#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
ABCA13	154664	genome.wustl.edu	37	7	48412032	48412032	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:48412032C>T	ENST00000435803.1	+	33	11095	c.11071C>T	c.(11071-11073)Ctg>Ttg	p.L3691L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3691					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATCAGCTTTCTGCCCTACAT	0.378																																																	0													148.0	140.0	143.0					7																	48412032		1927	4133	6060	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11071C>T	7.37:g.48412032C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L3691	ENST00000435803.1	37	c.11071	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48412032	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.931	T
AKAP14	158798	genome.wustl.edu	37	X	119037199	119037199	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:119037199C>G	ENST00000371431.3	+	3	287	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	AKAP14_ENST00000334356.2_Missense_Mutation_p.Q5E|AKAP14_ENST00000371425.4_Missense_Mutation_p.Q5E|AKAP14_ENST00000371423.2_Missense_Mutation_p.Q5E|AKAP14_ENST00000371422.1_Missense_Mutation_p.Q5E|AKAP14_ENST00000394594.2_Missense_Mutation_p.Q5E	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	5					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GAGTGAGACTCAAAATTCAAC	0.408																																																	0													84.0	62.0	70.0					X																	119037199		2203	4300	6503	SO:0001583	missense	158798			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.13C>G	X.37:g.119037199C>G	ENSP00000360485:p.Gln5Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	NULL	p.Q5E	ENST00000371431.3	37	c.13	CCDS14591.1	X	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449446	0.12223	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000394594;ENST00000371422;ENST00000334356	.	.	.	3.59	1.22	0.21188	.	1.073470	0.07284	N	0.871336	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.26292	-1.0107	9	0.26408	T	0.33	-2.3209	3.2963	0.06968	0.6047:0.2579:0.1374:0.0	.	5;5;5	A6NNZ0;Q86UN6;Q86UN6-3	.;AKA28_HUMAN;.	E	5	.	ENSP00000334680:Q5E	Q	+	1	0	AKAP14	118921227	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	0.143000	0.18926	-0.315000	0.08773	CAA	AKAP14	-	NULL		0.408	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP14	HGNC	protein_coding	OTTHUMT00000058078.1	C	NM_178813		119037199	+1	no_errors	ENST00000371431	ensembl	human	known	70_37	missense	SNP	0.000	G
ALDH3A2	224	genome.wustl.edu	37	17	19566669	19566669	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:19566669G>C	ENST00000176643.6	+	7	1410	c.964G>C	c.(964-966)Gat>Cat	p.D322H	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.D322H|ALDH3A2_ENST00000571163.1_5'Flank|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.D322H|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.D322H|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.D322H|SNORA31_ENST00000516540.1_RNA			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	322					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TACCGATGTTGATCCTAAAAC	0.333																																																	0													115.0	114.0	115.0					17																	19566669		2203	4300	6503	SO:0001583	missense	224			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.964G>C	17.37:g.19566669G>C	ENSP00000176643:p.Asp322His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.D322H	ENST00000176643.6	37	c.964	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749302	0.15710	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.85171	-1.95;-1.95;-1.95	5.12	1.24	0.21308	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.390992	0.28958	N	0.013591	D	0.85031	0.5604	L	0.53617	1.68	0.09310	N	1	P;P	0.40250	0.691;0.709	P;B	0.55222	0.771;0.367	T	0.74074	-0.3782	10	0.45353	T	0.12	-13.1727	3.419	0.07386	0.4594:0.0:0.3474:0.1932	.	322;322	P51648;P51648-2	AL3A2_HUMAN;.	H	322	ENSP00000176643:D322H;ENSP00000378942:D322H;ENSP00000345774:D322H	ENSP00000176643:D322H	D	+	1	0	ALDH3A2	19507261	0.000000	0.05858	0.124000	0.21820	0.988000	0.76386	-0.031000	0.12287	0.436000	0.26393	0.557000	0.71058	GAT	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.333	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	G			19566669	+1	no_errors	ENST00000339618	ensembl	human	known	70_37	missense	SNP	0.002	C
ANKRD55	79722	genome.wustl.edu	37	5	55407482	55407482	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:55407482G>A	ENST00000341048.4	-	10	1244	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.P77S|ANKRD55_ENST00000504958.2_Missense_Mutation_p.P322S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	365										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)				TCCCTGCTGGGATCCTTCTGA	0.512																																																	0													243.0	236.0	238.0					5																	55407482		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.1093C>T	5.37:g.55407482G>A	ENSP00000342295:p.Pro365Ser	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.P365S	ENST00000341048.4	37	c.1093	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313677	0.23908	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.36340	1.48;1.26;1.67	5.46	5.46	0.80206	.	1.094240	0.06809	N	0.789995	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.09377	0.001;0.004	T	0.08659	-1.0711	10	0.09084	T	0.74	.	12.8209	0.57692	0.0:0.0:0.7302:0.2698	.	365;364	B3KVT8;Q3KP44	.;ANR55_HUMAN	S	365;365;322;77	ENSP00000342295:P365S;ENSP00000424230:P322S;ENSP00000429421:P77S	ENSP00000342295:P365S	P	-	1	0	ANKRD55	55443239	0.774000	0.28592	0.295000	0.24960	0.899000	0.52679	2.689000	0.46993	2.742000	0.94016	0.558000	0.71614	CCC	ANKRD55	-	NULL		0.512	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	G	NM_024669		55407482	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	0.053	A
ATP2B3	492	genome.wustl.edu	37	X	152808574	152808574	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:152808574C>T	ENST00000349466.2	+	6	1190	c.864C>T	c.(862-864)atC>atT	p.I288I	ATP2B3_ENST00000370181.2_Silent_p.I288I|ATP2B3_ENST00000393842.1_Silent_p.I288I|ATP2B3_ENST00000359149.3_Silent_p.I288I|ATP2B3_ENST00000263519.4_Silent_p.I288I|ATP2B3_ENST00000370186.1_Silent_p.I288I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	288					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCATCATCTTCACGCTGC	0.567																																																	0													110.0	98.0	102.0					X																	152808574		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.864C>T	X.37:g.152808574C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I288	ENST00000349466.2	37	c.864	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom		0.567	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152808574	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	1.000	T
ATP8B2	57198	genome.wustl.edu	37	1	154306643	154306643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:154306643G>A	ENST00000368489.3	+	10	749	c.749G>A	c.(748-750)tGg>tAg	p.W250*	ATP8B2_ENST00000341822.2_Nonsense_Mutation_p.W236*|ATP8B2_ENST00000368487.3_Nonsense_Mutation_p.W217*|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	236					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)			ACCCTCTACTGGAAGGAAAAT	0.512																																																	0													217.0	226.0	223.0					1																	154306643		2203	4300	6503	SO:0001587	stop_gained	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.749G>A	1.37:g.154306643G>A	ENSP00000357475:p.Trp250*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	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.W250*	ENST00000368489.3	37	c.749	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.210985	0.97380	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.3	5.3	0.74995	.	0.069961	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1511	0.48460	0.0841:0.0:0.9159:0.0	.	.	.	.	X	217;250;236	.	ENSP00000340448:W236X	W	+	2	0	ATP8B2	152573267	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.842000	0.86851	2.761000	0.94854	0.591000	0.81541	TGG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154306643	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BCL6	604	genome.wustl.edu	37	3	187443293	187443293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:187443293delA	ENST00000406870.2	-	8	2199	c.1833delT	c.(1831-1833)tttfs	p.F611fs	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Frame_Shift_Del_p.F555fs|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.F611fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	611					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		tcacctgTACAAATCTGGCTC	0.637			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													78.0	79.0	78.0					3																	187443293		2203	4300	6503	SO:0001589	frameshift_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1833delT	3.37:g.187443293delA	ENSP00000384371:p.Phe611fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	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.F611fs	ENST00000406870.2	37	c.1833	CCDS3289.1	3																																																																																			BCL6	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	A	NM_138931		187443293	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
BRSK2	9024	genome.wustl.edu	37	11	1464590	1464590	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:1464590C>A	ENST00000528841.1	+	7	974	c.590C>A	c.(589-591)gCg>gAg	p.A197E	BRSK2_ENST00000531197.1_Missense_Mutation_p.A197E|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000526678.1_Missense_Mutation_p.A197E|BRSK2_ENST00000308219.9_Missense_Mutation_p.A197E|BRSK2_ENST00000308230.5_Missense_Mutation_p.A197E|BRSK2_ENST00000382179.1_Missense_Mutation_p.A243E|BRSK2_ENST00000528710.1_Missense_Mutation_p.A137E			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCCGGAAGGCGGACGTGTGG	0.711																																																	0													28.0	36.0	34.0					11																	1464590		2049	4179	6228	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.590C>A	11.37:g.1464590C>A	ENSP00000432000:p.Ala197Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.A243E	ENST00000528841.1	37	c.728	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	c	22.0	4.231415	0.79688	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	3.55	3.55	0.40652	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	U	0.000000	T	0.60805	0.2297	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.989;1.0;1.0	D;D;D;D;D	0.91635	0.951;0.949;0.951;0.999;0.999	T	0.74856	-0.3522	10	0.87932	D	0	.	15.3641	0.74507	0.0:1.0:0.0:0.0	.	197;243;197;197;197	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	E	197;197;197;197;197;137;243	ENSP00000310697:A197E;ENSP00000431152:A197E;ENSP00000310805:A197E;ENSP00000432000:A197E;ENSP00000433370:A197E;ENSP00000433235:A137E;ENSP00000371614:A243E	ENSP00000310697:A197E	A	+	2	0	BRSK2	1421166	1.000000	0.71417	0.994000	0.49952	0.508000	0.34012	5.135000	0.64777	1.858000	0.53909	0.299000	0.19835	GCG	BRSK2	-	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		0.711	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1464590	+1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	A
BRWD1	54014	genome.wustl.edu	37	21	40570860	40570860	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr21:40570860C>T	ENST00000333229.2	-	40	5809	c.5482G>A	c.(5482-5484)Gaa>Aaa	p.E1828K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E1828K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1828K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1828					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)				TCTTGCTCTTCAGATTCAGAG	0.388																																					Melanoma(170;988 1986 4794 16843 39731)												0													128.0	130.0	129.0					21																	40570860		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.5482G>A	21.37:g.40570860C>T	ENSP00000330753:p.Glu1828Lys	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.E1828K	ENST00000333229.2	37	c.5482	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706319	0.48412	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.44482	0.92;0.92;0.92	5.37	5.37	0.77165	.	0.630085	0.15377	N	0.265502	T	0.34019	0.0883	N	0.25647	0.755	0.80722	D	1	B;B	0.29531	0.001;0.247	B;B	0.28553	0.002;0.091	T	0.09729	-1.0661	10	0.32370	T	0.25	-3.8573	17.316	0.87224	0.0:1.0:0.0:0.0	.	1828;1828	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1828	ENSP00000330753:E1828K;ENSP00000344333:E1828K;ENSP00000370178:E1828K	ENSP00000330753:E1828K	E	-	1	0	BRWD1	39492730	1.000000	0.71417	0.961000	0.40146	0.721000	0.41392	3.345000	0.52182	2.518000	0.84900	0.655000	0.94253	GAA	BRWD1	-	NULL		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40570860	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.999	T
BRWD3	254065	genome.wustl.edu	37	X	79999566	79999566	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:79999566G>C	ENST00000373275.4	-	8	994	c.778C>G	c.(778-780)Ctt>Gtt	p.L260V		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	260					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						TGGCCCTGAAGGACTGCAACG	0.393																																																	0													119.0	102.0	108.0					X																	79999566		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.778C>G	X.37:g.79999566G>C	ENSP00000362372:p.Leu260Val	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.L260V	ENST00000373275.4	37	c.778	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397983	0.83120	.	.	ENSG00000165288	ENST00000373275	T	0.67865	-0.29	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.282882	0.29198	N	0.012843	T	0.79805	0.4509	M	0.71296	2.17	0.58432	D	0.999995	D	0.64830	0.994	D	0.68039	0.955	T	0.80801	-0.1220	9	.	.	.	-12.6795	16.6563	0.85229	0.0:0.0:1.0:0.0	.	260	Q6RI45	BRWD3_HUMAN	V	260	ENSP00000362372:L260V	.	L	-	1	0	BRWD3	79886222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.533000	0.73829	2.193000	0.70182	0.415000	0.27848	CTT	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79999566	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	C
C11orf80	79703	genome.wustl.edu	37	11	66512290	66512291	+	In_Frame_Ins	INS	-	-	GGC	rs567536854|rs71045961|rs377555566		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:66512290_66512291insGGC	ENST00000360962.4	+	1	84_85	c.77_78insGGC	c.(76-81)ggggcg>ggGGCggcg	p.34_35insA	C11orf80_ENST00000540737.1_5'UTR|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_5'UTR|C11orf80_ENST00000527634.1_5'UTR|C11orf80_ENST00000532565.2_5'Flank	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	34										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTGAGGAGGGggcggcggcgg	0.787																																																	0										20,74		9,2,36						-5.0	0.0		dbSNP_130	1	203,337		98,7,165	no	coding	C11orf80	NM_024650.3		107,9,201	A1A1,A1R,RR		37.5926,21.2766,35.1735				223,411				SO:0001652	inframe_insertion	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.99_101dupGGC	11.37:g.66512297_66512299dupGGC	ENSP00000354227:p.Ala34_Ala34dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H677	In_Frame_Ins	INS	NULL	p.30in_frame_insA	ENST00000360962.4	37	c.77_78	CCDS53664.1	11																																																																																			C11orf80	-	NULL		0.787	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		-	NM_024650		66512291	+1	no_errors	ENST00000360962	ensembl	human	known	70_37	in_frame_ins	INS	0.001:0.003	GGC
BUD13	84811	genome.wustl.edu	37	11	116633493	116633493	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:116633493G>A	ENST00000260210.4	-	4	835	c.812C>T	c.(811-813)tCc>tTc	p.S271F	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	271					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CAAATCAGGGGAGTCATGACG	0.512																																																	0													133.0	143.0	139.0					11																	116633493		2201	4296	6497	SO:0001583	missense	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.812C>T	11.37:g.116633493G>A	ENSP00000260210:p.Ser271Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S271F	ENST00000260210.4	37	c.812	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164145	0.38217	.	.	ENSG00000137656	ENST00000260210	T	0.20463	2.07	5.08	3.2	0.36748	.	0.064900	0.64402	D	0.000007	T	0.45115	0.1326	M	0.83953	2.67	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.70935	0.971;0.923	T	0.43523	-0.9386	10	0.87932	D	0	-1.7037	9.5006	0.39015	0.0787:0.1437:0.7775:0.0	.	271;271	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	F	271	ENSP00000260210:S271F	ENSP00000260210:S271F	S	-	2	0	BUD13	116138703	0.991000	0.36638	0.306000	0.25113	0.270000	0.26580	2.847000	0.48270	0.715000	0.32103	-0.176000	0.13171	TCC	BUD13	-	NULL		0.512	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	G	NM_032725		116633493	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	0.973	A
C12orf50	160419	genome.wustl.edu	37	12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:88381726G>A	ENST00000298699.2	-	9	898	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	240										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCTTTGGATGAGGACTGTCC	0.333																																																	0													150.0	132.0	138.0					12																	88381726		2203	4300	6503	SO:0001583	missense	160419			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.718C>T	12.37:g.88381726G>A	ENSP00000298699:p.His240Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P674	Missense_Mutation	SNP	NULL	p.H240Y	ENST00000298699.2	37	c.718	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518429	0.64634	.	.	ENSG00000165805	ENST00000298699	T	0.32515	1.45	5.76	5.76	0.90799	.	0.090442	0.49305	D	0.000156	T	0.40909	0.1136	M	0.68317	2.08	0.80722	D	1	P	0.40731	0.728	B	0.44044	0.439	T	0.32134	-0.9918	10	0.72032	D	0.01	.	15.4619	0.75363	0.0:0.0:1.0:0.0	.	240	Q8NA57	CL050_HUMAN	Y	240	ENSP00000298699:H240Y	ENSP00000298699:H240Y	H	-	1	0	C12orf50	86905857	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.489000	0.60309	2.722000	0.93159	0.650000	0.86243	CAT	C12orf50	-	NULL		0.333	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	G	NM_152589		88381726	-1	no_errors	ENST00000298699	ensembl	human	known	70_37	missense	SNP	1.000	A
C14orf28	122525	genome.wustl.edu	37	14	45372445	45372445	+	Missense_Mutation	SNP	G	G	C	rs541143720		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:45372445G>C	ENST00000325192.3	+	3	835	c.560G>C	c.(559-561)aGa>aCa	p.R187T	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Intron	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	187										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AACTTGATAAGACTGGCTGTG	0.308																																																	0													143.0	154.0	150.0					14																	45372445		2203	4299	6502	SO:0001583	missense	122525			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.560G>C	14.37:g.45372445G>C	ENSP00000326846:p.Arg187Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R187T	ENST00000325192.3	37	c.560	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471488	0.26423	.	.	ENSG00000179476	ENST00000325192	T	0.30448	1.53	5.68	5.68	0.88126	.	0.073354	0.56097	D	0.000028	T	0.17619	0.0423	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.22152	0.038	T	0.05321	-1.0892	10	0.66056	D	0.02	.	10.6766	0.45789	0.0862:0.0:0.9138:0.0	.	187	Q4W4Y0	CN028_HUMAN	T	187	ENSP00000326846:R187T	ENSP00000326846:R187T	R	+	2	0	C14orf28	44442195	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.361000	0.66092	2.685000	0.91497	0.650000	0.86243	AGA	C14orf28	-	NULL		0.308	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	G	NM_001017923		45372445	+1	no_errors	ENST00000325192	ensembl	human	known	70_37	missense	SNP	1.000	C
B3GALT5	10317	genome.wustl.edu	37	21	40981555	40981555	+	Intron	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr21:40981555C>G	ENST00000380620.4	+	2	201				C21orf88_ENST00000380612.4_Missense_Mutation_p.R36T|C21orf88_ENST00000329618.6_Missense_Mutation_p.R36T|C21orf88_ENST00000380604.3_Missense_Mutation_p.R36T			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGGCGGAGGTCTCTGCTGGGG	0.572																																																	0													125.0	111.0	115.0					21																	40981555		692	1591	2283	SO:0001627	intron_variant	114041			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.-392+4403C>G	21.37:g.40981555C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	NULL	p.R36T	ENST00000380620.4	37	c.107	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530415	0.13127	.	.	ENSG00000184809	ENST00000380612;ENST00000380604;ENST00000329618	.	.	.	2.57	0.501	0.16925	.	.	.	.	.	T	0.37461	0.1004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37502	-0.9703	5	0.87932	D	0	.	4.2191	0.10549	0.0:0.5908:0.0:0.4092	.	.	.	.	T	36	.	ENSP00000331922:R36T	R	-	2	0	C21orf88	39903425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.999000	0.03697	0.110000	0.17919	0.655000	0.94253	AGA	C21orf88	-	NULL		0.572	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf88	HGNC	protein_coding	OTTHUMT00000195008.2	C	NM_033170		40981555	-1	no_errors	ENST00000380612	ensembl	human	putative	70_37	missense	SNP	0.000	G
CASP2	835	genome.wustl.edu	37	7	142989416	142989416	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:142989416G>C	ENST00000310447.5	+	3	490	c.249G>C	c.(247-249)caG>caC	p.Q83H	RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.Q83H	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	83	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTTTCAGCCAGAATGTGGAAC	0.453																																																	0													120.0	121.0	120.0					7																	142989416		2203	4300	6503	SO:0001583	missense	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.249G>C	7.37:g.142989416G>C	ENSP00000312664:p.Gln83His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q83H	ENST00000310447.5	37	c.249	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	g	17.14	3.314461	0.60524	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.51817	0.69;0.69	5.68	1.89	0.25635	DEATH-like (2);Caspase Recruitment (3);	0.049699	0.85682	D	0.000000	T	0.65450	0.2692	M	0.82517	2.595	0.44247	D	0.997094	D;D	0.76494	0.999;0.999	D;D	0.75020	0.983;0.985	T	0.63849	-0.6544	10	0.72032	D	0.01	.	7.9971	0.30275	0.4749:0.0:0.5251:0.0	.	83;83	E9PDN0;P42575	.;CASP2_HUMAN	H	83;83;52	ENSP00000312664:Q83H;ENSP00000376656:Q83H	ENSP00000312664:Q83H	Q	+	3	2	CASP2	142699538	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.675000	0.37555	0.080000	0.16959	0.650000	0.86243	CAG	CASP2	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.453	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	G	NM_032982		142989416	+1	no_errors	ENST00000310447	ensembl	human	known	70_37	missense	SNP	0.999	C
CCDC122	160857	genome.wustl.edu	37	13	44411505	44411505	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr13:44411505G>T	ENST00000444614.3	-	7	991	c.733C>A	c.(733-735)Cag>Aag	p.Q245K		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	245										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CTATTTGACTGAAGCTTGTTC	0.393																																																	0													148.0	132.0	137.0					13																	44411505		1897	4118	6015	SO:0001583	missense	160857			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.733C>A	13.37:g.44411505G>T	ENSP00000407763:p.Gln245Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.Q245K	ENST00000444614.3	37	c.733	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313697	0.40996	.	.	ENSG00000151773	ENST00000444614	T	0.33216	1.42	5.76	4.87	0.63330	.	.	.	.	.	T	0.26231	0.0640	L	0.40543	1.245	0.80722	D	1	B	0.16802	0.019	B	0.18263	0.021	T	0.02852	-1.1102	9	0.34782	T	0.22	.	12.6943	0.56994	0.0:0.0:0.8355:0.1645	.	245	Q5T0U0	CC122_HUMAN	K	245	ENSP00000407763:Q245K	ENSP00000407763:Q245K	Q	-	1	0	CCDC122	43309505	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	4.778000	0.62368	2.724000	0.93272	0.585000	0.79938	CAG	CCDC122	-	NULL		0.393	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	G	NM_144974		44411505	-1	no_errors	ENST00000444614	ensembl	human	putative	70_37	missense	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55561531	55561531	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:55561531C>G	ENST00000436346.1	-	15	3267	c.2426G>C	c.(2425-2427)aGa>aCa	p.R809T	CCDC88A_ENST00000263630.8_Missense_Mutation_p.R809T|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R809T|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R809T|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	809					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGTTCTAGTCTTTTGCTAGA	0.323																																																	0													98.0	96.0	97.0					2																	55561531		2202	4296	6498	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2426G>C	2.37:g.55561531C>G	ENSP00000410608:p.Arg809Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.R809T	ENST00000436346.1	37	c.2426		2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247219	0.59103	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17854	2.25;2.51;2.47;2.26	5.1	5.1	0.69264	.	0.000000	0.47093	U	0.000248	T	0.40570	0.1122	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.67145	0.992;0.996;0.993;0.993;0.996	P;D;D;P;D	0.77557	0.889;0.99;0.917;0.903;0.922	T	0.13495	-1.0507	10	0.56958	D	0.05	-18.0974	18.9371	0.92590	0.0:1.0:0.0:0.0	.	809;809;809;809;809	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	T	809	ENSP00000338728:R809T;ENSP00000263630:R809T;ENSP00000410608:R809T;ENSP00000404431:R809T	ENSP00000263630:R809T	R	-	2	0	CCDC88A	55415035	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.010000	0.70753	2.550000	0.86006	0.449000	0.29647	AGA	CCDC88A	-	superfamily_Prefoldin		0.323	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55561531	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC88A	55704	genome.wustl.edu	37	2	55562045	55562045	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:55562045C>T	ENST00000436346.1	-	15	2753	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E638K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E638K|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E638K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	638					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCTTTTTCAAGATGATGC	0.254																																																	0													19.0	18.0	18.0					2																	55562045		2187	4250	6437	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1912G>A	2.37:g.55562045C>T	ENSP00000410608:p.Glu638Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E638K	ENST00000436346.1	37	c.1912		2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828751	0.50845	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.18	4.29	0.51040	.	0.131265	0.33438	U	0.004918	T	0.35508	0.0934	L	0.58669	1.825	0.80722	D	1	B;B;B	0.31752	0.087;0.286;0.338	B;B;B	0.36418	0.056;0.224;0.171	T	0.16453	-1.0402	10	0.45353	T	0.12	-5.8837	15.7338	0.77827	0.0:0.863:0.137:0.0	.	638;638;638	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	638	ENSP00000338728:E638K;ENSP00000263630:E638K;ENSP00000410608:E638K;ENSP00000404431:E638K	ENSP00000263630:E638K	E	-	1	0	CCDC88A	55415549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.776000	0.68924	1.153000	0.42468	0.561000	0.74099	GAA	CCDC88A	-	NULL		0.254	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55562045	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	T
CCNL2	81669	genome.wustl.edu	37	1	1322818	1322818	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:1322818G>A	ENST00000400809.3	-	11	1361	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	CCNL2_ENST00000408952.5_Silent_p.C230C|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	452					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGGGGTACTTGCAGTCCTTGG	0.622																																																	0													55.0	65.0	61.0					1																	1322818		2203	4296	6499	SO:0001819	synonymous_variant	81669			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1356C>T	1.37:g.1322818G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.C452	ENST00000400809.3	37	c.1356	CCDS30557.1	1																																																																																			CCNL2	-	pirsf_Cyclin_L		0.622	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	G	NM_030937		1322818	-1	no_errors	ENST00000400809	ensembl	human	known	70_37	silent	SNP	1.000	A
CDC14A	8556	genome.wustl.edu	37	1	100908539	100908539	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:100908539A>G	ENST00000336454.3	+	7	861	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	CDC14A_ENST00000370124.3_Missense_Mutation_p.Y169C|CDC14A_ENST00000544534.1_Missense_Mutation_p.Y169C|CDC14A_ENST00000361544.6_Missense_Mutation_p.Y169C|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.Y111C|CDC14A_ENST00000370125.2_Missense_Mutation_p.Y169C	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	169	Linker.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTGGATGAATATGAACATTAT	0.289																																																	0													108.0	112.0	111.0					1																	100908539		2203	4297	6500	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.506A>G	1.37:g.100908539A>G	ENSP00000336739:p.Tyr169Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y169C	ENST00000336454.3	37	c.506	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521280	0.64747	.	.	ENSG00000079335	ENST00000542213;ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T;T	0.69435	1.44;1.44;-0.4;1.44;1.44;1.44;1.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.83275	0.989;0.996;0.985;0.993;0.954	D	0.86838	0.2015	10	0.87932	D	0	-14.73	12.9608	0.58458	1.0:0.0:0.0:0.0	.	111;169;169;169;169	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	C	111;170;169;169;169;169;169	ENSP00000442640:Y111C;ENSP00000388501:Y170C;ENSP00000359143:Y169C;ENSP00000354916:Y169C;ENSP00000359142:Y169C;ENSP00000336739:Y169C;ENSP00000442543:Y169C	ENSP00000336739:Y169C	Y	+	2	0	CDC14A	100681127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.113000	0.64589	0.477000	0.44152	TAT	CDC14A	-	NULL		0.289	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	A	NM_033312		100908539	+1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	G
CGB1	114335	genome.wustl.edu	37	19	49538946	49538946	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49538946T>C	ENST00000301407.7	-	3	493	c.389A>G	c.(388-390)gAc>gGc	p.D130G	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.D130G	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	162						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAAGCGGGGGTCATCACAGGT	0.652																																																	0													19.0	26.0	24.0					19																	49538946		2181	4289	6470	SO:0001583	missense	114335			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.389A>G	19.37:g.49538946T>C	ENSP00000301407:p.Asp130Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVC8|A8MUK6	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.D130G	ENST00000301407.7	37	c.389	CCDS12751.2	19	.	.	.	.	.	.	.	.	.	.	T	3.400	-0.122468	0.06795	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	T;T	0.39592	1.07;1.07	1.69	-3.38	0.04883	.	1.451340	0.04141	N	0.319616	T	0.27098	0.0664	.	.	.	0.09310	N	1	P	0.34462	0.454	B	0.36534	0.227	T	0.07139	-1.0788	9	0.38643	T	0.18	-0.4209	0.0789	0.00029	0.3018:0.2267:0.2341:0.2374	.	130	A6NKQ9-2	.	G	130	ENSP00000301407:D130G;ENSP00000375742:D130G	ENSP00000301407:D130G	D	-	2	0	CGB1	54230758	0.042000	0.20092	0.005000	0.12908	0.104000	0.19210	0.252000	0.18278	-1.181000	0.02730	0.163000	0.16589	GAC	CGB1	-	NULL		0.652	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	CGB1	HGNC	protein_coding	OTTHUMT00000316746.4	T	NM_033377		49538946	-1	no_errors	ENST00000301407	ensembl	human	known	70_37	missense	SNP	0.493	C
CHD2	1106	genome.wustl.edu	37	15	93515518	93515518	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:93515518G>A	ENST00000394196.4	+	19	3444	c.2376G>A	c.(2374-2376)aaG>aaA	p.K792K	CHD2_ENST00000557381.1_Silent_p.K792K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	792					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGTGGGAAGTTGATTTTAT	0.363																																																	0													91.0	88.0	89.0					15																	93515518		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2376G>A	15.37:g.93515518G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C6G482|Q96IP5	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K792	ENST00000394196.4	37	c.2376	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	G	NM_001271		93515518	+1	no_errors	ENST00000557381	ensembl	human	putative	70_37	silent	SNP	1.000	A
CHRNB2	1141	genome.wustl.edu	37	1	154544260	154544260	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:154544260G>A	ENST00000368476.3	+	5	1225	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	321					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGTGCTCAACGTGCACCACCG	0.642																																																	0													105.0	77.0	87.0					1																	154544260		2203	4300	6503	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.961G>A	1.37:g.154544260G>A	ENSP00000357461:p.Val321Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V321M	ENST00000368476.3	37	c.961	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229585	0.79688	.	.	ENSG00000160716	ENST00000368476	D	0.87729	-2.29	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94369	0.7594	10	0.72032	D	0.01	.	15.8078	0.78527	0.0:0.0:1.0:0.0	.	321	P17787	ACHB2_HUMAN	M	321	ENSP00000357461:V321M	ENSP00000357461:V321M	V	+	1	0	CHRNB2	152810884	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.412000	0.73303	2.024000	0.59613	0.313000	0.20887	GTG	CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.642	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	G	NM_000748		154544260	+1	no_errors	ENST00000368476	ensembl	human	known	70_37	missense	SNP	1.000	A
CLASP2	23122	genome.wustl.edu	37	3	33580331	33580331	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:33580331C>G	ENST00000468888.2	-	33	3578	c.3532G>C	c.(3532-3534)Gat>Cat	p.D1178H	CLASP2_ENST00000480013.1_Missense_Mutation_p.D957H|CLASP2_ENST00000359576.5_Missense_Mutation_p.D1169H|CLASP2_ENST00000539981.1_Missense_Mutation_p.D947H|CLASP2_ENST00000461133.3_Missense_Mutation_p.D937H|CLASP2_ENST00000399362.4_Missense_Mutation_p.D1177H|CLASP2_ENST00000307312.7_Missense_Mutation_p.D659H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	958	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCATTCATATCTTCTTGGCTA	0.323																																																	0													66.0	60.0	62.0					3																	33580331		1831	4081	5912	SO:0001583	missense	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3532G>C	3.37:g.33580331C>G	ENSP00000419974:p.Asp1178His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D1177H	ENST00000468888.2	37	c.3529		3	.	.	.	.	.	.	.	.	.	.	C	33	5.196246	0.94960	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.23552	1.9;1.9;1.9	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.52411	-0.8579	10	0.45353	T	0.12	-21.0214	18.9739	0.92728	0.0:1.0:0.0:0.0	.	958;1169;1177	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	H	1178;1177;1169;659;947;957;937	ENSP00000419974:D1178H;ENSP00000382297:D1177H;ENSP00000352581:D1169H	ENSP00000304743:D659H	D	-	1	0	CLASP2	33555335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.486000	0.83907	0.491000	0.48974	GAT	CLASP2	-	superfamily_ARM-type_fold		0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	C	NM_001207044		33580331	-1	no_errors	ENST00000399362	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTD2	79935	genome.wustl.edu	37	19	40732342	40732342	+	Silent	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:40732342C>G	ENST00000430325.2	-	1	255	c.207G>C	c.(205-207)ctG>ctC	p.L69L	CNTD2_ENST00000513948.1_5'Flank|CNTD2_ENST00000433940.1_Silent_p.L69L	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	69					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CCAGCGCGCTCAGCGCCTCCT	0.731																																																	0													24.0	18.0	20.0					19																	40732342		2163	4241	6404	SO:0001819	synonymous_variant	79935			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.207G>C	19.37:g.40732342C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX65	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.L69	ENST00000430325.2	37	c.207	CCDS12551.2	19																																																																																			CNTD2	-	pirsf_Cyclin_A/B/D/E		0.731	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1	C	NM_024877		40732342	-1	no_errors	ENST00000430325	ensembl	human	known	70_37	silent	SNP	0.568	G
DHFRL1	200895	genome.wustl.edu	37	3	93780081	93780081	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:93780081C>G	ENST00000394221.2	-	2	724	c.275G>C	c.(274-276)aGa>aCa	p.R92T	DHFRL1_ENST00000314636.2_Missense_Mutation_p.R92T|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	92	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ATCCAAACTTCTGGCAAGAAA	0.388																																																	0																																										SO:0001583	missense	200895			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.275G>C	3.37:g.93780081C>G	ENSP00000377768:p.Arg92Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN30|Q6P4I9	Missense_Mutation	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.R92T	ENST00000394221.2	37	c.275	CCDS2926.1	3	.	.	.	.	.	.	.	.	.	.	C	3.426	-0.117197	0.06838	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.71461	-0.57;-0.57;-0.57	0.811	-0.774	0.10991	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.720404	0.13300	U	0.398316	T	0.47002	0.1422	N	0.21545	0.675	0.29042	N	0.88504	B	0.14012	0.009	B	0.10450	0.005	T	0.28332	-1.0047	10	0.14252	T	0.57	-2.7005	4.1381	0.10181	0.0:0.281:0.0:0.719	.	92	Q86XF0	DYRL1_HUMAN	T	92	ENSP00000319170:R92T;ENSP00000377768:R92T;ENSP00000420810:R92T	ENSP00000319170:R92T	R	-	2	0	DHFRL1	95262771	0.579000	0.26725	0.982000	0.44146	0.676000	0.39594	-0.408000	0.07169	-0.221000	0.09973	-0.403000	0.06358	AGA	DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom		0.388	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	C	NM_176815		93780081	-1	no_errors	ENST00000314636	ensembl	human	known	70_37	missense	SNP	0.982	G
COL6A5	256076	genome.wustl.edu	37	3	130124439	130124439	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:130124439G>A	ENST00000432398.2	+	14	4783	c.4289G>A	c.(4288-4290)cGa>cAa	p.R1430Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1430Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1430	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGGAGTACGAGGAGACACA	0.473																																																	0													124.0	115.0	118.0					3																	130124439		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4289G>A	3.37:g.130124439G>A	ENSP00000390895:p.Arg1430Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1430Q	ENST00000432398.2	37	c.4289		3	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570728	0.13560	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.96136	-3.92;-3.92	5.58	3.8	0.43715	.	.	.	.	.	D	0.90762	0.7100	N	0.21583	0.68	0.24031	N	0.99611	B	0.27380	0.177	B	0.33960	0.173	T	0.83314	-0.0021	9	0.46703	T	0.11	.	6.5094	0.22214	0.1604:0.147:0.6926:0.0	.	1430	A8TX70-2	.	Q	1430	ENSP00000390895:R1430Q;ENSP00000265379:R1430Q	ENSP00000265379:R1430Q	R	+	2	0	COL6A5	131607129	0.997000	0.39634	0.823000	0.32752	0.173000	0.22820	2.819000	0.48049	0.750000	0.32877	-0.226000	0.12346	CGA	COL6A5	-	pfam_Collagen		0.473	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130124439	+1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.706	A
DHX16	8449	genome.wustl.edu	37	6	30633382	30633382	+	Silent	SNP	G	G	A	rs201025174		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:30633382G>A	ENST00000376442.3	-	5	990	c.795C>T	c.(793-795)caC>caT	p.H265H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	265					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCTGCCGCTCGTGCCGGCTCA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.001		0.0	False		,,,				2504	0.0																0													73.0	72.0	73.0					6																	30633382		1511	2709	4220	SO:0001819	synonymous_variant	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.795C>T	6.37:g.30633382G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H265	ENST00000376442.3	37	c.795	CCDS4685.1	6																																																																																			DHX16	-	NULL		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	G	NM_003587		30633382	-1	no_errors	ENST00000376442	ensembl	human	known	70_37	silent	SNP	0.131	A
DLC1	10395	genome.wustl.edu	37	8	13357394	13357394	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr8:13357394C>T	ENST00000276297.4	-	2	596	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DLC1_ENST00000316609.5_Missense_Mutation_p.D63N|DLC1_ENST00000511869.1_Missense_Mutation_p.D63N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	63					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGACAGCAGTCAGGTAGTGAA	0.458																																																	0													245.0	253.0	250.0					8																	13357394		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.187G>A	8.37:g.13357394C>T	ENSP00000276297:p.Asp63Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.D63N	ENST00000276297.4	37	c.187	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315666	0.40996	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29655	1.56;1.56;1.56	5.01	4.13	0.48395	.	0.154190	0.30401	N	0.009705	T	0.28101	0.0693	L	0.54323	1.7	0.31046	N	0.715812	B;B;B	0.33583	0.36;0.412;0.418	B;B;B	0.32583	0.139;0.148;0.112	T	0.38542	-0.9656	10	0.72032	D	0.01	.	9.3465	0.38111	0.0:0.7795:0.1445:0.076	.	63;63;63	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	63	ENSP00000276297:D63N;ENSP00000321034:D63N;ENSP00000425878:D63N	ENSP00000276297:D63N	D	-	1	0	DLC1	13401765	0.993000	0.37304	0.900000	0.35374	0.579000	0.36224	3.046000	0.49846	1.490000	0.48466	0.655000	0.94253	GAC	DLC1	-	NULL		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		13357394	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	missense	SNP	0.952	T
DLX3	1747	genome.wustl.edu	37	17	48072207	48072207	+	Silent	SNP	C	C	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:48072207C>A	ENST00000434704.2	-	1	381	c.156G>T	c.(154-156)tcG>tcT	p.S52S	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	52					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGGGCTGGCCCGAGTAGTAAT	0.602																																																	0													113.0	114.0	114.0					17																	48072207		2203	4300	6503	SO:0001819	synonymous_variant	1747				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.156G>T	17.37:g.48072207C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQL6	Silent	SNP	pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S52	ENST00000434704.2	37	c.156	CCDS11556.1	17																																																																																			DLX3	-	pfam_Distal-less_N		0.602	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	C			48072207	-1	no_errors	ENST00000434704	ensembl	human	known	70_37	silent	SNP	0.997	A
DOCK1	1793	genome.wustl.edu	37	10	129172094	129172094	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr10:129172094G>C	ENST00000280333.6	+	34	3528	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1140					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAAGGAGGCAGAGGAGACGAA	0.378																																																	0													117.0	123.0	121.0					10																	129172094		1991	4192	6183	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3419G>C	10.37:g.129172094G>C	ENSP00000280333:p.Arg1140Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.R1140T	ENST00000280333.6	37	c.3419		10	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995599	0.54147	.	.	ENSG00000150760	ENST00000280333	T	0.30981	1.51	5.31	5.31	0.75309	.	0.059867	0.64402	D	0.000013	T	0.44477	0.1295	M	0.70842	2.15	0.58432	D	0.999996	B;P;P	0.49447	0.141;0.924;0.621	B;P;B	0.47044	0.097;0.535;0.186	T	0.47674	-0.9099	10	0.72032	D	0.01	.	18.7621	0.91856	0.0:0.0:1.0:0.0	.	1140;1206;1140	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	T	1140	ENSP00000280333:R1140T	ENSP00000280333:R1140T	R	+	2	0	DOCK1	129062084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.525000	0.73795	2.765000	0.95021	0.655000	0.94253	AGA	DOCK1	-	superfamily_ARM-type_fold		0.378	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380		129172094	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56417462	56417462	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:56417462G>A	ENST00000361203.3	-	57	15502	c.15495C>T	c.(15493-15495)ttC>ttT	p.F5165F	DST_ENST00000370769.4_Silent_p.F5167F|DST_ENST00000421834.2_Silent_p.F3079F|DST_ENST00000370754.5_Silent_p.F5345F|DST_ENST00000370788.2_Silent_p.F3079F|DST_ENST00000446842.2_Silent_p.F4841F|DST_ENST00000244364.6_Silent_p.F2753F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5165					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)			TGGTTTCTAAGAAAGAACACT	0.418																																																	0													63.0	59.0	60.0					6																	56417462		1884	4122	6006	SO:0001819	synonymous_variant	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.15495C>T	6.37:g.56417462G>A		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	Silent	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.F5345	ENST00000361203.3	37	c.16035		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417462	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	A
DYTN	391475	genome.wustl.edu	37	2	207572075	207572075	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:207572075G>A	ENST00000452335.2	-	3	363	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	83						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGAGCTCTGGGATGCACTTGT	0.537																																																	0													75.0	76.0	75.0					2																	207572075		1978	4159	6137	SO:0001583	missense	391475			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.247C>T	2.37:g.207572075G>A	ENSP00000396593:p.Pro83Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.P83S	ENST00000452335.2	37	c.247	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678635	0.47886	.	.	ENSG00000232125	ENST00000452335	T	0.65732	-0.17	5.02	4.14	0.48551	EF-hand domain, type 1 (1);	.	.	.	.	T	0.67543	0.2904	L	0.27053	0.805	0.29536	N	0.852415	D	0.89917	1.0	D	0.83275	0.996	T	0.61633	-0.7023	9	0.54805	T	0.06	-8.7288	12.5672	0.56316	0.0808:0.0:0.9192:0.0	.	83	A2CJ06	DYTN_HUMAN	S	83	ENSP00000396593:P83S	ENSP00000396593:P83S	P	-	1	0	DYTN	207280320	0.995000	0.38212	0.960000	0.40013	0.086000	0.17979	2.187000	0.42602	2.753000	0.94483	0.655000	0.94253	CCC	DYTN	-	pfam_EF-hand_dom_typ1		0.537	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	G			207572075	-1	no_errors	ENST00000452335	ensembl	human	known	70_37	missense	SNP	0.982	A
ENHO	375704	genome.wustl.edu	37	9	34521558	34521558	+	Missense_Mutation	SNP	C	C	T	rs559403361|rs578062288		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:34521558C>T	ENST00000399775.2	-	2	561	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	46						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						GGACTGGATTCAGAGAGAGAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18114	0.0		0.0	False		,,,				2504	0.001																0													66.0	81.0	76.0					9																	34521558		2163	4262	6425	SO:0001583	missense	375704			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.136G>A	9.37:g.34521558C>T	ENSP00000382675:p.Glu46Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N666	Missense_Mutation	SNP	NULL	p.E46K	ENST00000399775.2	37	c.136	CCDS43795.1	9	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345388	0.41498	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.59	3.64	0.41730	.	0.176284	0.27469	N	0.019239	T	0.31231	0.0790	.	.	.	0.21147	N	0.999772	B	0.26445	0.149	B	0.17433	0.018	T	0.33007	-0.9885	8	0.87932	D	0	.	10.7154	0.46008	0.0:0.8079:0.1921:0.0	.	46	Q6UWT2	ENHO_HUMAN	K	46	.	ENSP00000305955:E46K	E	-	1	0	ENHO	34511558	0.964000	0.33143	0.939000	0.37840	0.867000	0.49689	2.240000	0.43088	2.381000	0.81170	0.555000	0.69702	GAA	ENHO	-	NULL		0.627	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENHO	HGNC	protein_coding	OTTHUMT00000356348.1	C	NM_198573		34521558	-1	no_errors	ENST00000399775	ensembl	human	known	70_37	missense	SNP	0.605	T
ENPP1	5167	genome.wustl.edu	37	6	132171171	132171171	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:132171171A>G	ENST00000360971.2	+	3	375	c.355A>G	c.(355-357)Aac>Gac	p.N119D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	119	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AACATTTGGGAACTGTCGCTG	0.393																																					Colon(104;336 1535 5856 11019 33782)												0													155.0	144.0	147.0					6																	132171171		2203	4300	6503	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.355A>G	6.37:g.132171171A>G	ENSP00000354238:p.Asn119Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.N119D	ENST00000360971.2	37	c.355	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260170	0.59321	.	.	ENSG00000197594	ENST00000360971	T	0.41758	0.99	5.53	5.53	0.82687	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.215941	0.41097	D	0.000945	T	0.18045	0.0433	N	0.25201	0.72	0.33835	D	0.630785	B	0.28026	0.198	B	0.28011	0.085	T	0.11036	-1.0604	10	0.45353	T	0.12	-21.1275	14.9356	0.70951	1.0:0.0:0.0:0.0	.	119	P22413	ENPP1_HUMAN	D	119	ENSP00000354238:N119D	ENSP00000354238:N119D	N	+	1	0	ENPP1	132212864	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.000000	0.70678	2.227000	0.72691	0.528000	0.53228	AAC	ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata		0.393	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	A			132171171	+1	no_errors	ENST00000360971	ensembl	human	known	70_37	missense	SNP	1.000	G
MT-CO1	4512	genome.wustl.edu	37	M	5590	5590	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrM:5590G>A	ENST00000361624.2	+	0	0				MT-CO2_ENST00000361739.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TD_ENST00000387419.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCAACAGCTAAGGACTGCAAA	0.383																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.5590G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			J01415.8	-	-		0.383	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210127	Clone_based_ensembl_gene	protein_coding		G	YP_003024028		5590	-1	no_errors	ENST00000387392	ensembl	human	novel	70_37	rna	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	GL000205.1	117544	117544	+	IGR	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrGL000205.1:117544G>C								None (None upstream) : None (None downstream)																							CGAAATTGCTGTGTGCAGCAT	0.592																																																	0																																										SO:0001628	intergenic_variant	0																															GL000205.1.37:g.117544G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_cat_dom	p.V59L		37	c.175		GL000205.1																																																																																			AC011841.1	-	pfam_D-isomer_2_OHA_DH_cat_dom	0	0.592					ENSG00000212884	Clone_based_ensembl_gene			G			117544	+1	no_errors	ENST00000391571	ensembl	human	known	70_37	missense	SNP	NULL	C
MYH2	4620	genome.wustl.edu	37	17	10440966	10440966	+	Intron	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:10440966G>A	ENST00000245503.5	-	15	1972				MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TATGGTTTCAGAAATGCAAAA	0.413																																																	0													136.0	123.0	127.0					17																	10440966		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1587+15C>T	17.37:g.10440966G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	-	NULL	ENST00000245503.5	37	c.NULL	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.528099	0.00959	.	.	ENSG00000214970	ENST00000399342	.	.	.	4.36	-3.2	0.05156	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1774	0.03865	0.5089:0.1296:0.2138:0.1477	.	.	.	.	.	-1	.	.	.	+	.	.	AC005323.1	10381691	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.181000	0.09740	-0.416000	0.07473	0.563000	0.77884	.	CTC-297N7.7	-	-		0.413	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214970	Clone_based_vega_gene	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10440966	+1	no_errors	ENST00000399342	ensembl	human	known	70_37	splice_site	SNP	0.000	A
TBX18	9096	genome.wustl.edu	37	6	85398359	85398359	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:85398359T>A	ENST00000606784.1	-	8	863	c.652A>T	c.(652-654)Att>Ttt	p.I218F	RP11-132M7.3_ENST00000592681.1_RNA|RP11-132M7.3_ENST00000586398.1_RNA|RP11-132M7.3_ENST00000589304.1_RNA|RP11-132M7.3_ENST00000591225.1_RNA|RP11-132M7.3_ENST00000590270.1_RNA|RP11-132M7.3_ENST00000587281.1_RNA|RP11-132M7.3_ENST00000423086.1_RNA			O95935	TBX18_HUMAN	T-box 18	0					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCAGGAAAAATGTAGTCTGTC	0.443																																																	0																																										SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000606784.1:c.652A>T	6.37:g.85398359T>A	ENSP00000475873:p.Ile218Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU13|Q7Z6U4|Q9UJI6	RNA	SNP	-	NULL	ENST00000606784.1	37	NULL		6	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296636	0.40594	.	.	ENSG00000112837	ENST00000416980	.	.	.	5.13	2.71	0.32032	.	.	.	.	.	T	0.16642	0.0400	.	.	.	.	.	.	B	0.25048	0.117	B	0.14023	0.01	T	0.04165	-1.0972	6	0.49607	T	0.09	.	7.0597	0.25119	0.0:0.1838:0.0:0.8162	.	292	Q8IW86	.	F	291	.	ENSP00000415771:I291F	I	-	1	0	TBX18	85455078	0.972000	0.33761	0.654000	0.29608	0.917000	0.54804	0.759000	0.26461	0.364000	0.24374	0.455000	0.32223	ATT	RP11-132M7.1	-	-		0.443	TBX18-006	PUTATIVE	basic	protein_coding	ENSG00000233513	Clone_based_vega_gene	protein_coding	OTTHUMT00000470364.1	T	NM_001080508		85398359	-1	no_errors	ENST00000330469	ensembl	human	putative	70_37	rna	SNP	0.885	A
Unknown	0	genome.wustl.edu	37	GL000220.1	118253	118253	+	IGR	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrGL000220.1:118253C>T								None (None upstream) : None (None downstream)																							ggggcgcggccggagaggcgg	0.756																																																	0																																										SO:0001628	intergenic_variant	0																															GL000220.1.37:g.118253C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		GL000220.1																																																																																			AL592188.3	-	-	0	0.756					ENSG00000263544	Clone_based_ensembl_gene			C			118253	+1	no_errors	ENST00000582153	ensembl	human	known	70_37	rna	SNP	NULL	T
ERAP2	64167	genome.wustl.edu	37	5	96249054	96249054	+	Missense_Mutation	SNP	C	C	G	rs199653916		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:96249054C>G	ENST00000437043.3	+	17	3261	c.2550C>G	c.(2548-2550)atC>atG	p.I850M	ERAP2_ENST00000379904.4_Missense_Mutation_p.I805M|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	850					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GAAAGGTTATCAAGACACAGA	0.393																																																	0													70.0	67.0	68.0					5																	96249054		2203	4300	6503	SO:0001583	missense	64167			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2550C>G	5.37:g.96249054C>G	ENSP00000400376:p.Ile850Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I850M	ENST00000437043.3	37	c.2550	CCDS4086.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.573996|2.573996	0.45902|0.45902	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000437043;ENST00000379904|ENST00000512869	T;T|.	0.09073|.	3.02;3.02|.	4.84|4.84	1.69|1.69	0.24217|0.24217	.|.	0.141451|.	0.45361|.	N|.	0.000375|.	T|T	0.53334|0.53334	0.1790|0.1790	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999997|0.999997	D;P|.	0.54047|.	0.964;0.95|.	P;P|.	0.62184|.	0.885;0.899|.	T|T	0.45702|0.45702	-0.9243|-0.9243	10|5	0.66056|.	D|.	0.02|.	.|.	3.8526|3.8526	0.08962|0.08962	0.2255:0.5479:0.1347:0.0919|0.2255:0.5479:0.1347:0.0919	.|.	805;850|.	Q6P179-3;Q6P179|.	.;ERAP2_HUMAN|.	M|E	850;805|5	ENSP00000400376:I850M;ENSP00000369235:I805M|.	ENSP00000369235:I805M|.	I|Q	+|+	3|1	3|0	ERAP2|ERAP2	96274810|96274810	0.968000|0.968000	0.33430|0.33430	0.962000|0.962000	0.40283|0.40283	0.968000|0.968000	0.65278|0.65278	-0.084000|-0.084000	0.11268|0.11268	0.502000|0.502000	0.28037|0.28037	0.563000|0.563000	0.77884|0.77884	ATC|CAA	ERAP2	-	NULL		0.393	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	C	NM_022350		96249054	+1	no_errors	ENST00000437043	ensembl	human	known	70_37	missense	SNP	0.798	G
ERBB2	2064	genome.wustl.edu	37	17	37879603	37879603	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:37879603G>C	ENST00000269571.5	+	17	2137	c.1978G>C	c.(1978-1980)Ggc>Cgc	p.G660R	ERBB2_ENST00000541774.1_Missense_Mutation_p.G645R|ERBB2_ENST00000445658.2_Missense_Mutation_p.G384R|ERBB2_ENST00000406381.2_Missense_Mutation_p.G630R|ERBB2_ENST00000584601.1_Missense_Mutation_p.G630R|ERBB2_ENST00000584450.1_Missense_Mutation_p.G660R|ERBB2_ENST00000540147.1_Missense_Mutation_p.G630R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	660					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGCGGTGGTTGGCATTCTGCT	0.617		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													124.0	111.0	116.0					17																	37879603		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1978G>C	17.37:g.37879603G>C	ENSP00000269571:p.Gly660Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G660R	ENST00000269571.5	37	c.1978	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524801	0.44969	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.80653	-1.38;-1.39;-1.39;-1.4;-1.38	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	D	0.89458	0.6721	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.987;0.995	D	0.90658	0.4588	9	0.87932	D	0	.	11.3862	0.49787	0.0836:0.0:0.9164:0.0	.	384;645;660	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	630;645;384;660;630	ENSP00000385185:G630R;ENSP00000446466:G645R;ENSP00000404047:G384R;ENSP00000269571:G660R;ENSP00000443562:G630R	ENSP00000269571:G660R	G	+	1	0	ERBB2	35133129	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.547000	0.82146	2.317000	0.78254	0.561000	0.74099	GGC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37879603	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	C
ERBB2	2064	genome.wustl.edu	37	17	37881425	37881425	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:37881425G>A	ENST00000269571.5	+	21	2776	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	ERBB2_ENST00000541774.1_Missense_Mutation_p.D858N|ERBB2_ENST00000445658.2_Missense_Mutation_p.D597N|ERBB2_ENST00000406381.2_Missense_Mutation_p.D843N|ERBB2_ENST00000584601.1_Missense_Mutation_p.D843N|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.D873N|ERBB2_ENST00000540147.1_Missense_Mutation_p.D843N			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTGGACATTGACGAGACAGA	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													68.0	69.0	69.0					17																	37881425		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2617G>A	17.37:g.37881425G>A	ENSP00000269571:p.Asp873Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D873N	ENST00000269571.5	37	c.2617	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981089	0.53827	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88370	0.6418	L	0.46567	1.45	0.80722	D	1	P;D;P	0.71674	0.733;0.998;0.545	B;D;B	0.69654	0.424;0.965;0.311	D	0.89307	0.3630	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	597;858;873	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	N	843;858;597;873;843	ENSP00000385185:D843N;ENSP00000446466:D858N;ENSP00000404047:D597N;ENSP00000269571:D873N;ENSP00000443562:D843N	ENSP00000269571:D873N	D	+	1	0	ERBB2	35134951	1.000000	0.71417	0.788000	0.31933	0.926000	0.56050	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GAC	ERBB2	-	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_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37881425	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.998	A
FCF1	51077	genome.wustl.edu	37	14	75182714	75182714	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:75182714C>T	ENST00000341162.4	+	4	258	c.204C>T	c.(202-204)caC>caT	p.H68H	AC007956.1_ENST00000338772.5_5'Flank|AREL1_ENST00000356357.4_5'Flank|AREL1_ENST00000557401.1_5'Flank|FCF1_ENST00000534938.2_Silent_p.H56H|FCF1_ENST00000553615.1_Silent_p.H53H	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	68	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CACCTTACCACATCCTCGTTG	0.388																																																	0													130.0	126.0	128.0					14																	75182714		2203	4300	6503	SO:0001819	synonymous_variant	51077			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.204C>T	14.37:g.75182714C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86TW8|Q8TBL8	Missense_Mutation	SNP	NULL	p.T54I	ENST00000341162.4	37	c.161	CCDS9832.1	14																																																																																			FCF1	-	NULL		0.388	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCF1	HGNC	protein_coding	OTTHUMT00000413622.1	C	NM_015962		75182714	+1	no_errors	ENST00000556814	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXJ2	55810	genome.wustl.edu	37	12	8192501	8192501	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:8192501G>A	ENST00000162391.3	+	2	1218	c.73G>A	c.(73-75)Gag>Aag	p.E25K	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E25K	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	25					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGCTACCATTGAGAAGCTTGG	0.582																																																	0													77.0	79.0	78.0					12																	8192501		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.73G>A	12.37:g.8192501G>A	ENSP00000162391:p.Glu25Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E25K	ENST00000162391.3	37	c.73	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	g	22.9	4.350918	0.82132	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.34;-3.52	5.05	4.09	0.47781	.	0.088837	0.47852	D	0.000217	T	0.82235	0.4993	N	0.03608	-0.345	0.33977	D	0.647534	B;B	0.20988	0.012;0.05	B;B	0.17722	0.01;0.019	T	0.78753	-0.2081	10	0.13853	T	0.58	.	6.3842	0.21552	0.0971:0.1874:0.7156:0.0	.	25;25	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	K	25	ENSP00000162391:E25K;ENSP00000403411:E25K	ENSP00000162391:E25K	E	+	1	0	FOXJ2	8083768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.908000	0.56355	2.363000	0.80096	0.555000	0.69702	GAG	FOXJ2	-	NULL		0.582	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	G	NM_018416		8192501	+1	no_errors	ENST00000162391	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRB2	2561	genome.wustl.edu	37	5	160973755	160973755	+	5'UTR	SNP	A	A	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:160973755A>G	ENST00000274547.2	-	0	112				GABRB2_ENST00000517547.1_5'Flank|GABRB2_ENST00000520240.1_5'UTR|GABRB2_ENST00000353437.6_5'UTR|GABRB2_ENST00000393959.1_5'Flank|GABRB2_ENST00000517901.1_5'UTR|GABRB2_ENST00000523730.1_5'UTR	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2						cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGGCGTACCAAAACATCAAA	0.423																																																	0																																										SO:0001623	5_prime_UTR_variant	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000274547.2:c.-106T>C	5.37:g.160973755A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	RNA	SNP	-	NULL	ENST00000274547.2	37	NULL	CCDS4355.1	5																																																																																			GABRB2	-	-		0.423	GABRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding		A			160973755	-1	no_errors	ENST00000523730	ensembl	human	known	70_37	rna	SNP	1.000	G
GPR173	54328	genome.wustl.edu	37	X	53106076	53106076	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:53106076C>G	ENST00000332582.4	+	2	764	c.273C>G	c.(271-273)ttC>ttG	p.F91L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	91					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CATGGACCTTCAGTGCACTCA	0.577																																																	0													116.0	97.0	103.0					X																	53106076		2203	4300	6503	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.273C>G	X.37:g.53106076C>G	ENSP00000331600:p.Phe91Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F91L	ENST00000332582.4	37	c.273	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384442	0.42308	.	.	ENSG00000184194	ENST00000332582	T	0.38722	1.12	4.25	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.065336	0.64402	D	0.000006	T	0.23210	0.0561	N	0.10874	0.06	0.41847	D	0.990151	B	0.20368	0.044	B	0.26614	0.071	T	0.04825	-1.0924	10	0.27082	T	0.32	-9.0421	9.1726	0.37091	0.0:0.8889:0.0:0.1111	.	91	Q9NS66	GP173_HUMAN	L	91	ENSP00000331600:F91L	ENSP00000331600:F91L	F	+	3	2	GPR173	53122801	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.977000	0.63792	0.821000	0.34540	0.529000	0.55759	TTC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.577	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	C	NM_018969		53106076	+1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR174	84636	genome.wustl.edu	37	X	78426971	78426971	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:78426971G>C	ENST00000276077.1	+	1	503	c.467G>C	c.(466-468)aGa>aCa	p.R156T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCACTCCTCAGAACCAGTGAT	0.488										HNSCC(63;0.18)																																							0													159.0	133.0	142.0					X																	78426971		2203	4300	6503	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.467G>C	X.37:g.78426971G>C	ENSP00000276077:p.Arg156Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.R156T	ENST00000276077.1	37	c.467	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	g	14.75	2.629215	0.46944	.	.	ENSG00000147138	ENST00000276077	T	0.36340	1.26	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.48935	1.535	0.45594	D	0.998537	D	0.71674	0.998	D	0.77557	0.99	T	0.45702	-0.9243	10	0.31617	T	0.26	.	15.6788	0.77352	0.0:0.0:1.0:0.0	.	156	Q9BXC1	GP174_HUMAN	T	156	ENSP00000276077:R156T	ENSP00000276077:R156T	R	+	2	0	GPR174	78313627	1.000000	0.71417	0.986000	0.45419	0.702000	0.40608	5.976000	0.70484	2.001000	0.58596	0.488000	0.48403	AGA	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	G	NM_032553		78426971	+1	no_errors	ENST00000276077	ensembl	human	known	70_37	missense	SNP	0.993	C
GTF2I	2969	genome.wustl.edu	37	7	74113412	74113412	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:74113412C>T	ENST00000324896.4	+	4	749	c.360C>T	c.(358-360)ttC>ttT	p.F120F	GTF2I_ENST00000443166.1_Silent_p.F120F|GTF2I_ENST00000353920.4_Silent_p.F120F|GTF2I_ENST00000346152.4_Silent_p.F120F|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Silent_p.F120F|AC083884.8_ENST00000594967.1_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	120					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGACTATTTCTGCTTTTGCT	0.308																																																	0													39.0	39.0	39.0					7																	74113412		2200	4299	6499	SO:0001819	synonymous_variant	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.360C>T	7.37:g.74113412C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.F120	ENST00000324896.4	37	c.360	CCDS5573.1	7																																																																																			GTF2I	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.308	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	C	NM_032999		74113412	+1	no_errors	ENST00000324896	ensembl	human	known	70_37	silent	SNP	1.000	T
HCFC2	29915	genome.wustl.edu	37	12	104474574	104474574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:104474574C>T	ENST00000229330.4	+	5	837	c.733C>T	c.(733-735)Cga>Tga	p.R245*		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	245					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCCACTTCCACGAAGCCTTCA	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													110.0	109.0	109.0					12																	104474574		2202	4300	6502	SO:0001587	stop_gained	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.733C>T	12.37:g.104474574C>T	ENSP00000229330:p.Arg245*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R245*	ENST00000229330.4	37	c.733	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.496734	0.97616	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.75	4.83	0.62350	.	0.123045	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8529	13.8583	0.63542	0.2745:0.7255:0.0:0.0	.	.	.	.	X	245	.	ENSP00000229330:R245X	R	+	1	2	HCFC2	102998704	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.391000	0.34475	2.725000	0.93324	0.655000	0.94253	CGA	HCFC2	-	pfam_Kelch_1		0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104474574	+1	no_errors	ENST00000229330	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HGFAC	3083	genome.wustl.edu	37	4	3446052	3446052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr4:3446052G>T	ENST00000382774.3	+	6	728	c.613G>T	c.(613-615)Gag>Tag	p.E205*	HGFAC_ENST00000511533.1_Nonsense_Mutation_p.E205*	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	205	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGCTTTGATGAGACCCGCTA	0.682																																																	0													14.0	17.0	16.0					4																	3446052		2157	4283	6440	SO:0001587	stop_gained	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.613G>T	4.37:g.3446052G>T	ENSP00000372224:p.Glu205*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14726|Q2M1W7|Q53X47	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E205*	ENST00000382774.3	37	c.613	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310929	0.81358	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	.	.	.	3.61	3.61	0.41365	.	0.324812	0.28977	N	0.013524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.9622	0.35854	0.0:0.2287:0.7713:0.0	.	.	.	.	X	205	.	ENSP00000372224:E205X	E	+	1	0	HGFAC	3415850	0.000000	0.05858	0.984000	0.44739	0.139000	0.21198	0.603000	0.24149	1.858000	0.53909	0.313000	0.20887	GAG	HGFAC	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Fibronectin_type1		0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3446052	+1	no_errors	ENST00000382774	ensembl	human	known	70_37	nonsense	SNP	0.664	T
HLA-G	3135	genome.wustl.edu	37	6	29796006	29796006	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:29796006G>C	ENST00000360323.6	+	2	280	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	HLA-G_ENST00000376828.2_Missense_Mutation_p.E91Q|HLA-G_ENST00000428701.1_Missense_Mutation_p.E86Q|HLA-G_ENST00000376815.3_Missense_Mutation_p.E86Q|HLA-G_ENST00000376818.3_Missense_Mutation_p.E86Q			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	86	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTATTGGGAAGAGGAGACACG	0.642																																																	0													63.0	40.0	48.0					6																	29796006		1511	2709	4220	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.256G>C	6.37:g.29796006G>C	ENSP00000353472:p.Glu86Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E91Q	ENST00000360323.6	37	c.271	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	1.947	-0.442265	0.04604	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00700	5.82;5.82;5.82;5.82;5.82	1.71	-3.42	0.04825	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	5.397930	0.03049	U	0.154315	T	0.00356	0.0011	L	0.37697	1.125	0.09310	N	1	B;B;B;B	0.33379	0.31;0.005;0.41;0.009	B;B;B;B	0.41174	0.056;0.012;0.349;0.008	T	0.43048	-0.9415	10	0.14656	T	0.56	.	9.4309	0.38608	0.0:0.3909:0.6091:0.0	.	86;91;86;86	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	Q	91;86;86;86;86	ENSP00000366024:E91Q;ENSP00000412927:E86Q;ENSP00000353472:E86Q;ENSP00000366014:E86Q;ENSP00000366011:E86Q	ENSP00000353472:E86Q	E	+	1	0	HLA-G	29903985	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.413000	0.00479	-1.102000	0.03023	-0.846000	0.03041	GAG	HLA-G	-	pfam_MHC_I_a_a1/a2,prints_MHC_I_a_a1/a2		0.642	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	G	NM_002127		29796006	+1	no_errors	ENST00000376828	ensembl	human	known	70_37	missense	SNP	0.000	C
HSD17B14	51171	genome.wustl.edu	37	19	49339660	49339660	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49339660C>T	ENST00000263278.4	-	1	275	c.9G>A	c.(7-9)acG>acA	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67.0	55.0	59.0					19																	49339660		2203	4300	6503	SO:0001819	synonymous_variant	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.9G>A	19.37:g.49339660C>T		Somatic	961	WXS	Illumina HiSeq	Phase_IV	Q9UKU3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.T3	ENST00000263278.4	37	c.9	CCDS12736.1	19																																																																																			HSD17B14	-	NULL		0.647	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	C	NM_016246		49339660	-1	no_errors	ENST00000263278	ensembl	human	known	70_37	silent	SNP	0.000	T
INS-IGF2	723961	genome.wustl.edu	37	11	2168806	2168806	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:2168806C>T	ENST00000397270.1	-	0	697				IGF2_ENST00000300632.5_5'UTR|IGF2-AS_ENST00000381363.4_RNA|IGF2-AS_ENST00000445504.2_RNA|IGF2-AS_ENST00000381361.3_RNA|INS-IGF2_ENST00000481781.1_5'UTR	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough							extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CTCTCTGCCTCGCAGTTGGGG	0.672																																																	0													2.0	2.0	2.0					11																	2168806		1552	3428	4980	SO:0001624	3_prime_UTR_variant	51214			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.*36G>A	11.37:g.2168806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WM24	RNA	SNP	-	NULL	ENST00000397270.1	37	NULL	CCDS41598.1	11																																																																																			IGF2-AS	-	-		0.672	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	IGF2-AS	HGNC	protein_coding	OTTHUMT00000388404.1	C	NM_001042376.2		2168806	+1	no_errors	ENST00000381361	ensembl	human	known	70_37	rna	SNP	0.106	T
INSL3	3640	genome.wustl.edu	37	19	17927708	17927708	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:17927708G>A	ENST00000317306.7	-	2	367	c.351C>T	c.(349-351)ctC>ctT	p.L117L	INSL3_ENST00000379695.5_Missense_Mutation_p.S149L	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	117					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)			breast(1)|lung(1)	2						TACAGCCACTGAGGCAGCAGT	0.637																																																	0													117.0	103.0	108.0					19																	17927708		2203	4300	6503	SO:0001819	synonymous_variant	3640				CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"""Endogenous ligands"""	6086	protein-coding gene	gene with protein product	"""prepro-INSL3"""	146738	"""relaxin-like factor"""	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.351C>T	19.37:g.17927708G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Missense_Mutation	SNP	superfamily_Insulin-like	p.S149L	ENST00000317306.7	37	c.446	CCDS12365.1	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040155	0.35989	.	.	ENSG00000248099	ENST00000379695	T	0.36699	1.24	3.87	1.57	0.23409	.	1950.110000	0.00864	U	0.001949	T	0.25717	0.0626	.	.	.	0.18873	N	0.999983	P	0.34639	0.461	B	0.33339	0.162	T	0.14980	-1.0453	8	.	.	.	.	5.4832	0.16735	0.1186:0.2211:0.6603:0.0	.	149	G3XAG0	.	L	149	ENSP00000369017:S149L	.	S	-	2	0	INSL3	17788708	0.006000	0.16342	0.441000	0.26858	0.122000	0.20287	-0.012000	0.12699	0.286000	0.22352	0.435000	0.28638	TCA	INSL3	-	NULL		0.637	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL3	HGNC	protein_coding	OTTHUMT00000466836.1	G	NM_005543		17927708	-1	no_errors	ENST00000379695	ensembl	human	putative	70_37	missense	SNP	0.512	A
ITGA8	8516	genome.wustl.edu	37	10	15561412	15561412	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr10:15561412C>T	ENST00000378076.3	-	29	3336		c.e29-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATGTCTTAATCTGAAATGGAA	0.358																																																	0													114.0	123.0	120.0					10																	15561412		2203	4299	6502	SO:0001630	splice_region_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2983-1G>A	10.37:g.15561412C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ31|Q5VX94	Splice_Site	SNP	-	e29-1	ENST00000378076.3	37	c.2983-1	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604621	0.87157	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5149	0.90933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15601418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.475000	0.73582	2.822000	0.97130	0.650000	0.86243	.	ITGA8	-	-		0.358	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638	Intron	15561412	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ITGAX	3687	genome.wustl.edu	37	16	31368669	31368669	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr16:31368669C>T	ENST00000268296.4	+	5	535	c.414C>T	c.(412-414)ctC>ctT	p.L138L	ITGAX_ENST00000562522.1_Silent_p.L138L|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	138					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCAGAGGCTCCCGGTGTCCA	0.657																																																	0													19.0	17.0	18.0					16																	31368669		2197	4296	6493	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.414C>T	16.37:g.31368669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVA6	Silent	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.L138	ENST00000268296.4	37	c.414	CCDS10711.1	16																																																																																			ITGAX	-	NULL		0.657	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31368669	+1	no_errors	ENST00000268296	ensembl	human	known	70_37	silent	SNP	0.034	T
ITPKA	3706	genome.wustl.edu	37	15	41786582	41786582	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:41786582G>T	ENST00000260386.5	+	1	510	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	153					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCGCGGCAACGTGCAGCTGGA	0.736																																																	0													3.0	3.0	3.0					15																	41786582		1854	3681	5535	SO:0001583	missense	3706			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.457G>T	15.37:g.41786582G>T	ENSP00000260386:p.Val153Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAN3	Missense_Mutation	SNP	pfam_IPK	p.V153L	ENST00000260386.5	37	c.457	CCDS10076.1	15	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410103	0.42715	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T	0.45276	0.9	2.98	2.98	0.34508	.	0.000000	0.64402	D	0.000004	T	0.34803	0.0910	L	0.50333	1.59	0.40179	D	0.977261	P	0.47302	0.893	B	0.42625	0.393	T	0.29181	-1.0020	10	0.07030	T	0.85	-1.2432	14.423	0.67196	0.0:0.0:1.0:0.0	.	153	P23677	IP3KA_HUMAN	L	48;153	ENSP00000260386:V153L	ENSP00000260386:V153L	V	+	1	0	ITPKA	39573874	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.176000	0.50863	1.669000	0.50854	0.455000	0.32223	GTG	ITPKA	-	NULL		0.736	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	G	NM_002220		41786582	+1	no_errors	ENST00000260386	ensembl	human	known	70_37	missense	SNP	1.000	T
JPH3	57338	genome.wustl.edu	37	16	87678345	87678345	+	Silent	SNP	C	C	T	rs565470642		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr16:87678345C>T	ENST00000284262.2	+	2	1106	c.864C>T	c.(862-864)taC>taT	p.Y288Y		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	288					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCGAGACCTACGTGGGCGAGT	0.677																																																	0													89.0	85.0	86.0					16																	87678345		2198	4300	6498	SO:0001819	synonymous_variant	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.864C>T	16.37:g.87678345C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Y288	ENST00000284262.2	37	c.864	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin,pfam_MORN,smart_MORN		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	C			87678345	+1	no_errors	ENST00000284262	ensembl	human	known	70_37	silent	SNP	1.000	T
GLTSCR1L	23506	genome.wustl.edu	37	6	42790704	42790704	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:42790704C>T	ENST00000314073.5	+	5	298	c.122C>T	c.(121-123)tCt>tTt	p.S41F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S41F			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	41																	GCAGGATATTCTGCAGCCAAT	0.353																																																	0													118.0	107.0	110.0					6																	42790704		2202	4300	6502	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.122C>T	6.37:g.42790704C>T	ENSP00000313933:p.Ser41Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.S41F	ENST00000314073.5	37	c.122	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579136	0.86645	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.51325	0.71;0.71	6.05	6.05	0.98169	.	0.159446	0.45867	D	0.000334	T	0.49474	0.1559	L	0.51422	1.61	0.58432	D	0.999992	P;B;B	0.46142	0.873;0.069;0.25	P;B;B	0.49999	0.628;0.068;0.066	T	0.49986	-0.8880	10	0.87932	D	0	-2.9362	20.6087	0.99469	0.0:1.0:0.0:0.0	.	41;41;41	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	F	41	ENSP00000313933:S41F;ENSP00000377723:S41F	ENSP00000313933:S41F	S	+	2	0	KIAA0240	42898682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.310000	0.65780	2.866000	0.98385	0.650000	0.86243	TCT	KIAA0240	-	NULL		0.353	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42790704	+1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	1.000	T
KLF17	128209	genome.wustl.edu	37	1	44596347	44596347	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:44596347G>A	ENST00000372299.3	+	3	1147	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	363					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AACACCAGAAGACTCATCGGC	0.527																																																	0													123.0	106.0	112.0					1																	44596347		2203	4300	6503	SO:0001819	synonymous_variant	128209			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1089G>A	1.37:g.44596347G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VQ7|Q8N805	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K363	ENST00000372299.3	37	c.1089	CCDS508.1	1																																																																																			KLF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	G	NM_173484		44596347	+1	no_errors	ENST00000372299	ensembl	human	known	70_37	silent	SNP	0.687	A
KIF21B	23046	genome.wustl.edu	37	1	200977902	200977902	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:200977902G>A	ENST00000422435.2	-	3	758	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	KIF21B_ENST00000360529.5_Silent_p.L148L|KIF21B_ENST00000461742.2_Silent_p.L148L|KIF21B_ENST00000332129.2_Silent_p.L148L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	148	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						AGTACCTCCAGAAACTGGGCG	0.637																																																	0													66.0	73.0	70.0					1																	200977902		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.442C>T	1.37:g.200977902G>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.L148	ENST00000422435.2	37	c.442	CCDS58056.1	1																																																																																			KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	G	XM_371332		200977902	-1	no_errors	ENST00000422435	ensembl	human	known	70_37	silent	SNP	1.000	A
KLRC1	3821	genome.wustl.edu	37	12	10603153	10603153	+	Silent	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:10603153G>T	ENST00000359151.3	-	3	394	c.213C>A	c.(211-213)ctC>ctA	p.L71L	KLRC1_ENST00000536188.1_Silent_p.L71L|KLRC1_ENST00000544822.1_Silent_p.L71L|KLRC1_ENST00000408006.3_Silent_p.L71L|KLRC1_ENST00000347831.5_Silent_p.L71L	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	71					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TCCCAACAATGAGCTTCTCTG	0.428																																																	0													105.0	103.0	104.0					12																	10603153		2203	4300	6503	SO:0001819	synonymous_variant	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.213C>A	12.37:g.10603153G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L71	ENST00000359151.3	37	c.213	CCDS8625.1	12																																																																																			KLRC1	-	pfam_Herpes_UL45-like		0.428	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	G	NM_002259		10603153	-1	no_errors	ENST00000359151	ensembl	human	known	70_37	silent	SNP	1.000	T
LOC63930	63930	genome.wustl.edu	37	20	61665882	61665882	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr20:61665882G>C	ENST00000607802.1	+	0	91				LINC00029_ENST00000370341.3_lincRNA	NR_033370.1																						TTCAGACGCAGAGTGCGTGTG	0.582																																																	0																																												100144596																															20.37:g.61665882G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000607802.1	37	NULL		20																																																																																			LINC00029	-	-		0.582	RP11-305P22.9-001	KNOWN	basic	lincRNA	LINC00029	HGNC	lincRNA	OTTHUMT00000470475.1	G			61665882	-1	no_errors	ENST00000370341	ensembl	human	known	70_37	rna	SNP	0.001	C
LMTK3	114783	genome.wustl.edu	37	19	49013842	49013842	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:49013842G>A	ENST00000600059.1	-	2	311	c.84C>T	c.(82-84)ttC>ttT	p.F28F	CTC-273B12.10_ENST00000598924.1_lincRNA|LMTK3_ENST00000270238.3_Silent_p.F57F			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	28					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCCCAGGGCGAATCCATCTG	0.637																																																	0													29.0	41.0	37.0					19																	49013842		1998	4169	6167	SO:0001819	synonymous_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.84C>T	19.37:g.49013842G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F57	ENST00000600059.1	37	c.171		19																																																																																			LMTK3	-	NULL		0.637	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49013842	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	silent	SNP	1.000	A
LOC401463	401463	genome.wustl.edu	37	8	65488963	65488963	+	RNA	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr8:65488963C>T	ENST00000520834.1	-	0	603				RP11-21C4.1_ENST00000517909.1_RNA	NR_015374.1																						CAGTGGAGGGCGCTGAGACCG	0.662																																																	0																																												401463																															8.37:g.65488963C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000520834.1	37	NULL		8																																																																																			RP11-21C4.1	-	-		0.662	RP11-21C4.1-002	KNOWN	basic	antisense	LOC401463	Clone_based_vega_gene	antisense	OTTHUMT00000378547.1	C			65488963	-1	no_errors	ENST00000517909	ensembl	human	known	70_37	rna	SNP	0.008	T
MAGEE1	57692	genome.wustl.edu	37	X	75648955	75648955	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:75648955C>T	ENST00000361470.2	+	1	910	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	211	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAGGCACCTCCGTGCCGCTC	0.687																																																	0													19.0	16.0	17.0					X																	75648955		2196	4279	6475	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.632C>T	X.37:g.75648955C>T	ENSP00000354912:p.Ser211Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S211F	ENST00000361470.2	37	c.632	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966519	0.18659	.	.	ENSG00000198934	ENST00000361470	T	0.30714	1.52	1.93	-3.35	0.04928	.	.	.	.	.	T	0.18425	0.0442	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	9	0.87932	D	0	.	3.3505	0.07150	0.3385:0.4323:0.0:0.2293	.	211	Q9HCI5	MAGE1_HUMAN	F	211	ENSP00000354912:S211F	ENSP00000354912:S211F	S	+	2	0	MAGEE1	75565359	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.613000	0.05610	-1.239000	0.02532	-0.735000	0.03563	TCC	MAGEE1	-	NULL		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75648955	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.000	T
MAGEE1	57692	genome.wustl.edu	37	X	75649207	75649207	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:75649207C>T	ENST00000361470.2	+	1	1162	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	295	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCAAGCACCTCCGTGCCCCCC	0.701																																																	0													25.0	22.0	23.0					X																	75649207		2198	4297	6495	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.884C>T	X.37:g.75649207C>T	ENSP00000354912:p.Ser295Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S295F	ENST00000361470.2	37	c.884	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592773	0.46214	.	.	ENSG00000198934	ENST00000361470	T	0.25085	1.82	1.6	0.657	0.17850	.	.	.	.	.	T	0.12774	0.0310	N	0.14661	0.345	0.09310	N	1	P	0.50819	0.939	B	0.39094	0.29	T	0.14699	-1.0463	9	0.66056	D	0.02	.	6.6855	0.23142	0.2788:0.7212:0.0:0.0	.	295	Q9HCI5	MAGE1_HUMAN	F	295	ENSP00000354912:S295F	ENSP00000354912:S295F	S	+	2	0	MAGEE1	75565611	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.035000	0.12205	0.119000	0.18210	0.431000	0.28591	TCC	MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	C	NM_020932		75649207	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.086	T
MAP2	4133	genome.wustl.edu	37	2	210561651	210561651	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:210561651G>A	ENST00000360351.4	+	9	4904	c.4398G>A	c.(4396-4398)aaG>aaA	p.K1466K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.K1462K|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1466	Calmodulin-binding. {ECO:0000255}.				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)	CAGTTTATAAGAAGGCTGAAC	0.338																																					Pancreas(27;423 979 28787 29963)												0													39.0	41.0	40.0					2																	210561651		2203	4300	6503	SO:0001819	synonymous_variant	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.4398G>A	2.37:g.210561651G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.K1466	ENST00000360351.4	37	c.4398	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn		0.338	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210561651	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210561658	210561658	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:210561658G>A	ENST00000360351.4	+	9	4911	c.4405G>A	c.(4405-4407)Gaa>Aaa	p.E1469K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1465K|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1469					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)	TAAGAAGGCTGAACTTGCTAA	0.348																																					Pancreas(27;423 979 28787 29963)												0													43.0	45.0	45.0					2																	210561658		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.4405G>A	2.37:g.210561658G>A	ENSP00000353508:p.Glu1469Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1469K	ENST00000360351.4	37	c.4405	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759471	0.69763	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25250	1.81;1.81	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000007	T	0.40670	0.1126	M	0.61703	1.905	0.58432	D	0.999994	P;P	0.48016	0.882;0.904	P;P	0.49477	0.477;0.612	T	0.09596	-1.0667	10	0.46703	T	0.11	-8.0958	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1465;1469	P11137-3;P11137	.;MAP2_HUMAN	K	1469;1465	ENSP00000353508:E1469K;ENSP00000392164:E1465K	ENSP00000353508:E1469K	E	+	1	0	MAP2	210269903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.673000	0.90976	0.650000	0.86243	GAA	MAP2	-	pfam_MAP2_projctn		0.348	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210561658	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK8IP1	9479	genome.wustl.edu	37	11	45924612	45924612	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:45924612G>A	ENST00000241014.2	+	5	1464	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E422K|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	432	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGGAATATGAGGAGGCCCC	0.592																																																	0													32.0	34.0	33.0					11																	45924612		2203	4299	6502	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1294G>A	11.37:g.45924612G>A	ENSP00000241014:p.Glu432Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP4|O43407	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.E432K	ENST00000241014.2	37	c.1294	CCDS7916.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975703	0.74360	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.20738	2.05;2.05	4.98	4.98	0.66077	Src homology-3 domain (1);	0.104963	0.64402	D	0.000007	T	0.36082	0.0954	M	0.62723	1.935	0.54753	D	0.999984	P	0.43352	0.804	P	0.49752	0.621	T	0.04373	-1.0956	10	0.45353	T	0.12	-26.6512	18.442	0.90670	0.0:0.0:1.0:0.0	.	432	Q9UQF2	JIP1_HUMAN	K	432;422	ENSP00000241014:E432K;ENSP00000378991:E422K	ENSP00000241014:E432K	E	+	1	0	MAPK8IP1	45881188	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.138000	0.77305	2.598000	0.87819	0.561000	0.74099	GAG	MAPK8IP1	-	superfamily_SH3_domain		0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	G	NM_005456		45924612	+1	no_errors	ENST00000241014	ensembl	human	known	70_37	missense	SNP	1.000	A
MDGA2	161357	genome.wustl.edu	37	14	47504461	47504461	+	Silent	SNP	G	G	C	rs145338495		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr14:47504461G>C	ENST00000399232.2	-	8	1729	c.1365C>G	c.(1363-1365)acC>acG	p.T455T	MDGA2_ENST00000357362.3_Silent_p.T226T|MDGA2_ENST00000426342.1_Silent_p.T226T|MDGA2_ENST00000439988.3_Silent_p.T524T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	455	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTCCTTCTCTGGTGACCAATG	0.393																																																	0													177.0	149.0	158.0					14																	47504461		1883	4113	5996	SO:0001819	synonymous_variant	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1365C>G	14.37:g.47504461G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q218E	ENST00000399232.2	37	c.652		14	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717737	0.48622	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.69548	0.3123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67550	-0.5642	4	.	.	.	.	13.8407	0.63437	0.0:0.0:0.8466:0.1534	.	.	.	.	E	230	.	.	Q	-	1	0	MDGA2	46574211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.247000	0.43151	2.608000	0.88229	0.491000	0.48974	CAG	MDGA2	-	NULL		0.393	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47504461	-1	no_errors	ENST00000557238	ensembl	human	known	70_37	missense	SNP	1.000	C
MPP2	4355	genome.wustl.edu	37	17	41958920	41958920	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:41958920C>T	ENST00000461854.1	-	8	876	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MPP2_ENST00000269095.4_Missense_Mutation_p.R240Q|MPP2_ENST00000518766.1_Missense_Mutation_p.R285Q|MPP2_ENST00000377184.3_Missense_Mutation_p.R257Q|MPP2_ENST00000536246.1_Missense_Mutation_p.R229Q|MPP2_ENST00000520305.1_Missense_Mutation_p.R101Q|MPP2_ENST00000523501.1_Missense_Mutation_p.R229Q|MPP2_ENST00000473246.1_5'Flank			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	264	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GAGGCTGTCTCGGGCCGGGTC	0.587																																																	0													58.0	54.0	55.0					17																	41958920		2203	4300	6503	SO:0001583	missense	4355				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.791G>A	17.37:g.41958920C>T	ENSP00000428286:p.Arg264Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R264Q	ENST00000461854.1	37	c.791		17	.	.	.	.	.	.	.	.	.	.	c	13.33	2.204167	0.38905	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15	5.1	3.12	0.35913	.	.	.	.	.	T	0.04770	0.0129	N	0.11106	0.095	0.09310	N	1	B;B	0.25904	0.067;0.137	B;B	0.20184	0.028;0.016	T	0.41431	-0.9509	9	0.33940	T	0.23	.	9.4741	0.38860	0.0:0.8288:0.0:0.1712	.	285;257	E7EV80;Q14168-3	.;.	Q	257;240;264;101;229;229;285	ENSP00000366389:R257Q;ENSP00000269095:R240Q;ENSP00000428286:R264Q;ENSP00000428136:R101Q;ENSP00000430540:R229Q;ENSP00000438012:R229Q;ENSP00000428182:R285Q	ENSP00000269095:R240Q	R	-	2	0	MPP2	39314446	0.000000	0.05858	0.035000	0.18076	0.995000	0.86356	0.514000	0.22786	0.751000	0.32900	0.555000	0.69702	CGA	MPP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.587	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	C	NM_005374		41958920	-1	no_errors	ENST00000461854	ensembl	human	known	70_37	missense	SNP	0.019	T
MT-ND5	4540	genome.wustl.edu	37	M	13393	13393	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrM:13393G>A	ENST00000361567.2	+	1	1057	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	353					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACCTTAACAATGAACAAGATA	0.453																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1057G>A	M.37:g.13393G>A	ENSP00000354813:p.Glu353Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.E353K	ENST00000361567.2	37	c.1057		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13393	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
MTR	4548	genome.wustl.edu	37	1	236958908	236958908	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:236958908C>T	ENST00000366577.5	+	0	299				MTR_ENST00000418145.2_Silent_p.L96L|MTR_ENST00000535889.1_5'Flank	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGGCAGGCTCGCCTGGCGCT	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.-96C>T	1.37:g.236958908C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pfscan_S_MeTrfase	p.L96	ENST00000366577.5	37	c.288	CCDS1614.1	1																																																																																			MTR	-	pfscan_S_MeTrfase		0.692	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	C	NM_000254		236958908	+1	no_errors	ENST00000418145	ensembl	human	known	70_37	silent	SNP	0.000	T
NAV3	89795	genome.wustl.edu	37	12	78444771	78444771	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:78444771G>A	ENST00000397909.2	+	11	2533	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.R787Q|NAV3_ENST00000228327.6_Missense_Mutation_p.R787Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R787Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	787						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTCTCCGTCGAGCTGCTGTC	0.542										HNSCC(70;0.22)																																							0													61.0	62.0	62.0					12																	78444771		2090	4211	6301	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2360G>A	12.37:g.78444771G>A	ENSP00000381007:p.Arg787Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R787Q	ENST00000397909.2	37	c.2360		12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323202	0.81580	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.31769	1.6;1.6;1.6;1.48	5.79	5.79	0.91817	.	0.000000	0.32987	U	0.005416	T	0.49745	0.1575	L	0.53249	1.67	0.80722	D	1	D;D;P	0.76494	0.999;0.992;0.669	P;P;B	0.59595	0.86;0.462;0.053	T	0.35051	-0.9804	10	0.48119	T	0.1	-12.5609	20.031	0.97536	0.0:0.0:1.0:0.0	.	787;787;787	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Q	787	ENSP00000446132:R787Q;ENSP00000381007:R787Q;ENSP00000228327:R787Q;ENSP00000266692:R787Q	ENSP00000228327:R787Q	R	+	2	0	NAV3	76968902	0.995000	0.38212	0.997000	0.53966	0.293000	0.27360	5.149000	0.64863	2.735000	0.93741	0.655000	0.94253	CGA	NAV3	-	NULL		0.542	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444771	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	0.991	A
NINL	22981	genome.wustl.edu	37	20	25477429	25477429	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr20:25477429C>T	ENST00000278886.6	-	10	1253	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NINL_ENST00000422516.1_Missense_Mutation_p.E394K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	394					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCCAGCTGCTCCACCTGCCCT	0.617																																																	0													85.0	73.0	77.0					20																	25477429		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1180G>A	20.37:g.25477429C>T	ENSP00000278886:p.Glu394Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E394K	ENST00000278886.6	37	c.1180	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998397	0.74818	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35973	1.51;1.28	5.03	4.09	0.47781	.	0.135829	0.47852	N	0.000210	T	0.53899	0.1825	M	0.62723	1.935	0.36984	D	0.89442	D;P	0.71674	0.998;0.921	D;B	0.68353	0.957;0.352	T	0.63418	-0.6642	10	0.59425	D	0.04	-24.4037	12.2193	0.54425	0.0:0.9167:0.0:0.0833	.	394;394	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	394	ENSP00000278886:E394K;ENSP00000410431:E394K	ENSP00000278886:E394K	E	-	1	0	NINL	25425429	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	3.047000	0.49854	1.336000	0.45506	0.650000	0.86243	GAG	NINL	-	NULL		0.617	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25477429	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP205	23165	genome.wustl.edu	37	7	135276246	135276246	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:135276246A>G	ENST00000285968.6	+	11	1548	c.1522A>G	c.(1522-1524)Act>Gct	p.T508A	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	508					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTGCCTCCAACTATTTATAT	0.398																																																	0													129.0	122.0	125.0					7																	135276246		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1522A>G	7.37:g.135276246A>G	ENSP00000285968:p.Thr508Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_DUF3414	p.T508A	ENST00000285968.6	37	c.1522	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512469	0.64522	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.71036	2.16	0.80722	D	1	P	0.40731	0.728	B	0.42771	0.397	T	0.28964	-1.0027	10	0.02654	T	1	-12.5483	16.4484	0.83959	1.0:0.0:0.0:0.0	.	508	Q92621	NU205_HUMAN	A	508	ENSP00000285968:T508A	ENSP00000285968:T508A	T	+	1	0	NUP205	134926786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	2.285000	0.76669	0.533000	0.62120	ACT	NUP205	-	pfam_DUF3414		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	A			135276246	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	missense	SNP	1.000	G
OGN	4969	genome.wustl.edu	37	9	95152240	95152240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:95152240C>A	ENST00000262551.4	-	5	946	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	OGN_ENST00000468743.1_5'UTR|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Nonsense_Mutation_p.E176*	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTTGATTTTCAGCAAGTGAA	0.323																																																	0													115.0	117.0	117.0					9																	95152240		2202	4299	6501	SO:0001587	stop_gained	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.526G>T	9.37:g.95152240C>A	ENSP00000262551:p.Glu176*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FIB0|Q9UF90|Q9UNK5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E176*	ENST00000262551.4	37	c.526	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256115	0.80246	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	.	.	.	5.27	5.27	0.74061	.	0.046986	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.263	0.93975	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;234	.	ENSP00000262551:E176X	E	-	1	0	OGN	94192061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.643000	0.89663	0.655000	0.94253	GAA	OGN	-	smart_Leu-rich_rpt_typical-subtyp		0.323	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	C	NM_024416		95152240	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PCDHA7	56141	genome.wustl.edu	37	5	140215713	140215713	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:140215713C>T	ENST00000525929.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P582L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	582	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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTTGTGCCGCGGTCTGTG	0.652																																					NSCLC(160;258 2013 5070 22440 28951)												0													100.0	100.0	100.0					5																	140215713		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1745C>T	5.37:g.140215713C>T	ENSP00000436426:p.Pro582Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P582L	ENST00000525929.1	37	c.1745	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	5.420	0.262706	0.10294	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.39229	1.09;1.09	3.67	3.67	0.42095	Cadherin (2);Cadherin-like (1);	0.681849	0.11130	U	0.596499	T	0.40040	0.1101	L	0.53561	1.675	0.09310	N	1	B;B	0.22080	0.064;0.016	B;B	0.28849	0.095;0.005	T	0.34428	-0.9829	10	0.59425	D	0.04	.	7.6065	0.28105	0.1654:0.743:0.0:0.0916	.	582;582	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	582	ENSP00000436426:P582L;ENSP00000367365:P582L	ENSP00000367365:P582L	P	+	2	0	PCDHA7	140195897	0.003000	0.15002	0.003000	0.11579	0.018000	0.09664	2.003000	0.40844	2.028000	0.59812	0.462000	0.41574	CCG	PCDHA7	-	superfamily_Cadherin-like,pfscan_Cadherin		0.652	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	C	NM_018910		140215713	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.011	T
PCDHGB1	56104	genome.wustl.edu	37	5	140730998	140730998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:140730998G>T	ENST00000523390.1	+	1	1171	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAAATTAGAATCCACCTC	0.463																																																	0													56.0	56.0	56.0					5																	140730998		1916	4134	6050	SO:0001587	stop_gained	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1171G>T	5.37:g.140730998G>T	ENSP00000429273:p.Glu391*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E391*	ENST00000523390.1	37	c.1171	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	25.5	4.648894	0.87958	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.49	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.9108	0.79473	0.0:0.1405:0.8595:0.0	.	.	.	.	X	391	.	ENSP00000429273:E391X	E	+	1	0	PCDHGB1	140711182	0.000000	0.05858	0.790000	0.31976	0.780000	0.44128	-0.430000	0.06973	1.413000	0.46997	0.563000	0.77884	GAA	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140730998	+1	no_errors	ENST00000523390	ensembl	human	known	70_37	nonsense	SNP	0.049	T
PDXDC2P	283970	genome.wustl.edu	37	16	70068259	70068259	+	RNA	SNP	C	C	A	rs576028554		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr16:70068259C>A	ENST00000531894.1	-	0	565					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CACCCATTTTCATATCTGTTA	0.358																																																	0																																												283970					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70068259C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z5	RNA	SNP	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-		0.358	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1	C			70068259	-1	no_errors	ENST00000529089	ensembl	human	known	70_37	rna	SNP	1.000	A
PEPD	5184	genome.wustl.edu	37	19	33878885	33878885	+	Missense_Mutation	SNP	C	C	T	rs559002568		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:33878885C>T	ENST00000244137.7	-	14	1288	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Missense_Mutation_p.D355N|PEPD_ENST00000397032.4_Missense_Mutation_p.D378N	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	419					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AGGAGGTGGTCGATGAAGTAG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		16775	0.0		0.0	False		,,,				2504	0.001																0													11.0	16.0	15.0					19																	33878885		1999	4147	6146	SO:0001583	missense	5184			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1255G>A	19.37:g.33878885C>T	ENSP00000244137:p.Asp419Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.D419N	ENST00000244137.7	37	c.1255	CCDS42544.1	19	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547623	0.45383	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.79247	-1.25;-1.25;-1.25	5.46	5.46	0.80206	Peptidase M24, structural domain (3);	0.218309	0.53938	D	0.000043	T	0.71945	0.3400	L	0.56280	1.765	0.80722	D	1	B;B;B;B	0.17852	0.009;0.024;0.004;0.004	B;B;B;B	0.24269	0.014;0.052;0.009;0.009	T	0.66905	-0.5805	10	0.34782	T	0.22	-56.3086	9.7174	0.40283	0.0:0.7789:0.1433:0.0778	.	355;378;419;419	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	N	419;378;355	ENSP00000244137:D419N;ENSP00000380226:D378N;ENSP00000391890:D355N	ENSP00000244137:D419N	D	-	1	0	PEPD	38570725	0.941000	0.31946	1.000000	0.80357	0.973000	0.67179	1.639000	0.37176	2.561000	0.86390	0.491000	0.48974	GAC	PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.692	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	C	NM_000285		33878885	-1	no_errors	ENST00000244137	ensembl	human	known	70_37	missense	SNP	0.997	T
PIGO	84720	genome.wustl.edu	37	9	35094192	35094192	+	Intron	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:35094192G>A	ENST00000378617.3	-	3	1050				PIGO_ENST00000341666.3_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTAGAACTAAGTGCTCTGGCC	0.517																																																	0													102.0	86.0	91.0					9																	35094192		2203	4300	6503	SO:0001627	intron_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.655+20C>T	9.37:g.35094192G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	RNA	SNP	-	NULL	ENST00000378617.3	37	NULL	CCDS6575.1	9																																																																																			PIGO	-	-		0.517	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	G	NM_032634		35094192	-1	no_errors	ENST00000465745	ensembl	human	known	70_37	rna	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; 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). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	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	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		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.G1007R(8)		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)	AATGATGCTTGGCTCTGGAAT	0.378		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"""	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)											114.0	103.0	106.0					3																	178951964		1886	4108	5994	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.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg	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.G1007R	ENST00000263967.3	37	c.3019	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178951964	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCD3	113026	genome.wustl.edu	37	17	43196380	43196380	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:43196380C>T	ENST00000322765.5	-	5	828	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	239	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TCAGCCCCCTCTAGACGGTCG	0.622																																																	0													13.0	15.0	15.0					17																	43196380		1956	4138	6094	SO:0001583	missense	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.715G>A	17.37:g.43196380C>T	ENSP00000313731:p.Glu239Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E239K	ENST00000322765.5	37	c.715		17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209367	0.79240	.	.	ENSG00000161714	ENST00000322765	D	0.82081	-1.57	3.91	3.91	0.45181	EF-hand-like domain (1);	0.055575	0.64402	D	0.000001	D	0.89853	0.6835	.	.	.	0.50171	D	0.999856	D	0.76494	0.999	D	0.80764	0.994	D	0.89834	0.3998	9	0.42905	T	0.14	.	15.218	0.73285	0.0:1.0:0.0:0.0	.	239	Q8N3E9	PLCD3_HUMAN	K	239	ENSP00000313731:E239K	ENSP00000313731:E239K	E	-	1	0	PLCD3	40551906	1.000000	0.71417	0.586000	0.28679	0.400000	0.30750	7.520000	0.81821	2.180000	0.69256	0.462000	0.41574	GAG	PLCD3	-	NULL		0.622	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		C	NM_133373		43196380	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	missense	SNP	1.000	T
PLP1	5354	genome.wustl.edu	37	X	103041064	103041064	+	Intron	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:103041064C>T	ENST00000303958.2	+	3	337				PLP1_ENST00000418604.1_Intron|PLP1_ENST00000361621.2_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1						astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCTGTTCCTTCACCCACCTTT	0.537																																																	0																																										SO:0001627	intron_variant	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.192-330C>T	X.37:g.103041064C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P04400|P06905|Q502Y1|Q6FHZ6	RNA	SNP	-	NULL	ENST00000303958.2	37	NULL	CCDS14513.1	X																																																																																			PLP1	-	-		0.537	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	C			103041064	+1	no_errors	ENST00000461231	ensembl	human	known	70_37	rna	SNP	0.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79319881	79319881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:79319881G>A	ENST00000376718.3	-	8	7432	c.7309C>T	c.(7309-7311)Cga>Tga	p.R2437*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.R2078*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2437					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						TCACTTCTTCGATCAGGAAGT	0.517											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	47.0	49.0					9																	79319881		1568	3582	5150	SO:0001587	stop_gained	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.7309C>T	9.37:g.79319881G>A	ENSP00000365908:p.Arg2437*	Somatic	1190	WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R2078*	ENST00000376718.3	37	c.6232	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.139701|7.139701	0.98088|0.98088	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	4.4|4.4	-8.47|-8.47	0.00939|0.00939	.|.	2.089460|.	0.01724|.	N|.	0.028442|.	.|T	.|0.28962	.|0.0719	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36504	.|-0.9745	.|4	0.02654|.	T|.	1|.	7.2888|7.2888	11.3128|11.3128	0.49375|0.49375	0.0:0.5484:0.1407:0.3109|0.0:0.5484:0.1407:0.3109	.|.	.|.	.|.	.|.	X|L	2437;2078;2436|1758	.|.	ENSP00000365908:R2437X|.	R|S	-|-	1|2	2|0	PRUNE2|PRUNE2	78509701|78509701	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-1.083000|-1.083000	0.03397|0.03397	-1.302000|-1.302000	0.02335|0.02335	-0.703000|-0.703000	0.03666|0.03666	CGA|TCG	PRUNE2	-	NULL		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	G	NM_138818		79319881	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	nonsense	SNP	0.000	A
PTPRF	5792	genome.wustl.edu	37	1	44088825	44088825	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:44088825C>G	ENST00000359947.4	+	0	7215				PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_3'UTR|PTPRF_ENST00000372414.3_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGGCCTTTCAGGTCCAGGC	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.*1151C>G	1.37:g.44088825C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	RNA	SNP	-	NULL	ENST00000359947.4	37	NULL	CCDS489.2	1																																																																																			PTPRF	-	-		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	C			44088825	+1	no_errors	ENST00000496447	ensembl	human	known	70_37	rna	SNP	1.000	G
PTPRQ	374462	genome.wustl.edu	37	12	81064201	81064201	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr12:81064201C>G	ENST00000266688.5	+	47	6520	c.6520C>G	c.(6520-6522)Cta>Gta	p.L2174V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	2211	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CAGCGCCCCTCTAATTCACTT	0.483																																																	0													123.0	112.0	115.0					12																	81064201		692	1591	2283	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.6520C>G	12.37:g.81064201C>G	ENSP00000266688:p.Leu2174Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L2174V	ENST00000266688.5	37	c.6520		12	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426867	0.25726	.	.	ENSG00000139304	ENST00000266688	T	0.13196	2.61	5.7	1.26	0.21427	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.31257	N	0.007965	T	0.10895	0.0266	.	.	.	0.35239	D	0.777608	P	0.41710	0.76	B	0.41440	0.357	T	0.18650	-1.0330	9	0.51188	T	0.08	.	4.0968	0.09995	0.1791:0.3065:0.0:0.5144	.	2211	Q9UMZ3	PTPRQ_HUMAN	V	2174	ENSP00000266688:L2174V	ENSP00000266688:L2174V	L	+	1	2	PTPRQ	79588332	0.041000	0.20044	0.356000	0.25785	0.345000	0.29048	0.071000	0.14594	0.334000	0.23590	0.563000	0.77884	CTA	PTPRQ	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.483	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		C	NM_001145026		81064201	+1	no_errors	ENST00000266688	ensembl	human	known	70_37	missense	SNP	0.612	G
RALGAPA2	57186	genome.wustl.edu	37	20	20596757	20596757	+	Missense_Mutation	SNP	C	C	T	rs190633497		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr20:20596757C>T	ENST00000202677.7	-	13	1625	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	540					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTACAAGCATCAACTTGTTCT	0.313																																																	0													57.0	52.0	54.0					20																	20596757		1844	4081	5925	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1618G>A	20.37:g.20596757C>T	ENSP00000202677:p.Asp540Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D540N	ENST00000202677.7	37	c.1618	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.365235	0.95877	.	.	ENSG00000188559	ENST00000202677	T	0.74737	-0.87	5.98	5.98	0.97165	.	0.043979	0.85682	D	0.000000	D	0.85243	0.5652	M	0.81802	2.56	0.50813	D	0.999899	D	0.56287	0.975	P	0.55455	0.776	D	0.86058	0.1530	10	0.72032	D	0.01	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	540	Q2PPJ7	RGPA2_HUMAN	N	540	ENSP00000202677:D540N	ENSP00000202677:D540N	D	-	1	0	RALGAPA2	20544757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.211000	0.77933	2.838000	0.97847	0.655000	0.94253	GAT	RALGAPA2	-	NULL		0.313	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20596757	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T
RFWD2	64326	genome.wustl.edu	37	1	175996812	175996812	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:175996812G>C	ENST00000367669.3	-	15	2139	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C	RFWD2_ENST00000308769.8_Missense_Mutation_p.S518C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	542					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGATTGGTAGACCACAGCTT	0.408																																					Ovarian(134;1413 1765 5706 35534 51541)												0													76.0	65.0	69.0					1																	175996812		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1625C>G	1.37:g.175996812G>C	ENSP00000356641:p.Ser542Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S542C	ENST00000367669.3	37	c.1625	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497032	0.64186	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.71934	-0.61;-0.61;-0.61	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;0.999;0.999	D;D;D;D;D	0.81914	0.993;0.979;0.98;0.995;0.993	T	0.77763	-0.2466	10	0.22109	T	0.4	-13.6775	19.4868	0.95032	0.0:0.0:1.0:0.0	.	317;302;518;542;542	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	C	317;542;377;518	ENSP00000356641:S542C;ENSP00000356638:S377C;ENSP00000310943:S518C	ENSP00000310943:S518C	S	-	2	0	RFWD2	174263435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.269000	0.95684	2.693000	0.91896	0.650000	0.86243	TCT	RFWD2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.408	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	G	NM_022457		175996812	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	missense	SNP	1.000	C
RGS7BP	401190	genome.wustl.edu	37	5	63802466	63802466	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:63802466G>A	ENST00000334025.2	+	1	341	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	5					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GTTCTGCACCGAATGGGCGCA	0.692																																																	0													18.0	24.0	22.0					5																	63802466		2202	4299	6501	SO:0001819	synonymous_variant	401190			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.15G>A	5.37:g.63802466G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3X1	Silent	SNP	NULL	p.P5	ENST00000334025.2	37	c.15	CCDS34170.1	5																																																																																			RGS7BP	-	NULL		0.692	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	G	NM_001029875		63802466	+1	no_errors	ENST00000334025	ensembl	human	known	70_37	silent	SNP	1.000	A
RIMS1	22999	genome.wustl.edu	37	6	72984127	72984127	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr6:72984127G>A	ENST00000521978.1	+	23	3474	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Silent_p.E1094E|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000491071.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1158					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGTCTCCGGAGAATGACAGGT	0.493																																																	0													62.0	59.0	60.0					6																	72984127		1910	4125	6035	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3474G>A	6.37:g.72984127G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	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.E1158	ENST00000521978.1	37	c.3474	CCDS47449.1	6																																																																																			RIMS1	-	NULL		0.493	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72984127	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A
CENPBD1P1	65996	genome.wustl.edu	37	19	59110367	59110367	+	RNA	SNP	C	C	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:59110367C>A	ENST00000596427.1	-	0	256				AC016629.3_ENST00000596029.1_RNA																							TCCTGCTCCTCCTAAAGCCGA	0.443																																																	0																																												100271626																															19.37:g.59110367C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596427.1	37	NULL		19																																																																																			RPL23AP79	-	-		0.443	AC016629.3-001	KNOWN	basic	antisense	RPL23AP79	HGNC	antisense	OTTHUMT00000466990.1	C			59110367	+1	no_errors	ENST00000473164	ensembl	human	known	70_37	rna	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34113779	34113779	+	Silent	SNP	C	C	T	rs371629185		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:34113779C>T	ENST00000389232.4	+	80	11041	c.10971C>T	c.(10969-10971)aaC>aaT	p.N3657N	RYR3_ENST00000415757.3_Silent_p.N3652N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3657					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTCTGAACGGAGGCAATG	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18027	0.0		0.0	False		,,,				2504	0.0																0								C		0,4202		0,0,2101	92.0	96.0	94.0		10971	-1.7	1.0	15		94	2,8464		0,2,4231	no	coding-synonymous	RYR3	NM_001036.3		0,2,6332	TT,TC,CC		0.0236,0.0,0.0158		3657/4871	34113779	2,12666	2101	4233	6334	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10971C>T	15.37:g.34113779C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.N3657	ENST00000389232.4	37	c.10971	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34113779	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.995	T
SDHA	6389	genome.wustl.edu	37	5	226026	226026	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:226026G>C	ENST00000264932.6	+	5	600	c.485G>C	c.(484-486)aGa>aCa	p.R162T	SDHA_ENST00000510361.1_Missense_Mutation_p.R114T|SDHA_ENST00000504309.1_Missense_Mutation_p.R162T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	162					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTTTAGCAGAACTGAAGAT	0.453									Familial Paragangliomas																																								0													95.0	96.0	96.0					5																	226026		2203	4297	6500	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.485G>C	5.37:g.226026G>C	ENSP00000264932:p.Arg162Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.R162T	ENST00000264932.6	37	c.485	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	-	17.75	3.466339	0.63625	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.67345	-0.26;-0.26;-0.26	5.15	5.15	0.70609	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.84543	0.5495	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;1.0;1.0;1.0;1.0	D	0.87498	0.2431	10	0.87932	D	0	.	16.5341	0.84368	0.0:0.0:1.0:0.0	.	114;162;162;162;168	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	162;162;114	ENSP00000264932:R162T;ENSP00000426514:R162T;ENSP00000427703:R114T	ENSP00000264932:R162T	R	+	2	0	SDHA	279026	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	9.380000	0.97202	2.560000	0.86352	0.644000	0.83932	AGA	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.453	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		226026	+1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	C
SETX	23064	genome.wustl.edu	37	9	135204702	135204702	+	Silent	SNP	C	C	T	rs370328795		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr9:135204702C>T	ENST00000224140.5	-	10	2465	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	SETX_ENST00000372169.2_Silent_p.S761S|SETX_ENST00000393220.1_Silent_p.S761S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	761					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCTTCATTCGATGTGGACA	0.368																																																	0								T		1,4405		0,1,2202	118.0	114.0	116.0		2283	1.9	0.0	9		116	0,8600		0,0,4300	no	coding-synonymous	SETX	NM_015046.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		761/2678	135204702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2283G>A	9.37:g.135204702C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.S761	ENST00000224140.5	37	c.2283	CCDS6947.1	9																																																																																			SETX	-	NULL		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	C	NM_015046		135204702	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	0.031	T
SLC17A6	57084	genome.wustl.edu	37	11	22363242	22363242	+	Silent	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:22363242C>T	ENST00000263160.3	+	2	692	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	85					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCATCTCCTTCGGTATCCGCT	0.637																																																	0													72.0	59.0	64.0					11																	22363242		2203	4300	6503	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.255C>T	11.37:g.22363242C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKS2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F85	ENST00000263160.3	37	c.255	CCDS7856.1	11																																																																																			SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.637	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	C	NM_020346		22363242	+1	no_errors	ENST00000263160	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC25A3P1	163742	genome.wustl.edu	37	1	53904244	53904244	+	RNA	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr1:53904244G>A	ENST00000566100.1	-	0	994									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		GCCCAGGGCCGCGATGCCCTT	0.657																																																	0																																												163742					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904244G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-		0.657	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	G	NM_178501		53904244	-1	no_errors	ENST00000566100	ensembl	human	known	70_37	rna	SNP	0.762	A
SNORD3B-1	26851	genome.wustl.edu	37	17	18967104	18967104	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:18967104C>G	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		CGAGAAAACCCAAGAGCCGTC	0.542																																																	0																																												780852			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967104C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-2	-	-		0.542	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	Clone_based_vega_gene	lincRNA		C	NR_003271		18967104	-1	no_errors	ENST00000571722	ensembl	human	known	70_37	rna	SNP	0.000	G
SPATA4	132851	genome.wustl.edu	37	4	177114225	177114225	+	Silent	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr4:177114225G>A	ENST00000280191.2	-	3	459	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	117						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTCTTGCCAGGAACTTTAATA	0.279																																																	0													28.0	30.0	30.0					4																	177114225		2200	4279	6479	SO:0001819	synonymous_variant	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.351C>T	4.37:g.177114225G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCS5|Q8WW15	Silent	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.F117	ENST00000280191.2	37	c.351	CCDS3826.1	4																																																																																			SPATA4	-	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	G	NM_144644		177114225	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	silent	SNP	1.000	A
STS	412	genome.wustl.edu	37	X	7252034	7252034	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:7252034G>T	ENST00000217961.4	+	9	1484	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	422					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CAGGATCATTGATGGACGTGA	0.483									Ichthyosis																																								0													121.0	91.0	101.0					X																	7252034		2203	4299	6502	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1264G>T	X.37:g.7252034G>T	ENSP00000217961:p.Asp422Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA47	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D422Y	ENST00000217961.4	37	c.1264	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577993	0.65878	.	.	ENSG00000101846	ENST00000217961	D	0.95447	-3.71	3.95	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.99815	4.805	0.50632	D	0.999887	D	0.89917	1.0	D	0.91635	0.999	D	0.98427	1.0580	10	0.87932	D	0	.	12.8957	0.58098	0.0:0.0:1.0:0.0	.	422	P08842	STS_HUMAN	Y	422	ENSP00000217961:D422Y	ENSP00000217961:D422Y	D	+	1	0	STS	7262034	1.000000	0.71417	0.012000	0.15200	0.111000	0.19643	7.637000	0.83313	1.586000	0.49944	0.513000	0.50165	GAT	STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.483	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	G	NM_000351		7252034	+1	no_errors	ENST00000217961	ensembl	human	known	70_37	missense	SNP	0.998	T
TARSL2	123283	genome.wustl.edu	37	15	102211717	102211717	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:102211717G>T	ENST00000335968.3	-	15	2155	c.1939C>A	c.(1939-1941)Cct>Act	p.P647T		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	647					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTAATAGGCAGTTGGAAG	0.303																																																	0													129.0	126.0	127.0					15																	102211717		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1939C>A	15.37:g.102211717G>T	ENSP00000338093:p.Pro647Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.P647T	ENST00000335968.3	37	c.1939	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188501	0.78789	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.25	5.25	0.73442	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	H	0.96889	3.9	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.66847	0.87;0.947	D	0.91610	0.5302	9	0.87932	D	0	-12.8827	16.3435	0.83110	0.0:0.0:1.0:0.0	.	647;552	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	T	647;552;647	.	ENSP00000329291:P552T	P	-	1	0	TARSL2	100029240	1.000000	0.71417	0.823000	0.32752	0.991000	0.79684	7.504000	0.81646	2.460000	0.83146	0.591000	0.81541	CCT	TARSL2	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa		0.303	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102211717	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM87B	84910	genome.wustl.edu	37	2	112873753	112873753	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr2:112873753G>A	ENST00000283206.4	+	0	2070					NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AGTTAAGCCTGAAGGACTATC	0.333																																																	0													54.0	56.0	55.0					2																	112873753		2201	4296	6497	SO:0001624	3_prime_UTR_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.*33G>A	2.37:g.112873753G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2M9|Q1RLN2|Q53R54	RNA	SNP	-	NULL	ENST00000283206.4	37	NULL	CCDS33275.1	2																																																																																			TMEM87B	-	-		0.333	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	G	NM_032824		112873753	+1	no_errors	ENST00000471632	ensembl	human	known	70_37	rna	SNP	0.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43738643	43738643	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr15:43738643C>T	ENST00000263801.3	-	14	3219	c.2967G>A	c.(2965-2967)atG>atA	p.M989I	TP53BP1_ENST00000382039.3_Missense_Mutation_p.M994I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.M994I|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M994I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	989					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAACCAGTTTCATTCTTAGAC	0.443								Other conserved DNA damage response genes																																									0													102.0	100.0	101.0					15																	43738643		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2967G>A	15.37:g.43738643C>T	ENSP00000263801:p.Met989Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M994I	ENST00000263801.3	37	c.2982	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623273	0.87460	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.23950	2.34;2.33;2.15;2.35;1.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.76002	2.32	0.53688	D	0.999977	P;P;D;D	0.53745	0.949;0.936;0.962;0.962	D;P;D;D	0.66716	0.914;0.885;0.946;0.946	T	0.41627	-0.9498	10	0.34782	T	0.22	-14.3082	18.2875	0.90119	0.0:1.0:0.0:0.0	.	994;989;994;994	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	989;994;994;994;954	ENSP00000263801:M989I;ENSP00000371475:M994I;ENSP00000371470:M994I;ENSP00000393497:M994I;ENSP00000388028:M954I	ENSP00000263801:M989I	M	-	3	0	TP53BP1	41525935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.015000	0.64035	2.627000	0.88993	0.655000	0.94253	ATG	TP53BP1	-	NULL		0.443	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43738643	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98580932	98580932	+	Missense_Mutation	SNP	G	G	A	rs537483764		TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr7:98580932G>A	ENST00000359863.4	+	59	9060	c.8851G>A	c.(8851-8853)Gca>Aca	p.A2951T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A2933T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A2933T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2951	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAATCAACGCAGGCTTACA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19255	0.0		0.0	False		,,,				2504	0.0																0													134.0	100.0	112.0					7																	98580932		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8851G>A	7.37:g.98580932G>A	ENSP00000352925:p.Ala2951Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A2951T	ENST00000359863.4	37	c.8851	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103462	0.37145	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68903	-0.36;-0.36	5.48	5.48	0.80851	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	N	0.14661	0.345	0.80722	D	1	P;P;P	0.43938	0.822;0.546;0.708	B;B;B	0.30105	0.097;0.063;0.111	T	0.48854	-0.8998	10	0.12103	T	0.63	.	19.3398	0.94336	0.0:0.0:1.0:0.0	.	2933;2672;2951	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	2951;2933;2932	ENSP00000352925:A2951T;ENSP00000347733:A2933T	ENSP00000347733:A2933T	A	+	1	0	TRRAP	98418868	1.000000	0.71417	0.263000	0.24496	0.958000	0.62258	8.006000	0.88564	2.571000	0.86741	0.650000	0.86243	GCA	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98580932	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	A
TTC3	7267	genome.wustl.edu	37	21	38523150	38523150	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr21:38523150C>T	ENST00000399017.2	+	25	4989	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P748S|TTC3_ENST00000540756.1_Missense_Mutation_p.P438S|TTC3_ENST00000354749.2_Missense_Mutation_p.P748S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	748					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAAAAGGTTCCTCCAAGACC	0.303																																					Ovarian(38;194 1649 35661)												0													59.0	63.0	61.0					21																	38523150		2202	4297	6499	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2242C>T	21.37:g.38523150C>T	ENSP00000381981:p.Pro748Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P748S	ENST00000399017.2	37	c.2242	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487137	0.63962	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.46451	2.67;0.87;2.67;2.98;0.87;2.98;2.98	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000013	T	0.61324	0.2338	M	0.64997	1.995	0.38043	D	0.93552	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66862	-0.5816	10	0.72032	D	0.01	-12.0992	14.2195	0.65818	0.1501:0.8499:0.0:0.0	.	438;748	B4DSZ9;P53804	.;TTC3_HUMAN	S	748;748;730;748;438;748;748	ENSP00000403943:P748S;ENSP00000408456:P748S;ENSP00000391891:P730S;ENSP00000347889:P748S;ENSP00000442875:P438S;ENSP00000381981:P748S;ENSP00000346791:P748S	ENSP00000346791:P748S	P	+	1	0	TTC3	37445020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.528000	0.53524	2.541000	0.85698	0.561000	0.74099	CCT	TTC3	-	NULL		0.303	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	C			38523150	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	1.000	T
USH1C	10083	genome.wustl.edu	37	11	17517199	17517199	+	Intron	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:17517199C>T	ENST00000318024.4	-	20	1755				USH1C_ENST00000005226.7_Missense_Mutation_p.E858K|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.E858*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGGGGCTTTCAGCTACGGAG	0.577																																																	1	Substitution - Nonsense(1)	lung(1)											87.0	97.0	94.0					11																	17517199		2200	4293	6493	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1646+1105G>A	11.37:g.17517199C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E858K	ENST00000318024.4	37	c.2572	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150318	0.37923	.	.	ENSG00000006611	ENST00000005226	T	0.23552	1.9	5.47	0.791	0.18619	.	0.390291	0.22299	N	0.061883	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.17868	-1.0355	9	0.62326	D	0.03	.	6.4491	0.21894	0.134:0.615:0.0:0.251	.	858	Q7RTU8	.	K	858	ENSP00000005226:E858K	ENSP00000005226:E858K	E	-	1	0	USH1C	17473775	0.058000	0.20735	0.882000	0.34594	0.725000	0.41563	-0.146000	0.10250	0.252000	0.21531	0.650000	0.86243	GAA	USH1C	-	NULL		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	C	NM_005709		17517199	-1	no_errors	ENST00000005226	ensembl	human	known	70_37	missense	SNP	0.096	T
USP6	9098	genome.wustl.edu	37	17	5045313	5045313	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr17:5045313G>T	ENST00000574788.1	+	24	3819	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	USP6_ENST00000332776.4_Missense_Mutation_p.G530V|USP6_ENST00000304328.5_Missense_Mutation_p.G213V|USP6_ENST00000250066.6_Missense_Mutation_p.G530V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	530					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGAAAAGGGAGCCACAGGT	0.413			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													139.0	135.0	136.0					17																	5045313		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1589G>T	17.37:g.5045313G>T	ENSP00000460380:p.Gly530Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.G530V	ENST00000574788.1	37	c.1589	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604904	0.46423	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.34472	1.36;3.9;3.9	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.93594	3.435	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.73708	0.893;0.981	T	0.72836	-0.4172	10	0.72032	D	0.01	.	10.4264	0.44380	0.0:0.0:1.0:0.0	.	213;530	P35125-2;P35125	.;UBP6_HUMAN	V	530;530;213	ENSP00000328010:G530V;ENSP00000250066:G530V;ENSP00000305473:G213V	ENSP00000250066:G530V	G	+	2	0	USP6	4986037	1.000000	0.71417	0.998000	0.56505	0.397000	0.30659	9.511000	0.98006	1.318000	0.45170	0.194000	0.17425	GGA	USP6	-	pfam_Peptidase_C19		0.413	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5045313	+1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	T
VSIG2	23584	genome.wustl.edu	37	11	124618303	124618303	+	Silent	SNP	A	A	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr11:124618303A>G	ENST00000326621.5	-	6	934	c.834T>C	c.(832-834)taT>taC	p.Y278Y	VSIG2_ENST00000403470.1_Silent_p.Y278Y|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	278						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CACTACCCCCATATGTCTCCT	0.597																																																	0													120.0	106.0	111.0					11																	124618303		2201	4299	6500	SO:0001819	synonymous_variant	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.834T>C	11.37:g.124618303A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95791|Q9NX42	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y278	ENST00000326621.5	37	c.834	CCDS8452.1	11																																																																																			VSIG2	-	NULL		0.597	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG2	HGNC	protein_coding	OTTHUMT00000317785.1	A	NM_014312		124618303	-1	no_errors	ENST00000326621	ensembl	human	known	70_37	silent	SNP	0.982	G
WDR49	151790	genome.wustl.edu	37	3	167217980	167217980	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr3:167217980C>G	ENST00000308378.3	-	14	2241	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E471Q|WDR49_ENST00000453925.2_Missense_Mutation_p.E611Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	646										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGGGACGCTCTTCCTCTGGT	0.423																																																	0													138.0	155.0	149.0					3																	167217980		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1936G>C	3.37:g.167217980C>G	ENSP00000311343:p.Glu646Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E646Q	ENST00000308378.3	37	c.1936	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.644|1.644	-0.515769|-0.515769	0.04200|0.04200	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.93;1.0|.	5.06|5.06	3.23|3.23	0.37069|0.37069	.|.	0.533085|.	0.16859|.	N|.	0.196617|.	T|T	0.35856|0.35856	0.0946|0.0946	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.001|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.21540|.	T|.	0.41|.	.|.	4.6881|4.6881	0.12767|0.12767	0.0:0.6312:0.198:0.1708|0.0:0.6312:0.198:0.1708	.|.	611;646|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	Q|N	646;471;611|622	ENSP00000311343:E646Q;ENSP00000420508:E471Q;ENSP00000410863:E611Q|.	ENSP00000311343:E646Q|.	E|K	-|-	1|3	0|2	WDR49|WDR49	168700674|168700674	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.006000|0.006000	0.05464|0.05464	-0.936000|-0.936000	0.03946|0.03946	1.096000|1.096000	0.41439|0.41439	0.411000|0.411000	0.27672|0.27672	GAG|AAG	WDR49	-	NULL		0.423	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	C	NM_178824		167217980	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	0.006	G
ZFX	7543	genome.wustl.edu	37	X	24225503	24225503	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chrX:24225503C>T	ENST00000379177.1	+	7	1134	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ZFX_ENST00000304543.5_Missense_Mutation_p.S236L|ZFX_ENST00000540034.1_Missense_Mutation_p.S275L|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Missense_Mutation_p.S236L|ZFX_ENST00000539115.1_Missense_Mutation_p.S7L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	236					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						GACACAGAGTCGGAAATTGAT	0.403																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													162.0	145.0	151.0					X																	24225503		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.707C>T	X.37:g.24225503C>T	ENSP00000368475:p.Ser236Leu	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.S275L	ENST00000379177.1	37	c.824	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626825	0.28978	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.15	5.15	0.70609	Transcriptional activator, Zfx / Zfy domain (1);	0.608832	0.15632	N	0.252306	T	0.35885	0.0947	L	0.29908	0.895	0.09310	N	0.999998	B;B;B	0.33512	0.415;0.355;0.106	B;B;B	0.31245	0.126;0.04;0.04	T	0.26916	-1.0089	10	0.44086	T	0.13	-26.2519	11.5869	0.50923	0.0:0.9157:0.0:0.0843	.	275;236;240	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	L	7;236;5;236;236;275;31	ENSP00000438233:S7L;ENSP00000368486:S236L;ENSP00000368475:S236L;ENSP00000304985:S236L;ENSP00000441382:S275L	ENSP00000304985:S236L	S	+	2	0	ZFX	24135424	0.989000	0.36119	0.997000	0.53966	0.779000	0.44077	4.320000	0.59203	2.282000	0.76494	0.594000	0.82650	TCG	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.403	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	C	NM_003410		24225503	+1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	0.230	T
ZNF572	137209	genome.wustl.edu	37	8	125989129	125989129	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr8:125989129G>C	ENST00000319286.5	+	3	773	c.619G>C	c.(619-621)Gag>Cag	p.E207Q		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TATTATCCATGAGAGAACTCA	0.473										HNSCC(60;0.17)																																							0													79.0	82.0	81.0					8																	125989129		2203	4300	6503	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.619G>C	8.37:g.125989129G>C	ENSP00000319305:p.Glu207Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E207Q	ENST00000319286.5	37	c.619	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764867	0.02996	.	.	ENSG00000180938	ENST00000319286	T	0.17691	2.26	5.19	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129681	0.34932	N	0.003568	T	0.04543	0.0124	N	0.02142	-0.665	0.23293	N	0.997966	B	0.30068	0.267	B	0.28385	0.089	T	0.41875	-0.9484	10	0.02654	T	1	-8.1276	7.0218	0.24918	0.2714:0.0:0.7286:0.0	.	207	Q7Z3I7	ZN572_HUMAN	Q	207	ENSP00000319305:E207Q	ENSP00000319305:E207Q	E	+	1	0	ZNF572	126058310	0.006000	0.16342	0.893000	0.35052	0.982000	0.71751	0.104000	0.15313	0.758000	0.33059	0.655000	0.94253	GAG	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	G	NM_152412		125989129	+1	no_errors	ENST00000319286	ensembl	human	known	70_37	missense	SNP	0.994	C
ZNF608	57507	genome.wustl.edu	37	5	123972613	123972614	+	3'UTR	INS	-	-	A	rs70991633	byFrequency	TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:123972613_123972614insA	ENST00000306315.5	-	0	5953_5954				ZNF608_ENST00000504926.1_3'UTR|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCattatttaaaaaaaaaaa	0.248													|||unknown(HR)	2155	0.430312	0.267	0.5375	5008	,	,		16774	0.5982		0.3569	False		,,,				2504	0.4775																0																																										SO:0001624	3_prime_UTR_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*980->T	5.37:g.123972624_123972624dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	INS	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-		0.248	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	XM_114432		123972614	-1	no_errors	ENST00000513985	ensembl	human	known	70_37	rna	INS	0.291:0.200	A
ZNF69	7620	genome.wustl.edu	37	19	12014480	12014480	+	Silent	SNP	G	G	C			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:12014480G>C	ENST00000429654.2	+	2	296	c.156G>C	c.(154-156)gtG>gtC	p.V52V	ZNF69_ENST00000340180.5_Silent_p.V38V			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ACAAGGAAGTGATGCTGGAAA	0.468																																																	0													150.0	145.0	147.0					19																	12014480		2203	4300	6503	SO:0001819	synonymous_variant	7620			X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.156G>C	19.37:g.12014480G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA7	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.V52	ENST00000429654.2	37	c.156		19																																																																																			ZNF69	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	ZNF69	HGNC	protein_coding	OTTHUMT00000344082.1	G	NM_021915		12014480	+1	no_errors	ENST00000429654	ensembl	human	known	70_37	silent	SNP	0.992	C
ZNF787	126208	genome.wustl.edu	37	19	56614301	56614301	+	Intron	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr19:56614301G>A	ENST00000270459.3	-	2	198				Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Silent_p.L96L	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		TCATCCAGCAGAAAGGAAACT	0.662																																																	0																																										SO:0001627	intron_variant	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.79+206C>T	19.37:g.56614301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00455	Silent	SNP	NULL	p.L96	ENST00000270459.3	37	c.286	CCDS42634.1	19																																																																																			ZNF787	-	NULL		0.662	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF787	HGNC	protein_coding	OTTHUMT00000457498.1	G	NM_001002836		56614301	-1	no_errors	ENST00000587279	ensembl	human	putative	70_37	silent	SNP	0.000	A
ZNF879	345462	genome.wustl.edu	37	5	178459886	178459886	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LF-01A-21D-A22X-09	TCGA-IR-A3LF-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	224b26b0-dced-4b5a-95c1-c5d4c2348b07	1a368b09-b49b-404a-bc41-aa49cdc7d8a7	g.chr5:178459886G>A	ENST00000444149.2	+	5	1125	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						TCACACAGGAGAGAAGCCCTA	0.418																																																	0													50.0	46.0	47.0					5																	178459886		692	1591	2283	SO:0001583	missense	345462			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.937G>A	5.37:g.178459886G>A	ENSP00000414887:p.Glu313Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E313K	ENST00000444149.2	37	c.937	CCDS47352.1	5	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278763	0.59758	.	.	ENSG00000234284	ENST00000444149	T	0.24350	1.86	4.36	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33962	0.0881	N	0.17764	0.52	0.80722	D	1	D	0.64830	0.994	D	0.68039	0.955	T	0.12708	-1.0537	9	0.49607	T	0.09	-17.9415	14.743	0.69469	0.0:0.0:1.0:0.0	.	313	B4DU55	ZN879_HUMAN	K	313	ENSP00000414887:E313K	ENSP00000414887:E313K	E	+	1	0	ZNF879	178392492	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	6.024000	0.70857	2.393000	0.81446	0.591000	0.81541	GAG	ZNF879	-	pfscan_Znf_C2H2		0.418	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	G	NM_001136116		178459886	+1	no_errors	ENST00000444149	ensembl	human	known	70_37	missense	SNP	1.000	A
