#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_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
RPS6KL1	83694	genome.wustl.edu	37	14	75385227	75385227	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr14:75385227C>T	ENST00000555647.1	-	5	759	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.V158I|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.V158I|RPS6KL1_ENST00000354625.2_Intron			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TTCTCGATGACCCCGACCACC	0.612																																																	0								ENSG00000198208																																			RPS6KL1	SO:0001583	missense	0			-	HGNC	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.472G>A	14.37:g.75385227C>T	ENSP00000452027:p.Val158Ile	Somatic	0	75	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V158I	ENST00000555647.1	37	c.472	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809792	0.31961	.	.	ENSG00000198208	ENST00000555647;ENST00000557413;ENST00000358328	T;T;T	0.61274	0.12;0.12;0.12	5.29	4.39	0.52855	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.307612	0.30850	N	0.008760	T	0.42675	0.1213	L	0.33668	1.02	0.49915	D	0.999839	B;B	0.16802	0.019;0.005	B;B	0.17979	0.02;0.009	T	0.25187	-1.0139	10	0.27785	T	0.31	-22.981	7.8379	0.29380	0.0:0.7424:0.0:0.2576	.	158;158	Q9Y6S9;Q9Y6S9-4	RPKL1_HUMAN;.	I	158	ENSP00000452027:V158I;ENSP00000450567:V158I;ENSP00000351086:V158I	ENSP00000351086:V158I	V	-	1	0	RPS6KL1	74454980	0.778000	0.28640	0.988000	0.46212	0.806000	0.45545	1.467000	0.35321	1.198000	0.43158	0.455000	0.32223	GTC	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	protein_coding	OTTHUMT00000413732.1	C		-		75385227	-1	no_errors	ENST00000358328	ensembl	human	known	74_37	missense	SNP	0.994	T
FAM120C	54954	genome.wustl.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133																0								ENSG00000184083																																			FAM120C	SO:0001652	inframe_insertion	0				HGNC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup	Somatic	NA	NA	NA		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RMT7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.112in_frame_insPP	ENST00000375180.2	37	c.330_329	CCDS14356.1	X																																																																																			-	NULL		0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	-	NM_017848			54209303	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	in_frame_ins	INS	0.999:0.998	GGCGGC
FAM120A	23196	genome.wustl.edu	37	9	96259883	96259884	+	Splice_Site	INS	-	-	A	rs35062269|rs554262666|rs397936267	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:96259883_96259884insA	ENST00000277165.6	+	4	1127		c.e4+2		FAM120A_ENST00000333936.5_Splice_Site|FAM120A_ENST00000375389.3_Splice_Site|FAM120A_ENST00000340893.4_Splice_Site	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATTCACAGGTAAAAAAAAAAA	0.436													|||unknown(HR)	1255	0.250599	0.4834	0.245	5008	,	,		26167	0.1835		0.1571	False		,,,				2504	0.1053																0								ENSG00000048828																																			FAM120A	SO:0001630	splice_region_variant	0				HGNC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.933+2->A	9.37:g.96259894_96259894dupA		Somatic	0	38	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e4+2	ENST00000277165.6	37	c.933+2_933+1	CCDS6706.1	9																																																																																			-	-		0.436	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	protein_coding	OTTHUMT00000053160.2	-	NM_014612		Intron	96259884	+1	no_errors	ENST00000333936	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.997	A
INPP5F	22876	genome.wustl.edu	37	10	121579042	121579042	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:121579042C>T	ENST00000369080.3	+	1	815	c.47C>T	c.(46-48)tCa>tTa	p.S16L	INPP5F_ENST00000361976.2_Intron|INPP5F_ENST00000490818.1_3'UTR	NM_001243194.1	NP_001230123.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAACAATTTTCAGAGTGCACG	0.343																																																	0								ENSG00000198825						32.0	33.0	33.0					10																	121579042		876	1990	2866	INPP5F	SO:0001583	missense	0			-	HGNC	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000369080.3:c.47C>T	10.37:g.121579042C>T	ENSP00000358076:p.Ser16Leu	Somatic	0	30	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Inositol_phosphatase	p.S16L	ENST00000369080.3	37	c.47	CCDS58098.1	10	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990919	0.18966	.	.	ENSG00000198825	ENST00000369080	T	0.46063	0.88	3.61	1.66	0.24008	.	.	.	.	.	T	0.30510	0.0767	.	.	.	0.09310	N	1	B	0.26708	0.157	B	0.25759	0.063	T	0.28586	-1.0039	8	0.87932	D	0	.	5.918	0.19065	0.2412:0.5622:0.1966:0.0	.	16	Q5W135	.	L	16	ENSP00000358076:S16L	ENSP00000358076:S16L	S	+	2	0	INPP5F	121569032	0.000000	0.05858	0.002000	0.10522	0.617000	0.37484	-0.172000	0.09868	0.467000	0.27218	0.655000	0.94253	TCA	-	NULL		0.343	INPP5F-002	KNOWN	basic|CCDS	protein_coding	INPP5F	protein_coding	OTTHUMT00000050680.1	C	NM_014937	-		121579042	+1	no_errors	ENST00000369080	ensembl	human	known	74_37	missense	SNP	0.003	T
ZNF536	9745	genome.wustl.edu	37	19	31039902	31039902	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:31039902G>T	ENST00000355537.3	+	4	3523	c.3376G>T	c.(3376-3378)Gcc>Tcc	p.A1126S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1126					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGCTCAGGGGCCTCCAGTTC	0.552																																																	0								ENSG00000198597						69.0	72.0	71.0					19																	31039902		2203	4300	6503	ZNF536	SO:0001583	missense	0			-	HGNC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3376G>T	19.37:g.31039902G>T	ENSP00000347730:p.Ala1126Ser	Somatic	0	40	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2RU18	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1126S	ENST00000355537.3	37	c.3376	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.285058	0.05605	.	.	ENSG00000198597	ENST00000355537	T	0.08102	3.13	5.47	0.163	0.14986	.	0.861501	0.10508	N	0.666571	T	0.02970	0.0088	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44574	-0.9319	10	0.29301	T	0.29	-12.5182	2.659	0.05020	0.1238:0.1248:0.3698:0.3817	.	1126;1126	A7E228;O15090	.;ZN536_HUMAN	S	1126	ENSP00000347730:A1126S	ENSP00000347730:A1126S	A	+	1	0	ZNF536	35731742	0.000000	0.05858	0.846000	0.33378	0.291000	0.27294	-0.092000	0.11129	0.636000	0.30508	-0.152000	0.13540	GCC	-	NULL		0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	G	NM_014717	-		31039902	+1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	SNP	0.109	T
ROS1	6098	genome.wustl.edu	37	6	117678005	117678005	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:117678005G>T	ENST00000368508.3	-	25	4126	c.3928C>A	c.(3928-3930)Cac>Aac	p.H1310N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1305N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1310					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGAATTCGGTGCAAGGTGTGA	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0								ENSG00000047936						187.0	161.0	170.0					6																	117678005		2203	4300	6503	ROS1	SO:0001583	missense	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3928C>A	6.37:g.117678005G>T	ENSP00000357494:p.His1310Asn	Somatic	0	69	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q15368|Q5TDB5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H1310N	ENST00000368508.3	37	c.3928	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986424	0.02180	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91011	-2.77;-2.77	5.08	4.2	0.49525	.	0.371554	0.26023	N	0.026810	T	0.68568	0.3015	N	0.19112	0.55	0.80722	D	1	B	0.26935	0.164	B	0.22601	0.04	T	0.65631	-0.6121	10	0.15952	T	0.53	.	8.369	0.32404	0.0826:0.0:0.7529:0.1645	.	1310	P08922	ROS1_HUMAN	N	1310;1305	ENSP00000357494:H1310N;ENSP00000357493:H1305N	ENSP00000357493:H1305N	H	-	1	0	ROS1	117784698	0.995000	0.38212	0.856000	0.33681	0.008000	0.06430	1.895000	0.39778	1.422000	0.47177	0.655000	0.94253	CAC	-	NULL		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117678005	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	SNP	0.975	T
PRC1	9055	genome.wustl.edu	37	15	91510426	91510426	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:91510426G>T	ENST00000361188.5	-	14	2967	c.1756C>A	c.(1756-1758)Ctt>Att	p.L586I	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.L600I|PRC1_ENST00000442656.2_Missense_Mutation_p.T519N|PRC1_ENST00000361919.3_Missense_Mutation_p.T560N					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCTTTGAAAGTTCTCGCTGT	0.453																																																	0								ENSG00000198901						113.0	109.0	110.0					15																	91510426		2198	4298	6496	PRC1	SO:0001583	missense	0			-	HGNC	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1756C>A	15.37:g.91510426G>T	ENSP00000354679:p.Leu586Ile	Somatic	0	43	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MAP65_Ase1_PRC1	p.L600I	ENST00000361188.5	37	c.1798	CCDS45352.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.928654|4.928654	0.92389|0.92389	.|.	.|.	ENSG00000198901|ENSG00000198901	ENST00000394249;ENST00000361188|ENST00000361919;ENST00000442656	T;T|T;T	0.33865|0.31247	1.39;1.57|1.5;1.5	5.5|5.5	4.58|4.58	0.56647|0.56647	.|.	0.061995|.	0.64402|.	D|.	0.000006|.	T|T	0.40015|0.40015	0.1100|0.1100	M|M	0.63428|0.63428	1.95|1.95	0.29457|0.29457	N|N	0.858024|0.858024	D;D|P;P	0.65815|0.49559	0.982;0.995|0.925;0.925	P;D|P;P	0.64321|0.48227	0.814;0.924|0.571;0.571	T|T	0.32981|0.32981	-0.9886|-0.9886	10|9	0.28530|0.35671	T|T	0.3|0.21	-8.57|-8.57	14.3402|14.3402	0.66619|0.66619	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	556;600|519;560	O43663-2;O43663|O43663-3;F8W9B5	.;PRC1_HUMAN|.;.	I|N	600;586|560;519	ENSP00000377793:L600I;ENSP00000354679:L586I|ENSP00000354618:T560N;ENSP00000409549:T519N	ENSP00000354679:L586I|ENSP00000354618:T560N	L|T	-|-	1|2	0|0	PRC1|PRC1	89311430|89311430	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	8.271000|8.271000	0.89883|0.89883	1.570000|1.570000	0.49709|0.49709	0.644000|0.644000	0.83932|0.83932	CTT|ACT	-	pfam_MAP65_Ase1_PRC1		0.453	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRC1	protein_coding	OTTHUMT00000414760.1	G	NM_003981	-		91510426	-1	no_errors	ENST00000394249	ensembl	human	known	74_37	missense	SNP	1.000	T
CCDC93	54520	genome.wustl.edu	37	2	118706947	118706947	+	Missense_Mutation	SNP	C	C	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:118706947C>A	ENST00000376300.2	-	14	1230	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y	CCDC93_ENST00000319432.5_Missense_Mutation_p.D364Y|CCDC93_ENST00000460781.1_5'Flank	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	365								p.D365N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGCTCTTTGTCCAGTTTCTCA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000125633						211.0	179.0	190.0					2																	118706947		2203	4300	6503	CCDC93	SO:0001583	missense	0			-	HGNC	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1093G>T	2.37:g.118706947C>A	ENSP00000365477:p.Asp365Tyr	Somatic	0	81	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF2037	p.D365Y	ENST00000376300.2	37	c.1093	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393317	0.83011	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19394	2.15;2.15	5.43	5.43	0.79202	.	0.159561	0.56097	D	0.000035	T	0.38692	0.1050	M	0.67953	2.075	0.48341	D	0.99963	D	0.58970	0.984	P	0.53593	0.73	T	0.10154	-1.0642	10	0.62326	D	0.03	-25.1433	17.5969	0.88014	0.0:1.0:0.0:0.0	.	365	Q567U6	CCD93_HUMAN	Y	365;364	ENSP00000365477:D365Y;ENSP00000324135:D364Y	ENSP00000324135:D364Y	D	-	1	0	CCDC93	118423417	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.249000	0.51437	2.824000	0.97209	0.655000	0.94253	GAC	-	NULL		0.443	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	protein_coding	OTTHUMT00000129615.1	C	NM_019044	-		118706947	-1	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	SNP	1.000	A
C12orf50	160419	genome.wustl.edu	37	12	88388424	88388424	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr12:88388424G>T	ENST00000298699.2	-	7	758	c.578C>A	c.(577-579)gCt>gAt	p.A193D	C12orf50_ENST00000550553.1_Missense_Mutation_p.A193D	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	193										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTCAAAAGCAGCAATGTC	0.328																																																	0								ENSG00000165805						160.0	144.0	149.0					12																	88388424		2201	4300	6501	C12orf50	SO:0001583	missense	0			-	HGNC	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.578C>A	12.37:g.88388424G>T	ENSP00000298699:p.Ala193Asp	Somatic	0	76	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q6P674	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A193D	ENST00000298699.2	37	c.578	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023266	0.75275	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.38240	1.15;1.19	4.93	4.93	0.64822	.	0.512935	0.19428	N	0.114524	T	0.53012	0.1770	M	0.73962	2.25	0.37517	D	0.917375	D;P	0.57571	0.98;0.879	P;P	0.53649	0.731;0.626	T	0.63668	-0.6585	10	0.72032	D	0.01	.	15.4227	0.75025	0.0:0.0:1.0:0.0	.	247;193	G3V208;Q8NA57	.;CL050_HUMAN	D	193;193;247	ENSP00000298699:A193D;ENSP00000448344:A193D	ENSP00000298699:A193D	A	-	2	0	C12orf50	86912555	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.119000	0.64679	2.455000	0.83008	0.460000	0.39030	GCT	-	NULL		0.328	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	protein_coding	OTTHUMT00000406328.1	G	NM_152589	-		88388424	-1	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	SNP	1.000	T
PRRC2C	23215	genome.wustl.edu	37	1	171510647	171510647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:171510647G>T	ENST00000338920.4	+	16	4273	c.4036G>T	c.(4036-4038)Gga>Tga	p.G1346*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.G1346*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.G1348*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.G1348*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1346	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGCAGAGGGGGAACATTCAG	0.498																																																	0								ENSG00000117523						30.0	28.0	29.0					1																	171510647		2203	4300	6503	PRRC2C	SO:0001587	stop_gained	0			-	HGNC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4036G>T	1.37:g.171510647G>T	ENSP00000343629:p.Gly1346*	Somatic	0	24	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BAT2_N	p.G1348*	ENST00000338920.4	37	c.4042	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	45	11.499306	0.99568	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.45	5.45	0.79879	.	0.000000	0.46145	D	0.000311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2864	0.94072	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;1347;1346;1348;1346;1103	.	ENSP00000343629:G1346X	G	+	1	0	PRRC2C	169777271	1.000000	0.71417	0.813000	0.32504	0.821000	0.46438	7.447000	0.80620	2.549000	0.85964	0.655000	0.94253	GGA	-	NULL		0.498	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	protein_coding	OTTHUMT00000314826.4	G	NM_015172	-		171510647	+1	no_errors	ENST00000392078	ensembl	human	known	74_37	nonsense	SNP	1.000	T
SEC16A	9919	genome.wustl.edu	37	9	139341406	139341406	+	Silent	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:139341406G>T	ENST00000313084.5	-	6	1039	c.777C>A	c.(775-777)tcC>tcA	p.S259S	SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000467838.1_5'Flank|SEC16A_ENST00000313050.7_Intron|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000371706.3_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2053					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCATCTGGGGATGAGAGAG	0.622																																																	0								ENSG00000148396						68.0	75.0	73.0					9																	139341406		2038	4169	6207	SEC16A	SO:0001819	synonymous_variant	0			-	HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.777C>A	9.37:g.139341406G>T		Somatic	0	50	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S259	ENST00000313084.5	37	c.777		9	.	.	.	.	.	.	.	.	.	.	G	1.814	-0.473842	0.04414	.	.	ENSG00000148396	ENST00000433860	.	.	.	4.56	2.51	0.30379	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.27297	N	0.957679	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	7.8032	0.29187	0.0:0.1765:0.6423:0.1812	.	.	.	.	T	380	.	.	P	-	1	0	SEC16A	138461227	0.146000	0.22672	0.583000	0.28640	0.052000	0.14988	1.128000	0.31369	1.005000	0.39183	0.561000	0.74099	CCC	-	NULL		0.622	SEC16A-002	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055078.1	G	XM_088459	-		139341406	-1	no_errors	ENST00000313084	ensembl	human	known	74_37	silent	SNP	0.415	T
CAMSAP2	23271	genome.wustl.edu	37	1	200818301	200818301	+	Nonsense_Mutation	SNP	C	C	T	rs139123420		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:200818301C>T	ENST00000236925.4	+	12	2486	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	CAMSAP2_ENST00000358823.2_Nonsense_Mutation_p.R802*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.R786*			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	813					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATCTCCTCTACGAGAGGAAGC	0.428																																																	0								ENSG00000118200						87.0	100.0	96.0					1																	200818301		2203	4298	6501	CAMSAP2	SO:0001587	stop_gained	0			-	HGNC	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2437C>T	1.37:g.200818301C>T	ENSP00000236925:p.Arg813*	Somatic	0	19	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R813*	ENST00000236925.4	37	c.2437		1	.	.	.	.	.	.	.	.	.	.	C	37	6.590835	0.97688	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.51	5.51	0.81932	.	0.264640	0.38837	N	0.001541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5753	15.0554	0.71910	0.1426:0.8574:0.0:0.0	.	.	.	.	X	802;786;813	.	ENSP00000236925:R813X	R	+	1	2	CAMSAP1L1	199084924	0.795000	0.28851	0.711000	0.30485	0.853000	0.48598	1.354000	0.34056	2.574000	0.86865	0.484000	0.47621	CGA	-	NULL		0.428	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	protein_coding	OTTHUMT00000086956.2	C	NM_203459	-		200818301	+1	no_errors	ENST00000236925	ensembl	human	known	74_37	nonsense	SNP	0.980	T
ZNF671	79891	genome.wustl.edu	37	19	58232323	58232323	+	Missense_Mutation	SNP	A	A	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:58232323A>T	ENST00000317398.6	-	4	1226	c.1131T>A	c.(1129-1131)ttT>ttA	p.F377L	ZNF671_ENST00000335820.3_Missense_Mutation_p.F279L|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTGCTAAAAAATTTCCCAC	0.463																																																	0								ENSG00000083814						71.0	62.0	65.0					19																	58232323		2203	4300	6503	ZNF671	SO:0001583	missense	0			-	HGNC		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1131T>A	19.37:g.58232323A>T	ENSP00000321848:p.Phe377Leu	Somatic	0	35	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	A6NF07|Q9H5E9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.F377L	ENST00000317398.6	37	c.1131	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	A	8.024	0.760290	0.15914	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.17691	2.26;2.26	1.88	-3.76	0.04359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.02708	-0.52	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.33292	-0.9874	9	0.56958	D	0.05	.	4.4482	0.11607	0.5594:0.1881:0.2525:0.0	.	377	Q8TAW3	ZN671_HUMAN	L	377;279	ENSP00000321848:F377L;ENSP00000338670:F279L	ENSP00000321848:F377L	F	-	3	2	ZNF671	62924135	0.000000	0.05858	0.021000	0.16686	0.945000	0.59286	-3.451000	0.00466	-0.927000	0.03766	-0.375000	0.07067	TTT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	protein_coding	OTTHUMT00000466817.1	A	NM_024833	-		58232323	-1	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	SNP	0.026	T
SERAC1	84947	genome.wustl.edu	37	6	158569980	158569980	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:158569980G>A	ENST00000367104.3	-	5	403	c.272C>T	c.(271-273)gCc>gTc	p.A91V	SERAC1_ENST00000607000.1_Missense_Mutation_p.A91V|SERAC1_ENST00000367102.2_Missense_Mutation_p.A91V|SERAC1_ENST00000367101.1_Missense_Mutation_p.A91V	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	91					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGCCTGCCAGGCAATACCTAA	0.363																																																	0								ENSG00000122335						122.0	96.0	105.0					6																	158569980		2202	4300	6502	SERAC1	SO:0001583	missense	0			-	HGNC	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.272C>T	6.37:g.158569980G>A	ENSP00000356071:p.Ala91Val	Somatic	0	75	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PGAP1-like,superfamily_ARM-type_fold	p.A91V	ENST00000367104.3	37	c.272	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903444	0.17760	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.42900	0.96;0.96;0.96	5.27	0.0103	0.14083	.	0.658124	0.16417	N	0.215346	T	0.04003	0.0112	N	0.02011	-0.69	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	10	0.07813	T	0.8	-0.0556	9.2479	0.37539	0.419:0.0:0.581:0.0	.	91	Q96JX3	SRAC1_HUMAN	V	91	ENSP00000356069:A91V;ENSP00000356071:A91V;ENSP00000356068:A91V	ENSP00000356068:A91V	A	-	2	0	SERAC1	158489968	0.990000	0.36364	0.572000	0.28498	0.785000	0.44390	0.775000	0.26689	0.090000	0.17273	0.650000	0.86243	GCC	-	NULL		0.363	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	protein_coding	OTTHUMT00000042862.1	G	NM_032861	-		158569980	-1	no_errors	ENST00000367104	ensembl	human	known	74_37	missense	SNP	0.680	A
MAP4K1	11184	genome.wustl.edu	37	19	39088139	39088139	+	Missense_Mutation	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:39088139G>A	ENST00000591517.1	-	23	1793	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	MAP4K1_ENST00000423454.2_Silent_p.T230T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R585C|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R589C	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	589	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGTAGGCGGTGGGGGCTA	0.572																																																	0								ENSG00000104814						81.0	84.0	83.0					19																	39088139		2016	4163	6179	MAP4K1	SO:0001583	missense	0			-	HGNC	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1765C>T	19.37:g.39088139G>A	ENSP00000465039:p.Arg589Cys	Somatic	0	40	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R589C	ENST00000591517.1	37	c.1765	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	.	19.12	3.764938	0.69878	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.75477	-0.94	5.25	4.23	0.50019	Citron-like (3);	0.258863	0.30101	N	0.010406	T	0.82263	0.4999	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.82661	-0.0347	10	0.87932	D	0	.	6.6828	0.23129	0.0884:0.0:0.736:0.1756	.	589;589	Q92918-2;Q92918	.;M4K1_HUMAN	C	589	ENSP00000380066:R589C	ENSP00000221409:R589C	R	-	1	0	MAP4K1	43779979	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.314000	0.43743	1.472000	0.48140	0.555000	0.69702	CGC	-	pfam_Citron,smart_Citron		0.572	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	protein_coding	OTTHUMT00000453390.1	G	NM_001042600	-		39088139	-1	no_errors	ENST00000591517	ensembl	human	known	74_37	missense	SNP	1.000	A
CUTC	51076	genome.wustl.edu	37	10	101503811	101503811	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:101503811C>T	ENST00000370476.5	+	5	550	c.421C>T	c.(421-423)Cca>Tca	p.P141S		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	141					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCGCCCTCTGCCAGTCACTTT	0.348																																																	0								ENSG00000119929						134.0	126.0	129.0					10																	101503811		2203	4300	6503	CUTC	SO:0001583	missense	0			-	HGNC	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.421C>T	10.37:g.101503811C>T	ENSP00000359507:p.Pro141Ser	Somatic	0	59	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5TCZ8|Q9Y321	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom	p.P141S	ENST00000370476.5	37	c.421	CCDS7483.1	10	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140601	0.37825	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	4.97	4.97	0.65823	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.45698	1.435	0.80722	D	1	D;P	0.63046	0.992;0.92	P;P	0.59288	0.855;0.565	T	0.56147	-0.8027	9	0.10377	T	0.69	-14.6417	18.7716	0.91894	0.0:1.0:0.0:0.0	.	141;141	B4DYM2;Q9NTM9	.;CUTC_HUMAN	S	141;78	.	ENSP00000359503:P78S	P	+	1	0	CUTC	101493801	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.643000	0.74334	2.727000	0.93392	0.591000	0.81541	CCA	-	pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom		0.348	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTC	protein_coding	OTTHUMT00000049811.1	C	NM_015960	-		101503811	+1	no_errors	ENST00000370476	ensembl	human	known	74_37	missense	SNP	1.000	T
ABCA2	20	genome.wustl.edu	37	9	139915890	139915890	+	Missense_Mutation	SNP	G	G	A	rs201265841		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:139915890G>A	ENST00000371605.3	-	7	995	c.848C>T	c.(847-849)tCt>tTt	p.S283F	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.S284F|ABCA2_ENST00000265662.5_Missense_Mutation_p.S284F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	283					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGCTCAGCAGACAGCCCAGA	0.667																																																	0								ENSG00000107331						26.0	36.0	32.0					9																	139915890		2187	4291	6478	ABCA2	SO:0001583	missense	0			-	HGNC	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.848C>T	9.37:g.139915890G>A	ENSP00000360666:p.Ser283Phe	Somatic	0	21	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S284F	ENST00000371605.3	37	c.851		9	.	.	.	.	.	.	.	.	.	.	g	11.04	1.522613	0.27211	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88124	-2.34;-2.34;-2.34	3.94	3.94	0.45596	.	11.201900	0.01921	U	0.040492	D	0.84871	0.5568	N	0.19112	0.55	0.30647	N	0.755852	B;P;B	0.37955	0.303;0.612;0.214	B;B;B	0.41088	0.241;0.347;0.136	T	0.76233	-0.3034	10	0.66056	D	0.02	.	14.7387	0.69437	0.0:0.0:1.0:0.0	.	283;313;314	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	F	284;283;314;284	ENSP00000265662:S284F;ENSP00000360666:S283F;ENSP00000344155:S284F	ENSP00000265662:S284F	S	-	2	0	ABCA2	139035711	0.999000	0.42202	0.015000	0.15790	0.021000	0.10359	3.171000	0.50824	1.735000	0.51646	0.197000	0.17608	TCT	-	NULL		0.667	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	protein_coding		G	NM_001606	-		139915890	-1	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	SNP	0.986	A
CCDC132	55610	genome.wustl.edu	37	7	92938151	92938151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr7:92938151C>T	ENST00000305866.5	+	19	1773	c.1645C>T	c.(1645-1647)Caa>Taa	p.Q549*	CCDC132_ENST00000317751.6_Nonsense_Mutation_p.Q280*|CCDC132_ENST00000544910.1_Nonsense_Mutation_p.Q519*|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q360*|CCDC132_ENST00000535481.1_Nonsense_Mutation_p.Q269*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	549						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCTGATGAACAAGAAAAGAG	0.408																																																	0								ENSG00000004766						113.0	105.0	107.0					7																	92938151		1880	4113	5993	CCDC132	SO:0001587	stop_gained	0			-	HGNC	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1645C>T	7.37:g.92938151C>T	ENSP00000307666:p.Gln549*	Somatic	0	49	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.Q549*	ENST00000305866.5	37	c.1645	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.418281	0.96092	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	.	.	.	5.31	5.31	0.75309	.	0.075582	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	2.6215	19.3667	0.94466	0.0:1.0:0.0:0.0	.	.	.	.	X	549;519;360;269;280	.	ENSP00000307666:Q549X	Q	+	1	0	CCDC132	92776087	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.797000	0.62503	2.655000	0.90218	0.650000	0.86243	CAA	-	NULL		0.408	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	protein_coding	OTTHUMT00000341687.1	C	NM_017667	-		92938151	+1	no_errors	ENST00000305866	ensembl	human	known	74_37	nonsense	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33951639	33951640	+	lincRNA	INS	-	-	GCTAGG	rs3217586|rs70940218	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:33951639_33951640insGCTAGG	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ACTAAGGCACAGCTAGGGCGGG	0.619														1982	0.395767	0.3185	0.4856	5008	,	,		14411	0.3948		0.4245	False		,,,				2504	0.408																0								ENSG00000239649																																			MYADML			0				HGNC																													2.37:g.33951640_33951645dupGCTAGG		Somatic	NA	NA	NA		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			-	-		0.619	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	lincRNA	OTTHUMT00000325406.1	-				33951640	-1	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	INS	0.441:0.327	GCTAGG
ZNF236	7776	genome.wustl.edu	37	18	74607185	74607185	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr18:74607185G>T	ENST00000253159.8	+	10	1826	c.1628G>T	c.(1627-1629)tGc>tTc	p.C543F	ZNF236_ENST00000320610.9_Missense_Mutation_p.C545F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	543					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGCCAGTACTGCATGAAGAGC	0.627																																																	0								ENSG00000130856						59.0	65.0	63.0					18																	74607185		2199	4297	6496	ZNF236	SO:0001583	missense	0			-	HGNC	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1628G>T	18.37:g.74607185G>T	ENSP00000253159:p.Cys543Phe	Somatic	0	25	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	B2RTX9|Q9UL37	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C543F	ENST00000253159.8	37	c.1628	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926543	0.92319	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	D;D	0.85861	-2.04;-2.04	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95768	0.8623	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97286	0.9921	10	0.87932	D	0	.	19.3447	0.94358	0.0:0.0:1.0:0.0	.	543	Q9UL36	ZN236_HUMAN	F	543	ENSP00000253159:C543F;ENSP00000444524:C543F	ENSP00000253159:C543F	C	+	2	0	ZNF236	72736173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.493000	0.97960	2.564000	0.86499	0.563000	0.77884	TGC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	G		-		74607185	+1	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	SNP	0.992	T
FAM3A	60343	genome.wustl.edu	37	X	153735238	153735238	+	Splice_Site	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chrX:153735238C>T	ENST00000447601.2	-	9	1064		c.e9-1		FAM3A_ENST00000369641.3_Splice_Site|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000393572.1_Splice_Site|FAM3A_ENST00000359889.5_Splice_Site|FAM3A_ENST00000369643.1_Splice_Site|FAM3A_ENST00000434658.2_Splice_Site	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A							extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTCACGTGCTGTGGGGAGG	0.602																																																	0								ENSG00000071889						146.0	84.0	105.0					X																	153735238		2203	4300	6503	FAM3A	SO:0001630	splice_region_variant	0			-	HGNC	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.598-1G>A	X.37:g.153735238C>T		Somatic	0	62	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e9-1	ENST00000447601.2	37	c.598-1	CCDS35453.1	X	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765213	0.49574	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8342	0.85952	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM3A	153388432	1.000000	0.71417	0.971000	0.41717	0.370000	0.29829	7.666000	0.83877	2.235000	0.73313	0.529000	0.55759	.	-	-		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3A	protein_coding	OTTHUMT00000037362.2	C		-	Intron	153735238	-1	no_errors	ENST00000359889	ensembl	human	known	74_37	splice_site	SNP	1.000	T
LOC101927648	101927648	genome.wustl.edu	37	1	143355600	143355600	+	lincRNA	SNP	G	G	A	rs369564219		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:143355600G>A	ENST00000423249.1	-	0	1151				RP11-435B5.3_ENST00000430699.1_lincRNA																							AGATATCTGTGCAGCCCTTGG	0.383																																																	0								ENSG00000185044																																			RP11-435B5.4			0			-	Clone_based_vega_gene																													1.37:g.143355600G>A		Somatic	0	24	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			-	-		0.383	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927648	lincRNA	OTTHUMT00000037552.1	G		-		143355600	-1	no_errors	ENST00000423249	ensembl	human	known	74_37	rna	SNP	0.005	A
ARHGEF11	9826	genome.wustl.edu	37	1	156948122	156948122	+	Silent	SNP	G	G	T	rs538185429		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:156948122G>T	ENST00000361409.2	-	6	1126	c.384C>A	c.(382-384)ggC>ggA	p.G128G	ARHGEF11_ENST00000368194.3_Silent_p.G128G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	128					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCAGAGATGCCCATGGATG	0.592																																																	0								ENSG00000132694						102.0	98.0	100.0					1																	156948122		2203	4300	6503	ARHGEF11	SO:0001819	synonymous_variant	0			-	HGNC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.384C>A	1.37:g.156948122G>T		Somatic	0	35	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.G128	ENST00000361409.2	37	c.384	CCDS1162.1	1																																																																																			-	NULL		0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098931.1	G	NM_198236	-		156948122	-1	no_errors	ENST00000368194	ensembl	human	known	74_37	silent	SNP	0.078	T
RUFY4	285180	genome.wustl.edu	37	2	218940448	218940448	+	Silent	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:218940448G>T	ENST00000344321.7	+	9	1751	c.1233G>T	c.(1231-1233)ctG>ctT	p.L411L	RUFY4_ENST00000374155.3_Silent_p.L431L|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	411							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTGTCCCTGCAGGACGAGA	0.552																																																	0								ENSG00000188282						91.0	87.0	88.0					2																	218940448		2032	4186	6218	RUFY4	SO:0001819	synonymous_variant	0			-	HGNC	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1233G>T	2.37:g.218940448G>T		Somatic	0	23	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q6ZR96	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.L431	ENST00000344321.7	37	c.1293		2																																																																																			-	NULL		0.552	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	protein_coding		G	NM_198483	-		218940448	+1	no_errors	ENST00000374155	ensembl	human	known	74_37	silent	SNP	0.998	T
NRBF2	29982	genome.wustl.edu	37	10	64913658	64913658	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:64913658G>T	ENST00000277746.6	+	4	725	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	NRBF2_ENST00000435510.2_Missense_Mutation_p.V172L	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	182					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAAGAGGCATGTGGAATTCCT	0.403																																																	0								ENSG00000148572						28.0	31.0	30.0					10																	64913658		2189	4294	6483	NRBF2	SO:0001583	missense	0			-	HGNC	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.544G>T	10.37:g.64913658G>T	ENSP00000277746:p.Val182Leu	Somatic	0	77	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1875	p.V182L	ENST00000277746.6	37	c.544	CCDS7268.1	10	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775149	0.70107	.	.	ENSG00000148572	ENST00000277746;ENST00000395241;ENST00000435510	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.76002	2.32	0.58432	D	0.999994	P;D	0.58620	0.918;0.983	P;P	0.57371	0.577;0.819	T	0.77680	-0.2497	9	0.72032	D	0.01	-19.1692	15.1349	0.72555	0.0693:0.0:0.9307:0.0	.	172;182	B4DWS0;Q96F24	.;NRBF2_HUMAN	L	182;132;172	.	ENSP00000277746:V182L	V	+	1	0	NRBF2	64583664	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	6.907000	0.75724	2.744000	0.94065	0.563000	0.77884	GTG	-	pfam_DUF1875		0.403	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBF2	protein_coding	OTTHUMT00000048247.1	G	NM_030759	-		64913658	+1	no_errors	ENST00000277746	ensembl	human	known	74_37	missense	SNP	1.000	T
OR2C3	81472	genome.wustl.edu	37	1	247694953	247694953	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:247694953G>T	ENST00000366487.3	-	2	1222	c.861C>A	c.(859-861)aaC>aaA	p.N287K	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AAATAAGTGGGTTCAGCGCAG	0.537																																																	0								ENSG00000196242						100.0	86.0	91.0					1																	247694953		2203	4300	6503	OR2C3	SO:0001583	missense	0			-	HGNC	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.861C>A	1.37:g.247694953G>T	ENSP00000355443:p.Asn287Lys	Somatic	0	47	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N287K	ENST00000366487.3	37	c.861	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558297	0.13436	.	.	ENSG00000196242	ENST00000366487	T	0.59364	0.27	3.91	0.606	0.17559	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	U	0.001704	T	0.69593	0.3128	M	0.74389	2.26	0.27898	N	0.939097	D	0.89917	1.0	D	0.87578	0.998	T	0.61589	-0.7032	10	0.87932	D	0	.	7.1415	0.25558	0.3642:0.0:0.6358:0.0	.	287	Q8N628	OR2C3_HUMAN	K	287	ENSP00000355443:N287K	ENSP00000355443:N287K	N	-	3	2	OR2C3	245761576	1.000000	0.71417	0.199000	0.23439	0.008000	0.06430	0.654000	0.24918	0.008000	0.14787	-0.345000	0.07892	AAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	protein_coding	OTTHUMT00000097626.2	G	NM_198074	-		247694953	-1	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	SNP	1.000	T
OR7D2	162998	genome.wustl.edu	37	19	9297316	9297316	+	Missense_Mutation	SNP	C	C	G			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:9297316C>G	ENST00000344248.2	+	1	1038	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	287					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTGAACCCCTTCATCTA	0.567																																																	0								ENSG00000188000						71.0	70.0	70.0					19																	9297316		2203	4300	6503	OR7D2	SO:0001583	missense	0			-	HGNC	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.859C>G	19.37:g.9297316C>G	ENSP00000345563:p.Pro287Ala	Somatic	0	48	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q6IFJ7|Q8N133	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P287A	ENST00000344248.2	37	c.859	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877532	0.51801	.	.	ENSG00000188000	ENST00000344248	T	0.63255	-0.03	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001304	D	0.83156	0.5193	H	0.99325	4.515	0.26975	N	0.965482	P	0.50943	0.94	P	0.54759	0.76	T	0.78753	-0.2081	10	0.87932	D	0	.	11.9676	0.53044	0.0:1.0:0.0:0.0	.	287	Q96RA2	OR7D2_HUMAN	A	287	ENSP00000345563:P287A	ENSP00000345563:P287A	P	+	1	0	OR7D2	9158316	0.993000	0.37304	1.000000	0.80357	0.771000	0.43674	3.260000	0.51523	1.578000	0.49821	0.505000	0.49811	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.567	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	protein_coding	OTTHUMT00000449002.1	C		-		9297316	+1	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	SNP	1.000	G
PRTG	283659	genome.wustl.edu	37	15	55970112	55970112	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:55970112G>T	ENST00000389286.4	-	8	1311	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACATTATAGGGAGCACTGGGT	0.423																																																	0								ENSG00000166450						112.0	104.0	107.0					15																	55970112		1890	4120	6010	PRTG	SO:0001583	missense	0			-	HGNC	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1264C>A	15.37:g.55970112G>T	ENSP00000373937:p.Pro422Thr	Somatic	0	55	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P422T	ENST00000389286.4	37	c.1264	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087443	0.76642	.	.	ENSG00000166450	ENST00000389286	T	0.79845	-1.31	4.85	4.85	0.62838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050722	0.85682	D	0.000000	D	0.91811	0.7409	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	-15.2361	17.3567	0.87338	0.0:0.0:1.0:0.0	.	422	Q2VWP7	PRTG_HUMAN	T	422	ENSP00000373937:P422T	ENSP00000373937:P422T	P	-	1	0	PRTG	53757404	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.738000	0.98835	2.395000	0.81488	0.555000	0.69702	CCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	protein_coding	OTTHUMT00000419357.1	G	NM_173814	-		55970112	-1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	SNP	1.000	T
PSD4	23550	genome.wustl.edu	37	2	113942980	113942980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:113942980delT	ENST00000245796.6	+	4	1407	c.1212delT	c.(1210-1212)cctfs	p.P404fs	PSD4_ENST00000441564.3_Frame_Shift_Del_p.P404fs	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	404					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGAGGTCCTTTTTGGCCCC	0.567																																																	0								ENSG00000125637						91.0	97.0	95.0					2																	113942980		2203	4300	6503	PSD4	SO:0001589	frameshift_variant	0				HGNC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1212delT	2.37:g.113942980delT	ENSP00000245796:p.Pro404fs	Somatic	0	51	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.W406fs	ENST00000245796.6	37	c.1212	CCDS33276.1	2																																																																																			-	NULL		0.567	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	protein_coding	OTTHUMT00000330789.1	T	NM_012455			113942980	+1	no_errors	ENST00000245796	ensembl	human	known	74_37	frame_shift_del	DEL	0.582	-
SETMAR	6419	genome.wustl.edu	37	3	4355513	4355513	+	Intron	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr3:4355513C>T	ENST00000358065.4	+	2	1087				SETMAR_ENST00000430981.1_Missense_Mutation_p.T363I|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene						DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GCTAGCTTTACCTCTGCCTAG	0.463								Chromatin Structure																																									0								ENSG00000170364																																			SETMAR	SO:0001627	intron_variant	0			-	HGNC	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1020+68C>T	3.37:g.4355513C>T		Somatic	0	49	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SET_dom,pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.T363I	ENST00000358065.4	37	c.1088	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062642	0.08388	.	.	ENSG00000170364	ENST00000430981	D	0.95272	-3.66	3.24	-2.44	0.06502	.	.	.	.	.	D	0.84897	0.5574	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.70872	-0.4754	7	.	.	.	.	1.2116	0.01906	0.1619:0.31:0.3178:0.2104	.	363	C9JHK2	.	I	363	ENSP00000403000:T363I	.	T	+	2	0	SETMAR	4330513	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.784000	0.01769	-0.610000	0.05716	0.655000	0.94253	ACC	-	NULL		0.463	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	protein_coding	OTTHUMT00000206587.4	C	NM_006515	-		4355513	+1	no_errors	ENST00000430981	ensembl	human	known	74_37	missense	SNP	0.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117308997	117308997	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:117308997C>T	ENST00000355044.3	+	26	3872	c.3746C>T	c.(3745-3747)gCt>gTt	p.A1249V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.A42V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A300V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1249					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A1249V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGGTGGCTGCTGTGGTATGG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000107518						126.0	121.0	123.0					10																	117308997		2203	4300	6503	ATRNL1	SO:0001583	missense	0			-	HGNC	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3746C>T	10.37:g.117308997C>T	ENSP00000347152:p.Ala1249Val	Somatic	0	55	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1249V	ENST00000355044.3	37	c.3746	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964318	0.74131	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53857	0.6;0.6;0.6	5.54	5.54	0.83059	.	0.109297	0.64402	D	0.000010	T	0.59998	0.2235	L	0.28192	0.835	0.36899	D	0.890281	P;D	0.63880	0.689;0.993	B;D	0.72625	0.223;0.978	T	0.59815	-0.7383	10	0.25106	T	0.35	-14.0925	17.2741	0.87110	0.0:1.0:0.0:0.0	.	300;1249	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1249;300;42	ENSP00000347152:A1249V;ENSP00000409624:A300V;ENSP00000307660:A42V	ENSP00000307660:A42V	A	+	2	0	ATRNL1	117298987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.179000	0.65043	2.617000	0.88574	0.591000	0.81541	GCT	-	NULL		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	C	XM_049349	-		117308997	+1	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	SNP	1.000	T
TRPA1	8989	genome.wustl.edu	37	8	72935420	72935458	+	Intron	DEL	GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC	GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC	-	rs34076632|rs142191870|rs10089294	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC	GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr8:72935420_72935458delGCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC	ENST00000262209.4	-	27	3357				RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGTAGGAAGGCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAACGCATAGGTTT	0.372														2411	0.48143	0.4629	0.3617	5008	,	,		25826	0.7579		0.4384	False		,,,				2504	0.3507																0								ENSG00000104321																																			TRPA1	SO:0001627	intron_variant	0				HGNC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3150-69GTTCCTACATTCAGAAGGGACCGAGGTTAAAACCTATGC>-	8.37:g.72935420_72935458delGCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC		Somatic	NA	NA	NA		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NIN6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			-	-		0.372	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC	NM_007332			72935458	-1	no_errors	ENST00000520596	ensembl	human	putative	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
CSMD1	64478	genome.wustl.edu	37	8	2831976	2831976	+	Missense_Mutation	SNP	T	T	C			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr8:2831976T>C	ENST00000520002.1	-	57	9295	c.8740A>G	c.(8740-8742)Aca>Gca	p.T2914A	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2856A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2856A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2855A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2914A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2913A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2914	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTCACCTGTGCAGTGGGGC	0.473																																																	0								ENSG00000183117						49.0	49.0	49.0					8																	2831976		1970	4150	6120	CSMD1	SO:0001583	missense	0			-	HGNC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8740A>G	8.37:g.2831976T>C	ENSP00000430733:p.Thr2914Ala	Somatic	0	49	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2914A	ENST00000520002.1	37	c.8740		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.019|7.019	0.558268|0.558268	0.13436|0.13436	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.73363	.|-0.74;-0.74;-0.74;-0.74	5.57|5.57	3.03|3.03	0.35002|0.35002	.|Complement control module (1);Sushi/SCR/CCP (1);	.|0.247190	.|0.34531	.|N	.|0.003895	T|T	0.58104|0.58104	0.2099|0.2099	N|N	0.25825|0.25825	0.765|0.765	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25312	.|0.005;0.0;0.123	.|B;B;B	.|0.29942	.|0.004;0.001;0.109	T|T	0.44937|0.44937	-0.9295|-0.9295	5|10	.|0.10377	.|T	.|0.69	.|.	9.9726|9.9726	0.41763|0.41763	0.6997:0.0:0.0:0.3002|0.6997:0.0:0.0:0.3002	.|.	.|2914;2914;2855	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	2330|2856;2914;2775;2913;2855	.|ENSP00000383047:T2856A;ENSP00000430733:T2914A;ENSP00000441462:T2913A;ENSP00000446243:T2855A	.|ENSP00000320445:T2775A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2819383|2819383	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.193000|0.193000	0.23685|0.23685	2.435000|2.435000	0.44811|0.44811	0.906000|0.906000	0.36621|0.36621	0.482000|0.482000	0.46254|0.46254	CAC|ACA	-	pfscan_Sushi_SCR_CCP		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		2831976	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.972	C
ZBTB38	253461	genome.wustl.edu	37	3	141164143	141164143	+	Missense_Mutation	SNP	T	T	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr3:141164143T>A	ENST00000514251.1	+	4	3192	c.2913T>A	c.(2911-2913)ttT>ttA	p.F971L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.F971L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.F972L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATAAACCCTTTGAGGAAGAAG	0.532																																																	0								ENSG00000177311						29.0	30.0	30.0					3																	141164143		1913	4135	6048	ZBTB38	SO:0001583	missense	0			-	HGNC	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2913T>A	3.37:g.141164143T>A	ENSP00000426387:p.Phe971Leu	Somatic	0	22	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.F972L	ENST00000514251.1	37	c.2916	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	T	0.411	-0.913117	0.02415	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08282	3.11;3.11;3.11	5.65	-9.84	0.00479	.	0.802999	0.10789	N	0.633996	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44513	-0.9323	9	.	.	.	-1.6693	16.6035	0.84822	0.0:0.6322:0.1746:0.1932	.	972;971	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	971;971;972	ENSP00000426387:F971L;ENSP00000406955:F971L;ENSP00000372635:F972L	.	F	+	3	2	ZBTB38	142646833	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-2.394000	0.01054	-2.128000	0.00818	-0.911000	0.02809	TTT	-	NULL		0.532	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	protein_coding	OTTHUMT00000359329.2	T		-		141164143	+1	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	SNP	0.000	A
TRAPPC12	51112	genome.wustl.edu	37	2	3391677	3391677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:3391677G>T	ENST00000324266.5	+	2	478	c.283G>T	c.(283-285)Gga>Tga	p.G95*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.G95*	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	95					vesicle-mediated transport (GO:0016192)												AGCTGAGCCCGGAGGGGAAGG	0.726																																																	0								ENSG00000171853						13.0	12.0	12.0					2																	3391677		2170	4257	6427	TRAPPC12	SO:0001587	stop_gained	0			-	HGNC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.283G>T	2.37:g.3391677G>T	ENSP00000324318:p.Gly95*	Somatic	0	20	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G95*	ENST00000324266.5	37	c.283	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713202	0.48517	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	.	.	.	5.21	-7.75	0.01236	.	1.644710	0.03054	N	0.154999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.4897	0.38951	0.3822:0.4566:0.1612:0.0	.	.	.	.	X	95;78;95	.	ENSP00000303612:G78X	G	+	1	0	TTC15	3370684	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.026000	0.12392	-1.694000	0.01425	-1.129000	0.01985	GGA	-	NULL		0.726	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	protein_coding	OTTHUMT00000206693.2	G	NM_016030	-		3391677	+1	no_errors	ENST00000324266	ensembl	human	known	74_37	nonsense	SNP	0.000	T
ZNF462	58499	genome.wustl.edu	37	9	109765593	109765593	+	Silent	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr9:109765593C>T	ENST00000277225.5	+	11	7364	c.7075C>T	c.(7075-7077)Ctg>Ttg	p.L2359L	ZNF462_ENST00000441147.2_Silent_p.L1265L|ZNF462_ENST00000542028.1_Silent_p.L316L|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.L2419L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2359					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TAACTTTGAGCTGGTTGGACG	0.448																																																	0								ENSG00000148143						155.0	141.0	146.0					9																	109765593		2203	4300	6503	ZNF462	SO:0001819	synonymous_variant	0			-	HGNC	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7075C>T	9.37:g.109765593C>T		Somatic	0	62	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q5T0T4|Q8N408	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L2419	ENST00000277225.5	37	c.7255	CCDS35096.1	9																																																																																			-	NULL		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224	-		109765593	+1	no_errors	ENST00000457913	ensembl	human	known	74_37	silent	SNP	1.000	T
CD3EAP	10849	genome.wustl.edu	37	19	45912297	45912297	+	Silent	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:45912297G>A	ENST00000309424.3	+	3	1559	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.L359L|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	357					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGAAGCCTCTGGAGTCCCCAG	0.582																																																	0								ENSG00000117877						40.0	48.0	45.0					19																	45912297		2202	4299	6501	CD3EAP	SO:0001819	synonymous_variant	0			-	HGNC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1071G>A	19.37:g.45912297G>A		Somatic	0	92	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	65	9.72	Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA-dir_RNA_pol1_su_RPA34	p.L359	ENST00000309424.3	37	c.1077	CCDS12661.1	19																																																																																			-	NULL		0.582	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	protein_coding	OTTHUMT00000459538.1	G	NM_012099	-		45912297	+1	no_errors	ENST00000589804	ensembl	human	known	74_37	silent	SNP	0.006	A
NOS2P4	266619	genome.wustl.edu	37	17	16715808	16715808	+	RNA	SNP	G	G	T	rs151287910	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr17:16715808G>T	ENST00000602730.1	+	0	2093																											CGTTCCTGGAGCTGCTGGAGG	0.597																																																	0								ENSG00000272815																																			RP11-219A15.4			0			-	Clone_based_vega_gene																													17.37:g.16715808G>T		Somatic	1	114	0.86		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	88	8.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000602730.1	37	NULL		17																																																																																			-	-		0.597	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000272815	processed_transcript	OTTHUMT00000468034.1	G		-		16715808	+1	no_errors	ENST00000602730	ensembl	human	known	74_37	rna	SNP	1.000	T
ZNF326	284695	genome.wustl.edu	37	1	90492954	90492954	+	Silent	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:90492954G>A	ENST00000340281.4	+	12	1586	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	ZNF326_ENST00000455342.2_Silent_p.Q275Q|ZNF326_ENST00000370447.3_Silent_p.Q392Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	481					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTCAGGATCAGCAAATAGAAG	0.393																																																	0								ENSG00000162664						102.0	108.0	106.0					1																	90492954		2203	4300	6503	ZNF326	SO:0001819	synonymous_variant	0			-	HGNC	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1443G>A	1.37:g.90492954G>A		Somatic	0	41	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.09	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AKAP95	p.Q481	ENST00000340281.4	37	c.1443	CCDS727.1	1																																																																																			-	NULL		0.393	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	protein_coding	OTTHUMT00000029428.2	G	NM_181781	-		90492954	+1	no_errors	ENST00000340281	ensembl	human	known	74_37	silent	SNP	0.994	A
KIAA0430	9665	genome.wustl.edu	37	16	15696480	15696481	+	Intron	INS	-	-	AGGAAAGAAGGAGGGAGGCAGAG	rs373385405|rs373082870|rs79821793|rs71293163	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr16:15696480_15696481insAGGAAAGAAGGAGGGAGGCAGAG	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.-1113fs|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000548025.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						gaggaggaggaaggaaagaagg	0.406														4802	0.958866	0.9955	0.9294	5008	,	,		23942	0.998		0.8777	False		,,,				2504	0.9734																0								ENSG00000166783																																			KIAA0430	SO:0001627	intron_variant	0				HGNC	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-420->CTCTGCCTCCCTCCTTCTTTCCT	16.37:g.15696480_15696481insAGGAAAGAAGGAGGGAGGCAGAG		Somatic	NA	NA	NA		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1114fs	ENST00000396368.3	37	c.3339_3338	CCDS10562.2	16																																																																																			-	NULL		0.406	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	-	NM_014647			15696481	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	AGGAAAGAAGGAGGGAGGCAGAG
SOX11	6664	genome.wustl.edu	37	2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	GAC	GAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0								ENSG00000176887			5,289,3358		0,0,5,14,261,1546						-1.6	1.0			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SOX11	SO:0001651	inframe_deletion	0				HGNC		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del	Somatic	0	35	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q4ZFV8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			-	pirsf_SOX-12/11/4a		0.700	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	protein_coding	OTTHUMT00000206698.1	GAC	NM_003108			5833528	+1	no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.999	-
LRRC7	57554	genome.wustl.edu	37	1	70477507	70477507	+	Missense_Mutation	SNP	T	T	G			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:70477507T>G	ENST00000035383.5	+	10	948	c.918T>G	c.(916-918)tgT>tgG	p.C306W	LRRC7_ENST00000310961.5_Missense_Mutation_p.C311W|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	306						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATTTGACTGTAGCTGTAATG	0.333																																																	0								ENSG00000033122						50.0	49.0	49.0					1																	70477507		2201	4299	6500	LRRC7	SO:0001583	missense	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.918T>G	1.37:g.70477507T>G	ENSP00000035383:p.Cys306Trp	Somatic	0	61	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.C306W	ENST00000035383.5	37	c.918	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045281	0.55110	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.24723	1.97;1.84	5.14	-2.72	0.05968	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	L	0.49778	1.585	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.23368	-1.0190	10	0.87932	D	0	.	13.5734	0.61860	0.0:0.6408:0.0:0.3592	.	306	Q96NW7	LRRC7_HUMAN	W	311;306;129	ENSP00000309245:C311W;ENSP00000035383:C306W	ENSP00000035383:C306W	C	+	3	2	LRRC7	70250095	0.989000	0.36119	0.991000	0.47740	0.979000	0.70002	0.231000	0.17872	-0.425000	0.07371	-0.911000	0.02809	TGT	-	NULL		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	T	NM_020794	-		70477507	+1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	SNP	0.956	G
THBD	7056	genome.wustl.edu	37	20	23030031	23030031	+	Silent	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr20:23030031C>T	ENST00000377103.2	-	1	347	c.111G>A	c.(109-111)gcG>gcA	p.A37A		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CCGGGTAGAGCGCGAAGCAGT	0.701																																																	0								ENSG00000178726						7.0	9.0	8.0					20																	23030031		2153	4208	6361	THBD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.111G>A	20.37:g.23030031C>T		Somatic	0	18	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q8IV29|Q9UC32	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.A37	ENST00000377103.2	37	c.111	CCDS13148.1	20																																																																																			-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.701	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	protein_coding	OTTHUMT00000078307.2	C		-		23030031	-1	no_errors	ENST00000377103	ensembl	human	known	74_37	silent	SNP	0.001	T
NOL4	8715	genome.wustl.edu	37	18	31523144	31523145	+	Splice_Site	INS	-	-	A	rs530792420		TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr18:31523144_31523145insA	ENST00000261592.5	-	9	1726		c.e9-2		NOL4_ENST00000535384.1_Splice_Site|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000535475.1_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.?(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTCGAGACTAAAAAAAAAAA	0.406																																																	2	Unknown(2)	ovary(1)|lung(1)						ENSG00000101746																																			NOL4	SO:0001630	splice_region_variant	0				HGNC	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1429-2->T	18.37:g.31523155_31523155dupA		Somatic	0	13	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e9-2	ENST00000261592.5	37	c.1429-3_1429-2	CCDS11907.2	18																																																																																			-	-		0.406	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	protein_coding	OTTHUMT00000255386.1	-	NM_003787		Intron	31523145	-1	no_errors	ENST00000261592	ensembl	human	known	74_37	splice_site_ins	INS	1.000:1.000	A
C6orf10	10665	genome.wustl.edu	37	6	32322900	32322900	+	Splice_Site	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr6:32322900C>T	ENST00000447241.2	-	8	432		c.e8+1		C6orf10_ENST00000527965.1_Splice_Site|RNU6-603P_ENST00000411403.1_RNA|C6orf10_ENST00000375007.4_Splice_Site|C6orf10_ENST00000533191.1_Splice_Site|C6orf10_ENST00000442822.2_Splice_Site|C6orf10_ENST00000375015.4_Splice_Site	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10							integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AAAGCACTTACCTAGAGAGTT	0.338																																																	0								ENSG00000204296						73.0	67.0	69.0					6																	32322900		1511	2709	4220	C6orf10	SO:0001630	splice_region_variant	0			-	HGNC	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.259+1G>A	6.37:g.32322900C>T		Somatic	0	39	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e8+1	ENST00000447241.2	37	c.259+1	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944424	0.53079	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000532023;ENST00000534588	.	.	.	4.02	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7718	0.40593	0.0:0.79:0.21:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf10	32430878	0.996000	0.38824	0.991000	0.47740	0.947000	0.59692	1.559000	0.36320	1.246000	0.43901	0.650000	0.86243	.	-	-		0.338	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	protein_coding	OTTHUMT00000076178.4	C	NM_006781	-	Intron	32322900	-1	no_errors	ENST00000447241	ensembl	human	known	74_37	splice_site	SNP	0.992	T
CHD2	1106	genome.wustl.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																																	0								ENSG00000173575																																			CHD2	SO:0001589	frameshift_variant	0				HGNC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs	Somatic	0	44	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	C6G482|Q96IP5	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y1246fs	ENST00000394196.4	37	c.3724_3725	CCDS10374.2	15																																																																																			-	NULL		0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	-	NM_001271			93540316	+1	no_errors	ENST00000557381	ensembl	human	putative	74_37	frame_shift_ins	INS	1.000:1.000	A
ROBO3	64221	genome.wustl.edu	37	11	124742797	124742797	+	Missense_Mutation	SNP	C	C	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr11:124742797C>T	ENST00000397801.1	+	9	1540	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	ROBO3_ENST00000538940.1_Missense_Mutation_p.P428S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	450	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGATGGGCTGCCTCCTGTCAT	0.627																																																	0								ENSG00000154134						24.0	27.0	26.0					11																	124742797		1987	4163	6150	ROBO3	SO:0001583	missense	0			-	HGNC	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1348C>T	11.37:g.124742797C>T	ENSP00000380903:p.Pro450Ser	Somatic	0	57	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P450S	ENST00000397801.1	37	c.1348	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545721	0.86022	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.40476	1.03;1.03	4.56	4.56	0.56223	Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000976	T	0.63593	0.2524	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.69544	-0.5117	10	0.87932	D	0	.	17.1048	0.86659	0.0:1.0:0.0:0.0	.	450	Q96MS0	ROBO3_HUMAN	S	450;428	ENSP00000380903:P450S;ENSP00000441797:P428S	ENSP00000380903:P450S	P	+	1	0	ROBO3	124248007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.359000	0.80004	0.462000	0.41574	CCT	-	NULL		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	protein_coding	OTTHUMT00000387091.1	C	XM_370663	-		124742797	+1	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	SNP	1.000	T
SPPL2B	56928	genome.wustl.edu	37	19	2341094	2341101	+	RNA	DEL	CTCCCTGG	CTCCCTGG	-	rs77642174|rs76166147|rs386805838|rs547300749	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	CTCCCTGG	CTCCCTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr19:2341094_2341101delCTCCCTGG	ENST00000452401.2	+	0	1033							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCCTGCCCTCCCTGGAGGCCGCCCC	0.702														1248	0.249201	0.0469	0.3718	5008	,	,		14617	0.25		0.4294	False		,,,				2504	0.2495																0								ENSG00000005206																																			SPPL2B			0				HGNC		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2341094_2341101delCTCCCTGG		Somatic	NA	NA	NA		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000452401.2	37	NULL		19																																																																																			-	-		0.702	SPPL2B-202	KNOWN	basic	processed_transcript	SPPL2B	processed_transcript		CTCCCTGG	NM_020172			2341101	+1	no_errors	ENST00000592738	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.010:0.001:0.000:0.000:0.001:0.000	-
TRPM1	4308	genome.wustl.edu	37	15	31341608	31341608	+	Silent	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:31341608G>A	ENST00000256552.6	-	13	1689	c.1542C>T	c.(1540-1542)acC>acT	p.T514T	TRPM1_ENST00000542188.1_Silent_p.T531T|TRPM1_ENST00000397795.2_Silent_p.T492T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCTCGGAATGGTCAGAAAGT	0.463																																																	0								ENSG00000134160						152.0	145.0	147.0					15																	31341608		1985	4157	6142	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1542C>T	15.37:g.31341608G>A		Somatic	0	47	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.T531	ENST00000256552.6	37	c.1593	CCDS58346.1	15																																																																																			-	NULL		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31341608	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.991	A
DENND2C	163259	genome.wustl.edu	37	1	115129946	115129946	+	Intron	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:115129946G>A	ENST00000393274.1	-	20	3381				DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Intron|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ggaattacaggcatgagccac	0.512																																																	0								ENSG00000175984																																			DENND2C	SO:0001627	intron_variant	0			-	HGNC		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2755+61C>T	1.37:g.115129946G>A		Somatic	0	30	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B1AL26|Q5TCX6|Q6P3R3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			-	-		0.512	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	protein_coding	OTTHUMT00000314822.1	G	NM_198459	-		115129946	-1	no_errors	ENST00000481894	ensembl	human	known	74_37	rna	SNP	0.334	A
TNR	7143	genome.wustl.edu	37	1	175355259	175355259	+	Missense_Mutation	SNP	C	C	G			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr1:175355259C>G	ENST00000367674.2	-	8	2394	c.1686G>C	c.(1684-1686)caG>caC	p.Q562H	TNR_ENST00000263525.2_Missense_Mutation_p.Q562H			Q92752	TENR_HUMAN	tenascin R	562	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCGCAGGGCCTGCACTGAGT	0.592																																																	0								ENSG00000116147						55.0	54.0	54.0					1																	175355259		2203	4300	6503	TNR	SO:0001583	missense	0			-	HGNC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1686G>C	1.37:g.175355259C>G	ENSP00000356646:p.Gln562His	Somatic	0	36	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.Q562H	ENST00000367674.2	37	c.1686	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530814	0.64860	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57595	0.39;0.39	5.58	1.62	0.23740	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	L	0.46614	1.455	0.58432	D	0.999994	D	0.69078	0.997	D	0.85130	0.997	T	0.59225	-0.7494	10	0.41790	T	0.15	.	12.0664	0.53590	0.0:0.7815:0.0:0.2185	.	562	Q92752	TENR_HUMAN	H	562	ENSP00000356646:Q562H;ENSP00000263525:Q562H	ENSP00000263525:Q562H	Q	-	3	2	TNR	173621882	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.349000	0.33998	0.459000	0.27016	0.650000	0.86243	CAG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	C	NM_003285	-		175355259	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	SNP	1.000	G
CNTD1	124817	genome.wustl.edu	37	17	40951000	40951000	+	5'UTR	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr17:40951000G>T	ENST00000588408.1	+	0	191				COA3_ENST00000328434.7_5'Flank|CNTD1_ENST00000588527.1_5'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1											central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAATCCAGGGTGTGGCAGA	0.572																																																	0								ENSG00000176563																																			CNTD1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.-86G>T	17.37:g.40951000G>T		Somatic	0	41	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q658Q6|Q8NEP1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000588408.1	37	NULL	CCDS11440.1	17																																																																																			-	-		0.572	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	protein_coding	OTTHUMT00000452398.1	G	NM_173478	-		40951000	+1	no_errors	ENST00000591559	ensembl	human	known	74_37	rna	SNP	0.000	T
MGA	23269	genome.wustl.edu	37	15	42003273	42003273	+	Missense_Mutation	SNP	A	A	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr15:42003273A>T	ENST00000570161.1	+	7	2810	c.2810A>T	c.(2809-2811)aAg>aTg	p.K937M	MGA_ENST00000545763.1_Missense_Mutation_p.K937M|MGA_ENST00000219905.7_Missense_Mutation_p.K937M|MGA_ENST00000566586.1_Missense_Mutation_p.K937M|MGA_ENST00000389936.4_Missense_Mutation_p.K937M			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGGAGATAAGGTTACCAAG	0.368																																																	0								ENSG00000174197						141.0	140.0	140.0					15																	42003273		1895	4128	6023	MGA	SO:0001583	missense	0			-	HGNC	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2810A>T	15.37:g.42003273A>T	ENSP00000457035:p.Lys937Met	Somatic	0	45	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.K937M	ENST00000570161.1	37	c.2810	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580018	0.65992	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18657	2.2;2.2;2.2	5.84	4.7	0.59300	.	0.446931	0.23602	N	0.046429	T	0.22742	0.0549	L	0.27053	0.805	0.34948	D	0.751007	D;D	0.63046	0.963;0.992	P;P	0.53102	0.718;0.671	T	0.30822	-0.9965	10	0.87932	D	0	.	8.4658	0.32956	0.8458:0.0:0.1542:0.0	.	937;937	F5H7K2;E7ENI0	.;.	M	937	ENSP00000219905:K937M;ENSP00000374586:K937M;ENSP00000442467:K937M	ENSP00000219905:K937M	K	+	2	0	MGA	39790565	0.816000	0.29132	0.951000	0.38953	0.965000	0.64279	1.407000	0.34657	1.031000	0.39867	0.533000	0.62120	AAG	-	NULL		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	A	NM_001164273.1	-		42003273	+1	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	SNP	0.966	T
PKHD1L1	93035	genome.wustl.edu	37	8	110416813	110416813	+	Nonsense_Mutation	SNP	C	C	A	rs1457286	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr8:110416813C>A	ENST00000378402.5	+	15	1508	c.1404C>A	c.(1402-1404)taC>taA	p.Y468*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	468					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCAGGAGTACAGATTAAGTG	0.313										HNSCC(38;0.096)																																							0								ENSG00000205038						99.0	92.0	94.0					8																	110416813		1863	4104	5967	PKHD1L1	SO:0001587	stop_gained	0			-	HGNC	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1404C>A	8.37:g.110416813C>A	ENSP00000367655:p.Tyr468*	Somatic	0	49	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	Q567P2|Q9UF27	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.Y468*	ENST00000378402.5	37	c.1404	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473304	0.43942	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.45	-7.13	0.01532	.	0.165913	0.41194	D	0.000936	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2788	0.87122	0.0:0.5819:0.0:0.4181	.	.	.	.	X	468	.	ENSP00000367655:Y468X	Y	+	3	2	PKHD1L1	110485989	0.272000	0.24172	0.002000	0.10522	0.032000	0.12392	-0.606000	0.05654	-2.708000	0.00395	-2.988000	0.00079	TAC	-	smart_PA14		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110416813	+1	no_errors	ENST00000378402	ensembl	human	known	74_37	nonsense	SNP	0.005	A
ZDHHC6	64429	genome.wustl.edu	37	10	114194138	114194138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr10:114194138G>A	ENST00000369405.3	-	7	1243	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	ZDHHC6_ENST00000482410.1_5'Flank|ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.Q270*	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	274					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GTAAATACCTGTTTAAAGTTC	0.403																																																	0								ENSG00000023041						113.0	104.0	107.0					10																	114194138		2203	4300	6503	ZDHHC6	SO:0001587	stop_gained	0			-	HGNC	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.820C>T	10.37:g.114194138G>A	ENSP00000358413:p.Gln274*	Somatic	0	60	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	D3DRB6|Q53G45|Q96IV7|Q9H605	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.Q274*	ENST00000369405.3	37	c.820	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	G	41	9.140292	0.99078	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	.	.	.	5.69	4.78	0.61160	.	0.112422	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.2711	16.3159	0.82928	0.0:0.0:0.8665:0.1335	.	.	.	.	X	274;270	.	ENSP00000358412:Q270X	Q	-	1	0	ZDHHC6	114184128	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.696000	0.98695	1.519000	0.48950	0.650000	0.86243	CAG	-	NULL		0.403	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	protein_coding	OTTHUMT00000050393.1	G	NM_022494	-		114194138	-1	no_errors	ENST00000369405	ensembl	human	known	74_37	nonsense	SNP	1.000	A
CDON	50937	genome.wustl.edu	37	11	125831880	125831880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr11:125831880delT	ENST00000392693.3	-	19	3497	c.3370delA	c.(3370-3372)accfs	p.T1124fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.T1124fs|CDON_ENST00000531738.1_Frame_Shift_Del_p.T501fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1124					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTGCTGTTGGTTTTGGTGAAA	0.433																																																	0								ENSG00000064309						56.0	57.0	57.0					11																	125831880		2201	4299	6500	CDON	SO:0001589	frameshift_variant	0				HGNC	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3370delA	11.37:g.125831880delT	ENSP00000376458:p.Thr1124fs	Somatic	0	34	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	O14631	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1124fs	ENST00000392693.3	37	c.3370	CCDS58192.1	11																																																																																			-	NULL		0.433	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	T	NM_016952			125831880	-1	no_errors	ENST00000392693	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
EEF1DP3	196549	genome.wustl.edu	37	13	32527290	32527290	+	RNA	SNP	C	C	T	rs561644785	byFrequency	TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr13:32527290C>T	ENST00000428783.1	+	0	990							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GAGACGGACACGGCCCACCTG	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16611	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000229715																																			EEF1DP3			0			-	HGNC			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527290C>T		Somatic	0	75	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q08AR3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			-	-		0.662	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	pseudogene	OTTHUMT00000044400.2	C	NR_027062	-		32527290	+1	no_errors	ENST00000428783	ensembl	human	known	74_37	rna	SNP	1.000	T
KCND2	3751	genome.wustl.edu	37	7	120382581	120382581	+	Missense_Mutation	SNP	G	G	T			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr7:120382581G>T	ENST00000331113.4	+	4	2357	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	464				Q -> P (in Ref. 1; AAD22053). {ECO:0000305}.	action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGATGAGCAGGCTTTTGTTA	0.463																																																	0								ENSG00000184408						152.0	151.0	151.0					7																	120382581		2203	4300	6503	KCND2	SO:0001583	missense	0			-	HGNC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1392G>T	7.37:g.120382581G>T	ENSP00000333496:p.Gln464His	Somatic	0	55	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.Q464H	ENST00000331113.4	37	c.1392	CCDS5776.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030339|3.030339	0.54790|0.54790	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.83591|.	-1.74|.	5.4|5.4	1.19|1.19	0.21007|0.21007	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.234811|.	0.35013|.	N|.	0.003503|.	T|T	0.37404|0.37404	0.1002|0.1002	L|L	0.38531|0.38531	1.155|1.155	0.24376|0.24376	N|N	0.994812|0.994812	P|.	0.45011|.	0.848|.	P|.	0.50860|.	0.652|.	T|T	0.28299|0.28299	-1.0048|-1.0048	9|5	.|.	.|.	.|.	.|.	11.7232|11.7232	0.51693|0.51693	0.2395:0.0:0.7605:0.0|0.2395:0.0:0.7605:0.0	.|.	464|.	Q9NZV8|.	KCND2_HUMAN|.	H|M	464|50	ENSP00000333496:Q464H|.	.|.	Q|R	+|+	3|2	2|0	KCND2|KCND2	120169817|120169817	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.961000|0.961000	0.63080|0.63080	0.667000|0.667000	0.25112|0.25112	0.007000|0.007000	0.14760|0.14760	0.557000|0.557000	0.71058|0.71058	CAG|AGG	-	pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4.2		0.463	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	G	NM_012281	-		120382581	+1	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	SNP	1.000	T
WT1-AS	51352	genome.wustl.edu	37	11	32461985	32461985	+	RNA	SNP	T	T	C			TCGA-Z4-A8JB-01A-23D-A37C-09	TCGA-Z4-A8JB-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	693ee45f-0cc9-45e1-8b05-bfb08253990a	ef7ae782-355b-4982-8713-82dfdb7e1fab	g.chr11:32461985T>C	ENST00000395900.1	+	0	2863				WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGCTTAATCGTAAGCAGAGAT	0.328																																																	0								ENSG00000183242																																			WT1-AS			0			-	HGNC	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32461985T>C		Somatic	0	54	0.00		0.39286138915197255	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q4KMY0|Q96A27	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000395900.1	37	NULL		11																																																																																			-	-		0.328	WT1-AS-001	KNOWN	basic	antisense	WT1-AS	antisense	OTTHUMT00000095437.1	T	NR_023920	-		32461985	+1	no_errors	ENST00000395900	ensembl	human	known	74_37	rna	SNP	0.329	C
