#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAMTS19	171019	genome.wustl.edu	37	5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:129037232C>T	ENST00000274487.4	+	20	3233	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1030	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592																																																	0													75.0	68.0	71.0					5																	129037232		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3088C>T	5.37:g.129037232C>T	ENSP00000274487:p.Arg1030Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1030C	ENST00000274487.4	37	c.3088	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519990	0.64634	.	.	ENSG00000145808	ENST00000274487	T	0.52983	0.64	4.0	3.13	0.36017	.	0.209202	0.33712	N	0.004637	T	0.59715	0.2214	M	0.70842	2.15	0.58432	D	0.999991	D	0.69078	0.997	P	0.57548	0.823	T	0.62891	-0.6758	9	.	.	.	.	12.6115	0.56554	0.0:0.9173:0.0:0.0827	.	1030	Q8TE59	ATS19_HUMAN	C	1030	ENSP00000274487:R1030C	.	R	+	1	0	ADAMTS19	129065131	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.356000	0.44116	1.273000	0.44346	0.650000	0.86243	CGC	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.592	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		129037232	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	T
AQP7	364	genome.wustl.edu	37	9	33402384	33402385	+	5'UTR	INS	-	-	T	rs200509407		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:33402384_33402385insT	ENST00000537089.1	-	0	127_128				AQP7_ENST00000377425.4_5'UTR|RP11-311H10.4_ENST00000450864.1_RNA|AQP7_ENST00000539936.1_5'UTR|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCTGAAATGTCTCTGATTCTCA	0.614																																																	0																																										SO:0001623	5_prime_UTR_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.-192->A	9.37:g.33402385_33402385dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08E94|Q5T5L9|Q8NHM3	RNA	INS	-	NULL	ENST00000537089.1	37	NULL		9																																																																																			AQP7	-	-		0.614	AQP7-202	KNOWN	basic	protein_coding	AQP7	HGNC	protein_coding		-	NM_001170		33402385	-1	no_errors	ENST00000481906	ensembl	human	known	70_37	rna	INS	0.005:0.007	T
ARMC3	219681	genome.wustl.edu	37	10	23295873	23295873	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr10:23295873C>G	ENST00000298032.5	+	14	1876	c.1792C>G	c.(1792-1794)Cta>Gta	p.L598V	ARMC3_ENST00000409983.3_Missense_Mutation_p.L598V|ARMC3_ENST00000409049.3_Missense_Mutation_p.L598V|ARMC3_ENST00000376528.4_Missense_Mutation_p.L335V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	598						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCAAGTGACCTACGGGCTGT	0.448																																																	0													126.0	121.0	123.0					10																	23295873		2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1792C>G	10.37:g.23295873C>G	ENSP00000298032:p.Leu598Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L598V	ENST00000298032.5	37	c.1792	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092065	0.36952	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37752	1.2;1.2;1.18;2.43	5.66	4.76	0.60689	.	0.860857	0.10334	N	0.687193	T	0.33323	0.0859	L	0.36672	1.1	0.09310	N	1	B;B	0.26081	0.141;0.116	B;B	0.28305	0.088;0.026	T	0.27297	-1.0078	10	0.48119	T	0.1	-9.9163	12.6184	0.56590	0.0:0.9227:0.0:0.0773	.	598;598	Q5W041-4;Q5W041	.;ARMC3_HUMAN	V	598;598;534;598;335	ENSP00000298032:L598V;ENSP00000386943:L598V;ENSP00000387288:L598V;ENSP00000365711:L335V	ENSP00000298032:L598V	L	+	1	2	ARMC3	23335879	0.398000	0.25279	0.036000	0.18154	0.963000	0.63663	2.940000	0.49003	1.400000	0.46741	-0.140000	0.14226	CTA	ARMC3	-	NULL		0.448	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	C	NM_173081		23295873	+1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.112	G
AURKAIP1	54998	genome.wustl.edu	37	1	1310233	1310233	+	5'UTR	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:1310233G>A	ENST00000338370.3	-	0	304				AURKAIP1_ENST00000489799.1_Intron|AURKAIP1_ENST00000338338.5_Intron|AURKAIP1_ENST00000378853.3_Intron|AURKAIP1_ENST00000321751.5_Intron			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1						negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCGGGCCGGGACTGGGGCGT	0.697																																																	0																																										SO:0001623	5_prime_UTR_variant	54998				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.-97C>T	1.37:g.1310233G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA36|Q8TBD3	RNA	SNP	-	NULL	ENST00000338370.3	37	NULL	CCDS25.1	1																																																																																			AURKAIP1	-	-		0.697	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	G	NM_017900		1310233	-1	no_errors	ENST00000496905	ensembl	human	known	70_37	rna	SNP	0.001	A
BPIFA1	51297	genome.wustl.edu	37	20	31825677	31825677	+	Splice_Site	SNP	G	G	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr20:31825677G>T	ENST00000354297.4	+	2	231	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	BPIFA1_ENST00000375413.4_Splice_Site_p.A54S|BPIFA1_ENST00000375422.2_Splice_Site_p.A54S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	54					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CTTGACAAATGGTGAGTTTTC	0.552																																																	0													75.0	70.0	72.0					20																	31825677		2203	4300	6503	SO:0001630	splice_region_variant	51297			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.160+1G>T	20.37:g.31825677G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A54S	ENST00000354297.4	37	c.160	CCDS13217.1	20	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859181	0.51376	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.13307	2.6;2.6;2.6	5.32	4.37	0.52481	.	0.312116	0.26907	N	0.021891	T	0.16938	0.0407	M	0.65498	2.005	0.27970	N	0.936444	P	0.42908	0.793	B	0.41374	0.355	T	0.08472	-1.0720	10	0.38643	T	0.18	-3.3173	10.1802	0.42963	0.0897:0.0:0.9103:0.0	.	54	Q9NP55	BPIA1_HUMAN	S	54;54;54;40	ENSP00000364571:A54S;ENSP00000346251:A54S;ENSP00000364562:A54S	ENSP00000346251:A54S	A	+	1	0	BPIFA1	31289338	0.995000	0.38212	0.838000	0.33150	0.081000	0.17604	2.713000	0.47194	1.630000	0.50440	0.655000	0.94253	GCC	BPIFA1	-	NULL		0.552	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA1	HGNC	protein_coding	OTTHUMT00000078667.2	G	NM_130852	Missense_Mutation	31825677	+1	no_errors	ENST00000354297	ensembl	human	known	70_37	missense	SNP	0.909	T
BPTF	2186	genome.wustl.edu	37	17	65888007	65888007	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:65888007C>G	ENST00000321892.4	+	7	2351	c.2290C>G	c.(2290-2292)Cct>Gct	p.P764A	BPTF_ENST00000424123.3_Missense_Mutation_p.P625A|BPTF_ENST00000335221.5_Missense_Mutation_p.P764A|BPTF_ENST00000306378.6_Missense_Mutation_p.P638A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	764					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGAATCTCCTGGAGCTGG	0.448																																																	0													73.0	71.0	72.0					17																	65888007		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2290C>G	17.37:g.65888007C>G	ENSP00000315454:p.Pro764Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P764A	ENST00000321892.4	37	c.2290		17	.	.	.	.	.	.	.	.	.	.	C	5.023	0.190021	0.09547	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.61510	0.12;0.1;0.11	5.25	5.25	0.73442	.	.	.	.	.	T	0.44746	0.1308	N	0.17082	0.46	0.27626	N	0.948182	B;P;P	0.47350	0.074;0.775;0.894	B;B;P	0.46718	0.016;0.313;0.525	T	0.17776	-1.0358	9	0.09338	T	0.73	-2.6651	12.5497	0.56220	0.0:0.9235:0.0:0.0765	.	764;638;764	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	669;638;764;764;562	ENSP00000307208:P638A;ENSP00000334351:P764A;ENSP00000315454:P764A	ENSP00000307208:P638A	P	+	1	0	BPTF	63318469	0.814000	0.29104	0.997000	0.53966	0.020000	0.10135	1.880000	0.39628	2.585000	0.87301	0.655000	0.94253	CCT	BPTF	-	NULL		0.448	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65888007	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.722	G
C1orf43	25912	genome.wustl.edu	37	1	154185146	154185146	+	Intron	DEL	T	T	-			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:154185146delT	ENST00000368521.5	-	5	539				C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368518.1_Intron|C1orf43_ENST00000368519.1_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43							integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TTCTTTAGTCtttttttttga	0.473																																																	0									,,	42,65,4117		0,0,42,1,63,2006	20.0	21.0	21.0		,,	-2.2	0.0	1		22	69,146,8019		0,1,68,1,143,3904	no	intron,intron,intron	C1orf43	NM_138740.2,NM_015449.2,NM_001098616.1	,,	0,1,110,2,206,5910	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6111,2.5331,2.5847	,,	,,	154185146	111,211,12136	2194	4299	6493	SO:0001627	intron_variant	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.341-46A>-	1.37:g.154185146delT		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	RNA	DEL	-	NULL	ENST00000368521.5	37	NULL	CCDS41404.1	1																																																																																			C1orf43	-	-		0.473	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	T	NM_015449		154185146	-1	no_errors	ENST00000493814	ensembl	human	known	70_37	rna	DEL	0.025	-
C2CD2	25966	genome.wustl.edu	37	21	43325861	43325861	+	Silent	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325861G>A	ENST00000380486.3	-	11	1645	c.1404C>T	c.(1402-1404)gtC>gtT	p.V468V	C2CD2_ENST00000329623.7_Silent_p.V313V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	468						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GTGTTTTGCTGACGGGGGCGC	0.547																																																	0													105.0	103.0	103.0					21																	43325861		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1404C>T	21.37:g.43325861G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.V468	ENST00000380486.3	37	c.1404	CCDS42933.1	21																																																																																			C2CD2	-	NULL		0.547	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325861	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	1.000	A
C2CD2	25966	genome.wustl.edu	37	21	43325882	43325882	+	Silent	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325882G>A	ENST00000380486.3	-	11	1624	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	C2CD2_ENST00000329623.7_Silent_p.I306I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	461						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCGGCAGGCGATGGCCTGGA	0.562																																																	0													100.0	95.0	97.0					21																	43325882		2203	4300	6503	SO:0001819	synonymous_variant	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1383C>T	21.37:g.43325882G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I461	ENST00000380486.3	37	c.1383	CCDS42933.1	21																																																																																			C2CD2	-	NULL		0.562	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325882	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	silent	SNP	0.328	A
C2CD2	25966	genome.wustl.edu	37	21	43325895	43325895	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:43325895G>A	ENST00000380486.3	-	11	1611	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S302F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	457						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGCCTGGACAGAGATGTCCTT	0.567																																																	0													105.0	97.0	100.0					21																	43325895		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1370C>T	21.37:g.43325895G>A	ENSP00000369853:p.Ser457Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S457F	ENST00000380486.3	37	c.1370	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687289	0.68157	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.77489	-1.1;-1.1	4.58	4.58	0.56647	.	0.112873	0.64402	D	0.000006	D	0.84862	0.5566	M	0.69823	2.125	0.46609	D	0.999124	D;D	0.76494	0.999;0.997	D;D	0.66602	0.945;0.945	D	0.85951	0.1464	10	0.72032	D	0.01	-13.9693	11.0331	0.47785	0.0912:0.0:0.9088:0.0	.	302;457	Q6P6D1;Q9Y426	.;CU025_HUMAN	F	302;457	ENSP00000329302:S302F;ENSP00000369853:S457F	ENSP00000329302:S302F	S	-	2	0	C2CD2	42198964	1.000000	0.71417	0.936000	0.37596	0.962000	0.63368	3.713000	0.54882	2.471000	0.83476	0.655000	0.94253	TCT	C2CD2	-	NULL		0.567	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	G	NM_015500		43325895	-1	no_errors	ENST00000380486	ensembl	human	known	70_37	missense	SNP	0.932	A
C3orf67	200844	genome.wustl.edu	37	3	58849304	58849304	+	Missense_Mutation	SNP	C	C	T	rs369398734		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr3:58849304C>T	ENST00000482387.1	-	8	1294	c.1198G>A	c.(1198-1200)Ggc>Agc	p.G400S	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.G400S|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.G307S			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGTCGCCGCCGTAAAAATCA	0.428																																																	0								C	SER/GLY	0,4406		0,0,2203	70.0	64.0	66.0		1198	0.6	0.0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf67	NM_198463.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	400/564	58849304	1,13005	2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1198G>A	3.37:g.58849304C>T	ENSP00000417122:p.Gly400Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.G400S	ENST00000482387.1	37	c.1198		3	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484593	0.12641	0.0	1.16E-4	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.47869	1.54;1.87;0.83	5.41	0.623	0.17654	.	0.340874	0.30011	N	0.010627	T	0.42720	0.1215	L	0.58810	1.83	0.18873	N	0.999988	D;P;D	0.59357	0.985;0.641;0.967	B;B;B	0.44133	0.225;0.065;0.442	T	0.39542	-0.9609	10	0.51188	T	0.08	-2.0645	10.0172	0.42022	0.0:0.6718:0.0:0.3281	.	307;400;400	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	S	400;400;105;307	ENSP00000295966:G400S;ENSP00000417122:G400S;ENSP00000417271:G307S	ENSP00000295966:G400S	G	-	1	0	C3orf67	58824344	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	0.556000	0.23438	-0.100000	0.12241	-0.742000	0.03525	GGC	C3orf67	-	NULL		0.428	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58849304	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.028	T
CACNA1B	774	genome.wustl.edu	37	9	140901276	140901276	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:140901276G>A	ENST00000371372.1	+	16	2177	c.2032G>A	c.(2032-2034)Ggc>Agc	p.G678S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.G678S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G679S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G678S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G679S|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	678					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCGCAAGGCGGCGTCAGCAA	0.567																																																	0													155.0	155.0	155.0					9																	140901276		2144	4257	6401	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2032G>A	9.37:g.140901276G>A	ENSP00000360423:p.Gly678Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.G679S	ENST00000371372.1	37	c.2035	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299970	0.81136	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.96967	-4.18;-4.19;-4.17;-4.16;-4.16	4.39	4.39	0.52855	.	0.118515	0.56097	D	0.000024	D	0.97504	0.9183	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98225	1.0480	10	0.66056	D	0.02	.	16.097	0.81132	0.0:0.0:1.0:0.0	.	678;678	B1AQK4;B1AQK6	.;.	S	678;678;678;679;679	ENSP00000360423:G678S;ENSP00000277551:G678S;ENSP00000360414:G678S;ENSP00000360408:G679S;ENSP00000360406:G679S	ENSP00000277551:G678S	G	+	1	0	CACNA1B	140021097	1.000000	0.71417	0.988000	0.46212	0.920000	0.55202	9.217000	0.95160	2.156000	0.67533	0.491000	0.48974	GGC	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140901276	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	A
CNOT1	23019	genome.wustl.edu	37	16	58622718	58622718	+	Silent	SNP	G	G	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr16:58622718G>C	ENST00000317147.5	-	3	527	c.195C>G	c.(193-195)ggC>ggG	p.G65G	CNOT1_ENST00000569240.1_Silent_p.G65G|CNOT1_ENST00000441024.2_Silent_p.G65G	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	65					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAAATCTTTGCCACTGCTTT	0.423																																																	0													84.0	71.0	75.0					16																	58622718		2198	4300	6498	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.195C>G	16.37:g.58622718G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.G65	ENST00000317147.5	37	c.195	CCDS10799.1	16																																																																																			CNOT1	-	NULL		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	G	NM_016284		58622718	-1	no_errors	ENST00000317147	ensembl	human	known	70_37	silent	SNP	1.000	C
COL7A1	1294	genome.wustl.edu	37	3	48626419	48626419	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr3:48626419G>T	ENST00000328333.8	-	18	2431	c.2324C>A	c.(2323-2325)cCt>cAt	p.P775H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P775H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	775	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACGACCCACAGGCTCAGGGGC	0.587																																																	0													70.0	70.0	70.0					3																	48626419		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2324C>A	3.37:g.48626419G>T	ENSP00000332371:p.Pro775His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P775H	ENST00000328333.8	37	c.2324	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286814	0.23478	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.89485	-2.52;-2.52	5.08	3.08	0.35506	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.430293	0.16955	N	0.192707	T	0.79730	0.4496	L	0.31065	0.9	0.30919	N	0.728234	B	0.21821	0.061	B	0.18263	0.021	T	0.71394	-0.4606	10	0.21540	T	0.41	.	7.698	0.28606	0.0:0.1807:0.6326:0.1867	.	775	Q02388	CO7A1_HUMAN	H	775	ENSP00000332371:P775H;ENSP00000412569:P775H	ENSP00000332371:P775H	P	-	2	0	COL7A1	48601423	0.922000	0.31269	0.428000	0.26697	0.913000	0.54294	1.194000	0.32174	1.216000	0.43427	0.462000	0.41574	CCT	COL7A1	-	pfscan_Fibronectin_type3		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48626419	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.857	T
CPSF3L	54973	genome.wustl.edu	37	1	1255873	1255873	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:1255873C>T	ENST00000435064.1	-	3	245	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000450926.2_Missense_Mutation_p.G55S|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Missense_Mutation_p.G61S|CPSF3L_ENST00000545578.1_Missense_Mutation_p.G26S|CPSF3L_ENST00000411962.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	55					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GTTAGGCGGCCGTTCTGGGTG	0.592																																																	0													183.0	183.0	183.0					1																	1255873		2203	4300	6503	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.163G>A	1.37:g.1255873C>T	ENSP00000413493:p.Gly55Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.G61S	ENST00000435064.1	37	c.181	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.947375	0.73672	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.73	4.73	0.59995	Beta-lactamase-like (2);	0.112312	0.64402	D	0.000011	D	0.86806	0.6021	M	0.75264	2.295	0.80722	D	1	P;D;D;P	0.65815	0.945;0.995;0.973;0.955	P;D;P;P	0.63283	0.606;0.913;0.606;0.727	D	0.84074	0.0381	10	0.08179	T	0.78	-37.3679	17.7038	0.88303	0.0:1.0:0.0:0.0	.	55;74;61;55	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	S	55;67;61;55;26;55;61;102;56;115	ENSP00000413493:G55S;ENSP00000445001:G61S;ENSP00000392848:G55S;ENSP00000444672:G26S;ENSP00000411233:G55S;ENSP00000436743:G61S;ENSP00000432009:G102S;ENSP00000435772:G56S;ENSP00000436824:G115S	ENSP00000294579:G67S	G	-	1	0	CPSF3L	1245736	1.000000	0.71417	0.925000	0.36789	0.166000	0.22503	7.576000	0.82467	2.153000	0.67306	0.651000	0.88453	GGC	CPSF3L	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.592	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	C	NM_017871		1255873	-1	no_errors	ENST00000540437	ensembl	human	known	70_37	missense	SNP	1.000	T
DEDD	9191	genome.wustl.edu	37	1	161091814	161091815	+	3'UTR	INS	-	-	A	rs34197267|rs397804763|rs369539156		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:161091814_161091815insA	ENST00000368006.3	-	0	1293_1294				DEDD_ENST00000490843.2_3'UTR|DEDD_ENST00000458050.2_3'UTR|DEDD_ENST00000545495.1_3'UTR|DEDD_ENST00000392188.1_3'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Intron	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTTTTTCTTTAAAAAAAAAAA	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*123->T	1.37:g.161091825_161091825dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVF5|O60737	RNA	INS	-	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			DEDD	-	-		0.470	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	-	NM_004216		161091815	-1	no_errors	ENST00000486041	ensembl	human	known	70_37	rna	INS	0.993:1.000	A
DOLK	22845	genome.wustl.edu	37	9	131708402	131708402	+	Missense_Mutation	SNP	A	A	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:131708402A>T	ENST00000372586.3	-	1	1496	c.1181T>A	c.(1180-1182)cTt>cAt	p.L394H	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	394					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						ATCCAGAAAAAGGGACAGGAA	0.547																																																	0													110.0	107.0	108.0					9																	131708402		2203	4300	6503	SO:0001583	missense	22845			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1181T>A	9.37:g.131708402A>T	ENSP00000361667:p.Leu394His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SRE6	Missense_Mutation	SNP	NULL	p.L394H	ENST00000372586.3	37	c.1181	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498631	0.64298	.	.	ENSG00000175283	ENST00000372586	T	0.50548	0.74	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000007	T	0.61640	0.2363	L	0.48362	1.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.64782	-0.6326	10	0.72032	D	0.01	-20.1235	14.2247	0.65850	1.0:0.0:0.0:0.0	.	394	Q9UPQ8	DOLK_HUMAN	H	394	ENSP00000361667:L394H	ENSP00000361667:L394H	L	-	2	0	DOLK	130748223	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.905000	0.92613	2.006000	0.58801	0.379000	0.24179	CTT	DOLK	-	NULL		0.547	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	A	NM_014908		131708402	-1	no_errors	ENST00000372586	ensembl	human	known	70_37	missense	SNP	1.000	T
DYRK4	8798	genome.wustl.edu	37	12	4682315	4682315	+	3'UTR	SNP	G	G	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr12:4682315G>C	ENST00000539490.1	+	0	398							Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACTCGAACTAGAAGAACTTGT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	8798			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000539490.1:c.*395G>C	12.37:g.4682315G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8F7|Q8NEF2|Q92631	RNA	SNP	-	NULL	ENST00000539490.1	37	NULL		12																																																																																			DYRK4	-	-		0.338	DYRK4-010	KNOWN	basic	processed_transcript	DYRK4	HGNC	protein_coding	OTTHUMT00000398779.1	G			4682315	+1	no_errors	ENST00000539490	ensembl	human	known	70_37	rna	SNP	0.041	C
SPDYE1	285955	genome.wustl.edu	37	7	44043737	44043737	+	Intron	SNP	C	C	T	rs374617715		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr7:44043737C>T	ENST00000258704.3	+	3	683				AC004951.6_ENST00000447643.1_lincRNA|RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1											endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						tgggttcaagcgattctcctg	0.507																																																	0																																										SO:0001627	intron_variant	0			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.546+227C>T	7.37:g.44043737C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTH5	RNA	SNP	-	NULL	ENST00000258704.3	37	NULL	CCDS5475.1	7																																																																																			AC004951.6	-	-		0.507	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228434	Clone_based_vega_gene	protein_coding	OTTHUMT00000250974.1	C	NM_175064		44043737	-1	no_errors	ENST00000447643	ensembl	human	known	70_37	rna	SNP	0.072	T
LRRC28	123355	genome.wustl.edu	37	15	99797869	99797869	+	Intron	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr15:99797869G>A	ENST00000301981.3	+	2	408				LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000422500.2_Intron|AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28											endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CCTCTGCTGCGTCCTGCTGAC	0.567																																																	0																																										SO:0001627	intron_variant	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.168+1539G>A	15.37:g.99797869G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	RNA	SNP	-	NULL	ENST00000301981.3	37	NULL	CCDS10380.1	15																																																																																			AC022819.1	-	-		0.567	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264771	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000313546.1	G	NM_144598		99797869	+1	no_errors	ENST00000581052	ensembl	human	novel	70_37	rna	SNP	0.637	A
UCKL1	54963	genome.wustl.edu	37	20	62585129	62585129	+	Intron	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr20:62585129C>T	ENST00000354216.6	-	1	156				AL118506.1_ENST00000595604.1_Silent_p.C41C|UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000369908.5_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATCCACAATGCCAAGGAAACC	0.527																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2483G>A	20.37:g.62585129C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	NULL	p.C41	ENST00000354216.6	37	c.123	CCDS13547.1	20																																																																																			AL118506.1	-	NULL		0.527	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1	C	NM_017859		62585129	+1	no_errors	ENST00000595604	ensembl	human	known	70_37	silent	SNP	0.000	T
GSN	2934	genome.wustl.edu	37	9	124074856	124074857	+	Intron	INS	-	-	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:124074856_124074857insA	ENST00000373818.4	+	5	885				GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373807.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGAATTTGAGGAAAAAAAAAAA	0.426																																																	0																																										SO:0001627	intron_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.816+90->A	9.37:g.124074867_124074867dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	INS	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-		0.426	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	NM_000177		124074857	+1	no_errors	ENST00000485767	ensembl	human	known	70_37	rna	INS	0.003:0.000	A
HNRNPR	10236	genome.wustl.edu	37	1	23640111	23640111	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:23640111C>T	ENST00000374612.1	-	9	1225	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000374616.3_Missense_Mutation_p.E371K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E330K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E208K|HNRNPR_ENST00000302271.6_Missense_Mutation_p.E368K|HNRNPR_ENST00000478691.1_Missense_Mutation_p.E270K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E229K	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	368	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACTCTTTCGAGTTTTCCA	0.323																																																	0													71.0	76.0	74.0					1																	23640111		2201	4297	6498	SO:0001583	missense	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1102G>A	1.37:g.23640111C>T	ENSP00000363741:p.Glu368Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E371K	ENST00000374612.1	37	c.1111	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.848777	0.97023	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	N	0.16708	0.43	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.996;0.999	D;D;D;D;D;D	0.87578	0.983;0.998;0.998;0.952;0.934;0.963	T	0.09058	-1.0692	10	0.87932	D	0	.	18.7377	0.91761	0.0:1.0:0.0:0.0	.	208;330;229;348;368;371	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	K	371;368;368;330;208	ENSP00000363745:E371K;ENSP00000363741:E368K;ENSP00000304405:E368K;ENSP00000392799:E330K;ENSP00000415042:E208K	ENSP00000304405:E368K	E	-	1	0	HNRNPR	23512698	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.082000	0.71318	2.774000	0.95407	0.585000	0.79938	GAA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.323	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	C	NM_005826		23640111	-1	no_errors	ENST00000374616	ensembl	human	known	70_37	missense	SNP	1.000	T
HRC	3270	genome.wustl.edu	37	19	49656716	49656716	+	Missense_Mutation	SNP	C	C	A	rs150390369		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr19:49656716C>A	ENST00000252825.4	-	1	1965	c.1779G>T	c.(1777-1779)agG>agT	p.R593S	HRC_ENST00000595625.1_Missense_Mutation_p.R593S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	593					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCTCTCTCCTGTCCAGTG	0.642																																					Melanoma(37;75 1097 24567 25669 30645)												0													54.0	48.0	50.0					19																	49656716		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1779G>T	19.37:g.49656716C>A	ENSP00000252825:p.Arg593Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.R593S	ENST00000252825.4	37	c.1779	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	0.402	-0.917639	0.02396	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.41400	1.0	2.87	-0.888	0.10583	.	.	.	.	.	T	0.23806	0.0576	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.09590	T	0.72	3.6151	3.3909	0.07289	0.4486:0.4141:0.0:0.1372	.	593	P23327	SRCH_HUMAN	S	593;283	ENSP00000252825:R593S	ENSP00000252825:R593S	R	-	3	2	HRC	54348528	0.001000	0.12720	0.023000	0.16930	0.149000	0.21700	-0.187000	0.09656	-0.065000	0.13021	-0.253000	0.11424	AGG	HRC	-	NULL		0.642	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49656716	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.084	A
HRC	3270	genome.wustl.edu	37	19	49657150	49657150	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr19:49657150C>G	ENST00000252825.4	-	1	1531	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	HRC_ENST00000595625.1_Missense_Mutation_p.E449Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	449					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCCAGTTTCTTCATCTTGG	0.552																																					Melanoma(37;75 1097 24567 25669 30645)												0													127.0	112.0	117.0					19																	49657150		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1345G>C	19.37:g.49657150C>G	ENSP00000252825:p.Glu449Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E449Q	ENST00000252825.4	37	c.1345	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469597	0.04445	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.47528	0.84	3.18	0.886	0.19194	.	.	.	.	.	T	0.24851	0.0603	N	0.22421	0.69	0.09310	N	1	B	0.33073	0.396	B	0.26202	0.067	T	0.12863	-1.0531	9	0.21540	T	0.41	-0.7327	3.8175	0.08821	0.238:0.6239:0.0:0.138	.	449	P23327	SRCH_HUMAN	Q	449;148;419	ENSP00000252825:E449Q	ENSP00000252825:E449Q	E	-	1	0	HRC	54348962	0.000000	0.05858	0.016000	0.15963	0.050000	0.14768	0.230000	0.17852	0.027000	0.15297	0.462000	0.41574	GAA	HRC	-	NULL		0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657150	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.123	G
IARS	3376	genome.wustl.edu	37	9	95002909	95002909	+	Intron	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:95002909C>G	ENST00000375643.3	-	30	3550				IARS_ENST00000443024.2_Intron|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Intron|IARS_ENST00000375627.1_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ctcttggcctcaagcaatcct	0.413																																																	0																																										SO:0001627	intron_variant	3376			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3283+228G>C	9.37:g.95002909C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	RNA	SNP	-	NULL	ENST00000375643.3	37	NULL	CCDS6694.1	9																																																																																			IARS	-	-		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	C	NM_002161		95002909	-1	no_errors	ENST00000474340	ensembl	human	known	70_37	rna	SNP	0.219	G
IL12RB2	3595	genome.wustl.edu	37	1	67861460	67861460	+	Silent	SNP	G	G	A	rs553975974	byFrequency	TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:67861460G>A	ENST00000262345.1	+	16	2917	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	IL12RB2_ENST00000544434.1_Silent_p.E673E|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	759					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCCAAGCTGAGAGCAGACAAC	0.577																																																	0													97.0	92.0	93.0					1																	67861460		2203	4300	6503	SO:0001819	synonymous_variant	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2277G>A	1.37:g.67861460G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E759	ENST00000262345.1	37	c.2277	CCDS638.1	1																																																																																			IL12RB2	-	NULL		0.577	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	G	NM_001559		67861460	+1	no_errors	ENST00000262345	ensembl	human	known	70_37	silent	SNP	0.055	A
KIAA1324	57535	genome.wustl.edu	37	1	109707183	109707183	+	Missense_Mutation	SNP	G	G	C	rs202054557		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:109707183G>C	ENST00000369939.3	+	3	520	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E113Q	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	113					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCATGCGCTGAGGGCCGCTA	0.582																																																	0													125.0	118.0	120.0					1																	109707183		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.337G>C	1.37:g.109707183G>C	ENSP00000358955:p.Glu113Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E113Q	ENST00000369939.3	37	c.337	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426194	0.62733	.	.	ENSG00000116299	ENST00000531664;ENST00000534476;ENST00000526264;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.48;1.48;1.48	6.04	4.95	0.65309	.	0.278041	0.40728	N	0.001038	T	0.16557	0.0398	N	0.20685	0.6	0.23204	N	0.998123	B;B;B;B	0.32573	0.376;0.302;0.376;0.376	B;B;B;B	0.35607	0.168;0.165;0.146;0.206	T	0.08911	-1.0699	10	0.23891	T	0.37	-14.953	15.9284	0.79639	0.0757:0.0:0.9243:0.0	.	113;113;113;113	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	Q	113	ENSP00000431349:E113Q;ENSP00000432164:E113Q;ENSP00000435066:E113Q;ENSP00000358955:E113Q;ENSP00000393964:E113Q;ENSP00000434595:E113Q	ENSP00000358955:E113Q	E	+	1	0	KIAA1324	109508706	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	6.617000	0.74210	2.873000	0.98535	0.561000	0.74099	GAG	KIAA1324	-	superfamily_Growth_fac_rcpt		0.582	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109707183	+1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	0.993	C
CADM3	57863	genome.wustl.edu	37	1	159166613	159166613	+	Intron	DEL	T	T	-	rs533935187		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:159166613delT	ENST00000368125.4	+	7	939				CADM3_ENST00000368124.4_Intron|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTCCCAGTTATTTTTTTTTTT	0.527											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	100131825			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-68T>-	1.37:g.159166613delT		Somatic	1799	WXS	Illumina HiSeq	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	DEL	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			CTA-134P22.2	-	-		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	Clone_based_vega_gene	protein_coding	OTTHUMT00000090330.1	T	NM_021189		159166613	-1	no_errors	ENST00000415675	ensembl	human	known	70_37	rna	DEL	0.000	-
IBA57	200205	genome.wustl.edu	37	1	228363051	228363051	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:228363051C>T	ENST00000366711.3	+	3	910	c.908C>T	c.(907-909)tCa>tTa	p.S303L	IBA57_ENST00000546123.1_Missense_Mutation_p.S110L|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	303					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGACTGCCTCAGGACAGACT	0.632																																																	0													53.0	52.0	52.0					1																	228363051		2203	4300	6503	SO:0001583	missense	200205			AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.908C>T	1.37:g.228363051C>T	ENSP00000355672:p.Ser303Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS	p.S303L	ENST00000366711.3	37	c.908	CCDS31046.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398560	0.42512	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.77229	-1.08;-1.08	5.07	4.15	0.48705	Glycine cleavage T-protein, C-terminal barrel (1);	0.597239	0.17253	N	0.181063	T	0.78817	0.4343	M	0.74546	2.27	0.09310	N	1	B	0.17038	0.02	B	0.24701	0.055	T	0.70876	-0.4753	10	0.51188	T	0.08	-7.384	14.9537	0.71094	0.1441:0.8559:0.0:0.0	.	303	Q5T440	CAF17_HUMAN	L	303;110	ENSP00000355672:S303L;ENSP00000437347:S110L	ENSP00000355672:S303L	S	+	2	0	IBA57	226429674	0.164000	0.22935	0.006000	0.13384	0.002000	0.02628	4.252000	0.58785	1.346000	0.45694	-0.188000	0.12872	TCA	IBA57	-	pfam_GCV_T_C		0.632	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBA57	HGNC	protein_coding	OTTHUMT00000095980.1	C	NM_001010867		228363051	+1	no_errors	ENST00000366711	ensembl	human	known	70_37	missense	SNP	0.007	T
LOC100996415	100996415	genome.wustl.edu	37	22	20342166	20342166	+	RNA	SNP	T	T	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr22:20342166T>C	ENST00000454636.1	+	0	859				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						ACGAGGACGCTGCCCACGGCA	0.617																																																	0																																												729444																															22.37:g.20342166T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			XXbac-B33L19.3	-	-		0.617	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC729444	Clone_based_vega_gene	antisense	OTTHUMT00000319010.2	T			20342166	+1	no_errors	ENST00000454636	ensembl	human	known	70_37	rna	SNP	0.009	C
FAM230B	642633	genome.wustl.edu	37	22	21538079	21538079	+	RNA	SNP	A	A	G	rs62240903		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr22:21538079A>G	ENST00000451257.1	+	0	1065									family with sequence similarity 230, member B (non-protein coding)																		GGCATCGCCAACGAGGACGCC	0.746																																																	0																																												642633			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538079A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			KB-1183D5.11	-	-		0.746	FAM230B-002	KNOWN	basic	lincRNA	LOC642633	Clone_based_vega_gene	processed_transcript	OTTHUMT00000320063.1	A	NR_108107		21538079	+1	no_errors	ENST00000451257	ensembl	human	known	70_37	rna	SNP	0.000	G
LRP12	29967	genome.wustl.edu	37	8	105502451	105502452	+	3'UTR	INS	-	-	T	rs398009193|rs34015353|rs140959749	byFrequency	TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr8:105502451_105502452insT	ENST00000276654.5	-	0	3137_3138				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGTATAAGGGTTTTTTTTTTG	0.277													|||unknown(HR)	283	0.0565096	0.0696	0.0418	5008	,	,		16738	0.0188		0.0755	False		,,,				2504	0.0685																0																																										SO:0001624	3_prime_UTR_variant	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*450->A	8.37:g.105502461_105502461dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K137|B4DRQ2	RNA	INS	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-		0.277	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	NM_013437		105502452	-1	no_errors	ENST00000518375	ensembl	human	putative	70_37	rna	INS	0.000:0.000	T
LTN1	26046	genome.wustl.edu	37	21	30357145	30357145	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr21:30357145C>T	ENST00000361371.5	-	4	523	c.444G>A	c.(442-444)atG>atA	p.M148I	LTN1_ENST00000389194.2_Missense_Mutation_p.M194I|LTN1_ENST00000389195.2_Missense_Mutation_p.M194I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	148					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCCAATATCCCATTAAACTTT	0.433																																																	0													106.0	104.0	105.0					21																	30357145		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.444G>A	21.37:g.30357145C>T	ENSP00000354977:p.Met148Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.M148I	ENST00000361371.5	37	c.444		21	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396760	0.83120	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.62788	3.67;3.67;0.0	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.66196	0.942	T	0.66964	-0.5790	10	0.18276	T	0.48	.	19.3304	0.94283	0.0:1.0:0.0:0.0	.	148	O94822	LTN1_HUMAN	I	194;148;150;194	ENSP00000373846:M194I;ENSP00000354977:M148I;ENSP00000373847:M194I	ENSP00000354977:M148I	M	-	3	0	LTN1	29279016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.805000	0.96524	0.460000	0.39030	ATG	LTN1	-	superfamily_ARM-type_fold		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	C	NM_015565		30357145	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	1.000	T
LY96	23643	genome.wustl.edu	37	8	74939045	74939045	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr8:74939045C>T	ENST00000284818.2	+	4	444	c.353C>T	c.(352-354)tCa>tTa	p.S118L	LY96_ENST00000518893.1_Missense_Mutation_p.S88L	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	118					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ACAACAATATCATTCTCCTTC	0.308																																					GBM(131;1357 1748 34893 50149 52212)												0													85.0	82.0	83.0					8																	74939045		2203	4298	6501	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.353C>T	8.37:g.74939045C>T	ENSP00000284818:p.Ser118Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y6A5|E5RJJ7	Missense_Mutation	SNP	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog	p.S118L	ENST00000284818.2	37	c.353	CCDS6216.1	8	.	.	.	.	.	.	.	.	.	.	C	2.626	-0.287394	0.05605	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.49432	0.78;0.78	3.64	-1.8	0.07907	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	1.041270	0.07581	N	0.920262	T	0.36936	0.0985	L	0.44542	1.39	0.09310	N	1	B	0.29378	0.243	B	0.24701	0.055	T	0.36962	-0.9726	10	0.87932	D	0	9.4925	7.7333	0.28799	0.2971:0.2661:0.4368:0.0	.	118	Q9Y6Y9	LY96_HUMAN	L	118;88	ENSP00000284818:S118L;ENSP00000430533:S88L	ENSP00000284818:S118L	S	+	2	0	LY96	75101599	0.002000	0.14202	0.012000	0.15200	0.001000	0.01503	-0.195000	0.09546	-0.390000	0.07774	-0.181000	0.13052	TCA	LY96	-	pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog		0.308	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY96	HGNC	protein_coding	OTTHUMT00000379032.2	C	NM_015364		74939045	+1	no_errors	ENST00000284818	ensembl	human	known	70_37	missense	SNP	0.014	T
NTNG2	84628	genome.wustl.edu	37	9	135102404	135102404	+	Silent	SNP	C	C	T	rs201475380		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:135102404C>T	ENST00000393229.3	+	4	1802	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	NTNG2_ENST00000360670.3_Silent_p.N342N|NTNG2_ENST00000393228.4_Silent_p.N342N|NTNG2_ENST00000372179.3_Silent_p.N342N	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	342	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCTCTCCCAACGCCTGTACGT	0.637																																																	0													25.0	24.0	24.0					9																	135102404		2203	4298	6501	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1026C>T	9.37:g.135102404C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.N342	ENST00000393229.3	37	c.1026	CCDS6946.1	9																																																																																			NTNG2	-	smart_EGF_laminin		0.637	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135102404	+1	no_errors	ENST00000360670	ensembl	human	known	70_37	silent	SNP	0.963	T
OPA1	4976	genome.wustl.edu	37	3	193336468	193336469	+	Intron	INS	-	-	T	rs145678823|rs576969867	byFrequency	TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr3:193336468_193336469insT	ENST00000392438.3	+	5	790				OPA1_ENST00000361908.3_Intron|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361828.2_Intron|OPA1_ENST00000361150.2_Intron|OPA1_ENST00000487986.1_Intron|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361510.2_Intron	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GCTATAGTTAGTTTTTTTTTTA	0.257													|||unknown(HR)	40	0.00798722	0.0098	0.0029	5008	,	,		16074	0.0099		0.003	False		,,,				2504	0.0123																0																																										SO:0001627	intron_variant	100873941			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.557-189->T	3.37:g.193336478_193336478dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNW4	RNA	INS	-	NULL	ENST00000392438.3	37	NULL	CCDS43186.1	3																																																																																			OPA1-AS1	-	-		0.257	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1-AS1	HGNC	protein_coding	OTTHUMT00000313812.2	-	NM_130837		193336469	-1	no_errors	ENST00000433105	ensembl	human	known	70_37	rna	INS	0.012:0.000	T
PANX3	116337	genome.wustl.edu	37	11	124489214	124489214	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr11:124489214G>A	ENST00000284288.2	+	4	629	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	188					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACGATACTTTGAATTCCCTTT	0.493																																																	0													133.0	107.0	116.0					11																	124489214		2201	4299	6500	SO:0001583	missense	116337			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.562G>A	11.37:g.124489214G>A	ENSP00000284288:p.Glu188Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.E188K	ENST00000284288.2	37	c.562	CCDS8447.1	11	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283567	0.59867	.	.	ENSG00000154143	ENST00000284288	T	0.16743	2.32	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.28344	0.845	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.01460	-1.1349	10	0.02654	T	1	-12.6804	18.5796	0.91166	0.0:0.0:1.0:0.0	.	188	Q96QZ0	PANX3_HUMAN	K	188	ENSP00000284288:E188K	ENSP00000284288:E188K	E	+	1	0	PANX3	123994424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.234000	0.95347	2.401000	0.81631	0.561000	0.74099	GAA	PANX3	-	pfam_Innexin,pfscan_Innexin		0.493	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	G			124489214	+1	no_errors	ENST00000284288	ensembl	human	known	70_37	missense	SNP	1.000	A
PIM2	11040	genome.wustl.edu	37	X	48772318	48772318	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chrX:48772318C>G	ENST00000376509.4	-	4	763	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GTGTAGGGTTCATCATGAAGC	0.488																																																	0													59.0	47.0	51.0					X																	48772318		2203	4300	6503	SO:0001583	missense	11040			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.574G>C	X.37:g.48772318C>G	ENSP00000365692:p.Glu192Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E192Q	ENST00000376509.4	37	c.574	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362583	0.24684	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.14516	2.5;2.5	5.6	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218593	0.38492	N	0.001668	T	0.09730	0.0239	L	0.33189	0.99	0.30581	N	0.762492	B	0.28760	0.221	B	0.23018	0.043	T	0.04650	-1.0936	10	0.51188	T	0.08	.	7.4371	0.27162	0.1688:0.7418:0.0:0.0895	.	192	Q9P1W9	PIM2_HUMAN	Q	192;80	ENSP00000365692:E192Q;ENSP00000410960:E80Q	ENSP00000365692:E192Q	E	-	1	0	PIM2	48657262	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	0.949000	0.29109	2.343000	0.79666	0.600000	0.82982	GAA	PIM2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.488	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	C			48772318	-1	no_errors	ENST00000376509	ensembl	human	known	70_37	missense	SNP	0.997	G
PNLIPRP2	5408	genome.wustl.edu	37	10	118404588	118404588	+	RNA	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr10:118404588C>T	ENST00000298771.7	+	0	1415				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAACGTCTTGCAATCTCTTTA	0.408																																																	0													94.0	93.0	93.0					10																	118404588		1883	4116	5999			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118404588C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K627|Q6IB55	Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.Q463*	ENST00000298771.7	37	c.1387		10	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432344	0.83776	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.21802	N	0.999536	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	15.8227	0.78673	0.0:1.0:0.0:0.0	.	.	.	.	X	463	.	ENSP00000446346:Q463X	Q	+	1	0	PNLIPRP2	118394578	0.535000	0.26370	0.050000	0.19076	0.410000	0.31052	4.041000	0.57339	2.472000	0.83506	0.650000	0.86243	CAA	PNLIPRP2	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc		0.408	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	C	NM_005396		118404588	+1	no_errors	ENST00000537242	ensembl	human	known	70_37	nonsense	SNP	0.391	T
PPP1R21	129285	genome.wustl.edu	37	2	48725635	48725635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr2:48725635C>T	ENST00000294952.8	+	17	1853	c.1696C>T	c.(1696-1698)Caa>Taa	p.Q566*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q566*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q535*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	566						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTTCAAGGTTCAACAGAGTTT	0.368																																																	0													53.0	55.0	54.0					2																	48725635		2203	4300	6503	SO:0001587	stop_gained	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1696C>T	2.37:g.48725635C>T	ENSP00000294952:p.Gln566*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like	p.Q566*	ENST00000294952.8	37	c.1696	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.594615	0.96602	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	5.87	0.94306	.	0.053255	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3917	20.2182	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	566;566;535	.	ENSP00000281394:Q566X	Q	+	1	0	KLRAQ1	48579139	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.555000	0.73928	2.785000	0.95823	0.655000	0.94253	CAA	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C		0.368	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48725635	+1	no_errors	ENST00000294952	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PRDM9	56979	genome.wustl.edu	37	5	23526850	23526850	+	Silent	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:23526850C>G	ENST00000296682.3	+	11	1835	c.1653C>G	c.(1651-1653)ctC>ctG	p.L551L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCTCTACGTCTGCA	0.488										HNSCC(3;0.000094)																																							0													86.0	92.0	90.0					5																	23526850		2170	4292	6462	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1653C>G	5.37:g.23526850C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX22|Q27Q50	Silent	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L551	ENST00000296682.3	37	c.1653	CCDS43307.1	5																																																																																			PRDM9	-	pfscan_Znf_C2H2		0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	C	NM_020227		23526850	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	silent	SNP	0.733	G
PTPRD	5789	genome.wustl.edu	37	9	8486257	8486257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:8486257G>A	ENST00000381196.4	-	25	3103	c.2560C>T	c.(2560-2562)Cag>Tag	p.Q854*	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q854*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q854*|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q841*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q832*|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	854	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGGTAGCCCTGAAGAGGTCCA	0.468										TSP Lung(15;0.13)																																							0													71.0	73.0	72.0					9																	8486257		2203	4300	6503	SO:0001587	stop_gained	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2560C>T	9.37:g.8486257G>A	ENSP00000370593:p.Gln854*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q854*	ENST00000381196.4	37	c.2560	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.201651	0.98704	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	.	.	.	5.93	5.93	0.95920	.	0.205916	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1109	0.72355	0.0:0.0:0.8586:0.1414	.	.	.	.	X	854;854;841;832;854	.	.	Q	-	1	0	PTPRD	8476257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.507000	0.66999	2.826000	0.97356	0.655000	0.94253	CAG	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8486257	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SEC14L1	6397	genome.wustl.edu	37	17	75186956	75186956	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:75186956C>G	ENST00000413679.2	+	4	438	c.135C>G	c.(133-135)ttC>ttG	p.F45L	SEC14L1_ENST00000430767.4_Missense_Mutation_p.F45L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.F45L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.F11L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.F11L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.F45L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.F45L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.F45L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	45	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGAATGAATTCAAGAGCGAAG	0.453																																																	0													102.0	94.0	96.0					17																	75186956		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.135C>G	17.37:g.75186956C>G	ENSP00000394716:p.Phe45Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.F45L	ENST00000413679.2	37	c.135	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145905	0.21288	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.07	-1.27	0.09347	PRELI/MSF1 (2);	0.233989	0.44285	D	0.000469	T	0.09247	0.0228	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.13594	0.007;0.008	B;B	0.19946	0.016;0.027	T	0.39231	-0.9624	10	0.13853	T	0.58	-38.9713	10.6739	0.45774	0.0:0.4755:0.0:0.5245	.	45;45	Q92503-2;Q92503	.;S14L1_HUMAN	L	45;45;45;45;45;11	ENSP00000376268:F45L;ENSP00000406030:F45L;ENSP00000390392:F45L;ENSP00000408169:F45L;ENSP00000394716:F45L;ENSP00000389838:F11L	ENSP00000376268:F45L	F	+	3	2	SEC14L1	72698551	0.029000	0.19370	0.914000	0.36105	0.982000	0.71751	-0.308000	0.08156	-0.017000	0.14103	0.591000	0.81541	TTC	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.453	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	C	NM_003003		75186956	+1	no_errors	ENST00000392476	ensembl	human	known	70_37	missense	SNP	0.045	G
SGSM1	129049	genome.wustl.edu	37	22	25282579	25282579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr22:25282579C>T	ENST00000400359.4	+	17	1826	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*	SGSM1_ENST00000400358.4_Nonsense_Mutation_p.Q552*	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	607						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTACGAGGAGCAGGAGCTGCT	0.582																																																	0													25.0	26.0	26.0					22																	25282579		1929	4067	5996	SO:0001587	stop_gained	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1819C>T	22.37:g.25282579C>T	ENSP00000383212:p.Gln607*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Nonsense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.Q607*	ENST00000400359.4	37	c.1819	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839494	0.91117	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	.	.	.	5.73	4.66	0.58398	.	0.299368	0.39475	N	0.001349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-19.1296	15.9251	0.79609	0.1349:0.8651:0.0:0.0	.	.	.	.	X	668;552;607	.	ENSP00000383211:Q552X	Q	+	1	0	SGSM1	23612579	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.376000	0.44292	2.882000	0.98803	0.655000	0.94253	CAG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom		0.582	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25282579	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	nonsense	SNP	0.999	T
SPATA31D5P	347127	genome.wustl.edu	37	9	84532425	84532425	+	RNA	SNP	G	G	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr9:84532425G>C	ENST00000527857.1	+	0	2447					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GTCTAACTCTGAGAGAGACCT	0.468																																																	0																																												347127					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532425G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-		0.468	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	G	NR_026851		84532425	+1	no_errors	ENST00000527857	ensembl	human	known	70_37	rna	SNP	0.003	C
SPEN	23013	genome.wustl.edu	37	1	16262320	16262320	+	Silent	SNP	G	G	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:16262320G>C	ENST00000375759.3	+	11	9789	c.9585G>C	c.(9583-9585)gtG>gtC	p.V3195V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3195					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACGGGATGTGAGGATCATGG	0.617																																																	0													75.0	68.0	70.0					1																	16262320		2203	4300	6503	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9585G>C	1.37:g.16262320G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V3195	ENST00000375759.3	37	c.9585	CCDS164.1	1																																																																																			SPEN	-	NULL		0.617	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16262320	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	silent	SNP	0.789	C
SPEN	23013	genome.wustl.edu	37	1	16262663	16262663	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:16262663G>A	ENST00000375759.3	+	11	10132	c.9928G>A	c.(9928-9930)Gac>Aac	p.D3310N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3310	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGTACGGCGACATCCGCAC	0.637																																																	0													80.0	81.0	81.0					1																	16262663		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9928G>A	1.37:g.16262663G>A	ENSP00000364912:p.Asp3310Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D3310N	ENST00000375759.3	37	c.9928	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429752	0.62844	.	.	ENSG00000065526	ENST00000375759	T	0.09817	2.94	5.3	5.3	0.74995	.	.	.	.	.	T	0.31358	0.0794	M	0.63428	1.95	0.37606	D	0.920746	D	0.89917	1.0	D	0.73708	0.981	T	0.04029	-1.0983	9	0.34782	T	0.22	-21.3715	18.9555	0.92657	0.0:0.0:1.0:0.0	.	3310	Q96T58	MINT_HUMAN	N	3310	ENSP00000364912:D3310N	ENSP00000364912:D3310N	D	+	1	0	SPEN	16135250	1.000000	0.71417	0.936000	0.37596	0.959000	0.62525	8.223000	0.89779	2.465000	0.83290	0.655000	0.94253	GAC	SPEN	-	NULL		0.637	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16262663	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.970	A
STRIP1	85369	genome.wustl.edu	37	1	110580706	110580706	+	Intron	SNP	A	A	G	rs200695359		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr1:110580706A>G	ENST00000369795.3	+	2	272				STRIP1_ENST00000369794.2_Intron|STRIP1_ENST00000369796.1_Intron	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1						cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											atatatatatatatatatata	0.234																																																	0																																										SO:0001627	intron_variant	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.250+124A>G	1.37:g.110580706A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	RNA	SNP	-	NULL	ENST00000369795.3	37	NULL	CCDS30798.1	1																																																																																			STRIP1	-	-		0.234	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	A	NM_033088		110580706	+1	no_errors	ENST00000489059	ensembl	human	known	70_37	rna	SNP	0.000	G
TERT	7015	genome.wustl.edu	37	5	1293768	1293768	+	Silent	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr5:1293768C>T	ENST00000310581.5	-	2	1290	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Silent_p.T411T|TERT_ENST00000334602.6_Silent_p.T411T|TERT_ENST00000508104.2_Silent_p.T411T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	411	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCGGGCAGTGCGTCTTGAGGA	0.701									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													8.0	10.0	9.0					5																	1293768		2140	4231	6371	SO:0001819	synonymous_variant	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1233G>A	5.37:g.1293768C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.T411	ENST00000310581.5	37	c.1233	CCDS3861.2	5																																																																																			TERT	-	NULL		0.701	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	C			1293768	-1	no_errors	ENST00000310581	ensembl	human	known	70_37	silent	SNP	0.002	T
TM7SF3	51768	genome.wustl.edu	37	12	27152716	27152717	+	Intron	INS	-	-	A	rs369163710|rs564843464		TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr12:27152716_27152717insA	ENST00000343028.4	-	3	472				TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAAACAAATAGAAAAAAAAAAC	0.342																																																	0																																										SO:0001627	intron_variant	51768			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.247-107->T	12.37:g.27152726_27152726dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMZ3|Q9NUS4	RNA	INS	-	NULL	ENST00000343028.4	37	NULL	CCDS8710.1	12																																																																																			TM7SF3	-	-		0.342	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	-	NM_016551		27152717	-1	no_errors	ENST00000539399	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
TTN	7273	genome.wustl.edu	37	2	179392071	179392071	+	Intron	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr2:179392071C>T	ENST00000591111.1	-	313	102982				TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTAGAATCACTGAAAAAA	0.343																																																	0													49.0	43.0	45.0					2																	179392071		1812	4077	5889	SO:0001627	intron_variant	100506866			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102758-37G>A	2.37:g.179392071C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179392071	+1	no_errors	ENST00000587576	ensembl	human	known	70_37	rna	SNP	0.993	T
UGT1A6	54578	genome.wustl.edu	37	2	234602059	234602059	+	Missense_Mutation	SNP	A	A	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr2:234602059A>T	ENST00000305139.6	+	1	548	c.409A>T	c.(409-411)Aac>Tac	p.N137Y	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	137					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGACACCCTGAACTTCTTTAA	0.488																																																	0													101.0	82.0	89.0					2																	234602059		2203	4300	6503	SO:0001583	missense	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.409A>T	2.37:g.234602059A>T	ENSP00000303174:p.Asn137Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N137Y	ENST00000305139.6	37	c.409	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	A	8.644	0.896581	0.17686	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.06933	3.24;3.24	5.31	-3.15	0.05233	.	.	.	.	.	T	0.06690	0.0171	N	0.25890	0.77	0.09310	N	1	B;B	0.23937	0.094;0.045	B;B	0.30716	0.119;0.041	T	0.42292	-0.9460	9	0.72032	D	0.01	.	8.4146	0.32664	0.3445:0.5148:0.1408:0.0	.	137;137	B8K289;P19224	.;UD16_HUMAN	Y	137	ENSP00000389637:N137Y;ENSP00000303174:N137Y	ENSP00000303174:N137Y	N	+	1	0	UGT1A6	234266798	0.000000	0.05858	0.004000	0.12327	0.212000	0.24457	-1.214000	0.02988	-0.727000	0.04888	-0.313000	0.08912	AAC	UGT1A6	-	pfam_UDP_glucos_trans		0.488	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	A	NM_205862		234602059	+1	no_errors	ENST00000305139	ensembl	human	known	70_37	missense	SNP	0.001	T
USP43	124739	genome.wustl.edu	37	17	9549282	9549282	+	Silent	SNP	C	C	T			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:9549282C>T	ENST00000285199.7	+	1	429	c.333C>T	c.(331-333)ttC>ttT	p.F111F	USP43_ENST00000570475.1_Silent_p.F111F|RP11-55L4.1_ENST00000572923.1_RNA|RP11-55L4.2_ENST00000584676.1_RNA|USP43_ENST00000570827.2_Intron	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	111	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACACCTGTTTCATGAACGCGG	0.731																																																	0													4.0	5.0	5.0					17																	9549282		1814	3891	5705	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.333C>T	17.37:g.9549282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F111	ENST00000285199.7	37	c.333	CCDS45610.1	17																																																																																			USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.731	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9549282	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	silent	SNP	1.000	T
USP32P2	220594	genome.wustl.edu	37	17	18415611	18415611	+	RNA	SNP	A	A	C			TCGA-UC-A7PD-01A-11D-A351-09	TCGA-UC-A7PD-11A-12D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d689a1c-66ac-4995-82ee-a1d9ea8263b0	2825b631-715e-4dc3-a092-3b9f915e9e0c	g.chr17:18415611A>C	ENST00000425211.1	-	0	3658				USP32P2_ENST00000412260.1_RNA																							AATACACACAAGCAAGTTCAT	0.368																																																	0																																												220594																															17.37:g.18415611A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425211.1	37	NULL		17																																																																																			USP32P2	-	-		0.368	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	USP32P2	HGNC	processed_transcript	OTTHUMT00000473021.1	A			18415611	-1	no_errors	ENST00000412260	ensembl	human	known	70_37	rna	SNP	0.146	C
