	ensembl	human	novel	70_37	nonsense	SNP	1.000	G
TBC1D3B	414059	genome.wustl.edu	37	17	34499303	34499303	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:34499303C>G	ENST00000454519.3	-	7	557	c.408G>C	c.(406-408)aaG>aaC	p.K136N	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.K136N	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGATGACCTCTTGCCCTTCT	0.552																																																	0													1.0	1.0	1.0					17																	34499303		722	1342	2064	SO:0001583	missense	414059			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.408G>C	17.37:g.34499303C>G	ENSP00000390852:p.Lys136Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K892	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.K136N	ENST00000454519.3	37	c.408	CCDS42300.1	17	.	.	.	.	.	.	.	.	.	.	.	9.621	1.133879	0.21123	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.33654	1.4;1.4	.	.	.	Rab-GAP/TBC domain (4);	0.553880	0.16679	U	0.204013	T	0.44973	0.1319	L	0.58101	1.795	0.19575	N	0.999969	P	0.49447	0.924	P	0.58266	0.836	T	0.24621	-1.0155	8	0.51188	T	0.08	.	.	.	.	.	136	A6NDS4	TBC3B_HUMAN	N	136	ENSP00000381781:K136N;ENSP00000390852:K136N	ENSP00000340678:K136N	K	-	3	2	TBC1D3B	31523416	0.023000	0.18921	0.098000	0.21074	0.098000	0.18820	-0.054000	0.11826	0.107000	0.17824	0.109000	0.15622	AAG	TBC1D3B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D3B	HGNC	protein_coding	OTTHUMT00000256087.3	C	NM_001001417		34499303	-1	no_errors	ENST00000398801	ensembl	human	known	70_37	missense	SNP	0.430	G
TBC1D3B	414059	genome.wustl.edu	37	17	34499728	34499728	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:34499728C>A	ENST00000454519.3	-	6	461	c.312G>T	c.(310-312)atG>atT	p.M104I	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.M104I	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	104	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGGATGTTCATGGGCATTC	0.552																																																	0													1.0	1.0	1.0					17																	34499728		16	36	52	SO:0001583	missense	414059			AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.312G>T	17.37:g.34499728C>A	ENSP00000390852:p.Met104Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K892	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M104I	ENST00000454519.3	37	c.312	CCDS42300.1	17	.	.	.	.	.	.	.	.	.	.	.	5.613	0.297890	0.10622	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.32023	1.47;1.47	.	.	.	Rab-GAP/TBC domain (3);	0.728603	0.12386	U	0.473468	T	0.31231	0.0790	M	0.70275	2.135	0.24415	N	0.994646	B	0.27013	0.166	B	0.33121	0.158	T	0.32771	-0.9894	8	0.37606	T	0.19	.	.	.	.	.	104	A6NDS4	TBC3B_HUMAN	I	104	ENSP00000381781:M104I;ENSP00000390852:M104I	ENSP00000340678:M104I	M	-	3	0	TBC1D3B	31523841	1.000000	0.71417	0.052000	0.19188	0.052000	0.14988	0.309000	0.19332	0.107000	0.17824	0.109000	0.15622	ATG	TBC1D3B	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.552	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D3B	HGNC	protein_coding	OTTHUMT00000256087.3	C	NM_001001417		34499728	-1	no_errors	ENST00000398801	ensembl	human	known	70_37	missense	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24078240	24078240	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078240G>A	ENST00000418390.2	+	4	1494	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	TCEB3_ENST00000609199.1_Missense_Mutation_p.R382K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	408					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATTTGGATAGAAAGTCACTG	0.458											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													99.0	112.0	107.0					1																	24078240		2203	4299	6502	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1223G>A	1.37:g.24078240G>A	ENSP00000395574:p.Arg408Lys	Somatic	768	WXS	Illumina HiSeq	Phase_IV	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.R408K	ENST00000418390.2	37	c.1223	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	0.157	-1.085162	0.01873	.	.	ENSG00000011007	ENST00000418390	T	0.06068	3.35	5.58	3.71	0.42584	.	0.186615	0.37136	N	0.002234	T	0.04679	0.0127	L	0.35723	1.085	0.18873	N	0.999988	B	0.06786	0.001	B	0.04013	0.001	T	0.44436	-0.9328	10	0.14252	T	0.57	-5.9827	5.7979	0.18397	0.1938:0.0:0.653:0.1532	.	408	Q14241	ELOA1_HUMAN	K	408	ENSP00000395574:R408K	ENSP00000395574:R408K	R	+	2	0	TCEB3	23950827	0.119000	0.22226	0.082000	0.20525	0.002000	0.02628	2.177000	0.42509	0.712000	0.32039	-0.169000	0.13324	AGA	TCEB3	-	NULL		0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078240	+1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	0.464	A
TCEB3	6924	genome.wustl.edu	37	1	24078346	24078346	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078346G>A	ENST00000418390.2	+	4	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	TCEB3_ENST00000609199.1_Silent_p.R417R	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	443					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCAGCCCCGGAAGAAAAAGA	0.438											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102.0	120.0	114.0					1																	24078346		2193	4297	6490	SO:0001819	synonymous_variant	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1329G>A	1.37:g.24078346G>A		Somatic	768	WXS	Illumina HiSeq	Phase_IV	B2R7Q8|Q8IXH1	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.R443	ENST00000418390.2	37	c.1329	CCDS239.2	1																																																																																			TCEB3	-	NULL		0.438	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078346	+1	no_errors	ENST00000418390	ensembl	human	known	70_37	silent	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24078361	24078361	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:24078361G>C	ENST00000418390.2	+	4	1615	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N	TCEB3_ENST00000609199.1_Missense_Mutation_p.K422N	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	448					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAAAGAAAAAGATTGTGAAAA	0.408											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	112.0	106.0					1																	24078361		2195	4299	6494	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1344G>C	1.37:g.24078361G>C	ENSP00000395574:p.Lys448Asn	Somatic	768	WXS	Illumina HiSeq	Phase_IV	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.K448N	ENST00000418390.2	37	c.1344	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040171	0.55003	.	.	ENSG00000011007	ENST00000418390	T	0.13196	2.61	5.96	4.09	0.47781	.	0.000000	0.64402	D	0.000001	T	0.31231	0.0790	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02519	-1.1147	10	0.66056	D	0.02	-23.8459	9.572	0.39433	0.2763:0.0:0.7237:0.0	.	448	Q14241	ELOA1_HUMAN	N	448	ENSP00000395574:K448N	ENSP00000395574:K448N	K	+	3	2	TCEB3	23950948	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	3.264000	0.51553	1.535000	0.49220	-0.150000	0.13652	AAG	TCEB3	-	NULL		0.408	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078361	+1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	0.962	C
TCP10L2	401285	genome.wustl.edu	37	6	167610057	167610057	+	3'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:167610057G>A	ENST00000473271.2	+	0	350							B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2											endometrium(1)|kidney(2)|lung(3)	6						GGAGTACCCGGATGGCACCGT	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000473271.2:c.*347G>A	6.37:g.167610057G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000473271.2	37	NULL		6																																																																																			TCP10L2	-	-		0.527	TCP10L2-003	KNOWN	basic|exp_conf	processed_transcript	TCP10L2	HGNC	protein_coding	OTTHUMT00000331450.2	G	XR_040749		167610057	+1	no_errors	ENST00000473271	ensembl	human	known	70_37	rna	SNP	0.991	A
TET3	200424	genome.wustl.edu	37	2	74273966	74273966	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:74273966C>A	ENST00000409262.3	+	1	517	c.517C>A	c.(517-519)Ctg>Atg	p.L173M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	173					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGGGCCTCTGCCTCCTGG	0.662																																																	0													29.0	32.0	31.0					2																	74273966		2028	4151	6179	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.517C>A	2.37:g.74273966C>A	ENSP00000386869:p.Leu173Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.L173M	ENST00000409262.3	37	c.517	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748458	0.49257	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.26660	1.72;2.58	5.31	4.36	0.52297	.	.	.	.	.	T	0.24928	0.0605	N	0.19112	0.55	0.25178	N	0.990221	D	0.60575	0.988	P	0.54664	0.758	T	0.08166	-1.0735	9	0.62326	D	0.03	.	6.0061	0.19547	0.0:0.7022:0.1949:0.1029	.	173	O43151	TET3_HUMAN	M	215;173;173	ENSP00000307803:L215M;ENSP00000386869:L173M	ENSP00000233310:L173M	L	+	1	2	TET3	74127474	0.386000	0.25180	0.895000	0.35142	0.989000	0.77384	1.705000	0.37867	2.768000	0.95171	0.561000	0.74099	CTG	TET3	-	NULL		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74273966	+1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	0.915	A
TFR2	7036	genome.wustl.edu	37	7	100218570	100218570	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:100218570G>T	ENST00000462107.1	-	19	2603	c.2316C>A	c.(2314-2316)ttC>ttA	p.F772L	TFR2_ENST00000544242.1_Missense_Mutation_p.F313L|TFR2_ENST00000223051.3_Missense_Mutation_p.F772L|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	772					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GCTGACGCCGGAAACGGCTCT	0.662																																																	0													27.0	26.0	27.0					7																	100218570		2203	4300	6503	SO:0001583	missense	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2316C>A	7.37:g.100218570G>T	ENSP00000420525:p.Phe772Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.F772L	ENST00000462107.1	37	c.2316	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383551	0.42207	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.55930	0.49;0.49;0.49	5.54	2.48	0.30137	Transferrin receptor-like, dimerisation domain (3);	0.111586	0.64402	D	0.000008	T	0.21801	0.0525	N	0.03281	-0.365	0.80722	D	1	B	0.14805	0.011	B	0.19946	0.027	T	0.03887	-1.0995	10	0.10636	T	0.68	-15.3774	4.5611	0.12161	0.1974:0.0:0.6335:0.1691	.	772	Q9UP52	TFR2_HUMAN	L	772;772;313	ENSP00000223051:F772L;ENSP00000420525:F772L;ENSP00000443656:F313L	ENSP00000223051:F772L	F	-	3	2	TFR2	100056506	0.958000	0.32768	1.000000	0.80357	0.970000	0.65996	1.150000	0.31639	0.802000	0.34089	-0.145000	0.13849	TTC	TFR2	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.662	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	G	NM_003227		100218570	-1	no_errors	ENST00000223051	ensembl	human	known	70_37	missense	SNP	1.000	T
TG	7038	genome.wustl.edu	37	8	133899343	133899343	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:133899343G>C	ENST00000220616.4	+	9	1766	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	TG_ENST00000377869.1_Missense_Mutation_p.E576Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	576					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCTTCCAGAATTCCTTCT	0.448																																																	0													105.0	101.0	103.0					8																	133899343		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1726G>C	8.37:g.133899343G>C	ENSP00000220616:p.Glu576Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E576Q	ENST00000220616.4	37	c.1726	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276184	0.59649	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.67345	-0.26;-0.25	5.02	3.19	0.36642	.	0.271361	0.31495	N	0.007549	T	0.68641	0.3023	L	0.32530	0.975	0.23473	N	0.9976	D	0.76494	0.999	D	0.64144	0.922	T	0.60214	-0.7307	10	0.87932	D	0	.	9.6979	0.40169	0.0772:0.1414:0.7814:0.0	.	576	P01266	THYG_HUMAN	Q	576	ENSP00000367100:E576Q;ENSP00000220616:E576Q	ENSP00000220616:E576Q	E	+	1	0	TG	133968525	1.000000	0.71417	0.959000	0.39883	0.965000	0.64279	3.682000	0.54656	0.669000	0.31146	0.650000	0.86243	GAA	TG	-	pirsf_Thyroglobulin		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133899343	+1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.997	C
TG	7038	genome.wustl.edu	37	8	133925344	133925344	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:133925344G>C	ENST00000220616.4	+	20	4252	c.4212G>C	c.(4210-4212)caG>caC	p.Q1404H	TG_ENST00000377869.1_Missense_Mutation_p.Q1404H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1404					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCTGATCCAGAGTGGCTCAT	0.552																																																	0													106.0	90.0	96.0					8																	133925344		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4212G>C	8.37:g.133925344G>C	ENSP00000220616:p.Gln1404His	Somatic		WXS	Illumina HiSeq	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Q1404H	ENST00000220616.4	37	c.4212	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768417	0.49680	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.12;-0.11	5.81	-2.82	0.05787	.	0.403256	0.21447	N	0.074393	T	0.52821	0.1758	M	0.68317	2.08	0.26479	N	0.975145	P	0.45283	0.855	B	0.41510	0.359	T	0.53158	-0.8478	10	0.72032	D	0.01	.	6.3278	0.21253	0.3314:0.0:0.5144:0.1542	.	1404	P01266	THYG_HUMAN	H	1404;210;1404	ENSP00000367100:Q1404H;ENSP00000220616:Q1404H	ENSP00000220616:Q1404H	Q	+	3	2	TG	133994526	0.628000	0.27138	0.952000	0.39060	0.468000	0.32798	0.054000	0.14205	-0.400000	0.07656	-0.312000	0.09012	CAG	TG	-	pirsf_Thyroglobulin		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		133925344	+1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.976	C
TGFB1I1	7041	genome.wustl.edu	37	16	31488810	31488810	+	Silent	SNP	C	C	T	rs141725751		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:31488810C>T	ENST00000394863.3	+	11	1429	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	TGFB1I1_ENST00000361773.3_Silent_p.F416F|TGFB1I1_ENST00000394858.2_Silent_p.F416F|TGFB1I1_ENST00000567607.1_Silent_p.F416F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	433	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CATGCACCTTCTGCCTGCGCC	0.706																																																	0													21.0	21.0	21.0					16																	31488810		2193	4299	6492	SO:0001819	synonymous_variant	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1299C>T	16.37:g.31488810C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.F433	ENST00000394863.3	37	c.1299	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.706	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31488810	+1	no_errors	ENST00000394863	ensembl	human	known	70_37	silent	SNP	1.000	T
TGM2	7052	genome.wustl.edu	37	20	36766609	36766609	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:36766609G>C	ENST00000361475.2	-	10	1694	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	TGM2_ENST00000536701.1_Silent_p.L426L|TGM2_ENST00000536724.1_Silent_p.L447L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	507					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACAGAGCAGGAGGCGGCAGA	0.582																																																	0													102.0	74.0	83.0					20																	36766609		2203	4300	6503	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1521C>G	20.37:g.36766609G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L507	ENST00000361475.2	37	c.1521	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	G	NM_198951		36766609	-1	no_errors	ENST00000361475	ensembl	human	known	70_37	silent	SNP	0.972	C
TICRR	90381	genome.wustl.edu	37	15	90167236	90167236	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167236C>T	ENST00000268138.7	+	20	3800	c.3695C>T	c.(3694-3696)tCg>tTg	p.S1232L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.S1231L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1232	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCAACTTCATCGACTGCCCAG	0.557																																																	0													87.0	99.0	95.0					15																	90167236		2200	4299	6499	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3695C>T	15.37:g.90167236C>T	ENSP00000268138:p.Ser1232Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.S1232L	ENST00000268138.7	37	c.3695	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134439	0.01742	.	.	ENSG00000140534	ENST00000268138	T	0.08008	3.14	4.29	-0.673	0.11373	.	1.518790	0.04459	N	0.373974	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41610	-0.9499	10	0.27785	T	0.31	2.364	5.4925	0.16785	0.0:0.3673:0.1465:0.4862	.	1232	Q7Z2Z1	TICRR_HUMAN	L	1232	ENSP00000268138:S1232L	ENSP00000268138:S1232L	S	+	2	0	C15orf42	87968240	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	-0.041000	0.13558	-0.251000	0.11542	TCG	TICRR	-	NULL		0.557	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167236	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.000	T
TICRR	90381	genome.wustl.edu	37	15	90167264	90167264	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167264C>T	ENST00000268138.7	+	20	3828	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1240L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1241	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAGAGTGTCTCACTCCCATCA	0.562																																																	0													73.0	82.0	79.0					15																	90167264		2200	4299	6499	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3723C>T	15.37:g.90167264C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.L1241	ENST00000268138.7	37	c.3723	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.562	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167264	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.000	T
TICRR	90381	genome.wustl.edu	37	15	90167357	90167357	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90167357C>T	ENST00000268138.7	+	20	3921	c.3816C>T	c.(3814-3816)ctC>ctT	p.L1272L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1271L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1272	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCCATGTCCTCAGAGCTGCTC	0.522																																																	0													74.0	78.0	76.0					15																	90167357		2200	4299	6499	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3816C>T	15.37:g.90167357C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.L1272	ENST00000268138.7	37	c.3816	CCDS10352.2	15																																																																																			TICRR	-	NULL		0.522	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	C	NM_152259		90167357	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	silent	SNP	0.000	T
TIMP1	7076	genome.wustl.edu	37	X	47445206	47445206	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:47445206C>T	ENST00000218388.4	+	5	623				TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_Missense_Mutation_p.S192F|SYN1_ENST00000340666.4_Intron|MIR4769_ENST00000584126.1_RNA|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_3'UTR	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1						aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						CCTGATCTCTCTTGCTATTTC	0.567																																																	0																																										SO:0001627	intron_variant	7076				CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.453+140C>T	X.37:g.47445206C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14252|Q9UCU1	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP	p.S192F	ENST00000218388.4	37	c.575	CCDS14281.1	X	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650678	0.47362	.	.	ENSG00000102265	ENST00000377018	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	T	0.62539	0.2436	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.50268	-0.8848	6	.	.	.	.	10.3906	0.44166	0.0:1.0:0.0:0.0	.	192	B4DJK3	.	F	192	.	.	S	+	2	0	TIMP1	47330150	0.181000	0.23161	0.079000	0.20413	0.026000	0.11368	0.897000	0.28390	2.209000	0.71365	0.519000	0.50382	TCT	TIMP1	-	NULL		0.567	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	HGNC	protein_coding	OTTHUMT00000056423.1	C	NM_003254		47445206	+1	no_errors	ENST00000377018	ensembl	human	known	70_37	missense	SNP	0.073	T
TLR1	7096	genome.wustl.edu	37	4	38799315	38799315	+	Missense_Mutation	SNP	G	G	C	rs200264939		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:38799315G>C	ENST00000502213.2	-	3	1367	c.1138C>G	c.(1138-1140)Caa>Gaa	p.Q380E	TLR1_ENST00000308979.2_Missense_Mutation_p.Q380E			Q15399	TLR1_HUMAN	toll-like receptor 1	380					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						TGATTCATTTGTAAAATAAGT	0.343																																					GBM(5;216 373 40795 46382)												0													39.0	41.0	40.0					4																	38799315		2199	4300	6499	SO:0001583	missense	7096			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.1138C>G	4.37:g.38799315G>C	ENSP00000421259:p.Gln380Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1	p.Q380E	ENST00000502213.2	37	c.1138	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936089	0.18206	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.17691	2.26;2.26	5.06	3.24	0.37175	.	0.446281	0.20633	N	0.088543	T	0.15089	0.0364	L	0.33485	1.01	0.25388	N	0.988559	B	0.24533	0.105	B	0.28784	0.094	T	0.19582	-1.0301	10	0.72032	D	0.01	.	11.8371	0.52330	0.0:0.1333:0.7281:0.1386	.	380	Q15399	TLR1_HUMAN	E	380	ENSP00000354932:Q380E;ENSP00000421259:Q380E	ENSP00000354932:Q380E	Q	-	1	0	TLR1	38475710	0.001000	0.12720	0.648000	0.29521	0.079000	0.17450	0.230000	0.17852	0.756000	0.33013	0.655000	0.94253	CAA	TLR1	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor		0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	G			38799315	-1	no_errors	ENST00000308979	ensembl	human	known	70_37	missense	SNP	0.968	C
TLR3	7098	genome.wustl.edu	37	4	187004428	187004428	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:187004428G>A	ENST00000296795.3	+	4	1692	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	TLR3_ENST00000504367.1_Missense_Mutation_p.E253K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	530					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GGAGGGTCTTGAGAAACTAGA	0.438																																																	0													114.0	112.0	113.0					4																	187004428		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1588G>A	4.37:g.187004428G>A	ENSP00000296795:p.Glu530Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E530K	ENST00000296795.3	37	c.1588	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	8.807	0.934306	0.18206	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.56941	0.43;0.43	5.67	4.83	0.62350	.	0.894071	0.10090	N	0.717321	T	0.35307	0.0927	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.17433	0.018	T	0.16689	-1.0394	10	0.10902	T	0.67	.	11.9153	0.52761	0.0:0.3162:0.566:0.1178	.	530	O15455	TLR3_HUMAN	K	530;530;253	ENSP00000296795:E530K;ENSP00000423684:E253K	ENSP00000296795:E530K	E	+	1	0	TLR3	187241422	0.001000	0.12720	0.538000	0.28064	0.894000	0.52154	0.367000	0.20382	1.395000	0.46643	0.557000	0.71058	GAG	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.438	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	G			187004428	+1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.000	A
TLR9	54106	genome.wustl.edu	37	3	52257135	52257135	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:52257135C>G	ENST00000360658.2	-	2	1830	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	TLR9_ENST00000597542.1_Missense_Mutation_p.Q423H|TLR9_ENST00000494383.1_Missense_Mutation_p.D553H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	399					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	TGAAGTTCATCTGCAGACGCA	0.627																																																	0													63.0	65.0	65.0					3																	52257135		2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1197G>C	3.37:g.52257135C>G	ENSP00000353874:p.Gln399His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.Q423H	ENST00000360658.2	37	c.1269	CCDS2848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392197|3.392197	0.62066|0.62066	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.41758	.|0.99	5.08|5.08	0.953|0.953	0.19590|0.19590	.|.	.|0.000000	.|0.36374	.|N	.|0.002631	T|T	0.41719|0.41719	0.1171|0.1171	L|L	0.42245|0.42245	1.32|1.32	0.30138|0.30138	N|N	0.804168|0.804168	.|D;P	.|0.57899	.|0.981;0.944	.|P;P	.|0.55161	.|0.687;0.77	T|T	0.37197|0.37197	-0.9716|-0.9716	5|9	.|.	.|.	.|.	.|.	6.7039|6.7039	0.23240|0.23240	0.0:0.6271:0.1298:0.2431|0.0:0.6271:0.1298:0.2431	.|.	.|496;399	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	H|H	553|399	.|ENSP00000353874:Q399H	.|.	D|Q	-|-	1|3	0|2	RP11-330H6.5|TLR9	52232175|52232175	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.786000|0.786000	0.44442|0.44442	-1.438000|-1.438000	0.02416|0.02416	0.247000|0.247000	0.21414|0.21414	-0.137000|-0.137000	0.14449|0.14449	GAT|CAG	TLR9	-	smart_Leu-rich_rpt_typical-subtyp		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	HGNC	protein_coding	OTTHUMT00000350203.1	C			52257135	-1	no_errors	ENST00000597542	ensembl	human	known	70_37	missense	SNP	0.992	G
TM2D1	83941	genome.wustl.edu	37	1	62190936	62190936	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:62190936G>A	ENST00000294613.5	-	0	159				TM2D1_ENST00000371177.2_5'Flank|TM2D1_ENST00000606498.1_5'Flank|TM2D1_ENST00000371180.2_Missense_Mutation_p.H15Y			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						TTCTGCCCGTGAGCCCGTGGA	0.552																																																	0																																										SO:0001623	5_prime_UTR_variant	83941			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000294613.5:c.-144C>T	1.37:g.62190936G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDA8	Missense_Mutation	SNP	pfam_TM2	p.H15Y	ENST00000294613.5	37	c.43		1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649864	0.29336	.	.	ENSG00000162604	ENST00000371180	.	.	.	3.27	-1.26	0.09376	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	T	0.41197	-0.9522	5	0.87932	D	0	2.974	4.4858	0.11788	0.262:0.2312:0.5068:0.0	.	.	.	.	Y	15	.	ENSP00000360222:H15Y	H	-	1	0	TM2D1	61963524	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.910000	0.04054	-0.238000	0.09724	0.456000	0.33151	CAC	TM2D1	-	NULL		0.552	TM2D1-201	KNOWN	basic|appris_principal	protein_coding	TM2D1	HGNC	protein_coding		G	NM_032027		62190936	-1	no_errors	ENST00000371180	ensembl	human	known	70_37	missense	SNP	0.000	A
TMCO3	55002	genome.wustl.edu	37	13	114150193	114150193	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr13:114150193C>T	ENST00000434316.2	+	2	656	c.297C>T	c.(295-297)ttC>ttT	p.F99F	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.F99F	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	99						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTGAAATTTTCCAGAAAGAGC	0.458																																																	0													55.0	57.0	56.0					13																	114150193		2203	4300	6503	SO:0001819	synonymous_variant	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.297C>T	13.37:g.114150193C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	pfam_Cation/H_exchanger	p.F99	ENST00000434316.2	37	c.297	CCDS9537.1	13																																																																																			TMCO3	-	NULL		0.458	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	C	NM_017905		114150193	+1	no_errors	ENST00000434316	ensembl	human	known	70_37	silent	SNP	1.000	T
TMED4	222068	genome.wustl.edu	37	7	44621746	44621746	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:44621746G>A	ENST00000457408.2	-	1	112	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TMED4_ENST00000289577.5_Silent_p.L20L|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Silent_p.L20L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	20					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGCACAGCGCGAGAAGCAGCA	0.672																																																	0													14.0	13.0	14.0					7																	44621746		2128	4139	6267	SO:0001819	synonymous_variant	222068			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.60C>T	7.37:g.44621746G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	pfam_GOLD,pfscan_GOLD	p.L20	ENST00000457408.2	37	c.60	CCDS5493.1	7																																																																																			TMED4	-	NULL		0.672	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED4	HGNC	protein_coding	OTTHUMT00000251290.1	G	NM_182547		44621746	-1	no_errors	ENST00000457408	ensembl	human	known	70_37	silent	SNP	0.000	A
TMEM121	80757	genome.wustl.edu	37	14	105995723	105995723	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:105995723C>G	ENST00000392519.2	+	2	716	c.552C>G	c.(550-552)ttC>ttG	p.F184L	TMEM121_ENST00000431372.1_Missense_Mutation_p.F184L	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	184						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCCTCACCTTCTTCTACTGCT	0.667																																																	0													13.0	14.0	14.0					14																	105995723		2003	3800	5803	SO:0001583	missense	80757				CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.552C>G	14.37:g.105995723C>G	ENSP00000376304:p.Phe184Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.F184L	ENST00000392519.2	37	c.552	CCDS10006.1	14	.	.	.	.	.	.	.	.	.	.	c	18.81	3.703518	0.68501	.	.	ENSG00000184986	ENST00000392519;ENST00000431372	.	.	.	4.29	0.785	0.18584	.	0.000000	0.85682	U	0.000000	T	0.45175	0.1329	L	0.32530	0.975	0.51233	D	0.999916	D	0.56287	0.975	P	0.52957	0.714	T	0.41592	-0.9500	9	0.72032	D	0.01	-6.964	4.2847	0.10850	0.0:0.4797:0.1818:0.3384	.	184	Q9BTD3	TM121_HUMAN	L	184	.	ENSP00000376304:F184L	F	+	3	2	TMEM121	105066768	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.727000	0.47311	0.753000	0.32945	0.306000	0.20318	TTC	TMEM121	-	NULL		0.667	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM121	HGNC	protein_coding	OTTHUMT00000074621.2	C	NM_025268		105995723	+1	no_errors	ENST00000392519	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM131	23505	genome.wustl.edu	37	2	98421889	98421889	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:98421889C>G	ENST00000186436.5	-	21	2462	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	745						integral component of membrane (GO:0016021)		p.G745L(1)|p.G745V(1)|p.G632L(1)|p.G632V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACACTGTAGTCCAGGATCAAA	0.403																																																	4	Substitution - Missense(4)	lung(4)											64.0	64.0	64.0					2																	98421889		1897	4127	6024	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2234G>C	2.37:g.98421889C>G	ENSP00000186436:p.Gly745Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.G745A	ENST00000186436.5	37	c.2234	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541378	0.27563	.	.	ENSG00000075568	ENST00000186436	T	0.28069	1.63	5.97	5.97	0.96955	.	0.143036	0.64402	D	0.000004	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.15052	0.012	T	0.11616	-1.0580	10	0.08179	T	0.78	-17.5255	15.8517	0.78937	0.0:0.8651:0.1349:0.0	.	745	Q92545	TM131_HUMAN	A	745	ENSP00000186436:G745A	ENSP00000186436:G745A	G	-	2	0	TMEM131	97788321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.566000	0.60843	2.829000	0.97493	0.655000	0.94253	GGA	TMEM131	-	NULL		0.403	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98421889	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM209	84928	genome.wustl.edu	37	7	129832592	129832592	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:129832592C>G	ENST00000397622.2	-	6	767	c.645G>C	c.(643-645)ttG>ttC	p.L215F	TMEM209_ENST00000336804.8_Missense_Mutation_p.L214F|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.L214F|TMEM209_ENST00000473456.1_Missense_Mutation_p.L215F	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	215	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGCGAGATCTCAATCCACTGC	0.453																																																	0													104.0	106.0	106.0					7																	129832592		1904	4127	6031	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.645G>C	7.37:g.129832592C>G	ENSP00000380747:p.Leu215Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.L215F	ENST00000397622.2	37	c.645	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763590	0.49574	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.73598	2.24	0.51767	D	0.999935	D;D	0.58268	0.977;0.982	P;P	0.60473	0.803;0.875	T	0.39418	-0.9615	10	0.32370	T	0.25	-12.4272	14.3345	0.66578	0.0:0.9267:0.0:0.0733	.	215;215	Q96SK2-3;Q96SK2	.;TM209_HUMAN	F	215;214;215;214	ENSP00000380747:L215F;ENSP00000419697:L214F;ENSP00000417258:L215F;ENSP00000338388:L214F	ENSP00000338388:L214F	L	-	3	2	TMEM209	129619828	1.000000	0.71417	0.857000	0.33713	0.260000	0.26232	1.577000	0.36515	2.835000	0.97688	0.591000	0.81541	TTG	TMEM209	-	pfam_Cytochrome_B561-rel		0.453	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	C	NM_032842		129832592	-1	no_errors	ENST00000397622	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM30B	161291	genome.wustl.edu	37	14	61747694	61747694	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:61747694T>C	ENST00000555868.1	-	1	864	c.172A>G	c.(172-174)Aac>Gac	p.N58D	TMEM30B_ENST00000557163.1_Intron|TMEM30B_ENST00000355702.2_Missense_Mutation_p.N58D	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	58					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		TTGATGCCGTTGGAGGAGTAG	0.711																																																	0													7.0	6.0	6.0					14																	61747694		1938	3861	5799	SO:0001583	missense	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.172A>G	14.37:g.61747694T>C	ENSP00000450842:p.Asn58Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR84|Q14D00	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.N58D	ENST00000555868.1	37	c.172	CCDS32093.1	14	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447899	0.43429	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	5.12	0.981	0.19756	.	0.297576	0.31685	N	0.007221	T	0.45074	0.1324	M	0.68317	2.08	0.31304	N	0.687959	P	0.35468	0.503	B	0.39119	0.291	T	0.50189	-0.8857	9	0.27785	T	0.31	-0.9127	11.0267	0.47748	0.0:0.0:0.4576:0.5424	.	58	Q3MIR4	CC50B_HUMAN	D	58	.	ENSP00000347930:N58D	N	-	1	0	TMEM30B	60817447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.728000	0.47319	0.251000	0.21505	-0.449000	0.05564	AAC	TMEM30B	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.711	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	T	XM_090844		61747694	-1	no_errors	ENST00000355702	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM30B	161291	genome.wustl.edu	37	14	61748261	61748261	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:61748261G>A	ENST00000555868.1	-	0	297				TMEM30B_ENST00000557163.1_5'Flank|TMEM30B_ENST00000355702.2_5'Flank	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B						lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GGCTGCCTCTGAGTGGCTCCT	0.597																																																	0																																										SO:0001623	5_prime_UTR_variant	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.-396C>T	14.37:g.61748261G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR84|Q14D00	RNA	SNP	-	NULL	ENST00000555868.1	37	NULL	CCDS32093.1	14																																																																																			TMEM30B	-	-		0.597	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	G	XM_090844		61748261	-1	no_errors	ENST00000554497	ensembl	human	known	70_37	rna	SNP	0.118	A
TMEM63B	55362	genome.wustl.edu	37	6	44116106	44116106	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:44116106G>A	ENST00000259746.9	+	13	1288	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TMEM63B_ENST00000323267.6_Missense_Mutation_p.E369K			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	369					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTTCCACAATGAGACTATCAC	0.577																																																	0													118.0	103.0	108.0					6																	44116106		2203	4300	6503	SO:0001583	missense	55362			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1105G>A	6.37:g.44116106G>A	ENSP00000259746:p.Glu369Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.E369K	ENST00000259746.9	37	c.1105	CCDS34461.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.158285|4.158285	0.78114|0.78114	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.29655|.	1.56;1.56|.	4.61|4.61	4.61|4.61	0.57282|0.57282	Domain of unknown function DUF221 (1);Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43322|0.43322	0.1242|0.1242	N|N	0.25485|0.25485	0.75|0.75	0.58432|0.58432	D|D	0.999998|0.999998	B;D|.	0.71674|.	0.309;0.998|.	B;D|.	0.80764|.	0.401;0.994|.	T|T	0.33266|0.33266	-0.9875|-0.9875	10|5	0.13108|.	T|.	0.6|.	.|.	16.9823|16.9823	0.86332|0.86332	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	369;369|.	Q5T3F8;Q5T3F8-2|.	TM63B_HUMAN;.|.	K|I	369|297	ENSP00000259746:E369K;ENSP00000327154:E369K|.	ENSP00000259746:E369K|.	E|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44224084|44224084	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	6.584000|6.584000	0.74057|0.74057	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GAG|ATG	TMEM63B	-	pfam_DUF221		0.577	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	G	XM_166410		44116106	+1	no_errors	ENST00000259746	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM63C	57156	genome.wustl.edu	37	14	77712334	77712334	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:77712334C>T	ENST00000298351.4	+	17	1644	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	500					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTGGTGTTCATGGTAGTCA	0.443																																																	0													324.0	301.0	308.0					14																	77712334		1992	4152	6144	SO:0001819	synonymous_variant	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1500C>T	14.37:g.77712334C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.F500	ENST00000298351.4	37	c.1500	CCDS45141.1	14																																																																																			TMEM63C	-	pfam_DUF221		0.443	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	C			77712334	+1	no_errors	ENST00000298351	ensembl	human	known	70_37	silent	SNP	1.000	T
TMOD1	7111	genome.wustl.edu	37	9	100328229	100328229	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr9:100328229G>A	ENST00000259365.4	+	7	931	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TMOD1_ENST00000395211.2_Missense_Mutation_p.V240M|TMOD1_ENST00000375175.1_Missense_Mutation_p.V113M	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	240					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TAATGACCCCGTGGCGTATGT	0.493																																																	0													195.0	199.0	198.0					9																	100328229		2203	4300	6503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.718G>A	9.37:g.100328229G>A	ENSP00000259365:p.Val240Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	pfam_Tropomodulin	p.V240M	ENST00000259365.4	37	c.718	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190929	0.58017	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92911	-3.13;-3.13;-3.13	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.95642	0.8583	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	D	0.95704	0.8752	10	0.51188	T	0.08	-20.6121	17.6093	0.88048	0.0:0.0:1.0:0.0	.	240	P28289	TMOD1_HUMAN	M	240;240;113	ENSP00000378637:V240M;ENSP00000259365:V240M;ENSP00000364318:V113M	ENSP00000259365:V240M	V	+	1	0	TMOD1	99368050	1.000000	0.71417	0.936000	0.37596	0.054000	0.15201	7.483000	0.81158	2.550000	0.86006	0.561000	0.74099	GTG	TMOD1	-	NULL		0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	G	NM_003275		100328229	+1	no_errors	ENST00000259365	ensembl	human	known	70_37	missense	SNP	1.000	A
TMSB4X	7114	genome.wustl.edu	37	X	12994420	12994420	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:12994420G>A	ENST00000380635.1	+	2	256	c.40G>A	c.(40-42)Gat>Aat	p.D14N	TMSB4X_ENST00000380636.1_Missense_Mutation_p.D14N|TMSB4X_ENST00000451311.2_Missense_Mutation_p.D14N|TMSB4X_ENST00000380633.1_Missense_Mutation_p.D14N			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	14					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	poly(A) RNA binding (GO:0044822)			upper_aerodigestive_tract(1)	1						CGAGAAATTCGATAAGTCGAA	0.522																																																	0													65.0	62.0	63.0					X																	12994420		2203	4297	6500	SO:0001583	missense	7114				CCDS35202.1	Xp22.2	2013-05-14	2008-02-25		ENSG00000205542	ENSG00000205542			11881	protein-coding gene	gene with protein product		300159	"""thymosin, beta 4, X chromosome"""	TMSB4		2677145, 9381176	Standard	NM_021109		Approved	TB4X	uc004cvf.3	P62328	OTTHUMG00000021144	ENST00000380635.1:c.40G>A	X.37:g.12994420G>A	ENSP00000370009:p.Asp14Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P01253|P01254|Q546P5|Q63576|Q9UE55	Missense_Mutation	SNP	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata	p.D14N	ENST00000380635.1	37	c.40	CCDS35202.1	X	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001010	0.54254	.	.	ENSG00000205542	ENST00000451311;ENST00000380636;ENST00000380635;ENST00000380633	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000008	T	0.68293	0.2985	.	.	.	0.44603	D	0.997578	D	0.89917	1.0	D	0.91635	0.999	T	0.66444	-0.5922	9	0.30078	T	0.28	-4.4309	13.7602	0.62961	0.0:0.0:0.846:0.154	.	14	P62328	TYB4_HUMAN	N	14	ENSP00000414376:D14N;ENSP00000370010:D14N;ENSP00000370009:D14N;ENSP00000370007:D14N	ENSP00000370007:D14N	D	+	1	0	TMSB4X	12904341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.754000	0.91642	2.064000	0.61679	0.600000	0.82982	GAT	TMSB4X	-	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata		0.522	TMSB4X-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TMSB4X	HGNC	protein_coding	OTTHUMT00000055779.1	G	NM_021109		12994420	+1	no_errors	ENST00000380633	ensembl	human	known	70_37	missense	SNP	1.000	A
TNFRSF12A	51330	genome.wustl.edu	37	16	3071661	3071661	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:3071661G>A	ENST00000326577.4	+	3	391	c.305G>A	c.(304-306)aGa>aAa	p.R102K	TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.R67K|THOC6_ENST00000326266.8_5'Flank|CLDN6_ENST00000396925.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000574549.1_5'Flank|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.R53K|TNFRSF12A_ENST00000575124.1_Silent_p.E156E	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	102					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						TTGGTCTGGAGACGATGCCGC	0.622											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	65.0	70.0					16																	3071661		2198	4300	6498	SO:0001583	missense	51330			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.305G>A	16.37:g.3071661G>A	ENSP00000326737:p.Arg102Lys	Somatic	608	WXS	Illumina HiSeq	Phase_IV	D3DUA6|Q9HCS0	Missense_Mutation	SNP	pfam_TNFR_12,prints_TNFR_12	p.R102K	ENST00000326577.4	37	c.305	CCDS10489.1	16	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761183	0.69763	.	.	ENSG00000006327	ENST00000326577;ENST00000341627	.	.	.	4.58	4.58	0.56647	.	0.090990	0.48767	D	0.000176	T	0.60881	0.2303	L	0.29908	0.895	0.80722	D	1	D;D	0.61080	0.986;0.989	P;D	0.64321	0.876;0.924	T	0.58059	-0.7703	9	0.33940	T	0.23	-3.5368	12.7699	0.57415	0.0:0.0:1.0:0.0	.	67;102	Q9NP84-2;Q9NP84	.;TNR12_HUMAN	K	102;67	.	ENSP00000326737:R102K	R	+	2	0	TNFRSF12A	3011662	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.793000	0.26944	2.375000	0.81037	0.561000	0.74099	AGA	TNFRSF12A	-	pfam_TNFR_12		0.622	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF12A	HGNC	protein_coding	OTTHUMT00000250990.1	G			3071661	+1	no_errors	ENST00000326577	ensembl	human	known	70_37	missense	SNP	1.000	A
TNRC18	84629	genome.wustl.edu	37	7	5410013	5410013	+	Missense_Mutation	SNP	C	C	G	rs200279443	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:5410013C>G	ENST00000430969.1	-	11	4560	c.4212G>C	c.(4210-4212)gaG>gaC	p.E1404D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1404D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1404							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CACCTCCCATCTCTTGGCTCC	0.562													C|||	7	0.00139776	0.0008	0.0014	5008	,	,		19366	0.001		0.001	False		,,,				2504	0.0031																0								C	ASP/GLU	3,4169		0,3,2083	34.0	35.0	35.0		4212	1.1	0.5	7		35	16,8192		0,16,4088	yes	missense	TNRC18	NM_001080495.2	45	0,19,6171	GG,GC,CC		0.1949,0.0719,0.1535	benign	1404/2969	5410013	19,12361	2086	4104	6190	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4212G>C	7.37:g.5410013C>G	ENSP00000395538:p.Glu1404Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1404D	ENST00000430969.1	37	c.4212	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074579	0.08485	7.19E-4	0.001949	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.15139	2.46;2.45	4.72	1.13	0.20643	.	0.487974	0.15254	N	0.272151	T	0.15652	0.0377	M	0.66939	2.045	0.28147	N	0.929546	B	0.27351	0.176	B	0.26517	0.07	T	0.16276	-1.0408	10	0.32370	T	0.25	.	4.5874	0.12289	0.0:0.3876:0.3987:0.2137	.	1404	O15417	TNC18_HUMAN	D	1404;1404;459	ENSP00000382452:E1404D;ENSP00000395538:E1404D	ENSP00000382452:E1404D	E	-	3	2	TNRC18	5376539	0.532000	0.26346	0.521000	0.27850	0.268000	0.26511	0.776000	0.26704	0.345000	0.23873	0.313000	0.20887	GAG	TNRC18	-	NULL		0.562	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		C			5410013	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.434	G
TNS3	64759	genome.wustl.edu	37	7	47323459	47323459	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:47323459G>A	ENST00000398879.1	-	28	4299	c.3933C>T	c.(3931-3933)tgC>tgT	p.C1311C	TNS3_ENST00000355730.3_Silent_p.C1071C|TNS3_ENST00000311160.9_Silent_p.C1311C			Q68CZ2	TENS3_HUMAN	tensin 3	1311					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCACACATTGCAGGCTGGAA	0.552																																																	0													73.0	76.0	75.0					7																	47323459		2100	4240	6340	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3933C>T	7.37:g.47323459G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.C1311	ENST00000398879.1	37	c.3933	CCDS5506.2	7																																																																																			TNS3	-	pfam_PTB,smart_PTyr_interaction_dom		0.552	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47323459	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	1.000	A
TOMM22	56993	genome.wustl.edu	37	22	39078412	39078412	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:39078412G>C	ENST00000216034.4	+	2	233	c.202G>C	c.(202-204)Gat>Cat	p.D68H	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	68					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					AGCCACTTTTGATCTTTCCCT	0.562																																																	0													67.0	69.0	68.0					22																	39078412		2203	4300	6503	SO:0001583	missense	56993			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.202G>C	22.37:g.39078412G>C	ENSP00000216034:p.Asp68His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tom22	p.D68H	ENST00000216034.4	37	c.202	CCDS13975.1	22	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345315	0.61073	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.4	5.4	0.78164	.	0.095319	0.64402	D	0.000001	T	0.62048	0.2396	L	0.58428	1.81	0.58432	D	0.999997	B	0.26002	0.139	B	0.24541	0.054	T	0.60372	-0.7276	9	0.48119	T	0.1	-5.8808	19.1664	0.93559	0.0:0.0:1.0:0.0	.	68	Q9NS69	TOM22_HUMAN	H	68	.	ENSP00000216034:D68H	D	+	1	0	TOMM22	37408358	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.134000	0.64770	2.519000	0.84933	0.563000	0.77884	GAT	TOMM22	-	pfam_Tom22		0.562	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM22	HGNC	protein_coding	OTTHUMT00000320842.1	G			39078412	+1	no_errors	ENST00000216034	ensembl	human	known	70_37	missense	SNP	1.000	C
TPD52	7163	genome.wustl.edu	37	8	80976814	80976814	+	Missense_Mutation	SNP	C	C	G	rs35099105	byFrequency	TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr8:80976814C>G	ENST00000379097.3	-	2	516	c.154G>C	c.(154-156)Gac>Cac	p.D52H	TPD52_ENST00000520527.1_Missense_Mutation_p.D52H|TPD52_ENST00000379096.5_Missense_Mutation_p.D12H|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Missense_Mutation_p.D52H|TPD52_ENST00000448733.2_Missense_Mutation_p.D52H|TPD52_ENST00000518937.1_Missense_Mutation_p.D12H|TPD52_ENST00000517427.1_Missense_Mutation_p.D52H	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	52			D -> Y (in dbSNP:rs35099105).		anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGGACTGGGTCTGTTCTCAGC	0.458																																																	0													147.0	137.0	140.0					8																	80976814		2203	4300	6503	SO:0001583	missense	7163			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.154G>C	8.37:g.80976814C>G	ENSP00000368391:p.Asp52His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold-like	p.D52H	ENST00000379097.3	37	c.154	CCDS34912.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.85|19.85	3.903989|3.903989	0.72754|0.72754	.|.	.|.	ENSG00000076554|ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097;ENST00000425513|ENST00000520795	T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.397014|.	0.28694|.	N|.	0.014441|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.68593|0.68593	2.085|2.085	0.36385|0.36385	D|D	0.862143|0.862143	D;D;D|.	0.62365|.	0.972;0.991;0.982|.	P;D;D|.	0.65773|.	0.714;0.938;0.926|.	T|T	0.77194|0.77194	-0.2677|-0.2677	10|5	0.87932|.	D|.	0|.	-20.2564|-20.2564	16.1575|16.1575	0.81676|0.81676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	12;12;52|.	P55327-2;E5RKB4;P55327|.	.;.;TPD52_HUMAN|.	H|H	52;12;12;52;52;52;52;52;12|64	ENSP00000438113:D52H;ENSP00000368390:D12H;ENSP00000429915:D12H;ENSP00000429309:D52H;ENSP00000429351:D52H;ENSP00000410222:D52H;ENSP00000368391:D52H|.	ENSP00000368390:D12H|.	D|Q	-|-	1|3	0|2	TPD52|TPD52	81139369|81139369	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.886000|0.886000	0.51366|0.51366	2.876000|2.876000	0.48498|0.48498	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAC|CAG	TPD52	-	pfam_TPD52		0.458	TPD52-006	KNOWN	basic|CCDS	protein_coding	TPD52	HGNC	protein_coding	OTTHUMT00000379539.2	C	NM_005079		80976814	-1	no_errors	ENST00000537855	ensembl	human	known	70_37	missense	SNP	1.000	G
TPH1	7166	genome.wustl.edu	37	11	18042628	18042628	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:18042628C>G	ENST00000250018.2	-	10	1807	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.K415N|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	415					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.K415N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGGTTATGCTCTTGGTGTCTT	0.418																																																	1	Substitution - Missense(1)	breast(1)											251.0	243.0	245.0					11																	18042628		2200	4293	6493	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1245G>C	11.37:g.18042628C>G	ENSP00000250018:p.Lys415Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.K415N	ENST00000250018.2	37	c.1245	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857192	0.51376	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99548	-6.14;-6.14	5.53	3.6	0.41247	Aromatic amino acid hydroxylase, C-terminal (3);	0.473548	0.24769	N	0.035746	D	0.98153	0.9390	L	0.49126	1.545	0.46241	D	0.998947	B	0.09022	0.002	B	0.15870	0.014	D	0.96986	0.9718	10	0.33940	T	0.23	-2.3899	7.1605	0.25661	0.1358:0.7184:0.0:0.1458	.	415	P17752	TPH1_HUMAN	N	415	ENSP00000250018:K415N;ENSP00000343550:K415N	ENSP00000250018:K415N	K	-	3	2	TPH1	17999204	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.502000	0.22594	0.764000	0.33197	0.650000	0.86243	AAG	TPH1	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.418	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	C	NM_004179		18042628	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	missense	SNP	1.000	G
TPST2	8459	genome.wustl.edu	37	22	26937096	26937096	+	Silent	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr22:26937096G>T	ENST00000338754.4	-	3	771	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TPST2_ENST00000403880.1_Silent_p.V167V|TPST2_ENST00000398110.2_Silent_p.V167V	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	167					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCGACAGGTAGACCGAGGACT	0.627																																																	0													99.0	74.0	83.0					22																	26937096		2203	4300	6503	SO:0001819	synonymous_variant	8459			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.501C>A	22.37:g.26937096G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	pfam_Sulfotransferase_dom	p.V167	ENST00000338754.4	37	c.501	CCDS13839.1	22																																																																																			TPST2	-	pfam_Sulfotransferase_dom		0.627	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	G	NM_003595		26937096	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	silent	SNP	0.936	T
TRANK1	9881	genome.wustl.edu	37	3	36905816	36905816	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:36905816G>A	ENST00000429976.2	-	9	1349	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	368							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTACCTTGCAGAGTAGAAAGG	0.323																																																	0													92.0	78.0	83.0					3																	36905816		692	1591	2283	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1102C>T	3.37:g.36905816G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L368	ENST00000429976.2	37	c.1102	CCDS46789.2	3																																																																																			TRANK1	-	superfamily_Ankyrin_rpt-contain_dom		0.323	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36905816	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	0.747	A
TRIB3	57761	genome.wustl.edu	37	20	377073	377073	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:377073G>C	ENST00000217233.3	+	4	1369	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TRIB3_ENST00000422053.2_Missense_Mutation_p.K299N	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TCTTCGGCAAGATCCGCCGCG	0.687																																					Melanoma(101;421 2374 19538)												0													53.0	52.0	52.0					20																	377073		2203	4300	6503	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.816G>C	20.37:g.377073G>C	ENSP00000217233:p.Lys272Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.K299N	ENST00000217233.3	37	c.897	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081492	0.76528	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.66460	-0.21;-0.21	5.23	4.28	0.50868	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	T	0.80314	0.4600	M	0.78801	2.425	0.46725	D	0.999175	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82396	-0.0478	10	0.87932	D	0	-39.7954	11.2605	0.49080	0.0871:0.0:0.9129:0.0	.	299;272	B4DMM9;Q96RU7	.;TRIB3_HUMAN	N	272;299	ENSP00000217233:K272N;ENSP00000415416:K299N	ENSP00000217233:K272N	K	+	3	2	TRIB3	325073	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.857000	0.39399	1.437000	0.47472	0.655000	0.94253	AAG	TRIB3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	G	NM_021158		377073	+1	no_errors	ENST00000422053	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIM28	10155	genome.wustl.edu	37	19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:59056853C>A	ENST00000253024.5	+	2	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	134	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552																																																	0													91.0	98.0	96.0					19																	59056853		2203	4299	6502	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.402C>A	19.37:g.59056853C>A	ENSP00000253024:p.Phe134Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.F134L	ENST00000253024.5	37	c.402	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158697	0.78226	.	.	ENSG00000130726	ENST00000253024	T	0.66099	-0.19	4.36	-4.31	0.03698	.	0.000000	0.51477	D	0.000086	T	0.57519	0.2059	N	0.20986	0.625	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60845	-0.7182	10	0.87932	D	0	-13.804	13.3061	0.60352	0.0:0.7558:0.0:0.2442	.	134	Q13263	TIF1B_HUMAN	L	134	ENSP00000253024:F134L	ENSP00000253024:F134L	F	+	3	2	TRIM28	63748665	0.025000	0.19082	0.608000	0.28969	0.945000	0.59286	-1.557000	0.02166	-0.800000	0.04433	-0.389000	0.06534	TTC	TRIM28	-	NULL		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	C	NM_005762		59056853	+1	no_errors	ENST00000253024	ensembl	human	known	70_37	missense	SNP	0.974	A
TRIM33	51592	genome.wustl.edu	37	1	114940291	114940291	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:114940291C>G	ENST00000358465.2	-	20	3446	c.3363G>C	c.(3361-3363)gaG>gaC	p.E1121D	TRIM33_ENST00000450349.2_Missense_Mutation_p.E753D|TRIM33_ENST00000369543.2_Missense_Mutation_p.E1104D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1121					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		GTACTGGTCTCTCATCTGACT	0.343			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													111.0	115.0	114.0					1																	114940291		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3363G>C	1.37:g.114940291C>G	ENSP00000351250:p.Glu1121Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.E1121D	ENST00000358465.2	37	c.3363	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.873379|1.873379	0.33069|0.33069	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.76968|.	-0.91;-0.85;-1.06|.	5.46|5.46	2.54|2.54	0.30619|0.30619	.|.	0.091251|.	0.85682|.	N|.	0.000000|.	T|T	0.31544|0.31544	0.0800|0.0800	L|L	0.31420|0.31420	0.93|0.93	0.53688|0.53688	D|D	0.999977|0.999977	B;B;B;B|.	0.23128|.	0.0;0.001;0.08;0.009|.	B;B;B;B|.	0.42343|.	0.0;0.001;0.384;0.007|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|5	0.49607|.	T|.	0.09|.	-6.9248|-6.9248	8.7521|8.7521	0.34622|0.34622	0.0:0.7379:0.1254:0.1367|0.0:0.7379:0.1254:0.1367	.|.	753;753;1104;1121|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	D|T	1121;1104;753|882	ENSP00000351250:E1121D;ENSP00000358556:E1104D;ENSP00000412077:E753D|.	ENSP00000351250:E1121D|.	E|R	-|-	3|2	2|0	TRIM33|TRIM33	114741814|114741814	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.461000|0.461000	0.21940|0.21940	0.347000|0.347000	0.23924|0.23924	0.650000|0.650000	0.86243|0.86243	GAG|AGA	TRIM33	-	NULL		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	C	NM_015906		114940291	-1	no_errors	ENST00000358465	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP4	9325	genome.wustl.edu	37	15	64680166	64680166	+	Intron	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:64680166G>C	ENST00000261884.3	+	1	161				TRIP4_ENST00000559565.1_Intron|KIAA0101_ENST00000558250.1_5'Flank	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATCATTCAGTGAGAACAGTTC	0.602																																																	0													42.0	34.0	37.0					15																	64680166		2078	4031	6109	SO:0001627	intron_variant	9325			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.101+3G>C	15.37:g.64680166G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAS0|Q96ED7|Q9UKH0	RNA	SNP	-	NULL	ENST00000261884.3	37	NULL	CCDS10194.1	15																																																																																			TRIP4	-	-		0.602	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2	G	NM_016213		64680166	+1	no_errors	ENST00000557834	ensembl	human	known	70_37	rna	SNP	1.000	C
AVIL	10677	genome.wustl.edu	37	12	58190249	58190249	+	IGR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:58190249G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000454289.3_Silent_p.P287P|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000323833.8_Silent_p.P308P|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000350762.5_Silent_p.P247P	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGTCCCAGCCGTATTTGCTGG	0.592																																																	0													66.0	57.0	60.0					12																	58190249		2203	4300	6503	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190249G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAU7|Q2NKM9	Silent	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N	p.P308	ENST00000257861.3	37	c.924	CCDS8959.1	12																																																																																			TSFM	-	pfam_Transl_elong_EFTs/EF1B_dimer		0.592	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409276.1	G	NM_006576		58190249	+1	no_errors	ENST00000323833	ensembl	human	known	70_37	silent	SNP	0.000	A
TRPV4	59341	genome.wustl.edu	37	12	110221470	110221470	+	Nonsense_Mutation	SNP	G	G	A	rs144477274		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr12:110221470G>A	ENST00000418703.2	-	15	2666	c.2572C>T	c.(2572-2574)Cag>Tag	p.Q858*	TRPV4_ENST00000544971.1_Nonsense_Mutation_p.Q751*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q824*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q798*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q798*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.Q811*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q858*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.Q811*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	858					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGGTAACCCTGCTGGTGGCCA	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17007	0.0		0.0	False		,,,				2504	0.0																0								G	stop/GLN,stop/GLN,stop/GLN,stop/GLN,stop/GLN	1,4405	2.1+/-5.4	0,1,2202	60.0	52.0	55.0		2431,2470,2251,2572,2392	5.1	1.0	12	dbSNP_134	55	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	811/825,824/838,751/765,858/872,798/812	110221470	1,13005	2203	4300	6503	SO:0001587	stop_gained	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2572C>T	12.37:g.110221470G>A	ENSP00000406191:p.Gln858*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Nonsense_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_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.Q858*	ENST00000418703.2	37	c.2572	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.669652	0.97751	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	.	.	.	5.11	5.11	0.69529	.	0.098661	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-2.6765	17.0691	0.86568	0.0:0.0:1.0:0.0	.	.	.	.	X	858;858;811;798;751;798;811;824	.	ENSP00000261740:Q858X	Q	-	1	0	TRPV4	108705853	0.958000	0.32768	0.998000	0.56505	0.974000	0.67602	4.295000	0.59049	2.369000	0.80426	0.511000	0.50034	CAG	TRPV4	-	NULL		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110221470	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	nonsense	SNP	0.901	A
TSHR	7253	genome.wustl.edu	37	14	81534646	81534646	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:81534646C>T	ENST00000541158.2	+	4	613	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TSHR_ENST00000342443.6_Silent_p.F97F|TSHR_ENST00000554435.1_Silent_p.F97F|TSHR_ENST00000298171.2_Silent_p.F97F|TSHR_ENST00000554263.1_Silent_p.F97F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	97					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACACTCCTTCTACAATTTGA	0.398			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													113.0	99.0	104.0					14																	81534646		2203	4300	6503	SO:0001819	synonymous_variant	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.291C>T	14.37:g.81534646C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.F97	ENST00000541158.2	37	c.291	CCDS9872.1	14																																																																																			TSHR	-	NULL		0.398	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	C	NM_000369		81534646	+1	no_errors	ENST00000298171	ensembl	human	known	70_37	silent	SNP	1.000	T
TSPAN15	23555	genome.wustl.edu	37	10	71255381	71255381	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:71255381G>C	ENST00000373290.2	+	4	511	c.389G>C	c.(388-390)aGa>aCa	p.R130T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	130					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						AACATTCGAAGAGGAATTGAG	0.448																																																	0													123.0	114.0	117.0					10																	71255381		2203	4300	6503	SO:0001583	missense	23555			AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.389G>C	10.37:g.71255381G>C	ENSP00000362387:p.Arg130Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UW79	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.R130T	ENST00000373290.2	37	c.389	CCDS7294.1	10	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235817	0.58886	.	.	ENSG00000099282	ENST00000373290;ENST00000452130	D;D	0.86562	-2.14;-2.14	5.55	3.71	0.42584	Tetraspanin, EC2 domain (1);	0.097141	0.64402	D	0.000001	T	0.75258	0.3825	N	0.13140	0.3	0.44462	D	0.997394	P	0.39424	0.673	B	0.40256	0.324	T	0.68311	-0.5442	10	0.22109	T	0.4	-13.5013	8.9654	0.35874	0.2276:0.0:0.7724:0.0	.	130	O95858	TSN15_HUMAN	T	130;39	ENSP00000362387:R130T;ENSP00000404528:R39T	ENSP00000362387:R130T	R	+	2	0	TSPAN15	70925387	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.997000	0.70646	0.715000	0.32103	-0.136000	0.14681	AGA	TSPAN15	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.448	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN15	HGNC	protein_coding	OTTHUMT00000048444.1	G	NM_012339		71255381	+1	no_errors	ENST00000373290	ensembl	human	known	70_37	missense	SNP	1.000	C
TSPAN14	81619	genome.wustl.edu	37	10	82267046	82267046	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:82267046C>T	ENST00000429989.3	+	4	418	c.195C>T	c.(193-195)gtC>gtT	p.V65V	TSPAN14_ENST00000372158.1_Silent_p.V65V|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.V65V|TSPAN14_ENST00000372164.3_Silent_p.V48V|TSPAN14_ENST00000341863.6_Silent_p.V65V	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	65					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGTGCTGGTCCTGATGGTGG	0.602																																																	0													139.0	123.0	128.0					10																	82267046		2203	4300	6503	SO:0001819	synonymous_variant	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.195C>T	10.37:g.82267046C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V65	ENST00000429989.3	37	c.195	CCDS7369.1	10																																																																																			TSPAN14	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.602	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	C	NM_030927		82267046	+1	no_errors	ENST00000372156	ensembl	human	known	70_37	silent	SNP	1.000	T
TSPYL1	7259	genome.wustl.edu	37	6	116600170	116600170	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:116600170A>T	ENST00000368608.3	-	1	896	c.824T>A	c.(823-825)aTc>aAc	p.I275N	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	275					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GAAGCCCGGGATATTCTGAAT	0.522																																																	0													138.0	136.0	137.0					6																	116600170		2203	4300	6503	SO:0001583	missense	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.824T>A	6.37:g.116600170A>T	ENSP00000357597:p.Ile275Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.I275N	ENST00000368608.3	37	c.824	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	A	19.71	3.877901	0.72294	.	.	ENSG00000189241	ENST00000368608	T	0.43688	0.94	4.21	4.21	0.49690	.	0.000000	0.36066	N	0.002812	T	0.65217	0.2670	H	0.94264	3.515	0.51233	D	0.999915	D	0.76494	0.999	D	0.85130	0.997	T	0.73867	-0.3847	10	0.87932	D	0	-15.4531	9.9567	0.41671	1.0:0.0:0.0:0.0	.	275	Q9H0U9	TSYL1_HUMAN	N	275	ENSP00000357597:I275N	ENSP00000357597:I275N	I	-	2	0	TSPYL1	116706863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.169000	0.71913	2.125000	0.65367	0.379000	0.24179	ATC	TSPYL1	-	pfam_NAP_family		0.522	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	A			116600170	-1	no_errors	ENST00000368608	ensembl	human	known	70_37	missense	SNP	1.000	T
TSPYL6	388951	genome.wustl.edu	37	2	54482100	54482100	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:54482100C>T	ENST00000317802.7	-	1	1309	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	397					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TCCACTGGCTCCCTTACCAGG	0.532																																																	0													71.0	78.0	76.0					2																	54482100		2150	4286	6436	SO:0001583	missense	388951			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.1189G>A	2.37:g.54482100C>T	ENSP00000417919:p.Glu397Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.E397K	ENST00000317802.7	37	c.1189	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065640	0.55539	.	.	ENSG00000178021	ENST00000317802	T	0.18810	2.19	1.6	0.7	0.18099	.	.	.	.	.	T	0.29355	0.0731	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.10870	-1.0611	9	0.42905	T	0.14	.	3.9302	0.09281	0.0:0.7695:0.0:0.2305	.	397	Q8N831	TSYL6_HUMAN	K	397	ENSP00000417919:E397K	ENSP00000417919:E397K	E	-	1	0	TSPYL6	54335604	0.015000	0.18098	0.083000	0.20561	0.521000	0.34408	-0.185000	0.09684	0.242000	0.21303	0.591000	0.81541	GAG	TSPYL6	-	NULL		0.532	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3	C	XM_371494		54482100	-1	no_errors	ENST00000317802	ensembl	human	known	70_37	missense	SNP	0.126	T
TSSC4	10078	genome.wustl.edu	37	11	2424430	2424430	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:2424430G>C	ENST00000333256.6	+	3	1010	c.567G>C	c.(565-567)caG>caC	p.Q189H	AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000451491.2_Missense_Mutation_p.Q189H|TSSC4_ENST00000380996.5_Missense_Mutation_p.Q125H|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	189										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCTCCCAGAGCCTGGCTG	0.647																																																	0													34.0	33.0	33.0					11																	2424430		2202	4296	6498	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.567G>C	11.37:g.2424430G>C	ENSP00000331087:p.Gln189His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.Q189H	ENST00000333256.6	37	c.567	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847027	0.17034	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;1.48;0.87	3.67	-0.883	0.10600	.	1.673700	0.03362	N	0.197726	T	0.42063	0.1186	L	0.54323	1.7	0.09310	N	1	P;P	0.47677	0.899;0.899	P;P	0.44990	0.466;0.466	T	0.35450	-0.9788	10	0.41790	T	0.15	-2.5056	6.1827	0.20480	0.1909:0.4428:0.3662:0.0	.	189;125	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	H	125;189;189;125;189;189	ENSP00000370384:Q125H;ENSP00000331087:Q189H;ENSP00000396925:Q189H;ENSP00000416937:Q125H;ENSP00000435013:Q189H;ENSP00000411224:Q189H	ENSP00000331087:Q189H	Q	+	3	2	TSSC4	2381006	0.742000	0.28228	0.001000	0.08648	0.182000	0.23217	0.646000	0.24797	-0.257000	0.09459	-0.371000	0.07208	CAG	TSSC4	-	NULL		0.647	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424430	+1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.001	C
TTBK2	146057	genome.wustl.edu	37	15	43103915	43103915	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:43103915G>T	ENST00000267890.6	-	8	775	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TTBK2_ENST00000567274.1_Missense_Mutation_p.Q188K|TTBK2_ENST00000567840.1_Missense_Mutation_p.Q223K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAGGGCAGCTGACCAACCACA	0.358																																																	0													91.0	84.0	86.0					15																	43103915		1879	4125	6004	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.667C>A	15.37:g.43103915G>T	ENSP00000267890:p.Gln223Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q223K	ENST00000267890.6	37	c.667	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720676	0.89205	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.63255	-0.03	5.57	5.57	0.84162	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	0.64940	0.2644	N	0.11255	0.115	0.80722	D	1	D;D;P;D	0.60575	0.976;0.988;0.93;0.98	D;D;P;D	0.65684	0.928;0.937;0.79;0.928	T	0.72792	-0.4186	10	0.87932	D	0	.	19.5504	0.95315	0.0:0.0:1.0:0.0	.	203;154;223;223	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	K	223;153;203	ENSP00000267890:Q223K	ENSP00000263802:Q203K	Q	-	1	0	TTBK2	40891207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.701000	0.98710	2.612000	0.88384	0.655000	0.94253	CAG	TTBK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.358	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	G	NM_173500		43103915	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP70	118491	genome.wustl.edu	37	10	75051773	75051773	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:75051773C>G	ENST00000310715.3	-	18	2101		c.e18-1		TTC18_ENST00000355577.3_Splice_Site|TTC18_ENST00000493787.1_Splice_Site|TTC18_ENST00000401621.2_Splice_Site|TTC18_ENST00000394865.1_Splice_Site|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN								extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGACCAATCTCTAAGCATCAG	0.418																																																	0													141.0	134.0	136.0					10																	75051773		2203	4300	6503	SO:0001630	splice_region_variant	118491																														ENST00000310715.3:c.1981-1G>C	10.37:g.75051773C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Splice_Site	SNP	-	e17-1	ENST00000310715.3	37	c.1981-1	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587078	0.66105	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1684	0.86822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC18	74721779	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	6.574000	0.74014	2.713000	0.92767	0.655000	0.94253	.	TTC18	-	-		0.418	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		C		Intron	75051773	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CFAP46	54777	genome.wustl.edu	37	10	134621949	134621949	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:134621949C>T	ENST00000368586.5	-	58	8224	c.8124G>A	c.(8122-8124)caG>caA	p.Q2708Q	TTC40_ENST00000263170.5_Silent_p.Q869Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCTCACGGTCTGAATAGTCT	0.582																																																	0													90.0	104.0	99.0					10																	134621949		2203	4300	6503	SO:0001819	synonymous_variant	54777																														ENST00000368586.5:c.8124G>A	10.37:g.134621949C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.Q869	ENST00000368586.5	37	c.2607	CCDS58101.1	10																																																																																			TTC40	-	NULL		0.582	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	C			134621949	-1	no_errors	ENST00000263170	ensembl	human	known	70_37	silent	SNP	0.000	T
TTI1	9675	genome.wustl.edu	37	20	36641799	36641799	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:36641799C>T	ENST00000373448.2	-	3	658	c.420G>A	c.(418-420)ctG>ctA	p.L140L	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.L140L|TTI1_ENST00000449821.1_Silent_p.L140L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	140					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CATAAAAAGTCAGAATGATGT	0.448																																																	0													86.0	86.0	86.0					20																	36641799		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.420G>A	20.37:g.36641799C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L140	ENST00000373448.2	37	c.420	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36641799	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	silent	SNP	0.275	T
TTN	7273	genome.wustl.edu	37	2	179462437	179462437	+	Silent	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:179462437G>C	ENST00000591111.1	-	244	52673	c.52449C>G	c.(52447-52449)gtC>gtG	p.V17483V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V19124V|TTN_ENST00000342992.6_Silent_p.V16556V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V10251V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V10184V|TTN_ENST00000460472.2_Silent_p.V10059V			Q8WZ42	TITIN_HUMAN	titin	17483	Ig-like 103.				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)			TGTTCCAGGTGACGGTTGGAG	0.493																																																	0													157.0	141.0	146.0					2																	179462437		1984	4177	6161	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52449C>G	2.37:g.179462437G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V16556	ENST00000591111.1	37	c.49668		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179462437	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.986	C
TTN	7273	genome.wustl.edu	37	2	179481956	179481956	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:179481956G>A	ENST00000591111.1	-	205	43067	c.42843C>T	c.(42841-42843)acC>acT	p.T14281T	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.T15922T|TTN_ENST00000342992.6_Silent_p.T13354T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.T7049T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Silent_p.T6982T|TTN_ENST00000460472.2_Silent_p.T6857T|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14281	Fibronectin type-III 3. {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)			TTTCCAATCCGGTAACCTACG	0.328																																																	0													37.0	34.0	35.0					2																	179481956		1803	4047	5850	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42843C>T	2.37:g.179481956G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T13354	ENST00000591111.1	37	c.40062		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179481956	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.978	A
TWIST2	117581	genome.wustl.edu	37	2	239757039	239757039	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:239757039C>G	ENST00000448943.2	+	1	367	c.183C>G	c.(181-183)ttC>ttG	p.F61L		NM_057179.2	NP_476527.1	Q8WVJ9	TWST2_HUMAN	twist family bHLH transcription factor 2	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CGCAGTCCTTCGAGGAGCTGC	0.692																																																	0													27.0	30.0	29.0					2																	239757039		692	1591	2283	SO:0001583	missense	117581			BC017907	CCDS46558.1	2q37.3	2013-10-17	2013-10-17		ENSG00000233608	ENSG00000233608		"""Basic helix-loop-helix proteins"""	20670	protein-coding gene	gene with protein product		607556	"""twist homolog 2 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 2"""			7589808, 9061034	Standard	NM_057179		Approved	DERMO1, Dermo-1, bHLHa39	uc021vyw.2	Q8WVJ9	OTTHUMG00000152836	ENST00000448943.2:c.183C>G	2.37:g.239757039C>G	ENSP00000405176:p.Phe61Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYL6	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F61L	ENST00000448943.2	37	c.183	CCDS46558.1	2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245610	0.39697	.	.	ENSG00000233608	ENST00000448943	D	0.96992	-4.2	4.77	3.75	0.43078	.	.	.	.	.	D	0.90858	0.7128	N	0.25426	0.745	0.43308	D	0.995315	B	0.10296	0.003	B	0.09377	0.004	D	0.85873	0.1417	9	0.23302	T	0.38	.	8.1037	0.30872	0.0:0.7225:0.0:0.2775	.	61	Q8WVJ9	TWST2_HUMAN	L	61	ENSP00000405176:F61L	ENSP00000405176:F61L	F	+	3	2	TWIST2	.	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.227000	0.32576	2.172000	0.68678	0.467000	0.42956	TTC	TWIST2	-	NULL		0.692	TWIST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST2	HGNC	protein_coding	OTTHUMT00000393081.1	C			239757039	+1	no_errors	ENST00000448943	ensembl	human	known	70_37	missense	SNP	1.000	G
TYK2	7297	genome.wustl.edu	37	19	10472206	10472206	+	Silent	SNP	G	G	A	rs563722782		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:10472206G>A	ENST00000525621.1	-	14	2509	c.2028C>T	c.(2026-2028)gtC>gtT	p.V676V	TYK2_ENST00000529370.1_Silent_p.V676V|TYK2_ENST00000524462.1_Silent_p.V491V|TYK2_ENST00000264818.6_Silent_p.V676V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	676	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGCGCACACAGACGCCATGCA	0.637													g|||	1	0.000199681	0.0	0.0	5008	,	,		10736	0.0		0.001	False		,,,				2504	0.0																0													55.0	43.0	47.0					19																	10472206		1955	3812	5767	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2028C>T	19.37:g.10472206G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.V676	ENST00000525621.1	37	c.2028	CCDS12236.1	19																																																																																			TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	G			10472206	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	silent	SNP	0.988	A
UBR4	23352	genome.wustl.edu	37	1	19524208	19524208	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:19524208G>A	ENST00000375254.3	-	7	876	c.849C>T	c.(847-849)ttC>ttT	p.F283F	UBR4_ENST00000375226.2_Silent_p.F283F|UBR4_ENST00000375217.2_Silent_p.F283F|UBR4_ENST00000375267.2_Silent_p.F283F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGCATTATGAAGAAGGAAT	0.438																																																	0													190.0	180.0	183.0					1																	19524208		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.849C>T	1.37:g.19524208G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.F283	ENST00000375254.3	37	c.849	CCDS189.1	1																																																																																			UBR4	-	NULL		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19524208	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19524215	19524215	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:19524215G>A	ENST00000375254.3	-	7	869	c.842C>T	c.(841-843)tCc>tTc	p.S281F	UBR4_ENST00000375226.2_Missense_Mutation_p.S281F|UBR4_ENST00000375217.2_Missense_Mutation_p.S281F|UBR4_ENST00000375267.2_Missense_Mutation_p.S281F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	281					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TATGAAGAAGGAATTAGCTAA	0.423																																																	0													192.0	183.0	186.0					1																	19524215		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.842C>T	1.37:g.19524215G>A	ENSP00000364403:p.Ser281Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S281F	ENST00000375254.3	37	c.842	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517500	0.85495	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.24350	1.87;1.87;1.86;1.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.21143	-1.0254	10	0.66056	D	0.02	.	18.157	0.89694	0.0:0.0:1.0:0.0	.	281	Q5T4S7	UBR4_HUMAN	F	281	ENSP00000364403:S281F;ENSP00000364416:S281F;ENSP00000364365:S281F;ENSP00000364374:S281F	ENSP00000364365:S281F	S	-	2	0	UBR4	19396802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.630000	0.89119	0.650000	0.86243	TCC	UBR4	-	NULL		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19524215	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A
UAP1	6675	genome.wustl.edu	37	1	162569088	162569088	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:162569088G>A	ENST00000367925.1	+	10	1536	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	UAP1_ENST00000367926.4_Missense_Mutation_p.E485K|UAP1_ENST00000367924.1_Missense_Mutation_p.E501K|UAP1_ENST00000271469.3_Missense_Mutation_p.E502K			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	502					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGCAGATAAAGAATTCCATGC	0.368																																																	0													99.0	93.0	95.0					1																	162569088		2203	4300	6503	SO:0001583	missense	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1504G>A	1.37:g.162569088G>A	ENSP00000356902:p.Glu502Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.E502K	ENST00000367925.1	37	c.1504		1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716573	0.48622	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.55	5.55	0.83447	.	0.108147	0.64402	D	0.000006	T	0.08758	0.0217	L	0.45581	1.43	0.43688	D	0.996133	B	0.09022	0.002	B	0.06405	0.002	T	0.11518	-1.0584	9	0.18710	T	0.47	-19.2245	18.083	0.89447	0.0:0.0:1.0:0.0	.	485	Q16222-2	.	K	485;502;502;501	ENSP00000356903:E485K;ENSP00000271469:E502K;ENSP00000356902:E502K;ENSP00000356901:E501K	ENSP00000271469:E502K	E	+	1	0	UAP1	160835712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.678000	0.91211	2.611000	0.88343	0.655000	0.94253	GAA	UAP1	-	NULL		0.368	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	G	NM_003115		162569088	+1	no_errors	ENST00000271469	ensembl	human	known	70_37	missense	SNP	1.000	A
UEVLD	55293	genome.wustl.edu	37	11	18587959	18587959	+	Missense_Mutation	SNP	G	G	A	rs564664426		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr11:18587959G>A	ENST00000396197.3	-	5	456	c.428C>T	c.(427-429)tCt>tTt	p.S143F	UEVLD_ENST00000535484.1_Missense_Mutation_p.S105F|UEVLD_ENST00000543987.1_Missense_Mutation_p.S143F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_Missense_Mutation_p.S121F|UEVLD_ENST00000379387.4_Missense_Mutation_p.S121F|UEVLD_ENST00000300038.7_Missense_Mutation_p.S143F|UEVLD_ENST00000541984.1_Intron	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGATGATAGAGAATACATGGG	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17435	0.0		0.0	False		,,,				2504	0.001																0													93.0	94.0	94.0					11																	18587959		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.428C>T	11.37:g.18587959G>A	ENSP00000379500:p.Ser143Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.S143F	ENST00000396197.3	37	c.428	CCDS41624.1	11	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176083	0.57692	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.84370	-1.81;-1.78;-0.93;-1.84;-0.97	5.99	5.99	0.97316	Ubiquitin E2 variant, N-terminal (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.050848	0.85682	D	0.000000	D	0.93058	0.7790	M	0.82323	2.585	0.80722	D	1	D;P;P;D;P	0.61080	0.989;0.934;0.853;0.966;0.905	D;P;P;D;P	0.72982	0.979;0.841;0.679;0.971;0.797	D	0.93274	0.6654	10	0.87932	D	0	-5.2842	18.6582	0.91462	0.0:0.0:1.0:0.0	.	143;121;121;143;143	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	F	143;105;143;121;121;143	ENSP00000442974:S143F;ENSP00000441092:S105F;ENSP00000379500:S143F;ENSP00000323353:S121F;ENSP00000368697:S121F	ENSP00000300038:S143F	S	-	2	0	UEVLD	18544535	1.000000	0.71417	0.772000	0.31596	0.043000	0.13939	6.174000	0.71943	2.840000	0.97914	0.655000	0.94253	TCT	UEVLD	-	superfamily_UBQ-conjugating_enzyme/RWD		0.358	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395923.2	G	NM_018314		18587959	-1	no_errors	ENST00000396197	ensembl	human	known	70_37	missense	SNP	0.996	A
UGT2B11	10720	genome.wustl.edu	37	4	70079880	70079880	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70079880C>T	ENST00000446444.1	-	1	569	c.561G>A	c.(559-561)ctG>ctA	p.L187L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	187					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGGGAAAATCAGTCCTCCAC	0.413																																																	0													92.0	89.0	90.0					4																	70079880		2203	4297	6500	SO:0001819	synonymous_variant	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.561G>A	4.37:g.70079880C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNV9	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L187	ENST00000446444.1	37	c.561	CCDS3527.1	4																																																																																			UGT2B11	-	pfam_UDP_glucos_trans		0.413	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70079880	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	silent	SNP	0.544	T
UGT2B11	10720	genome.wustl.edu	37	4	70080030	70080030	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:70080030C>T	ENST00000446444.1	-	1	419	c.411G>A	c.(409-411)atG>atA	p.M137I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	137					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTAGTTTTTTCATAACTTTCT	0.348																																																	0													70.0	74.0	73.0					4																	70080030		2203	4297	6500	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.411G>A	4.37:g.70080030C>T	ENSP00000387683:p.Met137Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M137I	ENST00000446444.1	37	c.411	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	1.120	-0.655624	0.03480	.	.	ENSG00000213759	ENST00000446444	T	0.60040	0.22	1.96	1.96	0.26148	.	0.286793	0.30338	U	0.009850	T	0.45577	0.1349	L	0.41079	1.255	0.09310	N	1	B	0.16396	0.017	B	0.25405	0.06	T	0.37549	-0.9701	10	0.34782	T	0.22	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	137	O75310	UDB11_HUMAN	I	137	ENSP00000387683:M137I	ENSP00000387683:M137I	M	-	3	0	UGT2B11	70114619	0.000000	0.05858	0.094000	0.20943	0.033000	0.12548	-0.369000	0.07533	1.087000	0.41251	0.184000	0.17185	ATG	UGT2B11	-	pfam_UDP_glucos_trans		0.348	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	C	NM_001073		70080030	-1	no_errors	ENST00000446444	ensembl	human	known	70_37	missense	SNP	0.393	T
UNC13D	201294	genome.wustl.edu	37	17	73838662	73838662	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:73838662C>G	ENST00000207549.4	-	6	800	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.E141Q|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	141	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCCCTGCTCAATGCCCAGC	0.687									Familial Hemophagocytic Lymphohistiocytosis																																								0													44.0	47.0	46.0					17																	73838662		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.421G>C	17.37:g.73838662C>G	ENSP00000207549:p.Glu141Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E141Q	ENST00000207549.4	37	c.421	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556354	0.65425	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.39997	1.05;1.05	4.45	4.45	0.53987	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.394274	0.23945	N	0.043002	T	0.39600	0.1084	N	0.25789	0.76	0.37805	D	0.927848	D	0.54601	0.967	P	0.55260	0.772	T	0.17930	-1.0353	10	0.13470	T	0.59	.	11.6894	0.51505	0.0:0.9135:0.0:0.0865	.	141	Q70J99	UN13D_HUMAN	Q	141	ENSP00000207549:E141Q;ENSP00000388093:E141Q	ENSP00000207549:E141Q	E	-	1	0	UNC13D	71350257	0.891000	0.30450	0.999000	0.59377	0.946000	0.59487	0.965000	0.29319	2.019000	0.59389	0.563000	0.77884	GAG	UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.687	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73838662	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	missense	SNP	1.000	G
USP7	7874	genome.wustl.edu	37	16	8993571	8993571	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:8993571C>T	ENST00000344836.4	-	22	2551	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	USP7_ENST00000535863.1_Missense_Mutation_p.E686K|USP7_ENST00000381886.4_Missense_Mutation_p.E769K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	785	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGGAAATACTCCTTTGCGGTG	0.438																																																	0													159.0	140.0	147.0					16																	8993571		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2353G>A	16.37:g.8993571C>T	ENSP00000343535:p.Glu785Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.E785K	ENST00000344836.4	37	c.2353	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316005	0.60524	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.07688	3.17;3.18	5.68	5.68	0.88126	.	0.093505	0.64402	D	0.000001	T	0.07503	0.0189	N	0.17082	0.46	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.40098	-0.9581	10	0.27082	T	0.32	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	785;769	Q93009;B7Z815	UBP7_HUMAN;.	K	785;793;686;686	ENSP00000343535:E785K;ENSP00000443646:E686K	ENSP00000343535:E785K	E	-	1	0	USP7	8901072	1.000000	0.71417	0.427000	0.26684	0.850000	0.48378	7.524000	0.81866	2.674000	0.91012	0.555000	0.69702	GAG	USP7	-	NULL		0.438	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			8993571	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	T
VAPB	9217	genome.wustl.edu	37	20	57019856	57019856	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr20:57019856C>T	ENST00000475243.1	+	0	1635				VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ACGTACTCGTCATAAGTGAGA	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	9217			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.*565C>T	20.37:g.57019856C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2F2|O95293|Q9P0H0	RNA	SNP	-	NULL	ENST00000475243.1	37	NULL	CCDS33498.1	20																																																																																			VAPB	-	-		0.473	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	C			57019856	+1	no_errors	ENST00000265619	ensembl	human	known	70_37	rna	SNP	0.015	T
VCAM1	7412	genome.wustl.edu	37	1	101188842	101188842	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:101188842G>C	ENST00000294728.2	+	3	708	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	VCAM1_ENST00000370119.4_Missense_Mutation_p.E141Q|VCAM1_ENST00000370115.1_Missense_Mutation_p.E203Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.E203Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	203	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACACATTGATGAAATGGATTC	0.428																																																	0													115.0	112.0	113.0					1																	101188842		2203	4299	6502	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.607G>C	1.37:g.101188842G>C	ENSP00000294728:p.Glu203Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.E203Q	ENST00000294728.2	37	c.607	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958936	0.34565	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.25	4.32	0.51571	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.520793	0.22565	N	0.058408	T	0.01156	0.0038	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14012	0.009;0.008;0.006	B;B;B	0.15052	0.005;0.003;0.012	T	0.45833	-0.9234	10	0.14656	T	0.56	-6.1793	13.073	0.59072	0.0:0.1685:0.8315:0.0	.	141;203;203	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	Q	141;203;203;203	ENSP00000359137:E141Q;ENSP00000304611:E203Q;ENSP00000294728:E203Q;ENSP00000359133:E203Q	ENSP00000294728:E203Q	E	+	1	0	VCAM1	100961430	0.006000	0.16342	0.012000	0.15200	0.394000	0.30568	1.532000	0.36029	1.306000	0.44926	0.467000	0.42956	GAA	VCAM1	-	pfam_Ig_C2-set		0.428	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	G	NM_001078		101188842	+1	no_errors	ENST00000294728	ensembl	human	known	70_37	missense	SNP	0.075	C
VCL	7414	genome.wustl.edu	37	10	75757941	75757941	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr10:75757941G>A	ENST00000211998.4	+	0	70				VCL_ENST00000417648.2_5'UTR|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_5'UTR	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin						adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GTCGCCCGCGGTTCGCCGCCC	0.657																																																	0													18.0	17.0	17.0					10																	75757941		2199	4297	6496	SO:0001623	5_prime_UTR_variant	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.-25G>A	10.37:g.75757941G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	RNA	SNP	-	NULL	ENST00000211998.4	37	NULL	CCDS7341.1	10																																																																																			VCL	-	-		0.657	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		G	NM_003373, NM_014000		75757941	+1	no_errors	ENST00000478896	ensembl	human	known	70_37	rna	SNP	1.000	A
VILL	50853	genome.wustl.edu	37	3	38042986	38042986	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:38042986C>T	ENST00000283713.6	+	12	1488	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	VILL_ENST00000465644.1_Missense_Mutation_p.P126S|VILL_ENST00000383759.2_Missense_Mutation_p.P408S			O15195	VILL_HUMAN	villin-like	408					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCCGTGGACCCCAAGCGTCA	0.587																																																	0													111.0	95.0	100.0					3																	38042986		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1222C>T	3.37:g.38042986C>T	ENSP00000283713:p.Pro408Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.P408S	ENST00000283713.6	37	c.1222	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587429	0.28268	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.56776	0.44;0.44;0.44	4.04	3.16	0.36331	Gelsolin domain (1);	0.170563	0.53938	N	0.000059	T	0.46756	0.1409	L	0.60455	1.87	0.35148	D	0.769499	B;B	0.21071	0.041;0.051	B;B	0.28305	0.053;0.088	T	0.50955	-0.8766	10	0.17369	T	0.5	-16.1299	10.785	0.46401	0.0:0.9047:0.0:0.0953	.	394;408	O15195-2;O15195	.;VILL_HUMAN	S	408;408;394;126	ENSP00000283713:P408S;ENSP00000373266:P408S;ENSP00000422096:P126S	ENSP00000283713:P408S	P	+	1	0	VILL	38017990	0.970000	0.33590	0.545000	0.28153	0.132000	0.20833	2.486000	0.45259	1.062000	0.40625	0.455000	0.32223	CCC	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.587	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	C	NM_015873		38042986	+1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	0.989	T
VKORC1	79001	genome.wustl.edu	37	16	31106931	31106931	+	5'Flank	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:31106931C>G	ENST00000394975.2	-	0	0				RP11-196G11.1_ENST00000529564.1_5'Flank|VKORC1_ENST00000498155.1_Missense_Mutation_p.E17Q|VKORC1_ENST00000319788.7_5'Flank|VKORC1_ENST00000300851.6_5'Flank|VKORC1_ENST00000394971.3_5'Flank|VKORC1_ENST00000354895.4_5'Flank	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1						blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CAGAACCACTCCTTTGGCCAC	0.572																																																	0													139.0	117.0	123.0					16																	31106931		876	1991	2867	SO:0001631	upstream_gene_variant	79001				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408		16.37:g.31106931C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	NULL	p.E17Q	ENST00000394975.2	37	c.49	CCDS10703.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.550|3.550	-0.091783|-0.091783	0.07053|0.07053	.|.	.|.	ENSG00000167397|ENSG00000167397	ENST00000498155|ENST00000420057	.|.	.|.	.|.	2.57|2.57	-1.27|-1.27	0.09347|0.09347	.|.	.|.	.|.	.|.	.|.	T|T	0.21962|0.21962	0.0529|0.0529	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27640|0.27640	-1.0068|-1.0068	5|4	0.87932|.	D|.	0|.	.|.	4.161|4.161	0.10284|0.10284	0.3833:0.4723:0.1444:0.0|0.3833:0.4723:0.1444:0.0	.|.	.|.	.|.	.|.	Q|S	17|8	.|.	ENSP00000417662:E17Q|.	E|R	-|-	1|3	0|2	VKORC1|VKORC1	31014432|31014432	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.279000|0.279000	0.18771|0.18771	-0.300000|-0.300000	0.08895|0.08895	-1.097000|-1.097000	0.02148|0.02148	GAG|AGG	VKORC1	-	NULL		0.572	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VKORC1	HGNC	protein_coding	OTTHUMT00000108582.1	C	NM_024006		31106931	-1	no_errors	ENST00000498155	ensembl	human	putative	70_37	missense	SNP	0.000	G
VTCN1	79679	genome.wustl.edu	37	1	117695881	117695881	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:117695881C>T	ENST00000369458.3	-	4	634	c.556G>A	c.(556-558)Gac>Aac	p.D186N	VTCN1_ENST00000328189.3_Missense_Mutation_p.D70N|VTCN1_ENST00000359008.4_Missense_Mutation_p.D189N|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.D91N	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GCTCCCTGGTCAACTTGGGAT	0.532																																																	0													95.0	91.0	92.0					1																	117695881		2203	4300	6503	SO:0001583	missense	79679			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.556G>A	1.37:g.117695881C>T	ENSP00000358470:p.Asp186Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.D189N	ENST00000369458.3	37	c.565	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285979	0.23478	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.25912	3.27;3.25;1.77;4.16	5.34	4.43	0.53597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170866	0.41605	N	0.000859	T	0.06234	0.0161	N	0.11560	0.145	0.31127	N	0.708198	B;B	0.32573	0.376;0.017	B;B	0.33392	0.163;0.023	T	0.16482	-1.0401	10	0.44086	T	0.13	-22.6273	11.7927	0.52078	0.0:0.9196:0.0:0.0804	.	70;186	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	N	186;189;70;91	ENSP00000358470:D186N;ENSP00000351899:D189N;ENSP00000328168:D70N;ENSP00000444724:D91N	ENSP00000328168:D70N	D	-	1	0	VTCN1	117497404	0.004000	0.15560	0.756000	0.31282	0.059000	0.15707	0.179000	0.16840	1.631000	0.50456	0.650000	0.86243	GAC	VTCN1	-	pfscan_Ig-like		0.532	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	C	NM_024626		117695881	-1	no_errors	ENST00000359008	ensembl	human	known	70_37	missense	SNP	0.786	T
VWC2	375567	genome.wustl.edu	37	7	49815707	49815707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:49815707C>T	ENST00000340652.4	+	2	1232	c.676C>T	c.(676-678)Cag>Tag	p.Q226*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	226	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CAAGACCTATCAGACTTTGGA	0.612																																																	0													16.0	21.0	19.0					7																	49815707		2050	4207	6257	SO:0001587	stop_gained	375567			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.676C>T	7.37:g.49815707C>T	ENSP00000341819:p.Gln226*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXE2	Nonsense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.Q226*	ENST00000340652.4	37	c.676	CCDS5508.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.117119	0.99340	.	.	ENSG00000188730	ENST00000340652	.	.	.	4.84	4.84	0.62591	.	0.158139	0.44483	D	0.000457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.3207	0.90237	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	ENSP00000341819:Q226X	Q	+	1	0	VWC2	49786253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.746000	0.47467	2.383000	0.81215	0.561000	0.74099	CAG	VWC2	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.612	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2	C	NM_198570		49815707	+1	no_errors	ENST00000340652	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WIZ	58525	genome.wustl.edu	37	19	15537963	15537963	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:15537963C>T	ENST00000389282.4	-	6	3695	c.3482G>A	c.(3481-3483)cGa>cAa	p.R1161Q	WIZ_ENST00000599910.2_Missense_Mutation_p.R478Q|WIZ_ENST00000263381.7_Missense_Mutation_p.R304Q|WIZ_ENST00000545156.1_Missense_Mutation_p.R475Q|WIZ_ENST00000599686.3_Missense_Mutation_p.R345Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1161	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GAACATCTTTCGGGCCGTAGG	0.627																																																	0													42.0	46.0	45.0					19																	15537963		1988	4165	6153	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3482G>A	19.37:g.15537963C>T	ENSP00000373933:p.Arg1161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1161Q	ENST00000389282.4	37	c.3482		19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665967	0.88251	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.31769	1.48;1.48;1.48	5.51	5.51	0.81932	.	0.638631	0.15943	N	0.237115	T	0.41166	0.1147	N	0.24115	0.695	0.34356	D	0.690402	D;D;D	0.76494	0.994;0.999;0.998	P;D;P	0.69654	0.637;0.965;0.791	T	0.51624	-0.8682	10	0.59425	D	0.04	-17.5955	13.8864	0.63710	0.0:0.847:0.153:0.0	.	1161;304;345	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	Q	1161;304;345;475	ENSP00000373933:R1161Q;ENSP00000263381:R304Q;ENSP00000445824:R475Q	ENSP00000263381:R304Q	R	-	2	0	WIZ	15398963	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.596000	0.54024	2.590000	0.87494	0.561000	0.74099	CGA	WIZ	-	NULL		0.627	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15537963	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.998	T
YARS	8565	genome.wustl.edu	37	1	33245004	33245004	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:33245004C>G	ENST00000373477.4	-	12	2363	c.1455G>C	c.(1453-1455)aaG>aaC	p.K485N	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	485					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGAAGACTTTCTTCTTGGGCT	0.522																																																	0													136.0	134.0	135.0					1																	33245004		2203	4300	6503	SO:0001583	missense	8565			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1455G>C	1.37:g.33245004C>G	ENSP00000362576:p.Lys485Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.K485N	ENST00000373477.4	37	c.1455	CCDS368.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164036	0.78339	.	.	ENSG00000134684	ENST00000373477	T	0.77358	-1.09	5.84	5.84	0.93424	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.039900	0.85682	D	0.000000	D	0.89798	0.6819	M	0.93283	3.4	0.80722	D	1	D	0.64830	0.994	P	0.61132	0.884	D	0.91132	0.4938	10	0.56958	D	0.05	-21.4404	15.6013	0.76628	0.0:0.9326:0.0:0.0674	.	485	P54577	SYYC_HUMAN	N	485	ENSP00000362576:K485N	ENSP00000362576:K485N	K	-	3	2	YARS	33017591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.246000	0.32803	2.937000	0.99478	0.650000	0.86243	AAG	YARS	-	superfamily_NA-bd_OB-fold-like		0.522	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	C	NM_003680		33245004	-1	no_errors	ENST00000373477	ensembl	human	known	70_37	missense	SNP	1.000	G
YIPF7	285525	genome.wustl.edu	37	4	44652035	44652035	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr4:44652035G>C	ENST00000332990.5	-	2	171	c.155C>G	c.(154-156)tCt>tGt	p.S52C	YIPF7_ENST00000415895.4_Missense_Mutation_p.S28C	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	52						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATAGGCATTAGAGTCATTACC	0.313																																																	0													50.0	46.0	47.0					4																	44652035		1807	4082	5889	SO:0001583	missense	285525			AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.155C>G	4.37:g.44652035G>C	ENSP00000332772:p.Ser52Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY21|Q3SY22	Missense_Mutation	SNP	pfam_Yip1	p.S52C	ENST00000332990.5	37	c.155	CCDS54766.1	4	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529934	0.13127	.	.	ENSG00000177752	ENST00000332990	T	0.42513	0.97	5.45	5.45	0.79879	.	0.403273	0.22429	N	0.060178	T	0.59307	0.2184	M	0.61703	1.905	0.09310	N	1	D;B	0.76494	0.999;0.007	D;B	0.65874	0.939;0.013	T	0.52396	-0.8581	10	0.40728	T	0.16	-8.5266	14.7313	0.69383	0.0:0.0:1.0:0.0	.	52;52	Q8N8F6-4;Q8N8F6	.;YIPF7_HUMAN	C	52	ENSP00000332772:S52C	ENSP00000332772:S52C	S	-	2	0	YIPF7	44346792	0.354000	0.24912	0.012000	0.15200	0.027000	0.11550	5.009000	0.63998	2.853000	0.98044	0.644000	0.83932	TCT	YIPF7	-	NULL		0.313	YIPF7-201	KNOWN	basic|CCDS	protein_coding	YIPF7	HGNC	protein_coding		G	NM_182592		44652035	-1	no_errors	ENST00000332990	ensembl	human	known	70_37	missense	SNP	0.017	C
YTHDC2	64848	genome.wustl.edu	37	5	112902973	112902973	+	Silent	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr5:112902973C>G	ENST00000161863.4	+	22	3240	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1009					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTCAGTTCTCAGTCAGCCTC	0.383																																																	0													108.0	101.0	103.0					5																	112902973		2202	4300	6502	SO:0001819	synonymous_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3027C>G	5.37:g.112902973C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP66	Silent	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1009	ENST00000161863.4	37	c.3027	CCDS4113.1	5																																																																																			YTHDC2	-	pfam_DUF1605		0.383	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	C	NM_022828		112902973	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	silent	SNP	1.000	G
ZACN	353174	genome.wustl.edu	37	17	74076903	74076903	+	Intron	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:74076903C>T	ENST00000334586.5	+	5	627				EXOC7_ENST00000591724.1_5'Flank|ZACN_ENST00000392503.2_Missense_Mutation_p.S102L	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCAGAGGCTCAGGTTGCCAT	0.587																																																	0													42.0	44.0	44.0					17																	74076903		692	1591	2283	SO:0001627	intron_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.544+398C>T	17.37:g.74076903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	NULL	p.S102L	ENST00000334586.5	37	c.305	CCDS11740.2	17	.	.	.	.	.	.	.	.	.	.	C	7.039	0.562087	0.13498	.	.	ENSG00000186919	ENST00000392503	.	.	.	2.09	-0.0269	0.13928	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37686	-0.9695	5	0.87932	D	0	.	2.5898	0.04839	0.2855:0.5415:0.0:0.1729	.	.	.	.	L	102	.	ENSP00000376291:S102L	S	+	2	0	ZACN	71588498	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.203000	0.17315	0.037000	0.15575	0.467000	0.42956	TCA	ZACN	-	NULL		0.587	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	C	NM_180990		74076903	+1	no_errors	ENST00000392503	ensembl	human	known	70_37	missense	SNP	0.000	T
ZBTB38	253461	genome.wustl.edu	37	3	141164487	141164487	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:141164487G>C	ENST00000514251.1	+	4	3536	c.3257G>C	c.(3256-3258)aGa>aCa	p.R1086T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1087T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1086T					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATCCATGAAAGAATCCATACT	0.443																																																	0													86.0	85.0	85.0					3																	141164487		1967	4168	6135	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3257G>C	3.37:g.141164487G>C	ENSP00000426387:p.Arg1086Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R1087T	ENST00000514251.1	37	c.3260	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888194	0.52014	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.25414	1.8;1.8;1.8	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.85630	2.765	0.23665	N	0.997163	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.55566	-0.8121	9	.	.	.	-9.0379	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1087;1086	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	1086;1086;1087	ENSP00000426387:R1086T;ENSP00000406955:R1086T;ENSP00000372635:R1087T	.	R	+	2	0	ZBTB38	142647177	1.000000	0.71417	0.074000	0.20217	0.998000	0.95712	6.454000	0.73493	2.713000	0.92767	0.655000	0.94253	AGA	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141164487	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.434	C
ZEB2	9839	genome.wustl.edu	37	2	145275290	145275290	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:145275290G>A	ENST00000409487.3	-	0	7				ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000558170.2_Intron|ZEB2_ENST00000303660.4_Intron|ZEB2_ENST00000462355.1_5'Flank|ZEB2_ENST00000539609.3_Intron|ZEB2_ENST00000470879.1_5'UTR|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2-AS1_ENST00000609819.1_RNA|ZEB2_ENST00000465070.1_Intron|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000595449.1_RNA|ZEB2-AS1_ENST00000428623.1_RNA|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2_ENST00000493689.1_5'UTR|ZEB2-AS1_ENST00000609376.1_RNA			O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2						cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGTAAGACCGCTTGACTCAG	0.522																																					Melanoma(33;1235 1264 5755 16332)												0																																										SO:0001623	5_prime_UTR_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000409487.3:c.-181C>T	2.37:g.145275290G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	RNA	SNP	-	NULL	ENST00000409487.3	37	NULL	CCDS2186.1	2																																																																																			ZEB2	-	-		0.522	ZEB2-011	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000332793.3	G	NM_014795		145275290	-1	no_errors	ENST00000470879	ensembl	human	known	70_37	rna	SNP	0.998	A
ZFAND2B	130617	genome.wustl.edu	37	2	220072422	220072422	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr2:220072422G>T	ENST00000289528.5	+	3	398	c.203G>T	c.(202-204)aGa>aTa	p.R68I	ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.R68I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R68I|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.R68I	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	68						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTGGCCAGAGGGGAGCCC	0.557																																																	0													89.0	83.0	85.0					2																	220072422		2203	4300	6503	SO:0001583	missense	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.203G>T	2.37:g.220072422G>T	ENSP00000289528:p.Arg68Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NB98	Missense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1	p.R68I	ENST00000289528.5	37	c.203	CCDS2435.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.323773	0.95708	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409412;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000409319;ENST00000444522	T;T;T;T;T;T;T;T;T;T	0.48522	0.88;0.88;0.81;0.84;0.9;0.83;0.81;0.82;0.9;0.83	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.88570	2.965	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66847	0.921;0.947	T	0.78713	-0.2097	10	0.66056	D	0.02	-19.6843	18.4617	0.90741	0.0:0.0:1.0:0.0	.	68;68	Q8WV99;B4DEN4	ZFN2B_HUMAN;.	I	68	ENSP00000386824:R68I;ENSP00000386399:R68I;ENSP00000289528:R68I;ENSP00000409931:R68I;ENSP00000386847:R68I;ENSP00000387179:R68I;ENSP00000386898:R68I;ENSP00000386370:R68I;ENSP00000387312:R68I;ENSP00000411334:R68I	ENSP00000289528:R68I	R	+	2	0	ZFAND2B	219780666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.265000	0.58865	2.691000	0.91804	0.655000	0.94253	AGA	ZFAND2B	-	NULL		0.557	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	ZFAND2B	HGNC	protein_coding	OTTHUMT00000256824.2	G	NM_138802		220072422	+1	no_errors	ENST00000289528	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFHX2	85446	genome.wustl.edu	37	14	24003250	24003250	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr14:24003250G>A	ENST00000419474.3	-	2	1640	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	429					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						AAGGCTGCAGGGGCTGGGGTG	0.637																																																	0																																										SO:0001583	missense	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.1285C>T	14.37:g.24003250G>A	ENSP00000413418:p.Pro429Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPU6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P429S	ENST00000419474.3	37	c.1285	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631144	0.28978	.	.	ENSG00000136367	ENST00000419474;ENST00000382785	T	0.78003	-1.14	5.18	5.18	0.71444	.	.	.	.	.	T	0.63768	0.2539	N	0.24115	0.695	0.25621	N	0.986402	.	.	.	.	.	.	T	0.52983	-0.8502	7	0.17832	T	0.49	.	6.8506	0.24012	0.0883:0.0:0.7359:0.1759	.	.	.	.	S	429	ENSP00000413418:P429S	ENSP00000372235:P429S	P	-	1	0	ZFHX2	23073090	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	3.223000	0.51231	2.402000	0.81655	0.655000	0.94253	CCT	ZFHX2	-	NULL		0.637	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	G	NM_014894		24003250	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	missense	SNP	0.966	A
ZFX	7543	genome.wustl.edu	37	X	24225966	24225966	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:24225966G>C	ENST00000379177.1	+	8	1361	c.934G>C	c.(934-936)Gat>Cat	p.D312H	ZFX_ENST00000379188.3_Missense_Mutation_p.D312H|ZFX_ENST00000539115.1_Missense_Mutation_p.D83H|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000304543.5_Missense_Mutation_p.D312H|ZFX_ENST00000540034.1_Missense_Mutation_p.D351H|ZFX_ENST00000338565.3_Missense_Mutation_p.D262H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	312					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGAAGATGAAGATTTAAGTAA	0.373																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													187.0	168.0	174.0					X																	24225966		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.934G>C	X.37:g.24225966G>C	ENSP00000368475:p.Asp312His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D351H	ENST00000379177.1	37	c.1051	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374573	0.61735	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.076728	0.53938	D	0.000060	T	0.79851	0.4517	M	0.73962	2.25	0.54753	D	0.999984	P;P;D;D	0.76494	0.904;0.81;0.971;0.999	P;P;D;D	0.72338	0.859;0.779;0.924;0.977	T	0.81402	-0.0949	10	0.66056	D	0.02	-5.1207	18.918	0.92513	0.0:0.0:1.0:0.0	.	351;81;312;316	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	H	83;312;81;312;312;351;262;107	ENSP00000438233:D83H;ENSP00000368486:D312H;ENSP00000368475:D312H;ENSP00000304985:D312H;ENSP00000441382:D351H;ENSP00000343384:D262H	ENSP00000304985:D312H	D	+	1	0	ZFX	24135887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.501000	0.84356	0.594000	0.82650	GAT	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.373	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	G	NM_003410		24225966	+1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	C
ZMAT1	84460	genome.wustl.edu	37	X	101139182	101139182	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chrX:101139182C>G	ENST00000372782.3	-	7	1264	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R235T|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R406T	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	406						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTCTAGTCCTCTGGCTTTCTG	0.413																																																	0													225.0	213.0	217.0					X																	101139182		2203	4300	6503	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1217G>C	X.37:g.101139182C>G	ENSP00000361868:p.Arg406Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.R406T	ENST00000372782.3	37	c.1217	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845387	0.32606	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.59502	0.76;0.76;0.26	4.46	0.541	0.17168	.	0.072502	0.51477	N	0.000082	T	0.47544	0.1451	M	0.79475	2.455	0.44073	D	0.996827	P	0.38535	0.635	B	0.28553	0.091	T	0.42085	-0.9472	10	0.87932	D	0	-3.9128	5.5561	0.17117	0.0:0.5144:0.294:0.1916	.	406	Q5H9K5	ZMAT1_HUMAN	T	406;406;235	ENSP00000361868:R406T;ENSP00000437529:R406T;ENSP00000413044:R235T	ENSP00000361868:R406T	R	-	2	0	ZMAT1	101025838	0.992000	0.36948	0.551000	0.28230	0.880000	0.50808	1.081000	0.30791	-0.034000	0.13713	0.513000	0.50165	AGA	ZMAT1	-	NULL		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101139182	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	0.998	G
ZMYM6	9204	genome.wustl.edu	37	1	35454317	35454317	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:35454317A>C	ENST00000357182.4	-	16	2593	c.2366T>G	c.(2365-2367)tTg>tGg	p.L789W	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	789					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ttttgtcttcaaatgatgaga	0.323																																																	0													32.0	27.0	29.0					1																	35454317		1436	3326	4762	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2366T>G	1.37:g.35454317A>C	ENSP00000349708:p.Leu789Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.L789W	ENST00000357182.4	37	c.2366	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716885	0.48622	.	.	ENSG00000163867	ENST00000357182	T	0.10477	2.87	3.74	3.74	0.42951	.	0.339199	0.26780	N	0.022530	T	0.23370	0.0565	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00595	-1.1653	10	0.48119	T	0.1	-5.2698	9.0584	0.36419	1.0:0.0:0.0:0.0	.	789	O95789	ZMYM6_HUMAN	W	789	ENSP00000349708:L789W	ENSP00000349708:L789W	L	-	2	0	ZMYM6	35226904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	1.692000	0.51112	0.533000	0.62120	TTG	ZMYM6	-	NULL		0.323	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	A	NM_007167		35454317	-1	no_errors	ENST00000357182	ensembl	human	known	70_37	missense	SNP	1.000	C
ZMYND10	51364	genome.wustl.edu	37	3	50379941	50379941	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr3:50379941T>C	ENST00000231749.3	-	8	2032	c.760A>G	c.(760-762)Aag>Gag	p.K254E	ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.K249E	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	254					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCTCAGCTTTTGCTGCTCT	0.592										TSP Lung(30;0.18)																																							0													87.0	70.0	76.0					3																	50379941		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.760A>G	3.37:g.50379941T>C	ENSP00000231749:p.Lys254Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.K254E	ENST00000231749.3	37	c.760	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705627	0.89018	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	.	.	.	5.77	5.77	0.91146	.	0.089879	0.85682	D	0.000000	T	0.71187	0.3310	M	0.85630	2.765	0.58432	D	0.999993	P;P	0.41232	0.743;0.626	P;B	0.44359	0.447;0.176	T	0.74512	-0.3641	8	.	.	.	-40.6678	14.6688	0.68929	0.0:0.0:0.0:1.0	.	249;254	O75800-2;O75800	.;ZMY10_HUMAN	E	254;249;211	.	.	K	-	1	0	ZMYND10	50354945	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.015000	0.88690	2.215000	0.71742	0.459000	0.35465	AAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.592	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	T	NM_015896		50379941	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF281	23528	genome.wustl.edu	37	1	200376337	200376337	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr1:200376337G>C	ENST00000294740.3	-	2	2621	c.2497C>G	c.(2497-2499)Caa>Gaa	p.Q833E	ZNF281_ENST00000367353.1_Missense_Mutation_p.Q833E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q797E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	833					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAAACGCTTGTGCAAAGTTC	0.443																																																	0													102.0	104.0	103.0					1																	200376337		2203	4300	6503	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2497C>G	1.37:g.200376337G>C	ENSP00000294740:p.Gln833Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q833E	ENST00000294740.3	37	c.2497	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633129	0.67015	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.13778	2.56;2.56;2.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	L	0.29908	0.895	0.80722	D	1	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	T	0.01899	-1.1251	10	0.87932	D	0	-4.5365	19.3834	0.94546	0.0:0.0:1.0:0.0	.	797;833	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	833;833;797;538	ENSP00000294740:Q833E;ENSP00000356322:Q833E;ENSP00000356321:Q797E	ENSP00000294740:Q833E	Q	-	1	0	ZNF281	198642960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.570000	0.86706	0.655000	0.94253	CAA	ZNF281	-	NULL		0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	G	NM_012482		200376337	-1	no_errors	ENST00000294740	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF302	55900	genome.wustl.edu	37	19	35170801	35170801	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:35170801G>C	ENST00000446502.2	+	3	286	c.78G>C	c.(76-78)atG>atC	p.M26I	ZNF302_ENST00000423823.2_Intron|ZNF302_ENST00000457781.2_Intron|ZNF302_ENST00000505242.1_Intron|ZNF302_ENST00000505365.2_Intron|ZNF302_ENST00000507959.1_Intron|ZNF302_ENST00000509528.1_Intron			Q9NR11	ZN302_HUMAN	zinc finger protein 302	0	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			tgaataaGATGAGTAATGAAG	0.433																																																	0																																										SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.78G>C	19.37:g.35170801G>C	ENSP00000396379:p.Met26Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658J3|Q9BZD8|Q9P0J4	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.M26I	ENST00000446502.2	37	c.78		19	.	.	.	.	.	.	.	.	.	.	G	3.909	-0.020425	0.07634	.	.	ENSG00000089335	ENST00000446502	T	0.04015	3.73	0.579	-0.731	0.11151	.	.	.	.	.	T	0.02649	0.0080	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	7	0.20519	T	0.43	.	.	.	.	.	26	E7EVR1	.	I	26	ENSP00000396379:M26I	ENSP00000396379:M26I	M	+	3	0	ZNF302	39862641	0.003000	0.15002	0.051000	0.19133	0.480000	0.33159	-0.081000	0.11321	-0.278000	0.09180	0.205000	0.17691	ATG	ZNF302	-	NULL		0.433	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	G			35170801	+1	no_errors	ENST00000446502	ensembl	human	novel	70_37	missense	SNP	0.067	C
ZNF420	147923	genome.wustl.edu	37	19	37619729	37619729	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:37619729G>C	ENST00000337995.3	+	5	2051	c.1836G>C	c.(1834-1836)gaG>gaC	p.E612D	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTGGTGAGAAGCCCTATG	0.428																																																	0													69.0	66.0	67.0					19																	37619729		2203	4300	6503	SO:0001583	missense	147923			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1836G>C	19.37:g.37619729G>C	ENSP00000338770:p.Glu612Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDY6|Q96ML5	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.E612D	ENST00000337995.3	37	c.1836	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287184	0.59867	.	.	ENSG00000197050	ENST00000337995	T	0.26810	1.71	4.28	-4.29	0.03721	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	N	0.10874	0.06	0.80722	D	1	D	0.57571	0.98	D	0.70935	0.971	T	0.43988	-0.9357	8	.	.	.	.	6.15	0.20306	0.4552:0.0:0.4244:0.1204	.	612	Q8TAQ5	ZN420_HUMAN	D	612	ENSP00000338770:E612D	.	E	+	3	2	ZNF420	42311569	0.994000	0.37717	0.977000	0.42913	0.991000	0.79684	0.263000	0.18478	-0.246000	0.09611	-0.150000	0.13652	GAG	ZNF420	-	pfscan_Znf_C2H2		0.428	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	G	NM_144689		37619729	+1	no_errors	ENST00000337995	ensembl	human	known	70_37	missense	SNP	0.995	C
ZNF467	168544	genome.wustl.edu	37	7	149462120	149462120	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr7:149462120G>C	ENST00000302017.3	-	5	1884	c.1471C>G	c.(1471-1473)Cag>Gag	p.Q491E	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGCCGCACTGAGCGCAGGCG	0.741																																																	0													10.0	11.0	11.0					7																	149462120		1844	3682	5526	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1471C>G	7.37:g.149462120G>C	ENSP00000304769:p.Gln491Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q491E	ENST00000302017.3	37	c.1471	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369071	0.11352	.	.	ENSG00000181444	ENST00000302017	T	0.49139	0.79	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31450	U	0.007635	T	0.17365	0.0417	N	0.02420	-0.555	0.25407	N	0.988394	B	0.17268	0.021	B	0.21151	0.033	T	0.28554	-1.0040	10	0.02654	T	1	-24.458	8.1851	0.31335	0.0:0.1695:0.6564:0.1741	.	491	Q7Z7K2	ZN467_HUMAN	E	491	ENSP00000304769:Q491E	ENSP00000304769:Q491E	Q	-	1	0	ZNF467	149093053	0.000000	0.05858	0.984000	0.44739	0.932000	0.56968	-0.835000	0.04386	1.989000	0.58080	0.462000	0.41574	CAG	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.741	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	G	NM_207336		149462120	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.736	C
ZNF507	22847	genome.wustl.edu	37	19	32843799	32843799	+	Silent	SNP	G	G	A	rs368961693		TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:32843799G>A	ENST00000311921.4	+	2	255	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ZNF507_ENST00000544431.1_Silent_p.L21L|ZNF507_ENST00000355898.5_Silent_p.L21L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	21					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAGCTATACTGACTGCTGAAA	0.363																																																	0								G	,	0,4406		0,0,2203	92.0	90.0	91.0		63,63	3.4	1.0	19		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF507	NM_001136156.1,NM_014910.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	21/954,21/954	32843799	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.63G>A	19.37:g.32843799G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L21	ENST00000311921.4	37	c.63	CCDS32985.1	19																																																																																			ZNF507	-	NULL		0.363	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	G	NM_014910		32843799	+1	no_errors	ENST00000311921	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF470	388566	genome.wustl.edu	37	19	57088790	57088790	+	Silent	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:57088790G>A	ENST00000330619.8	+	6	1679	c.993G>A	c.(991-993)caG>caA	p.Q331Q	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.Q331Q	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	331					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(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTCAACATCAGAGGGTCCACA	0.443																																																	0													69.0	66.0	67.0					19																	57088790		2203	4300	6503	SO:0001819	synonymous_variant	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.993G>A	19.37:g.57088790G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	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.Q331	ENST00000330619.8	37	c.993	CCDS33122.1	19																																																																																			ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	G	NM_001001668		57088790	+1	no_errors	ENST00000330619	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF76	7629	genome.wustl.edu	37	6	35261672	35261672	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr6:35261672G>A	ENST00000373953.3	+	12	1740	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZNF76_ENST00000440666.2_Missense_Mutation_p.D466N|ZNF76_ENST00000339411.5_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	492					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGTCAGCGCCGATGGCACCCA	0.572																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													107.0	89.0	95.0					6																	35261672		2203	4300	6503	SO:0001583	missense	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1474G>A	6.37:g.35261672G>A	ENSP00000363064:p.Asp492Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D492N	ENST00000373953.3	37	c.1474	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.175161	0.94807	.	.	ENSG00000065029	ENST00000373953;ENST00000440666	T;T	0.11930	2.73;2.77	5.26	5.26	0.73747	.	0.000000	0.46442	D	0.000297	T	0.25791	0.0628	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.00294	-1.1840	10	0.54805	T	0.06	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	492	P36508	ZNF76_HUMAN	N	492;466	ENSP00000363064:D492N;ENSP00000392243:D466N	ENSP00000363064:D492N	D	+	1	0	ZNF76	35369650	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	4.904000	0.63279	2.731000	0.93534	0.650000	0.86243	GAT	ZNF76	-	NULL		0.572	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35261672	+1	no_errors	ENST00000373953	ensembl	human	known	70_37	missense	SNP	0.999	A
ZNF774	342132	genome.wustl.edu	37	15	90903722	90903722	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr15:90903722C>T	ENST00000354377.3	+	4	845	c.659C>T	c.(658-660)tCa>tTa	p.S220L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	220					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)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCGACAGCTCAACACTCATC	0.517																																																	0													65.0	60.0	62.0					15																	90903722		2199	4298	6497	SO:0001583	missense	342132			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.659C>T	15.37:g.90903722C>T	ENSP00000346348:p.Ser220Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K020	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S220L	ENST00000354377.3	37	c.659	CCDS32330.1	15	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122112	0.56613	.	.	ENSG00000196391	ENST00000354377	T	0.01705	4.68	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31290	N	0.007908	T	0.09992	0.0245	M	0.76574	2.34	0.29455	N	0.858165	D	0.71674	0.998	D	0.75484	0.986	T	0.00345	-1.1801	10	0.62326	D	0.03	.	15.5179	0.75840	0.0:1.0:0.0:0.0	.	220	Q6NX45	ZN774_HUMAN	L	220	ENSP00000346348:S220L	ENSP00000346348:S220L	S	+	2	0	ZNF774	88704726	0.000000	0.05858	0.926000	0.36857	0.835000	0.47333	0.282000	0.18829	2.253000	0.74438	0.655000	0.94253	TCA	ZNF774	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF774	HGNC	protein_coding	OTTHUMT00000418048.1	C	NM_001004309		90903722	+1	no_errors	ENST00000354377	ensembl	human	known	70_37	missense	SNP	0.296	T
ZNF780B	163131	genome.wustl.edu	37	19	40554664	40554664	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:40554664G>C	ENST00000434248.1	-	3	114	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	ZNF780B_ENST00000221355.6_5'UTR|ZNF780B_ENST00000598845.1_Missense_Mutation_p.Q17E|AC005614.5_ENST00000595508.1_RNA	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACTCCTCCTGAGAGAAGTCA	0.473																																																	0													132.0	125.0	127.0					19																	40554664		2203	4297	6500	SO:0001583	missense	163131			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.49C>G	19.37:g.40554664G>C	ENSP00000391641:p.Gln17Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH00	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.Q17E	ENST00000434248.1	37	c.49	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181157	0.21787	.	.	ENSG00000128000	ENST00000434248	T	0.02032	4.49	2.32	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.03053	0.0090	M	0.74389	2.26	0.54753	D	0.999988	B	0.30634	0.288	B	0.26614	0.071	T	0.41822	-0.9487	9	0.36615	T	0.2	.	5.4832	0.16735	0.0:0.0:0.6721:0.3279	.	17	Q9Y6R6	Z780B_HUMAN	E	17	ENSP00000391641:Q17E	ENSP00000391641:Q17E	Q	-	1	0	ZNF780B	45246504	0.006000	0.16342	0.789000	0.31954	0.894000	0.52154	-0.009000	0.12765	0.991000	0.38814	0.306000	0.20318	CAG	ZNF780B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	G	NM_001005851		40554664	-1	no_errors	ENST00000434248	ensembl	human	known	70_37	missense	SNP	0.834	C
ZNRF1	84937	genome.wustl.edu	37	16	75033937	75033937	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr16:75033937C>T	ENST00000335325.4	+	1	1010	c.368C>T	c.(367-369)tCg>tTg	p.S123L	ZNRF1_ENST00000566250.1_Missense_Mutation_p.S123L|WDR59_ENST00000562331.1_5'Flank|ZNRF1_ENST00000567962.1_Missense_Mutation_p.S123L|ZNRF1_ENST00000320619.6_Missense_Mutation_p.S123L	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	123					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TCCCGAGCCTCGCTGGCGGAT	0.667																																																	0													31.0	30.0	31.0					16																	75033937		2197	4298	6495	SO:0001583	missense	84937			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.368C>T	16.37:g.75033937C>T	ENSP00000335091:p.Ser123Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUJ9|Q9H083	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S123L	ENST00000335325.4	37	c.368	CCDS10912.1	16	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040349	0.55003	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	.	.	.	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	T	0.61123	0.2322	N	0.25647	0.755	0.58432	D	0.999999	D;B;D	0.61697	0.99;0.189;0.983	D;B;P	0.66847	0.947;0.039;0.885	T	0.51942	-0.8641	9	0.11182	T	0.66	-6.1079	17.2525	0.87046	0.0:1.0:0.0:0.0	.	123;123;123	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	L	123	.	ENSP00000323362:S123L	S	+	2	0	ZNRF1	73591438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.490000	0.73645	2.701000	0.92244	0.650000	0.86243	TCG	ZNRF1	-	NULL		0.667	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF1	HGNC	protein_coding	OTTHUMT00000269020.2	C			75033937	+1	no_errors	ENST00000320619	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNRF4	148066	genome.wustl.edu	37	19	5455848	5455848	+	Silent	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr19:5455848C>T	ENST00000222033.4	+	1	423	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672																																																	0													50.0	58.0	56.0					19																	5455848		2108	4207	6315	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.346C>T	19.37:g.5455848C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L116	ENST00000222033.4	37	c.346	CCDS42475.1	19																																																																																			ZNRF4	-	NULL		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	C	NM_181710		5455848	+1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.036	T
ZZEF1	23140	genome.wustl.edu	37	17	3920807	3920807	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PG-01A-11D-A18J-09	TCGA-EK-A2PG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0a71de6-e7f8-4670-a438-52b1f1fcf97e	b4ec4b14-3c54-4fc1-a202-7b6b2efbea5c	g.chr17:3920807C>T	ENST00000381638.2	-	48	7983	c.7859G>A	c.(7858-7860)cGc>cAc	p.R2620H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2620							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAGCACGTGGCGGGCGTACAG	0.617																																																	0													60.0	51.0	54.0					17																	3920807		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7859G>A	17.37:g.3920807C>T	ENSP00000371051:p.Arg2620His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.R2620H	ENST00000381638.2	37	c.7859	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.355284	0.95854	.	.	ENSG00000074755	ENST00000381638	T	0.50548	0.74	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64127	-0.6480	10	0.87932	D	0	-14.8626	19.4618	0.94920	0.0:1.0:0.0:0.0	.	2620	O43149	ZZEF1_HUMAN	H	2620	ENSP00000371051:R2620H	ENSP00000371051:R2620H	R	-	2	0	ZZEF1	3867556	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.438000	0.80431	2.598000	0.87819	0.650000	0.86243	CGC	ZZEF1	-	NULL		0.617	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	C	NM_015113		3920807	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	1.000	T
