#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_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
ABCF2	10061	genome.wustl.edu	37	7	150918700	150918700	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:150918700G>A	ENST00000287844.2	-	7	994	c.885C>T	c.(883-885)atC>atT	p.I295I	ABCF2_ENST00000222388.2_Silent_p.I295I|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	295	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATGTGAATGATATTGGTAC	0.418																																																	0													242.0	246.0	245.0					7																	150918700		2203	4300	6503	SO:0001819	synonymous_variant	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.885C>T	7.37:g.150918700G>A			O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I295	ENST00000287844.2	37	c.885	CCDS5923.1	7																																																																																			ABCF2	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.418	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	G	NM_005692		150918700	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	silent	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4016873	4016873	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:4016873G>T	ENST00000294016.3	-	11	3503	c.2965C>A	c.(2965-2967)Ctg>Atg	p.L989M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	989					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AACAAGAGCAGGAGAAAGAAG	0.592																																																	0													74.0	81.0	79.0					16																	4016873		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2965C>A	16.37:g.4016873G>T	ENSP00000294016:p.Leu989Met		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L989M	ENST00000294016.3	37	c.2965	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004623	0.54254	.	.	ENSG00000162104	ENST00000294016	D	0.85629	-2.01	5.39	5.39	0.77823	.	0.064985	0.64402	D	0.000010	D	0.91526	0.7324	M	0.69823	2.125	0.48135	D	0.999591	D	0.71674	0.998	D	0.66847	0.947	D	0.90146	0.4217	10	0.38643	T	0.18	.	19.501	0.95095	0.0:0.0:1.0:0.0	.	989	O60503	ADCY9_HUMAN	M	989	ENSP00000294016:L989M	ENSP00000294016:L989M	L	-	1	2	ADCY9	3956874	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.652000	0.67959	2.692000	0.91855	0.491000	0.48974	CTG	ADCY9	-	NULL		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4016873	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T
ADPRH	141	genome.wustl.edu	37	3	119301229	119301229	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:119301229G>T	ENST00000478399.1	+	2	1618	c.213G>T	c.(211-213)ggG>ggT	p.G71G	ADPRH_ENST00000357003.3_Silent_p.G71G|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000478927.1_Silent_p.G71G|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000465513.1_Silent_p.G71G			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	71					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGGAAGCTGGGAAAGCCCCTA	0.557																																					GBM(133;579 1804 5989 9967 40052)												0													95.0	86.0	89.0					3																	119301229		2203	4300	6503	SO:0001819	synonymous_variant	141			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.213G>T	3.37:g.119301229G>T			B2R8H1|D3DN83	Silent	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.G71	ENST00000478399.1	37	c.213	CCDS2990.1	3																																																																																			ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro		0.557	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	G	NM_001125		119301229	+1	no_errors	ENST00000357003	ensembl	human	known	70_37	silent	SNP	0.003	T
AGFG2	3268	genome.wustl.edu	37	7	100137181	100137181	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:100137181C>T	ENST00000300176.4	+	1	334	c.212C>T	c.(211-213)tCc>tTc	p.S71F	AGFG2_ENST00000262935.4_Missense_Mutation_p.S71F	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	71	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCACCTGCTCCGGCCTCCTG	0.746																																																	0													10.0	9.0	10.0					7																	100137181		2126	4136	6262	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.212C>T	7.37:g.100137181C>T	ENSP00000300176:p.Ser71Phe		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S71F	ENST00000300176.4	37	c.212	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.322086	0.95708	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.56275	0.47;0.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	H	0.95539	3.685	0.51012	D	0.999909	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85988	0.1487	10	0.87932	D	0	-23.6918	15.0468	0.71833	0.0:1.0:0.0:0.0	.	71;71	O95081-2;O95081	.;AGFG2_HUMAN	F	71	ENSP00000300176:S71F;ENSP00000262935:S71F	ENSP00000262935:S71F	S	+	2	0	AGFG2	99975117	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.006000	0.76329	2.624000	0.88883	0.456000	0.33151	TCC	AGFG2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.746	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	C	NM_006076		100137181	+1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	1.000	T
AKR1C1	1645	genome.wustl.edu	37	10	5008127	5008127	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:5008127G>C	ENST00000380872.4	+	2	298	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	AKR1C1_ENST00000380859.1_Missense_Mutation_p.E38Q|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.E36Q	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	36					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TAAAGCTTTAGAGGCCACCAA	0.443																																					Colon(130;2054 2316 13360 15380)												0													84.0	78.0	80.0					10																	5008127		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.106G>C	10.37:g.5008127G>C	ENSP00000370254:p.Glu36Gln		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E36Q	ENST00000380872.4	37	c.106	CCDS7061.1	10	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130475	0.37630	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859	T;T;T	0.52983	0.64;0.64;0.64	2.48	1.55	0.23275	NADP-dependent oxidoreductase domain (3);	0.669740	0.12911	N	0.428951	T	0.46678	0.1405	N	0.21617	0.685	0.19775	N	0.999956	D;P;P	0.62365	0.991;0.936;0.936	D;P;P	0.65443	0.935;0.783;0.783	T	0.22836	-1.0205	10	0.34782	T	0.22	.	6.9059	0.24309	0.16:0.0:0.84:0.0	.	36;36;36	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	Q	36;36;38	ENSP00000412248:E36Q;ENSP00000370254:E36Q;ENSP00000370240:E38Q	ENSP00000370240:E38Q	E	+	1	0	AKR1C1	4998127	0.917000	0.31117	0.089000	0.20774	0.021000	0.10359	2.420000	0.44679	1.388000	0.46506	0.305000	0.20034	GAG	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.443	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	G	NM_001353		5008127	+1	no_errors	ENST00000380872	ensembl	human	known	70_37	missense	SNP	0.368	C
ANXA5	308	genome.wustl.edu	37	4	122605888	122605888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:122605888G>A	ENST00000296511.5	-	4	418	c.133C>T	c.(133-135)Cga>Tga	p.R45*	ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	45					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GCATTACTTCGGGATGTCAAC	0.458																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													187.0	160.0	169.0					4																	122605888		2203	4300	6503	SO:0001587	stop_gained	308			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.133C>T	4.37:g.122605888G>A	ENSP00000296511:p.Arg45*		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Nonsense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.R45*	ENST00000296511.5	37	c.133	CCDS3720.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.974695	0.97162	.	.	ENSG00000164111	ENST00000296511;ENST00000512232	.	.	.	6.06	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6866	0.56952	0.0:0.0:0.5919:0.4081	.	.	.	.	X	45	.	ENSP00000296511:R45X	R	-	1	2	ANXA5	122825338	1.000000	0.71417	0.902000	0.35471	0.974000	0.67602	3.139000	0.50577	1.523000	0.49018	0.655000	0.94253	CGA	ANXA5	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV		0.458	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	G	NM_001154		122605888	-1	no_errors	ENST00000296511	ensembl	human	known	70_37	nonsense	SNP	0.958	A
APOB	338	genome.wustl.edu	37	2	21232108	21232108	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:21232108G>T	ENST00000233242.1	-	26	7759	c.7632C>A	c.(7630-7632)agC>agA	p.S2544R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2544					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAAGTGTGCTATAAACCT	0.433																																																	0													119.0	101.0	107.0					2																	21232108		2203	4299	6502	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7632C>A	2.37:g.21232108G>T	ENSP00000233242:p.Ser2544Arg		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S2544R	ENST00000233242.1	37	c.7632	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313241	0.40895	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	5.31	-3.9	0.04181	.	1.258120	0.05245	N	0.512827	T	0.01029	0.0034	L	0.56769	1.78	0.09310	N	0.999992	B	0.22480	0.07	B	0.19148	0.024	T	0.42599	-0.9442	10	0.44086	T	0.13	.	5.2824	0.15682	0.4946:0.0:0.1842:0.3211	.	2544	P04114	APOB_HUMAN	R	2544	ENSP00000233242:S2544R	ENSP00000233242:S2544R	S	-	3	2	APOB	21085613	0.004000	0.15560	0.000000	0.03702	0.872000	0.50106	0.076000	0.14712	-1.007000	0.03408	0.561000	0.74099	AGC	APOB	-	NULL		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	G			21232108	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	T
AQR	9716	genome.wustl.edu	37	15	35166878	35166878	+	Splice_Site	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr15:35166878C>T	ENST00000156471.5	-	29	3650	c.3425G>A	c.(3424-3426)aGc>aAc	p.S1142N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1142					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCTTTTACCTTGCTCTGGC	0.408																																																	0													120.0	110.0	113.0					15																	35166878		1886	4112	5998	SO:0001630	splice_region_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3425+1G>A	15.37:g.35166878C>T			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.S1142N	ENST00000156471.5	37	c.3425	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324632	0.81580	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.81908	-1.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.77313	2.365	0.58432	D	0.999998	B	0.29835	0.258	B	0.37833	0.259	D	0.83554	0.0103	9	.	.	.	-10.7656	19.4755	0.94985	0.0:1.0:0.0:0.0	.	1142	O60306	AQR_HUMAN	N	1142	ENSP00000156471:S1142N	.	S	-	2	0	AQR	32954170	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.755000	0.85180	2.605000	0.88082	0.650000	0.86243	AGC	AQR	-	NULL		0.408	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	C	NM_014691	Missense_Mutation	35166878	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	missense	SNP	1.000	T
BCL9	607	genome.wustl.edu	37	1	147078585	147078585	+	5'UTR	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:147078585C>T	ENST00000234739.3	+	0	407					NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9						canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGACAAGGGTCATCTTTGAGA	0.423			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0																																										SO:0001623	5_prime_UTR_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.-334C>T	1.37:g.147078585C>T			Q5T489	RNA	SNP	-	NULL	ENST00000234739.3	37	NULL	CCDS30833.1	1																																																																																			BCL9	-	-		0.423	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	C	NM_004326		147078585	+1	no_errors	ENST00000497938	ensembl	human	known	70_37	rna	SNP	0.000	T
BCAN	63827	genome.wustl.edu	37	1	156622156	156622156	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:156622156G>A	ENST00000329117.5	+	8	1750	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	BCAN_ENST00000361588.5_Missense_Mutation_p.E472K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	472	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					agaagaagaggaggaggtgga	0.582																																																	0													22.0	21.0	21.0					1																	156622156		2203	4299	6502	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1414G>A	1.37:g.156622156G>A	ENSP00000331210:p.Glu472Lys		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E472K	ENST00000329117.5	37	c.1414	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234965	0.09969	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.21361	2.01;2.55	4.65	2.72	0.32119	.	0.403364	0.19374	N	0.115821	T	0.04452	0.0122	N	0.19112	0.55	0.27757	N	0.943955	B;P	0.35272	0.361;0.493	B;B	0.34242	0.054;0.178	T	0.29792	-1.0000	10	0.37606	T	0.19	-3.5609	7.5782	0.27948	0.2098:0.0:0.7902:0.0	.	472;472	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	411;472;472	ENSP00000331210:E472K;ENSP00000354925:E472K	ENSP00000255029:E411K	E	+	1	0	BCAN	154888780	1.000000	0.71417	0.979000	0.43373	0.038000	0.13279	1.668000	0.37481	0.931000	0.37242	0.555000	0.69702	GAG	BCAN	-	NULL		0.582	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156622156	+1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.981	A
BUD13	84811	genome.wustl.edu	37	11	116631614	116631614	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:116631614C>T	ENST00000260210.4	-	5	1114	c.1091G>A	c.(1090-1092)aGt>aAt	p.S364N	BUD13_ENST00000375445.3_Missense_Mutation_p.S230N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	364					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGCCCTGGACTTTGTTTATG	0.502																																																	0													150.0	139.0	142.0					11																	116631614		2201	4296	6497	SO:0001583	missense	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1091G>A	11.37:g.116631614C>T	ENSP00000260210:p.Ser364Asn		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S364N	ENST00000260210.4	37	c.1091	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	C	4.933	0.173277	0.09391	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18502	2.21;2.23	4.35	-0.635	0.11512	.	0.969547	0.08604	N	0.920961	T	0.15869	0.0382	L	0.58669	1.825	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.004	T	0.37314	-0.9711	10	0.87932	D	0	0.0651	3.9757	0.09473	0.1739:0.315:0.0:0.5111	.	364;230;364	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	N	230;364	ENSP00000364594:S230N;ENSP00000260210:S364N	ENSP00000260210:S364N	S	-	2	0	BUD13	116136824	0.000000	0.05858	0.000000	0.03702	0.595000	0.36748	-0.067000	0.11579	-0.087000	0.12528	0.563000	0.77884	AGT	BUD13	-	NULL		0.502	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	C	NM_032725		116631614	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	0.000	T
CAPN9	10753	genome.wustl.edu	37	1	230883277	230883277	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:230883277C>A	ENST00000271971.2	+	1	148	c.35C>A	c.(34-36)gCa>gAa	p.A12E	CAPN9_ENST00000366666.2_Missense_Mutation_p.A12E|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.A12E	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	12					digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGCCTCAGGCACACCCGGTT	0.612																																																	0													62.0	69.0	66.0					1																	230883277		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.35C>A	1.37:g.230883277C>A	ENSP00000271971:p.Ala12Glu		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A12E	ENST00000271971.2	37	c.35	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246451	0.01481	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.46063	0.88;0.88;0.88	5.29	-0.127	0.13510	.	0.711974	0.14161	N	0.337369	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.22977	-1.0201	10	0.20519	T	0.43	.	10.1368	0.42712	0.6393:0.2881:0.0:0.0726	.	12;12;12	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	E	12	ENSP00000271971:A12E;ENSP00000346538:A12E;ENSP00000355626:A12E	ENSP00000271971:A12E	A	+	2	0	CAPN9	228949900	0.001000	0.12720	0.004000	0.12327	0.218000	0.24690	0.972000	0.29409	0.136000	0.18733	-0.140000	0.14226	GCA	CAPN9	-	NULL		0.612	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	C	NM_006615		230883277	+1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	0.001	A
CCDC40	55036	genome.wustl.edu	37	17	78071135	78071135	+	Missense_Mutation	SNP	C	C	T	rs553780409		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:78071135C>T	ENST00000397545.4	+	19	3140	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1038					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAAAGCTGTCGGTGATTCAG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.0		0.0	False		,,,				2504	0.001																0													56.0	62.0	60.0					17																	78071135		2012	4161	6173	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3113C>T	17.37:g.78071135C>T	ENSP00000380679:p.Ser1038Leu		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.S1038L	ENST00000397545.4	37	c.3113	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154925	0.57259	.	.	ENSG00000141519	ENST00000397545	T	0.50548	0.74	4.51	3.53	0.40419	.	.	.	.	.	T	0.58694	0.2140	M	0.76838	2.35	0.21473	N	0.999672	D;D	0.64830	0.994;0.993	P;P	0.54460	0.645;0.753	T	0.49184	-0.8966	9	0.33940	T	0.23	-0.7359	9.6418	0.39844	0.0:0.7746:0.1426:0.0828	.	1038;821	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	L	1038	ENSP00000380679:S1038L	ENSP00000380679:S1038L	S	+	2	0	CCDC40	75685730	0.074000	0.21230	0.040000	0.18447	0.006000	0.05464	1.071000	0.30666	1.194000	0.43101	0.467000	0.42956	TCG	CCDC40	-	NULL		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	C	XM_371082		78071135	+1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	0.077	T
CDK18	5129	genome.wustl.edu	37	1	205499706	205499706	+	Intron	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:205499706G>C	ENST00000360066.2	+	15	1613				CDK18_ENST00000506784.1_Intron|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GTCCTTACTGGAGGCCAGCTC	0.592																																					Pancreas(180;489 2072 28461 40831 44265)												0													32.0	31.0	31.0					1																	205499706		2203	4299	6502	SO:0001627	intron_variant	5129			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1313-50G>C	1.37:g.205499706G>C			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	RNA	SNP	-	NULL	ENST00000360066.2	37	NULL	CCDS44300.1	1																																																																																			CDK18	-	-		0.592	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	G	NM_002596		205499706	+1	no_errors	ENST00000459862	ensembl	human	known	70_37	rna	SNP	0.005	C
CDO1	1036	genome.wustl.edu	37	5	115146870	115146870	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:115146870C>A	ENST00000250535.4	-	3	947	c.391G>T	c.(391-393)Gcc>Tcc	p.A131S	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	131					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TTGATGTAGGCACACTGGTTT	0.388																																																	0													243.0	235.0	238.0					5																	115146870		2202	4300	6502	SO:0001583	missense	1036				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.391G>T	5.37:g.115146870C>A	ENSP00000250535:p.Ala131Ser		B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.A131S	ENST00000250535.4	37	c.391	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540683	0.85917	.	.	ENSG00000129596	ENST00000250535	T	0.44881	0.91	6.03	6.03	0.97812	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.095910	0.64402	D	0.000001	T	0.60038	0.2238	L	0.60067	1.865	0.80722	D	1	P	0.37985	0.613	P	0.55112	0.769	T	0.42766	-0.9432	10	0.23891	T	0.37	-16.6818	20.1519	0.98089	0.0:1.0:0.0:0.0	.	131	Q16878	CDO1_HUMAN	S	131	ENSP00000250535:A131S	ENSP00000250535:A131S	A	-	1	0	CDO1	115174769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	2.861000	0.98227	0.655000	0.94253	GCC	CDO1	-	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin		0.388	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	C	NM_001801		115146870	-1	no_errors	ENST00000250535	ensembl	human	known	70_37	missense	SNP	1.000	A
COL5A1	1289	genome.wustl.edu	37	9	137701008	137701008	+	Intron	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:137701008G>C	ENST00000371817.3	+	43	3780					NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGTTTGACCTGAGATCTTCTG	0.627																																																	0													12.0	12.0	12.0					9																	137701008		2153	4227	6380	SO:0001627	intron_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3367-21G>C	9.37:g.137701008G>C			Q15094|Q5SUX4	RNA	SNP	-	NULL	ENST00000371817.3	37	NULL	CCDS6982.1	9																																																																																			COL5A1	-	-		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137701008	+1	no_errors	ENST00000463925	ensembl	human	putative	70_37	rna	SNP	0.000	C
COQ10A	93058	genome.wustl.edu	37	12	56661649	56661649	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:56661649C>T	ENST00000308197.5	+	2	467	c.206C>T	c.(205-207)tCg>tTg	p.S69L	COQ10A_ENST00000433805.2_Missense_Mutation_p.S37L|COQ10A_ENST00000546544.1_Missense_Mutation_p.S52L|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	69						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GGCTTACCTTCGAGCCGTTCC	0.562																																																	0													115.0	122.0	120.0					12																	56661649		2039	4178	6217	SO:0001583	missense	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.206C>T	12.37:g.56661649C>T	ENSP00000312587:p.Ser69Leu		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	pfam_Polyket_cyc	p.S69L	ENST00000308197.5	37	c.206	CCDS41796.1	12	.	.	.	.	.	.	.	.	.	.	C	6.869	0.529708	0.13127	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.23950	1.89;1.89;1.88	5.14	-0.293	0.12835	.	0.644172	0.16362	N	0.217726	T	0.11750	0.0286	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28378	0.209;0.102;0.0	B;B;B	0.20577	0.012;0.03;0.001	T	0.29912	-0.9996	10	0.11794	T	0.64	.	3.578	0.07942	0.1989:0.5059:0.0989:0.1963	.	52;74;69	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	L	69;37;52	ENSP00000312587:S69L;ENSP00000407843:S37L;ENSP00000446723:S52L	ENSP00000312587:S69L	S	+	2	0	COQ10A	54947916	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.430000	0.21428	-0.195000	0.10382	-1.255000	0.01485	TCG	COQ10A	-	NULL		0.562	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10A	HGNC	protein_coding	OTTHUMT00000408332.1	C	NM_144576		56661649	+1	no_errors	ENST00000308197	ensembl	human	known	70_37	missense	SNP	0.000	T
DNAH12	201625	genome.wustl.edu	37	3	57493377	57493377	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:57493377G>C	ENST00000351747.2	-	8	1070	c.890C>G	c.(889-891)tCa>tGa	p.S297*	DNAH12_ENST00000311202.6_Nonsense_Mutation_p.S297*|DNAH12_ENST00000389536.4_Nonsense_Mutation_p.S297*	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	297	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACCTGATTTGACATAAGTGT	0.274																																																	0													87.0	81.0	83.0					3																	57493377		2203	4300	6503	SO:0001587	stop_gained	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.890C>G	3.37:g.57493377G>C	ENSP00000295937:p.Ser297*		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S297*	ENST00000351747.2	37	c.890		3	.	.	.	.	.	.	.	.	.	.	G	38	6.878633	0.97904	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	.	.	.	5.22	5.22	0.72569	.	0.106361	0.36519	N	0.002544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7663	0.91874	0.0:0.0:1.0:0.0	.	.	.	.	X	297	.	ENSP00000312554:S297X	S	-	2	0	DNAH12	57468417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.219000	0.72231	2.414000	0.81942	0.561000	0.74099	TCA	DNAH12	-	NULL		0.274	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		G	NM_178504		57493377	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	nonsense	SNP	1.000	C
DNAJC27	51277	genome.wustl.edu	37	2	25170541	25170541	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:25170541C>T	ENST00000264711.2	-	7	955	c.766G>A	c.(766-768)Gat>Aat	p.D256N	DNAJC27_ENST00000534855.1_Missense_Mutation_p.D185N	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	256	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTGAAGGCATCTTCACTGCCA	0.443																																																	0													189.0	176.0	180.0					2																	25170541		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.766G>A	2.37:g.25170541C>T	ENSP00000264711:p.Asp256Asn		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.D256N	ENST00000264711.2	37	c.766	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.603611	0.96626	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.29917	1.55;1.55	5.42	5.42	0.78866	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.41356	1.27	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.38628	-0.9652	10	0.87932	D	0	-21.6689	17.816	0.88634	0.0:1.0:0.0:0.0	.	256	Q9NZQ0	DJC27_HUMAN	N	256;185	ENSP00000264711:D256N;ENSP00000440086:D185N	ENSP00000264711:D256N	D	-	1	0	DNAJC27	25024045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.542000	0.85734	0.655000	0.94253	GAT	DNAJC27	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.443	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25170541	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK9	23348	genome.wustl.edu	37	13	99554035	99554035	+	Silent	SNP	A	A	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr13:99554035A>G	ENST00000376460.1	-	13	1580	c.1500T>C	c.(1498-1500)tcT>tcC	p.S500S	DOCK9_ENST00000448493.2_Silent_p.S512S|DOCK9_ENST00000339416.2_Silent_p.S501S|DOCK9_ENST00000442173.1_Silent_p.S500S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	501					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATACCTTAGAAGAGTCTG	0.388																																																	0													54.0	51.0	52.0					13																	99554035		1874	4101	5975	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1500T>C	13.37:g.99554035A>G			B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S501	ENST00000376460.1	37	c.1503	CCDS45062.1	13																																																																																			DOCK9	-	NULL		0.388	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	A	NM_015296		99554035	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	0.985	G
DPEP2	64174	genome.wustl.edu	37	16	68023268	68023268	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:68023268G>C	ENST00000572888.1	-	8	1678	c.1028C>G	c.(1027-1029)tCc>tGc	p.S343C	DPEP2_ENST00000412757.2_Missense_Mutation_p.S343C|DPEP2_ENST00000393847.1_Missense_Mutation_p.S343C			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	343					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GATGAACTTGGATCCAATGAC	0.597																																																	0													144.0	107.0	119.0					16																	68023268		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1028C>G	16.37:g.68023268G>C	ENSP00000458977:p.Ser343Cys		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.S343C	ENST00000572888.1	37	c.1028	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375190	0.24857	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.22743	1.94;1.94	4.56	2.59	0.31030	.	0.417107	0.26563	N	0.023679	T	0.38506	0.1043	M	0.78637	2.42	0.80722	D	1	D;D	0.57571	0.98;0.975	D;P	0.65140	0.932;0.887	T	0.11131	-1.0600	10	0.37606	T	0.19	-12.6884	6.4532	0.21916	0.0974:0.1837:0.719:0.0	.	343;256	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	C	343;343;256	ENSP00000377430:S343C;ENSP00000412549:S343C	ENSP00000314702:S256C	S	-	2	0	DPEP2	66580769	0.996000	0.38824	0.998000	0.56505	0.219000	0.24729	4.475000	0.60210	0.853000	0.35312	0.561000	0.74099	TCC	DPEP2	-	pfam_Peptidase_M19		0.597	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	G	NM_022355		68023268	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	0.999	C
DYNC1H1	1778	genome.wustl.edu	37	14	102452449	102452449	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:102452449G>A	ENST00000360184.4	+	8	2051	c.1887G>A	c.(1885-1887)caG>caA	p.Q629Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	629	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGTACCCACAGAGTCAGGCTT	0.532																																																	0													76.0	62.0	67.0					14																	102452449		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1887G>A	14.37:g.102452449G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q629	ENST00000360184.4	37	c.1887	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-1		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102452449	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.992	A
ENO3	2027	genome.wustl.edu	37	17	4859382	4859382	+	Silent	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:4859382C>T	ENST00000323997.6	+	9	1143	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	ENO3_ENST00000519584.1_Silent_p.C294C|ENO3_ENST00000518175.1_Silent_p.C337C	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	337					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAAGGCCTGCAACTGTCTGC	0.592																																																	0													103.0	83.0	90.0					17																	4859382		2203	4300	6503	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1011C>T	17.37:g.4859382C>T			B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.C337	ENST00000323997.6	37	c.1011	CCDS11062.1	17																																																																																			ENO3	-	pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase		0.592	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO3	HGNC	protein_coding	OTTHUMT00000216851.2	C			4859382	+1	no_errors	ENST00000323997	ensembl	human	known	70_37	silent	SNP	0.995	T
RP11-43F13.4	0	genome.wustl.edu	37	5	1004311	1004312	+	lincRNA	DEL	GT	GT	-	rs3083863|rs72705193|rs57997780|rs61651856	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:1004311_1004312delGT	ENST00000606540.1	+	0	0				AC116351.2_ENST00000408317.1_RNA																							GGGGACgtgggtgtgtgtgtgt	0.589																																																	0																																												0																															5.37:g.1004321_1004322delGT				RNA	DEL	-	NULL	ENST00000606540.1	37	NULL		5																																																																																			AC116351.2	-	-		0.589	RP11-43F13.4-001	KNOWN	basic	lincRNA	ENSG00000221244	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000470457.1	GT			1004312	+1	no_errors	ENST00000408317	ensembl	human	novel	70_37	rna	DEL	0.057:0.050	-
SPINK7	84651	genome.wustl.edu	37	5	147695441	147695441	+	3'UTR	DEL	T	T	-	rs74351593|rs11355957		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:147695441delT	ENST00000274565.4	+	0	513				RP11-373N22.3_ENST00000501695.3_RNA	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)							extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCAGCATTTTTTTTTTA	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"""Serine peptidase inhibitors, Kazal type"""	24643	protein-coding gene	gene with protein product	"""esophagus cancer related gene 2"""					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.*194T>-	5.37:g.147695441delT			Q32LY0	RNA	DEL	-	NULL	ENST00000274565.4	37	NULL	CCDS4289.1	5																																																																																			RP11-373N22.4	-	-		0.383	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254282	Clone_based_vega_gene	protein_coding	OTTHUMT00000251944.5	T	NM_032566		147695441	+1	no_errors	ENST00000523913	ensembl	human	putative	70_37	rna	DEL	0.002	-
GTF2H5	404672	genome.wustl.edu	37	6	158596078	158596078	+	Intron	SNP	A	A	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:158596078A>G	ENST00000607778.1	+	2	113				AL590703.1_ENST00000580588.1_RNA	NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5						cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		gtgtgtgtgtATACACACACA	0.408								Nucleotide excision repair (NER)																																									0																																										SO:0001627	intron_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	21157	protein-coding gene	gene with protein product	"""DNA repair syndrome trichothiodystrophy group A"""	608780	"""chromosome 6 open reading frame 175"", ""trichothiodystrophy"""	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.35+4508A>G	6.37:g.158596078A>G			Q0P5V8	RNA	SNP	-	NULL	ENST00000607778.1	37	NULL	CCDS5256.1	6																																																																																			AL590703.1	-	-		0.408	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265803	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000042865.2	A	NM_207118		158596078	+1	no_errors	ENST00000580588	ensembl	human	novel	70_37	rna	SNP	0.000	G
HSD17B1	3292	genome.wustl.edu	37	17	40704901	40704901	+	5'UTR	SNP	G	G	A	rs567574856	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:40704901G>A	ENST00000585807.1	+	0	3670				RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_5'Flank	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1						bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGGGCGGGGCGAAGCAGGTGA	0.672													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12893	0.0		0.001	False		,,,				2504	0.0																0													19.0	18.0	18.0					17																	40704901		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.-51G>A	17.37:g.40704901G>A			B3KXS1|Q2M2L8	RNA	SNP	-	NULL	ENST00000585807.1	37	NULL	CCDS11428.1	17																																																																																			RP11-400F19.6	-	-		0.672	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266962	Clone_based_vega_gene	protein_coding	OTTHUMT00000450392.1	G	NM_000413		40704901	-1	no_errors	ENST00000590513	ensembl	human	known	70_37	rna	SNP	0.000	A
EPS15	2060	genome.wustl.edu	37	1	51875224	51875224	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:51875224C>A	ENST00000371733.3	-	14	1354	c.1258G>T	c.(1258-1260)Gct>Tct	p.A420S	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.A420S|EPS15_ENST00000396122.4_Missense_Mutation_p.A97S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	420					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCCTCCTCAGCACATTTCTTT	0.468			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											154.0	131.0	139.0					1																	51875224		2203	4300	6503	SO:0001583	missense	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1258G>T	1.37:g.51875224C>A	ENSP00000360798:p.Ala420Ser		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.A420S	ENST00000371733.3	37	c.1258	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317910	0.40996	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	D;D;T	0.82893	-1.66;-1.66;2.29	5.75	4.83	0.62350	.	0.270662	0.19705	N	0.107954	D	0.82360	0.5020	L	0.41236	1.265	0.44302	D	0.997171	D;B;B	0.58620	0.983;0.001;0.059	P;B;B	0.51550	0.673;0.004;0.043	T	0.79085	-0.1948	10	0.22109	T	0.4	.	16.1273	0.81404	0.1348:0.8652:0.0:0.0	.	420;420;106	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	S	420;420;97	ENSP00000360795:A420S;ENSP00000360798:A420S;ENSP00000379428:A97S	ENSP00000360795:A420S	A	-	1	0	EPS15	51647812	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.781000	0.26774	1.397000	0.46682	0.563000	0.77884	GCT	EPS15	-	NULL		0.468	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	C	NM_001981		51875224	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM111A	63901	genome.wustl.edu	37	11	58920313	58920313	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:58920313T>C	ENST00000528737.1	+	5	3990	c.1172T>C	c.(1171-1173)gTg>gCg	p.V391A	FAM111A_ENST00000361723.3_Missense_Mutation_p.V391A|FAM111A_ENST00000531147.1_Missense_Mutation_p.V391A|FAM111A_ENST00000420244.1_Missense_Mutation_p.V391A|FAM111A_ENST00000533703.1_Missense_Mutation_p.V391A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	391	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GATAGCATTGTGGGAGACGGA	0.413																																																	0													159.0	157.0	158.0					11																	58920313		2201	4295	6496	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1172T>C	11.37:g.58920313T>C	ENSP00000434435:p.Val391Ala		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.V391A	ENST00000528737.1	37	c.1172	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543227	0.65198	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.73	3.4	0.38934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.490245	0.20105	N	0.099155	D	0.90055	0.6894	L	0.55103	1.725	0.09310	N	1	D	0.57899	0.981	P	0.60345	0.873	T	0.81015	-0.1124	10	0.38643	T	0.18	-21.1422	8.1264	0.31001	0.0:0.1611:0.0:0.8389	.	391	Q96PZ2	F111A_HUMAN	A	391	ENSP00000434435:V391A;ENSP00000406683:V391A;ENSP00000355264:V391A;ENSP00000433154:V391A;ENSP00000431631:V391A	ENSP00000355264:V391A	V	+	2	0	FAM111A	58676889	0.012000	0.17670	0.194000	0.23346	0.103000	0.19146	0.854000	0.27791	1.094000	0.41399	0.533000	0.62120	GTG	FAM111A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	T	NM_022074		58920313	+1	no_errors	ENST00000361723	ensembl	human	known	70_37	missense	SNP	0.280	C
FAM126B	285172	genome.wustl.edu	37	2	201846020	201846020	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:201846020G>C	ENST00000418596.3	-	12	1753	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	522						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCTGCATATTGAAACTTGGGG	0.483																																																	0													149.0	149.0	149.0					2																	201846020		2203	4300	6503	SO:0001583	missense	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1566C>G	2.37:g.201846020G>C	ENSP00000393667:p.Phe522Leu		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.F522L	ENST00000418596.3	37	c.1566	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805187	0.50315	.	.	ENSG00000155744	ENST00000418596	T	0.78481	-1.18	5.89	4.1	0.47936	.	0.051486	0.85682	D	0.000000	T	0.80949	0.4722	L	0.40543	1.245	0.52099	D	0.999948	D;P	0.63880	0.993;0.956	D;D	0.68192	0.956;0.931	T	0.79617	-0.1729	10	0.51188	T	0.08	-13.1616	10.0604	0.42270	0.205:0.0:0.795:0.0	.	328;522	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	522	ENSP00000393667:F522L	ENSP00000393667:F522L	F	-	3	2	FAM126B	201554265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.479000	0.66813	0.835000	0.34877	-0.150000	0.13652	TTC	FAM126B	-	NULL		0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	G	NM_173822		201846020	-1	no_errors	ENST00000418596	ensembl	human	known	70_37	missense	SNP	1.000	C
AC026369.1	0	genome.wustl.edu	37	12	148078	148078	+	IGR	SNP	G	G	A	rs8181620		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:148078G>A	ENST00000594563.1	+	0	129				FAM138D_ENST00000320165.5_lincRNA																							cacaattgccgtgctccttgg	0.537																																																	0																																										SO:0001628	intergenic_variant	677784																															12.37:g.148078G>A				RNA	SNP	-	NULL	ENST00000594563.1	37	NULL		12																																																																																			FAM138D	-	-		0.537	AC026369.1-201	NOVEL	basic|appris_principal	protein_coding	FAM138D	HGNC	protein_coding		G			148078	-1	no_errors	ENST00000320165	ensembl	human	known	70_37	rna	SNP	0.000	A
FAM160A1	729830	genome.wustl.edu	37	4	152499189	152499189	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:152499189G>T	ENST00000505231.1	+	3	852	c.693G>T	c.(691-693)atG>atT	p.M231I	FAM160A1_ENST00000435205.1_Missense_Mutation_p.M231I|RN7SKP35_ENST00000517210.1_RNA			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	231										endometrium(2)|kidney(1)	3						AGAACACCATGGTGGCCCATC	0.488																																																	0													173.0	158.0	163.0					4																	152499189		692	1591	2283	SO:0001583	missense	729830				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.693G>T	4.37:g.152499189G>T	ENSP00000421580:p.Met231Ile		Q6ZUS2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.M231I	ENST00000505231.1	37	c.693	CCDS47146.1	4	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689031	0.29962	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.28454	1.61;1.61	6.14	5.29	0.74685	.	0.250811	0.46442	D	0.000293	T	0.15478	0.0373	N	0.08118	0	0.30447	N	0.775648	B	0.02656	0.0	B	0.06405	0.002	T	0.13255	-1.0516	9	.	.	.	-23.888	11.2651	0.49106	0.0:0.1136:0.647:0.2393	.	231	Q05DH4	F16A1_HUMAN	I	231	ENSP00000413196:M231I;ENSP00000421580:M231I	.	M	+	3	0	FAM160A1	152718639	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.271000	0.33098	1.608000	0.50180	0.650000	0.86243	ATG	FAM160A1	-	pfam_RetinoicA-induced_16-like		0.488	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	G	NM_001109977		152499189	+1	no_errors	ENST00000435205	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM171A1	221061	genome.wustl.edu	37	10	15290684	15290684	+	Silent	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:15290684C>T	ENST00000378116.4	-	5	714	c.708G>A	c.(706-708)ctG>ctA	p.L236L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	236						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CATTGTGCCTCAGGCTGCTCT	0.577																																																	0													90.0	81.0	84.0					10																	15290684		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.708G>A	10.37:g.15290684C>T			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.L236	ENST00000378116.4	37	c.708	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.577	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15290684	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187527311	187527311	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:187527311G>A	ENST00000441802.2	-	17	10472	c.10263C>T	c.(10261-10263)gtC>gtT	p.V3421V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3421	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTCGTGTTGACTCTGGGTG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													130.0	128.0	129.0					4																	187527311		2013	4186	6199	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10263C>T	4.37:g.187527311G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3421	ENST00000441802.2	37	c.10263	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527311	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	0.979	A
FBXO43	286151	genome.wustl.edu	37	8	101146590	101146590	+	Silent	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr8:101146590C>A	ENST00000428847.2	-	4	1993	c.1677G>T	c.(1675-1677)ggG>ggT	p.G559G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	559					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTAATACAGCCCCCTGTGGTA	0.458																																																	0													66.0	67.0	67.0					8																	101146590		1909	4131	6040	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1677G>T	8.37:g.101146590C>A				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.G559	ENST00000428847.2	37	c.1677	CCDS47904.1	8																																																																																			FBXO43	-	NULL		0.458	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	C	XM_209918		101146590	-1	no_errors	ENST00000428847	ensembl	human	known	70_37	silent	SNP	0.765	A
FBXO47	494188	genome.wustl.edu	37	17	37094979	37094979	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:37094979C>G	ENST00000378079.2	-	10	1289	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	364										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGTTCTTTCTCACACACCTGA	0.348																																																	0													143.0	136.0	138.0					17																	37094979		2203	4300	6503	SO:0001583	missense	494188				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1090G>C	17.37:g.37094979C>G	ENSP00000367319:p.Glu364Gln		B2RTZ4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E364Q	ENST00000378079.2	37	c.1090	CCDS32639.1	17	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202884	0.38905	.	.	ENSG00000204952	ENST00000378079	T	0.60171	0.21	5.56	5.56	0.83823	.	0.103906	0.64402	D	0.000004	T	0.41351	0.1155	L	0.29908	0.895	0.35277	D	0.78103	P	0.44429	0.835	B	0.35073	0.195	T	0.52689	-0.8542	10	0.22706	T	0.39	-14.3296	13.7895	0.63131	0.0:0.8463:0.1537:0.0	.	364	Q5MNV8	FBX47_HUMAN	Q	364	ENSP00000367319:E364Q	ENSP00000367319:E364Q	E	-	1	0	FBXO47	34348505	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	4.228000	0.58619	2.630000	0.89119	0.491000	0.48974	GAG	FBXO47	-	NULL		0.348	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1	C	NM_001008777		37094979	-1	no_errors	ENST00000378079	ensembl	human	known	70_37	missense	SNP	1.000	G
NDUFS1	4719	genome.wustl.edu	37	2	206980714	206980715	+	3'UTR	INS	-	-	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:206980714_206980715insT	ENST00000233190.6	-	0	10644_10645				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTAACAGTAGTTTTTTTTTCC	0.327																																																	0																																										SO:0001624	3_prime_UTR_variant	100329109				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*8195->A	2.37:g.206980723_206980723dupT			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	INS	-	NULL	ENST00000233190.6	37	NULL	CCDS2366.1	2																																																																																			AC007383.4	-	-		0.327	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSHP3	Clone_based_vega_gene	protein_coding	OTTHUMT00000256391.4	-	NM_005006		206980715	+1	no_errors	ENST00000453039	ensembl	human	known	70_37	rna	INS	0.025:0.033	T
GPATCH2L	55668	genome.wustl.edu	37	14	76620866	76620866	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:76620866C>A	ENST00000261530.7	+	2	226	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.L54M|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.L54M|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.L54M	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	54																	CTTCACTCACCTGGCAGAGCA	0.587																																																	0													58.0	55.0	56.0					14																	76620866		2203	4300	6503	SO:0001583	missense	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.160C>A	14.37:g.76620866C>A	ENSP00000261530:p.Leu54Met		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.L54M	ENST00000261530.7	37	c.160	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363819	0.61513	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.44	4.35	0.52113	.	0.172377	0.39759	N	0.001264	T	0.37348	0.1000	N	0.14661	0.345	0.80722	D	1	P;B;P	0.40875	0.729;0.226;0.731	P;B;B	0.48400	0.576;0.33;0.444	T	0.35500	-0.9786	10	0.54805	T	0.06	-31.4904	15.0618	0.71961	0.0:0.9202:0.0:0.0798	.	54;54;54	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	M	54	ENSP00000451587:L54M;ENSP00000323775:L54M;ENSP00000261530:L54M;ENSP00000450657:L54M	ENSP00000261530:L54M	L	+	1	2	C14orf118	75690619	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.422000	0.59854	2.553000	0.86117	0.561000	0.74099	CTG	GPATCH2L	-	NULL		0.587	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2	C	NM_017926		76620866	+1	no_errors	ENST00000261530	ensembl	human	known	70_37	missense	SNP	1.000	A
GUCY2F	2986	genome.wustl.edu	37	X	108696942	108696942	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chrX:108696942C>G	ENST00000218006.2	-	4	1470	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	393					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGTCCTCATCAACTGGTTGA	0.438																																																	0													116.0	90.0	99.0					X																	108696942		2203	4300	6503	SO:0001583	missense	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1179G>C	X.37:g.108696942C>G	ENSP00000218006:p.Leu393Phe		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L393F	ENST00000218006.2	37	c.1179	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619413	0.03663	.	.	ENSG00000101890	ENST00000218006	D	0.82803	-1.65	3.97	0.166	0.14999	Extracellular ligand-binding receptor (1);	0.479888	0.22991	N	0.053200	T	0.65893	0.2735	L	0.29908	0.895	0.40395	D	0.97958	B	0.12630	0.006	B	0.20577	0.03	T	0.46190	-0.9209	10	0.09843	T	0.71	.	4.7407	0.13012	0.0:0.535:0.1591:0.3059	.	393	P51841	GUC2F_HUMAN	F	393	ENSP00000218006:L393F	ENSP00000218006:L393F	L	-	3	2	GUCY2F	108583598	0.999000	0.42202	0.996000	0.52242	0.980000	0.70556	0.628000	0.24522	-0.106000	0.12110	-0.290000	0.09829	TTG	GUCY2F	-	pfam_ANF_lig-bd_rcpt		0.438	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	C	NM_001522		108696942	-1	no_errors	ENST00000218006	ensembl	human	known	70_37	missense	SNP	0.993	G
HLA-DPA1	3113	genome.wustl.edu	37	6	33048260	33048260	+	Intron	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:33048260G>A	ENST00000419277.1	-	1	31				HLA-DPB1_ENST00000418931.2_Intron|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Intron	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCTGCGTGGTGAGAAAACAGG	0.527																																																	0																																										SO:0001627	intron_variant	3115			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.98+196C>T	6.37:g.33048260G>A			A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	RNA	SNP	-	NULL	ENST00000419277.1	37	NULL	CCDS4764.1	6																																																																																			HLA-DPB1	-	-		0.527	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076071.3	G	NM_033554		33048260	+1	no_errors	ENST00000471184	ensembl	human	known	70_37	rna	SNP	0.003	A
HLA-DPB2	3116	genome.wustl.edu	37	6	33086433	33086433	+	RNA	SNP	T	T	C	rs369813948	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:33086433T>C	ENST00000435074.1	+	0	695									major histocompatibility complex, class II, DP beta 2 (pseudogene)																		ttaCCACCTATAGACTGTAAC	0.353													.|||	12	0.00239617	0.0	0.0	5008	,	,		17918	0.006		0.0	False		,,,				2504	0.0061																0																																												3116			M23911		6p21.3	2012-10-02			ENSG00000224557	ENSG00000224557		"""Histocompatibility complex"""	4941	pseudogene	pseudogene				HLA-DP2B		3036829	Standard	NR_001435		Approved	DP2B, DPB2	uc003ocv.1		OTTHUMG00000031080		6.37:g.33086433T>C				RNA	SNP	-	NULL	ENST00000435074.1	37	NULL		6																																																																																			HLA-DPB2	-	-		0.353	HLA-DPB2-002	KNOWN	basic	processed_transcript	HLA-DPB2	HGNC	pseudogene	OTTHUMT00000276666.1	T	NR_001435		33086433	+1	no_errors	ENST00000435074	ensembl	human	known	70_37	rna	SNP	0.104	C
IARS	3376	genome.wustl.edu	37	9	95002843	95002844	+	Intron	DEL	TT	TT	-			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:95002843_95002844delTT	ENST00000375643.3	-	30	3550				IARS_ENST00000447699.2_Intron|IARS_ENST00000375627.1_Intron|IARS_ENST00000443024.2_Intron|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375629.3_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)	tgcctggccCtttttttttttt	0.455																																																	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+293AA>-	9.37:g.95002853_95002854delTT			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	RNA	DEL	-	NULL	ENST00000375643.3	37	NULL	CCDS6694.1	9																																																																																			IARS	-	-		0.455	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	TT	NM_002161		95002844	-1	no_errors	ENST00000474340	ensembl	human	known	70_37	rna	DEL	0.018:0.021	-
IDO1	3620	genome.wustl.edu	37	8	39775486	39775486	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr8:39775486delG	ENST00000518237.1	+	2	819	c.180delG	c.(178-180)gagfs	p.E60fs	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Frame_Shift_Del_p.E60fs|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	60					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AAAGAGTTGAGAAGGTTTGAC	0.338																																																	0													85.0	81.0	82.0					8																	39775486		1870	4107	5977	SO:0001589	frameshift_variant	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.180delG	8.37:g.39775486delG	ENSP00000430950:p.Glu60fs		Q540B4	Frame_Shift_Del	DEL	pfam_Indolamine_dOase	p.K61fs	ENST00000518237.1	37	c.180	CCDS47847.1	8																																																																																			IDO1	-	pfam_Indolamine_dOase		0.338	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	G	NM_002164		39775486	+1	no_errors	ENST00000518237	ensembl	human	known	70_37	frame_shift_del	DEL	0.937	-
IGF2	3481	genome.wustl.edu	37	11	2154262	2154262	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:2154262G>T	ENST00000416167.2	-	4	1664	c.498C>A	c.(496-498)ccC>ccA	p.P166P	IGF2_ENST00000418738.2_Silent_p.P166P|IGF2_ENST00000381395.1_Silent_p.P166P|IGF2_ENST00000434045.2_Silent_p.P222P|IGF2_ENST00000300632.5_Silent_p.P166P|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381389.1_Silent_p.P166P|IGF2_ENST00000381392.1_Silent_p.P169P|IGF2_ENST00000381406.4_Silent_p.P169P			P01344	IGF2_HUMAN	insulin-like growth factor 2	166					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCCGTGGGCGGGGTCTTGGG	0.677																																																	0													49.0	62.0	58.0					11																	2154262		2201	4299	6500	SO:0001819	synonymous_variant	3481			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.498C>A	11.37:g.2154262G>T			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.P222	ENST00000416167.2	37	c.666	CCDS7728.1	11																																																																																			IGF2	-	pfam_IGF2_C		0.677	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026053.2	G	NM_000612		2154262	-1	no_errors	ENST00000434045	ensembl	human	known	70_37	silent	SNP	0.097	T
IL4R	3566	genome.wustl.edu	37	16	27353578	27353578	+	Silent	SNP	C	C	T	rs575619134		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:27353578C>T	ENST00000395762.2	+	4	466	c.207C>T	c.(205-207)tcC>tcT	p.S69S	IL4R_ENST00000170630.2_Silent_p.S69S|IL4R_ENST00000543915.2_Silent_p.S69S|IL4R_ENST00000449195.1_Silent_p.S69S|IL4R_ENST00000380922.3_Silent_p.S54S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	69					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCTGCTCTCCGAGTAAGCCT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21803	0.0		0.0	False		,,,				2504	0.0																0													126.0	112.0	117.0					16																	27353578		2197	4300	6497	SO:0001819	synonymous_variant	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.207C>T	16.37:g.27353578C>T			B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S69	ENST00000395762.2	37	c.207	CCDS10629.1	16																																																																																			IL4R	-	pfam_IL4Ra_N,superfamily_Fibronectin_type3		0.577	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	C			27353578	+1	no_errors	ENST00000170630	ensembl	human	known	70_37	silent	SNP	0.004	T
INTS3	65123	genome.wustl.edu	37	1	153721203	153721203	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:153721203A>G	ENST00000318967.2	+	6	1124	c.556A>G	c.(556-558)Agt>Ggt	p.S186G	INTS3_ENST00000456435.1_5'UTR|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.S186G|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000512605.1_5'Flank	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	187					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTGGCAGAAAGTGTTCTGGA	0.468																																																	0													226.0	231.0	229.0					1																	153721203		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.556A>G	1.37:g.153721203A>G	ENSP00000318641:p.Ser186Gly		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.S186G	ENST00000318967.2	37	c.556	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429277	0.62844	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.52	5.52	0.82312	.	0.092352	0.85682	D	0.000000	T	0.31040	0.0784	L	0.31578	0.945	0.80722	D	1	B	0.18741	0.03	B	0.16289	0.015	T	0.16100	-1.0414	9	0.38643	T	0.18	.	13.6401	0.62246	1.0:0.0:0.0:0.0	.	186	Q68E01-2	.	G	186	.	ENSP00000318641:S186G	S	+	1	0	INTS3	151987827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.977000	0.88081	2.317000	0.78254	0.460000	0.39030	AGT	INTS3	-	NULL		0.468	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	A	NM_023015		153721203	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	G
AREL1	9870	genome.wustl.edu	37	14	75134036	75134036	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:75134036C>T	ENST00000356357.4	-	17	2604	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	697	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGCTCATTCTCATCAAAAATA	0.403																																																	0													121.0	107.0	111.0					14																	75134036		1859	4123	5982	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2089G>A	14.37:g.75134036C>T	ENSP00000348714:p.Glu697Lys		B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.E697K	ENST00000356357.4	37	c.2089	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.721356	0.96839	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.45668	0.89;0.89	5.44	5.44	0.79542	HECT (4);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	H	0.96970	3.915	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85305	0.1075	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	697	O15033	K0317_HUMAN	K	697;536;536	ENSP00000348714:E697K;ENSP00000452101:E536K	ENSP00000348714:E697K	E	-	1	0	KIAA0317	74203789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.715000	0.92844	0.655000	0.94253	GAG	KIAA0317	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	C	NM_014821		75134036	-1	no_errors	ENST00000356357	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0319	9856	genome.wustl.edu	37	6	24559315	24559315	+	Missense_Mutation	SNP	C	C	T	rs150777675		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:24559315C>T	ENST00000378214.3	-	17	3184	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	KIAA0319_ENST00000535378.1_Missense_Mutation_p.R878Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R842Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R887Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R887Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	887					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGCAGATTTCGGGCCACTTC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19027	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	64.0	67.0		2633,2660,2525,2660,2660	0.1	0.0	6	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	878/1064,887/1073,842/1028,887/1012,887/1073	24559315	1,13005	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2660G>A	6.37:g.24559315C>T	ENSP00000367459:p.Arg887Gln		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R887Q	ENST00000378214.3	37	c.2660	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859192	0.17178	2.27E-4	0.0	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06687	3.27;3.28;3.28;3.28;3.28	3.94	0.114	0.14639	.	0.893051	0.09713	N	0.765469	T	0.01387	0.0045	N	0.21282	0.65	0.20307	N	0.999916	B;B;B	0.25809	0.068;0.135;0.083	B;B;B	0.17979	0.007;0.02;0.005	T	0.47446	-0.9117	10	0.12766	T	0.61	-1.5742	8.6484	0.34020	0.0:0.5097:0.0:0.4903	.	887;878;887	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	887;878;842;887;887	ENSP00000439700:R887Q;ENSP00000442403:R878Q;ENSP00000401086:R842Q;ENSP00000367459:R887Q;ENSP00000437656:R887Q	ENSP00000367459:R887Q	R	-	2	0	KIAA0319	24667294	0.009000	0.17119	0.030000	0.17652	0.995000	0.86356	0.097000	0.15168	0.105000	0.17753	0.650000	0.86243	CGA	KIAA0319	-	NULL		0.488	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	C	NM_014809		24559315	-1	no_errors	ENST00000378214	ensembl	human	known	70_37	missense	SNP	0.024	T
KIAA2026	158358	genome.wustl.edu	37	9	5968043	5968044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:5968043_5968044insT	ENST00000399933.3	-	3	2186_2187	c.2187_2188insA	c.(2185-2190)aaagcafs	p.A730fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.A730fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	730	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTGTTTTGCTTTTTTTTTGA	0.327																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2188dupA	9.37:g.5968052_5968052dupT	ENSP00000382815:p.Ala730fs		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	superfamily_Bromodomain	p.A729fs	ENST00000399933.3	37	c.2188_2187		9																																																																																			KIAA2026	-	NULL		0.327	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	NM_001017969		5968044	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	frame_shift_ins	INS	1.000:1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60886121	60886121	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr20:60886121C>T	ENST00000252999.3	-	74	10184	c.10118G>A	c.(10117-10119)cGa>cAa	p.R3373Q	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3373	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGGGAGCTTCGCGGGAGGAC	0.682																																																	0													19.0	20.0	20.0					20																	60886121		2192	4289	6481	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10118G>A	20.37:g.60886121C>T	ENSP00000252999:p.Arg3373Gln		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R3373Q	ENST00000252999.3	37	c.10118	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	c	13.35	2.211889	0.39102	.	.	ENSG00000130702	ENST00000252999	T	0.78707	-1.2	4.69	-9.39	0.00619	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.679611	0.13892	N	0.355574	T	0.57417	0.2052	L	0.46157	1.445	0.09310	N	0.999999	B	0.25743	0.133	B	0.19946	0.027	T	0.34601	-0.9822	10	0.23302	T	0.38	.	4.3508	0.11155	0.0961:0.1455:0.1901:0.5683	.	3373	O15230	LAMA5_HUMAN	Q	3373	ENSP00000252999:R3373Q	ENSP00000252999:R3373Q	R	-	2	0	LAMA5	60319516	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.279000	0.00261	-2.579000	0.00463	-0.348000	0.07805	CGA	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60886121	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.000	T
LCA5	167691	genome.wustl.edu	37	6	80198894	80198894	+	Missense_Mutation	SNP	C	C	A	rs201814494	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:80198894C>A	ENST00000392959.1	-	8	1749	c.1138G>T	c.(1138-1140)Ggg>Tgg	p.G380W	LCA5_ENST00000369846.4_Missense_Mutation_p.G380W|LCA5_ENST00000467898.3_Missense_Mutation_p.G380W	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	380					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTAGAATCCCTGCTTCTCCA	0.373																																																	0													148.0	137.0	141.0					6																	80198894		2202	4299	6501	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1138G>T	6.37:g.80198894C>A	ENSP00000376686:p.Gly380Trp		E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.G380W	ENST00000392959.1	37	c.1138	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966562	0.34659	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32023	1.47;1.47	5.24	3.42	0.39159	.	1.401080	0.03868	N	0.275100	T	0.20820	0.0501	L	0.40543	1.245	0.24470	N	0.994398	D	0.63046	0.992	P	0.50192	0.634	T	0.27020	-1.0086	10	0.66056	D	0.02	0.4529	9.8119	0.40828	0.0:0.7817:0.1407:0.0776	.	380	Q86VQ0	LCA5_HUMAN	W	380	ENSP00000358861:G380W;ENSP00000376686:G380W	ENSP00000358861:G380W	G	-	1	0	LCA5	80255613	0.146000	0.22672	0.352000	0.25734	0.093000	0.18481	0.425000	0.21346	0.669000	0.31146	-0.140000	0.14226	GGG	LCA5	-	NULL		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	C	NM_181714		80198894	-1	no_errors	ENST00000369846	ensembl	human	known	70_37	missense	SNP	0.895	A
LOC400743	400743	genome.wustl.edu	37	1	17521085	17521085	+	lincRNA	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:17521085G>T	ENST00000412427.1	+	0	1649																											cctgttttgggctttctctgt	0.483																																																	0																																												400743																															1.37:g.17521085G>T				RNA	SNP	-	NULL	ENST00000412427.1	37	NULL		1																																																																																			RP11-380J14.1	-	-		0.483	RP11-380J14.1-001	KNOWN	basic	lincRNA	LOC400743	Clone_based_vega_gene	lincRNA	OTTHUMT00000006615.1	G			17521085	+1	no_errors	ENST00000412427	ensembl	human	known	70_37	rna	SNP	0.000	T
LPP	4026	genome.wustl.edu	37	3	188327575	188327575	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:188327575G>A	ENST00000312675.4	+	6	1302	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	LPP_ENST00000543006.1_Silent_p.K352K|LPP_ENST00000448637.1_Silent_p.K352K|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	352	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGTCCCAAGAAGACCTATA	0.522			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													41.0	42.0	42.0					3																	188327575		2202	4293	6495	SO:0001819	synonymous_variant	4026			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1056G>A	3.37:g.188327575G>A			A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K352	ENST00000312675.4	37	c.1056	CCDS3291.1	3																																																																																			LPP	-	NULL		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	G	NM_005578		188327575	+1	no_errors	ENST00000312675	ensembl	human	known	70_37	silent	SNP	1.000	A
LRP12	29967	genome.wustl.edu	37	8	105502134	105502134	+	3'UTR	SNP	T	T	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr8:105502134T>C	ENST00000276654.5	-	0	3455				LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_3'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)			TTTATAAAGTTCAAGATTTAA	0.343																																																	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.*767A>G	8.37:g.105502134T>C			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-		0.343	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	T	NM_013437		105502134	-1	no_errors	ENST00000518375	ensembl	human	putative	70_37	rna	SNP	1.000	C
LRRC15	131578	genome.wustl.edu	37	3	194080554	194080554	+	Missense_Mutation	SNP	C	C	T	rs376713863		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:194080554C>T	ENST00000347624.3	-	2	1304	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	LRRC15_ENST00000439944.2_Missense_Mutation_p.G413S|LRRC15_ENST00000428839.1_Missense_Mutation_p.G413S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	407					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCGAAGATGCCGAGGGGCAAG	0.572																																																	0								C	SER/GLY,SER/GLY	0,4406		0,0,2203	47.0	44.0	45.0		1237,1219	5.2	1.0	3		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	413/588,407/582	194080554	1,13005	2203	4300	6503	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1219G>A	3.37:g.194080554C>T	ENSP00000306276:p.Gly407Ser		Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G413S	ENST00000347624.3	37	c.1237	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001799	0.74932	0.0	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58940	0.3;0.3;0.3	5.2	5.2	0.72013	.	0.079119	0.53938	D	0.000060	T	0.67135	0.2861	L	0.47190	1.495	0.47949	D	0.999555	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.803	T	0.60156	-0.7318	10	0.19147	T	0.46	.	19.1087	0.93309	0.0:1.0:0.0:0.0	.	407;413	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	S	407;413;413	ENSP00000306276:G407S;ENSP00000389128:G413S;ENSP00000413707:G413S	ENSP00000306276:G407S	G	-	1	0	LRRC15	195561849	0.992000	0.36948	0.988000	0.46212	0.980000	0.70556	4.002000	0.57053	2.603000	0.88011	0.655000	0.94253	GGC	LRRC15	-	smart_Leu-rich_rpt_typical-subtyp		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	C			194080554	-1	no_errors	ENST00000439944	ensembl	human	known	70_37	missense	SNP	0.999	T
LRRC36	55282	genome.wustl.edu	37	16	67405106	67405106	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr16:67405106G>T	ENST00000329956.6	+	9	1474	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	LRRC36_ENST00000563189.1_Silent_p.L364L|LRRC36_ENST00000435835.3_Silent_p.L364L|LRRC36_ENST00000541146.1_Nonsense_Mutation_p.E10*|LRRC36_ENST00000290940.7_Silent_p.L217L	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	485										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTGCCAACCTGAATCTAAAGC	0.463																																																	0													141.0	128.0	133.0					16																	67405106		2198	4300	6498	SO:0001819	synonymous_variant	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1455G>T	16.37:g.67405106G>T			A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Nonsense_Mutation	SNP	NULL	p.E10*	ENST00000329956.6	37	c.28	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.756821	0.98471	.	.	ENSG00000159708	ENST00000541146	.	.	.	5.67	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2579	10.7549	0.46230	0.0875:0.0:0.9125:0.0	.	.	.	.	X	10	.	ENSP00000445861:E10X	E	+	1	0	LRRC36	65962607	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.668000	0.61568	1.420000	0.47138	-0.150000	0.13652	GAA	LRRC36	-	NULL		0.463	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	G	NM_018296		67405106	+1	no_errors	ENST00000541146	ensembl	human	known	70_37	nonsense	SNP	0.645	T
LRRC55	219527	genome.wustl.edu	37	11	56949990	56949990	+	Missense_Mutation	SNP	G	G	T	rs374511641		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:56949990G>T	ENST00000497933.1	+	1	770	c.623G>T	c.(622-624)cGa>cTa	p.R208L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	178					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGCAGCTCCGAGACCTGGAC	0.647																																																	0													53.0	53.0	53.0					11																	56949990		2201	4296	6497	SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.623G>T	11.37:g.56949990G>T	ENSP00000419542:p.Arg208Leu		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R208L	ENST00000497933.1	37	c.623	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156772	0.57259	.	.	ENSG00000183908	ENST00000497933	T	0.02552	4.25	5.91	5.0	0.66597	.	0.000000	0.49916	D	0.000126	T	0.12305	0.0299	M	0.72353	2.195	0.42468	D	0.992813	P	0.40083	0.702	P	0.56216	0.794	T	0.00177	-1.1952	10	0.72032	D	0.01	.	13.7982	0.63184	0.074:0.0:0.926:0.0	.	178	Q6ZSA7	LRC55_HUMAN	L	208	ENSP00000419542:R208L	ENSP00000419542:R208L	R	+	2	0	LRRC55	56706566	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.657000	0.46724	1.504000	0.48704	0.655000	0.94253	CGA	LRRC55	-	smart_Leu-rich_rpt_typical-subtyp		0.647	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	G	NM_001005210		56949990	+1	no_errors	ENST00000497933	ensembl	human	known	70_37	missense	SNP	1.000	T
MAT1A	4143	genome.wustl.edu	37	10	82034850	82034850	+	Missense_Mutation	SNP	G	G	A	rs372852106		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:82034850G>A	ENST00000372213.3	-	7	1134	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	292					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCAGCTGAGCGGTCTACCTTG	0.617																																																	0													37.0	37.0	37.0					10																	82034850		2201	4298	6499	SO:0001583	missense	4143				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.874C>T	10.37:g.82034850G>A	ENSP00000361287:p.Arg292Cys		D3DWD5|Q5QP09	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.R292C	ENST00000372213.3	37	c.874	CCDS7365.1	10	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672492	0.88348	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.99158	-5.5	4.99	4.99	0.66335	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97700	1.0184	10	0.87932	D	0	-26.8382	16.1234	0.81377	0.0:0.0:1.0:0.0	.	292	Q00266	METK1_HUMAN	C	292	ENSP00000361287:R292C	ENSP00000361280:R292C	R	-	1	0	MAT1A	82024830	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.589000	0.82641	2.484000	0.83849	0.563000	0.77884	CGC	MAT1A	-	pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase		0.617	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT1A	HGNC	protein_coding	OTTHUMT00000049070.1	G	NM_000429		82034850	-1	no_errors	ENST00000372206	ensembl	human	known	70_37	missense	SNP	1.000	A
MCFD2	90411	genome.wustl.edu	37	2	47135004	47135004	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:47135004T>C	ENST00000409105.1	-	4	433	c.254A>G	c.(253-255)aAt>aGt	p.N85S	MCFD2_ENST00000409207.1_Missense_Mutation_p.N85S|MCFD2_ENST00000409147.1_Missense_Mutation_p.N33S|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000444761.2_Missense_Mutation_p.N66S|MCFD2_ENST00000409218.1_Missense_Mutation_p.N85S|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409913.1_Missense_Mutation_p.N33S|MCFD2_ENST00000409800.1_Missense_Mutation_p.N33S|MCFD2_ENST00000409973.1_Missense_Mutation_p.N85S|MCFD2_ENST00000319466.4_Missense_Mutation_p.N85S	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	85	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	AAGCAAATTATTGCCATCATA	0.463																																																	0													157.0	135.0	142.0					2																	47135004		2203	4300	6503	SO:0001583	missense	90411			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.254A>G	2.37:g.47135004T>C	ENSP00000386651:p.Asn85Ser		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.N85S	ENST00000409105.1	37	c.254	CCDS33192.1	2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902461	0.92035	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438;ENST00000434262	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.46	5.46	0.80206	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	D	0.87560	0.2471	10	0.40728	T	0.16	-9.8862	15.3706	0.74560	0.0:0.0:0.0:1.0	.	66;85	E9PD95;Q8NI22	.;MCFD2_HUMAN	S	66;85;33;85;33;85;85;33;85;85;52	ENSP00000394647:N66S;ENSP00000386651:N85S;ENSP00000386941:N33S;ENSP00000317271:N85S;ENSP00000387202:N33S;ENSP00000386386:N85S;ENSP00000386279:N85S;ENSP00000387082:N33S;ENSP00000386261:N85S;ENSP00000402717:N85S;ENSP00000387360:N52S	ENSP00000317271:N85S	N	-	2	0	MCFD2	46988508	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.466000	0.80914	2.291000	0.77112	0.533000	0.62120	AAT	MCFD2	-	NULL		0.463	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	HGNC	protein_coding	OTTHUMT00000329518.1	T	NM_139279		47135004	-1	no_errors	ENST00000319466	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH10	4628	genome.wustl.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-	rs146612839		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																																	0																																										SO:0001651	inframe_deletion	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1378in_frame_del	ENST00000269243.4	37	c.4135_4133	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail		0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	CCT			8397097	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
MYH6	4624	genome.wustl.edu	37	14	23853875	23853875	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:23853875G>T	ENST00000356287.3	-	35	5370	c.5341C>A	c.(5341-5343)Ctg>Atg	p.L1781M	MYH6_ENST00000405093.3_Missense_Mutation_p.L1781M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1781					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGCGCTCCAGGTGGGCGCTG	0.632																																																	0													83.0	83.0	83.0					14																	23853875		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5341C>A	14.37:g.23853875G>T	ENSP00000348634:p.Leu1781Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1781M	ENST00000356287.3	37	c.5341	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	24.7	4.557565	0.86231	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80653	-1.4;-1.4	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.91362	0.7275	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92787	0.6245	9	0.62326	D	0.03	.	18.2942	0.90139	0.0:0.0:1.0:0.0	.	1781	P13533	MYH6_HUMAN	M	1781	ENSP00000386041:L1781M;ENSP00000348634:L1781M	ENSP00000348634:L1781M	L	-	1	2	MYH6	22923715	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.992000	0.56980	2.395000	0.81488	0.561000	0.74099	CTG	MYH6	-	pfam_Myosin_tail		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	G			23853875	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16889985	16889985	+	3'UTR	SNP	T	T	C	rs6603880	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:16889985T>C	ENST00000430580.2	-	0	4760					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATCCCTCCTGTGTTAAAGATG	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*453A>G	1.37:g.16889985T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	T	NM_017940		16889985	-1	no_errors	ENST00000401007	ensembl	human	known	70_37	rna	SNP	0.040	C
NEMF	9147	genome.wustl.edu	37	14	50269245	50269245	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:50269245C>T	ENST00000298310.5	-	22	2470	c.2021G>A	c.(2020-2022)aGa>aAa	p.R674K	NEMF_ENST00000546046.1_Missense_Mutation_p.R653K|NEMF_ENST00000545773.1_Missense_Mutation_p.R632K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	674					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATCCTGTACTCTGACTTTTCG	0.363																																																	0													143.0	128.0	133.0					14																	50269245		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2021G>A	14.37:g.50269245C>T	ENSP00000298310:p.Arg674Lys		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.R674K	ENST00000298310.5	37	c.2021	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116198	0.37339	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47177	0.86;0.85;0.87;0.85	5.27	4.38	0.52667	.	0.120261	0.53938	D	0.000041	T	0.17492	0.0420	N	0.03154	-0.405	0.80722	D	1	B;B;B;B	0.11235	0.0;0.004;0.0;0.0	B;B;B;B	0.15052	0.002;0.012;0.002;0.001	T	0.27054	-1.0085	10	0.02654	T	1	-20.7092	5.3742	0.16156	0.0:0.7148:0.0:0.2852	.	653;649;632;674	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	K	674;632;653;446;632	ENSP00000298310:R674K;ENSP00000438309:R632K;ENSP00000441016:R653K;ENSP00000452540:R632K	ENSP00000298310:R674K	R	-	2	0	NEMF	49338995	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.866000	0.56040	2.487000	0.83934	0.579000	0.79373	AGA	NEMF	-	NULL		0.363	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50269245	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T
NKAPL	222698	genome.wustl.edu	37	6	28227227	28227227	+	Silent	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:28227227C>T	ENST00000343684.3	+	1	130	c.78C>T	c.(76-78)agC>agT	p.S26S	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	26										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCTCGGGGAGCCCACCATCCC	0.667																																																	0													35.0	34.0	34.0					6																	28227227		2203	4300	6503	SO:0001819	synonymous_variant	222698			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.78C>T	6.37:g.28227227C>T			Q3MIV1|Q9H4Q7	Silent	SNP	pfam_DUF926	p.S26	ENST00000343684.3	37	c.78	CCDS34353.1	6																																																																																			NKAPL	-	NULL		0.667	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	C			28227227	+1	no_errors	ENST00000343684	ensembl	human	known	70_37	silent	SNP	0.781	T
NRAP	4892	genome.wustl.edu	37	10	115383353	115383353	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:115383353A>C	ENST00000359988.3	-	23	2636	c.2392T>G	c.(2392-2394)Ttt>Gtt	p.F798V	NRAP_ENST00000360478.3_Missense_Mutation_p.F763V|NRAP_ENST00000369360.3_Missense_Mutation_p.F771V|NRAP_ENST00000369358.4_Missense_Mutation_p.F806V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGCAGCTCAAACCCTTTTGCT	0.512																																																	0													161.0	149.0	153.0					10																	115383353		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2392T>G	10.37:g.115383353A>C	ENSP00000353078:p.Phe798Val			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.F806V	ENST00000359988.3	37	c.2416	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528490	0.85706	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.16897	2.5;2.51;2.41;2.31	5.87	5.87	0.94306	.	0.096199	0.64402	D	0.000001	T	0.43875	0.1267	M	0.83012	2.62	0.50467	D	0.999873	D;D;D	0.59357	0.985;0.971;0.974	P;P;P	0.61533	0.869;0.89;0.78	T	0.46569	-0.9182	10	0.72032	D	0.01	.	15.9211	0.79575	1.0:0.0:0.0:0.0	.	798;763;798	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	806;771;798;763	ENSP00000358365:F806V;ENSP00000358367:F771V;ENSP00000353078:F798V;ENSP00000353666:F763V	ENSP00000353078:F798V	F	-	1	0	NRAP	115373343	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	6.545000	0.73883	2.243000	0.73865	0.533000	0.62120	TTT	NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	A	NM_006175		115383353	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	missense	SNP	0.996	C
OR7G1	125962	genome.wustl.edu	37	19	9225977	9225977	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:9225977C>T	ENST00000541538.1	-	1	462	c.463G>A	c.(463-465)Gat>Aat	p.D155N	OR7G1_ENST00000293614.1_Missense_Mutation_p.D155N	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ACCAGGGCATCCATAGTGCTC	0.488																																																	0													104.0	99.0	101.0					19																	9225977		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.463G>A	19.37:g.9225977C>T	ENSP00000444134:p.Asp155Asn		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D155N	ENST00000541538.1	37	c.463	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	c	0.220	-1.029055	0.02045	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.36520	1.25;1.25	3.78	-4.69	0.03299	GPCR, rhodopsin-like superfamily (1);	0.627047	0.12918	N	0.428415	T	0.10035	0.0246	N	0.04018	-0.295	0.09310	N	1	B	0.13594	0.008	B	0.25405	0.06	T	0.30357	-0.9981	10	0.02654	T	1	.	1.4948	0.02464	0.1232:0.2297:0.2431:0.404	.	155	Q8NGA0	OR7G1_HUMAN	N	155	ENSP00000293614:D155N;ENSP00000444134:D155N	ENSP00000293614:D155N	D	-	1	0	OR7G1	9086977	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.359000	0.00498	-0.876000	0.04017	0.501000	0.49751	GAT	OR7G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	C			9225977	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	missense	SNP	0.000	T
OSMR	9180	genome.wustl.edu	37	5	38884119	38884119	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:38884119G>T	ENST00000274276.3	+	5	1011	c.609G>T	c.(607-609)gtG>gtT	p.V203V	OSMR_ENST00000502536.1_Silent_p.V203V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	203					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAATAGTGTGCCTTTCATTA	0.368																																																	0													163.0	152.0	156.0					5																	38884119		2203	4300	6503	SO:0001819	synonymous_variant	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.609G>T	5.37:g.38884119G>T			Q6P4E8|Q96QJ6	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V203	ENST00000274276.3	37	c.609	CCDS3928.1	5																																																																																			OSMR	-	NULL		0.368	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	G	NM_003999		38884119	+1	no_errors	ENST00000274276	ensembl	human	known	70_37	silent	SNP	0.000	T
OTOGL	283310	genome.wustl.edu	37	12	80714324	80714324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:80714324delT	ENST00000547103.1	+	33	3904	c.3898delT	c.(3898-3900)tttfs	p.F1301fs	OTOGL_ENST00000458043.2_Frame_Shift_Del_p.F1301fs			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1301					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAGAGCAACATTTTTCCACCA	0.433																																																	0													80.0	77.0	78.0					12																	80714324		1896	4119	6015	SO:0001589	frameshift_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3898delT	12.37:g.80714324delT	ENSP00000447211:p.Phe1301fs		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.F1301fs	ENST00000547103.1	37	c.3898		12																																																																																			OTOGL	-	pfam_AbfB,superfamily_AbfB		0.433	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	T	NM_173591		80714324	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
PACS2	23241	genome.wustl.edu	37	14	105848285	105848285	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:105848285A>G	ENST00000325438.8	+	13	1807	c.1303A>G	c.(1303-1305)Agc>Ggc	p.S435G	PACS2_ENST00000547217.1_Missense_Mutation_p.S405G|PACS2_ENST00000447393.1_Missense_Mutation_p.S435G|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Missense_Mutation_p.S435G|PACS2_ENST00000430725.2_Missense_Mutation_p.S360G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	435					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGGGGCCGGAGCACATCCTT	0.677																																																	0													22.0	21.0	21.0					14																	105848285		2104	4137	6241	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1303A>G	14.37:g.105848285A>G	ENSP00000321834:p.Ser435Gly		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S435G	ENST00000325438.8	37	c.1303	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273445	0.59649	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.31510	1.69;1.68;1.49;1.49;1.68	4.71	3.56	0.40772	.	0.082373	0.85682	D	0.000000	T	0.46386	0.1390	L	0.53249	1.67	0.80722	D	1	B;B;D;D	0.63046	0.058;0.166;0.969;0.992	B;B;P;D	0.74674	0.049;0.169;0.725;0.984	T	0.35400	-0.9790	10	0.59425	D	0.04	-24.6575	9.3721	0.38261	0.9125:0.0:0.0875:0.0	.	435;435;435;436	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	G	360;435;435;435;405	ENSP00000393524:S360G;ENSP00000321834:S435G;ENSP00000399732:S435G;ENSP00000393559:S435G;ENSP00000449525:S405G	ENSP00000321834:S435G	S	+	1	0	PACS2	104919330	1.000000	0.71417	0.991000	0.47740	0.422000	0.31414	7.158000	0.77470	0.750000	0.32877	0.528000	0.53228	AGC	PACS2	-	NULL		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	A	XM_377355		105848285	+1	no_errors	ENST00000458164	ensembl	human	known	70_37	missense	SNP	1.000	G
PGR	5241	genome.wustl.edu	37	11	100912793	100912793	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:100912793C>G	ENST00000325455.5	-	7	3982	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	PGR_ENST00000534013.1_Missense_Mutation_p.E249D|PGR_ENST00000263463.5_Missense_Mutation_p.E741D	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	843	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGACCTCATCTCCTCAAACT	0.388																																					Pancreas(124;2271 2354 21954 22882)												0													95.0	92.0	93.0					11																	100912793		2203	4300	6503	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2529G>C	11.37:g.100912793C>G	ENSP00000325120:p.Glu843Asp		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E843D	ENST00000325455.5	37	c.2529	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830434	0.50845	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.96554	-4.05;-4.05;-4.05	5.49	-1.34	0.09143	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.114616	0.64402	D	0.000019	D	0.94079	0.8102	M	0.82323	2.585	0.33003	D	0.526553	B;B;B	0.27882	0.026;0.192;0.006	B;B;B	0.36567	0.228;0.154;0.017	D	0.85123	0.0970	10	0.18276	T	0.48	.	2.033	0.03534	0.1207:0.4075:0.1176:0.3541	.	741;843;224	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	D	843;249;741	ENSP00000325120:E843D;ENSP00000436561:E249D;ENSP00000263463:E741D	ENSP00000263463:E741D	E	-	3	2	PGR	100418003	0.383000	0.25156	0.975000	0.42487	0.990000	0.78478	-0.256000	0.08757	-0.569000	0.06030	0.585000	0.79938	GAG	PGR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.388	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	C			100912793	-1	no_errors	ENST00000325455	ensembl	human	known	70_37	missense	SNP	0.936	G
PIP5K1C	23396	genome.wustl.edu	37	19	3656474	3656474	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:3656474C>T	ENST00000335312.3	-	6	638	c.550G>A	c.(550-552)Gag>Aag	p.E184K	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E184K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E184K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E184K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	184	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATGATGAACTCGTCGTCGCTG	0.627																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													81.0	82.0	82.0					19																	3656474		2203	4300	6503	SO:0001583	missense	23396			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.550G>A	19.37:g.3656474C>T	ENSP00000335333:p.Glu184Lys		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E184K	ENST00000335312.3	37	c.550	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652344	0.88056	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.27256	1.68;1.68;1.68	4.22	4.22	0.49857	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.36249	0.545;0.332	B;B	0.28553	0.055;0.091	T	0.10543	-1.0625	10	0.66056	D	0.02	-39.1041	15.9238	0.79597	0.0:1.0:0.0:0.0	.	184;184	O60331-3;O60331	.;PI51C_HUMAN	K	184	ENSP00000335333:E184K;ENSP00000445992:E184K;ENSP00000444779:E184K	ENSP00000335333:E184K	E	-	1	0	PIP5K1C	3607474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.568000	0.82369	2.067000	0.61834	0.561000	0.74099	GAG	PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.627	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	C	NM_012398		3656474	-1	no_errors	ENST00000537021	ensembl	human	known	70_37	missense	SNP	1.000	T
PPM1E	22843	genome.wustl.edu	37	17	56833497	56833497	+	Missense_Mutation	SNP	C	C	T	rs61052860		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:56833497C>T	ENST00000308249.2	+	1	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			cgagtccgagcccgagcccga	0.701																																																	0													15.0	17.0	16.0					17																	56833497		2188	4270	6458	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.139C>T	17.37:g.56833497C>T	ENSP00000312411:p.Pro47Ser		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.P47S	ENST00000308249.2	37	c.139	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100828	0.20552	.	.	ENSG00000175175	ENST00000308249	T	0.22336	1.96	4.15	3.1	0.35709	.	.	.	.	.	T	0.09202	0.0227	N	0.14661	0.345	0.23192	N	0.998149	P	0.36909	0.573	B	0.32342	0.144	T	0.08452	-1.0721	9	0.02654	T	1	1.9125	10.3339	0.43839	0.0:0.7991:0.2009:0.0	rs61052860	47	Q8WY54-2	.	S	47	ENSP00000312411:P47S	ENSP00000312411:P47S	P	+	1	0	PPM1E	54188496	0.741000	0.28217	1.000000	0.80357	0.229000	0.25112	1.208000	0.32345	2.017000	0.59298	0.462000	0.41574	CCC	PPM1E	-	NULL		0.701	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	C	NM_014906		56833497	+1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	0.999	T
PRICKLE1	144165	genome.wustl.edu	37	12	42858228	42858228	+	Silent	SNP	C	C	T	rs144062651	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:42858228C>T	ENST00000455697.1	-	7	1893	c.1608G>A	c.(1606-1608)tcG>tcA	p.S536S	PRICKLE1_ENST00000548696.1_Silent_p.S536S|PRICKLE1_ENST00000345127.3_Silent_p.S536S|PRICKLE1_ENST00000552240.1_Silent_p.S536S|PRICKLE1_ENST00000445766.2_Silent_p.S536S|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	536					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AAGAATCCATCGAATCCCGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		20491	0.0		0.0	False		,,,				2504	0.002																0								C	,,,	1,4405	4.2+/-10.8	0,1,2202	164.0	164.0	164.0		1608,1608,1608,1608	-2.8	1.0	12	dbSNP_134	164	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRICKLE1	NM_001144881.1,NM_001144882.1,NM_001144883.1,NM_153026.2	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	536/832,536/832,536/832,536/832	42858228	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	144165			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1608G>A	12.37:g.42858228C>T			Q14C83|Q71QF8|Q96N00	Silent	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S536	ENST00000455697.1	37	c.1608	CCDS8742.1	12																																																																																			PRICKLE1	-	NULL		0.408	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	C			42858228	-1	no_errors	ENST00000345127	ensembl	human	known	70_37	silent	SNP	0.941	T
PRPF3	9129	genome.wustl.edu	37	1	150307413	150307413	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:150307413G>C	ENST00000324862.6	+	7	901	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	PRPF3_ENST00000414970.2_Missense_Mutation_p.E197Q|PRPF3_ENST00000543398.1_Missense_Mutation_p.E111Q|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	246					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGGAAGGTGGAGTTAAAAGA	0.473																																					Ovarian(168;1070 2670 5178 20729)												0													55.0	51.0	52.0					1																	150307413		2203	4300	6503	SO:0001583	missense	9129			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.736G>C	1.37:g.150307413G>C	ENSP00000315379:p.Glu246Gln		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.E246Q	ENST00000324862.6	37	c.736	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609323	0.66558	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.77620	-1.11;-1.09	6.08	5.16	0.70880	.	0.196329	0.52532	D	0.000069	T	0.54532	0.1864	L	0.44542	1.39	0.80722	D	1	P;P	0.45531	0.86;0.751	B;B	0.36335	0.222;0.099	T	0.57046	-0.7878	10	0.14656	T	0.56	-20.5871	14.8236	0.70091	0.0683:0.0:0.9317:0.0	.	197;246	E7EVD1;O43395	.;PRPF3_HUMAN	Q	246;197;111	ENSP00000315379:E246Q;ENSP00000387844:E197Q	ENSP00000315379:E246Q	E	+	1	0	PRPF3	148574037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.355000	0.79434	2.894000	0.99253	0.655000	0.94253	GAG	PRPF3	-	NULL		0.473	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	G	NM_004698		150307413	+1	no_errors	ENST00000324862	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR12	57479	genome.wustl.edu	37	19	50102572	50102572	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:50102572C>G	ENST00000418929.2	+	5	3734	c.3722C>G	c.(3721-3723)tCa>tGa	p.S1241*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGGGAACCTCATCGGGTGAT	0.612																																																	0													30.0	31.0	31.0					19																	50102572		2053	4209	6262	SO:0001587	stop_gained	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3722C>G	19.37:g.50102572C>G	ENSP00000394510:p.Ser1241*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.S1241*	ENST00000418929.2	37	c.3722	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.526798	0.97637	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.85	3.76	0.43208	.	0.584335	0.14360	N	0.324464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-8.4697	9.8963	0.41320	0.0:0.8908:0.0:0.1092	.	.	.	.	X	1241;421;421	.	ENSP00000246798:S421X	S	+	2	0	PRR12	54794384	0.013000	0.17824	0.033000	0.17914	0.119000	0.20118	1.772000	0.38552	2.527000	0.85204	0.563000	0.77884	TCA	PRR12	-	NULL		0.612	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50102572	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	nonsense	SNP	0.001	G
RABEPK	10244	genome.wustl.edu	37	9	127990332	127990332	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:127990332G>C	ENST00000373538.3	+	6	980	c.670G>C	c.(670-672)Gat>Cat	p.D224H	RABEPK_ENST00000394125.4_Missense_Mutation_p.D224H|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.D173H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	224					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCACTGCATTGATATAAGTAA	0.453																																																	0													47.0	48.0	48.0					9																	127990332		2203	4300	6503	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.670G>C	9.37:g.127990332G>C	ENSP00000362639:p.Asp224His		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.D224H	ENST00000373538.3	37	c.670	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317991	0.81469	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.77098	-1.07;-1.07;-1.07	5.13	5.13	0.70059	Kelch-type beta propeller (1);	0.185893	0.56097	D	0.000023	D	0.90086	0.6903	M	0.93678	3.445	0.80722	D	1	D;D;D	0.63880	0.984;0.993;0.984	P;P;P	0.60117	0.842;0.869;0.842	D	0.92385	0.5916	10	0.72032	D	0.01	-10.0124	17.9158	0.88950	0.0:0.0:1.0:0.0	.	224;173;224	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	H	224;173;224	ENSP00000377683:D224H;ENSP00000259460:D173H;ENSP00000362639:D224H	ENSP00000259460:D173H	D	+	1	0	RABEPK	127030153	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.084000	0.76866	2.711000	0.92665	0.632000	0.83419	GAT	RABEPK	-	pfam_Kelch_1		0.453	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	G	NM_005833		127990332	+1	no_errors	ENST00000373538	ensembl	human	known	70_37	missense	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-	rs367661403		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACATTTTTCATATGTCTTTAT	0.238		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI030637|CI071455|CM016043	RB1	I|M																																				SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.M484fs	ENST00000267163.4	37	c.1448_1449	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	AT			48954328	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
RCC2	55920	genome.wustl.edu	37	1	17735520	17735520	+	3'UTR	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:17735520G>A	ENST00000375436.4	-	0	1822				RCC2_ENST00000375433.3_3'UTR|RCC2_ENST00000474892.1_5'UTR|RP1-20B21.4_ENST00000439577.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2						chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TTGACTTCCCGTCCCAGTGCA	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	55920				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.*66C>T	1.37:g.17735520G>A			Q8IVL9|Q9BSN6|Q9NPV8	RNA	SNP	-	NULL	ENST00000375436.4	37	NULL	CCDS181.1	1																																																																																			RCC2	-	-		0.493	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	G	NM_018715		17735520	-1	no_errors	ENST00000474892	ensembl	human	known	70_37	rna	SNP	0.888	A
RFX1	5989	genome.wustl.edu	37	19	14074708	14074708	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr19:14074708G>A	ENST00000254325.4	-	17	2557	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	775	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			AGGTCGCTCAGCATCTGGTTG	0.711																																																	0													34.0	19.0	24.0					19																	14074708		2114	4151	6265	SO:0001819	synonymous_variant	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2323C>T	19.37:g.14074708G>A				Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.L775	ENST00000254325.4	37	c.2323	CCDS12301.1	19																																																																																			RFX1	-	NULL		0.711	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	G	NM_002918		14074708	-1	no_errors	ENST00000254325	ensembl	human	known	70_37	silent	SNP	1.000	A
ROBO1	6091	genome.wustl.edu	37	3	78676546	78676546	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:78676546G>T	ENST00000464233.1	-	26	3913	c.3800C>A	c.(3799-3801)cCa>cAa	p.P1267Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1222Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1167Q|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1228Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1267					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTTCCTGTGGGGAGGGAGT	0.577																																																	0													51.0	60.0	57.0					3																	78676546		2169	4269	6438	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3800C>A	3.37:g.78676546G>T	ENSP00000420321:p.Pro1267Gln		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1267Q	ENST00000464233.1	37	c.3800	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413683	0.62511	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63255	0.06;0.04;0.06;-0.03	5.29	4.4	0.53042	.	0.049366	0.85682	D	0.000000	T	0.67439	0.2893	L	0.32530	0.975	0.58432	D	0.999998	B;D;D;D;P	0.69078	0.354;0.985;0.99;0.997;0.876	B;P;P;D;P	0.63597	0.403;0.84;0.854;0.916;0.646	T	0.66064	-0.6016	9	.	.	.	.	15.5728	0.76354	0.0:0.0:0.8609:0.139	.	1231;1267;1222;1167;1228	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Q	1228;1222;1267;1222;1167;1271	ENSP00000406043:P1228Q;ENSP00000420321:P1267Q;ENSP00000420637:P1222Q;ENSP00000417992:P1167Q	.	P	-	2	0	ROBO1	78759236	1.000000	0.71417	0.807000	0.32361	0.235000	0.25334	7.818000	0.86416	1.340000	0.45581	-0.314000	0.08810	CCA	ROBO1	-	NULL		0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78676546	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	0.998	T
SEPSECS	51091	genome.wustl.edu	37	4	25125674	25125674	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr4:25125674C>G	ENST00000382103.2	-	11	1457	c.1385G>C	c.(1384-1386)aGa>aCa	p.R462T	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Missense_Mutation_p.R383T	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	462					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TCGTTCTTTTCTTACTGCCTT	0.383																																																	0													237.0	206.0	216.0					4																	25125674		2203	4300	6503	SO:0001583	missense	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1385G>C	4.37:g.25125674C>G	ENSP00000371535:p.Arg462Thr		A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Sec-tRNA_Se_transferase	p.R462T	ENST00000382103.2	37	c.1385	CCDS3432.2	4	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696635	0.48202	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82984	-1.67;-1.67	5.53	3.81	0.43845	Pyridoxal phosphate-dependent transferase, major domain (1);	0.256900	0.45867	D	0.000329	T	0.63896	0.2550	N	0.14661	0.345	0.42064	D	0.991179	P;B;B	0.38129	0.619;0.32;0.132	B;B;B	0.22880	0.042;0.012;0.013	T	0.63625	-0.6595	10	0.48119	T	0.1	-22.4081	10.3864	0.44143	0.0:0.8489:0.0:0.1511	.	461;402;462	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	T	383;462	ENSP00000305956:R383T;ENSP00000371535:R462T	ENSP00000305956:R383T	R	-	2	0	SEPSECS	24734772	0.913000	0.31002	0.972000	0.41901	0.976000	0.68499	1.632000	0.37102	0.694000	0.31654	0.591000	0.81541	AGA	SEPSECS	-	superfamily_PyrdxlP-dep_Trfase_major_dom		0.383	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPSECS	HGNC	protein_coding	OTTHUMT00000250414.2	C	NM_016955		25125674	-1	no_errors	ENST00000382103	ensembl	human	known	70_37	missense	SNP	0.996	G
SLC6A7	6534	genome.wustl.edu	37	5	149583497	149583497	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr5:149583497G>T	ENST00000230671.2	+	10	1599	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A410S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	410					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATTGTGACAGCTGTGACAGA	0.547																																																	0													97.0	73.0	81.0					5																	149583497		2203	4300	6503	SO:0001583	missense	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1228G>T	5.37:g.149583497G>T	ENSP00000230671:p.Ala410Ser		Q0VG81|Q52LU6	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A410S	ENST00000230671.2	37	c.1228	CCDS4305.1	5	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345948	0.61073	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76839	-1.05;-1.05	5.04	3.16	0.36331	.	0.099525	0.64402	N	0.000002	T	0.73598	0.3607	L	0.48362	1.52	0.50813	D	0.999897	P	0.41366	0.747	P	0.44647	0.456	T	0.68534	-0.5383	10	0.35671	T	0.21	.	11.3782	0.49741	0.0:0.1374:0.7197:0.1429	.	410	Q99884	SC6A7_HUMAN	S	410	ENSP00000230671:A410S;ENSP00000428200:A410S	ENSP00000230671:A410S	A	+	1	0	SLC6A7	149563690	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	4.494000	0.60347	0.451000	0.26802	0.561000	0.74099	GCT	SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.547	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	G	NM_014228		149583497	+1	no_errors	ENST00000230671	ensembl	human	known	70_37	missense	SNP	0.978	T
SLCO4A1	28231	genome.wustl.edu	37	20	61291826	61291826	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr20:61291826C>T	ENST00000370507.1	+	3	1046	c.950C>T	c.(949-951)tCt>tTt	p.S317F	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.S317F|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	317					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCTGGGCTCTGGGGCCGCT	0.662																																					Pancreas(168;741 2006 10379 40139 45334)												0													57.0	56.0	56.0					20																	61291826		2203	4300	6503	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.950C>T	20.37:g.61291826C>T	ENSP00000359538:p.Ser317Phe		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S317F	ENST00000370507.1	37	c.950	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870899	0.17322	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.40756	1.02;1.02	4.5	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.407067	0.26478	N	0.024155	T	0.42268	0.1195	L	0.51422	1.61	0.09310	N	0.999999	B	0.20988	0.05	B	0.29267	0.1	T	0.32268	-0.9913	10	0.32370	T	0.25	.	17.182	0.86857	0.0:1.0:0.0:0.0	.	317	Q96BD0	SO4A1_HUMAN	F	317	ENSP00000217159:S317F;ENSP00000359538:S317F	ENSP00000217159:S317F	S	+	2	0	SLCO4A1	60762271	0.546000	0.26457	0.004000	0.12327	0.023000	0.10783	4.549000	0.60726	2.046000	0.60703	0.561000	0.74099	TCT	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	C	NM_016354		61291826	+1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	0.157	T
SNW1	22938	genome.wustl.edu	37	14	78189584	78189584	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:78189584T>A	ENST00000261531.7	-	11	1132	c.1070A>T	c.(1069-1071)cAt>cTt	p.H357L	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.H195L|SNW1_ENST00000555761.1_Missense_Mutation_p.H357L	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	357					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCGCCTGTCATGCCGGATTTC	0.468																																																	0													161.0	127.0	138.0					14																	78189584		2203	4300	6503	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1070A>T	14.37:g.78189584T>A	ENSP00000261531:p.His357Leu		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.H357L	ENST00000261531.7	37	c.1070	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260626	0.59431	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.39085	1.19	0.58432	D	0.999999	B;B	0.23650	0.001;0.089	B;B	0.19946	0.007;0.027	T	0.47724	-0.9095	9	0.25751	T	0.34	.	15.7631	0.78103	0.0:0.0:0.0:1.0	.	357;357	G3V3A4;Q13573	.;SNW1_HUMAN	L	357;195;357	.	ENSP00000261531:H357L	H	-	2	0	SNW1	77259337	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.774000	0.85478	2.126000	0.65437	0.377000	0.23210	CAT	SNW1	-	NULL		0.468	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	T	NM_012245		78189584	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	missense	SNP	1.000	A
SNW1	22938	genome.wustl.edu	37	14	78205174	78205174	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr14:78205174G>T	ENST00000261531.7	-	5	542	c.480C>A	c.(478-480)gcC>gcA	p.A160A	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_5'UTR|SNW1_ENST00000555761.1_Silent_p.A160A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	160					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCATGGCTGCGGCGACCTTCT	0.408																																																	0													80.0	82.0	81.0					14																	78205174		2203	4300	6503	SO:0001819	synonymous_variant	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.480C>A	14.37:g.78205174G>T			A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.A160	ENST00000261531.7	37	c.480	CCDS9867.1	14																																																																																			SNW1	-	NULL		0.408	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	G	NM_012245		78205174	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	silent	SNP	0.855	T
SPIN2B	474343	genome.wustl.edu	37	X	57146635	57146635	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chrX:57146635G>A	ENST00000333933.3	-	2	738	c.428C>T	c.(427-429)tCt>tTt	p.S143F	SPIN2B_ENST00000374912.5_Missense_Mutation_p.S143F|SPIN2B_ENST00000275988.5_Missense_Mutation_p.S143F|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374910.3_Intron|SPIN2B_ENST00000460948.1_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	143					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTCATCCTTAGAACCATGCTC	0.433																																																	0													144.0	124.0	131.0					X																	57146635		2200	4296	6496	SO:0001583	missense	474343			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.428C>T	X.37:g.57146635G>A	ENSP00000335008:p.Ser143Phe		Q7Z2M0	Missense_Mutation	SNP	pfam_Spin_Ssty	p.S143F	ENST00000333933.3	37	c.428	CCDS35311.1	X	.	.	.	.	.	.	.	.	.	.	g	14.10	2.433325	0.43224	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	2.37	2.37	0.29283	.	0.250013	0.35013	N	0.003509	T	0.36248	0.0960	L	0.60455	1.87	0.33180	D	0.549455	P	0.41188	0.741	B	0.28916	0.096	T	0.59663	-0.7412	10	0.87932	D	0	-10.7942	10.1693	0.42900	0.0:0.0:1.0:0.0	.	143	Q9BPZ2	SPI2B_HUMAN	F	143	ENSP00000275988:S143F;ENSP00000364047:S143F;ENSP00000335008:S143F;ENSP00000404314:S143F	ENSP00000275988:S143F	S	-	2	0	SPIN2B	57163360	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	8.015000	0.88690	1.500000	0.48636	0.171000	0.16805	TCT	SPIN2B	-	pfam_Spin_Ssty		0.433	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2B	HGNC	protein_coding	OTTHUMT00000056912.1	G	NM_001006681		57146635	-1	no_errors	ENST00000275988	ensembl	human	known	70_37	missense	SNP	1.000	A
SZRD1	26099	genome.wustl.edu	37	1	16719862	16719862	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:16719862C>A	ENST00000401088.4	+	3	416	c.241C>A	c.(241-243)Ccc>Acc	p.P81T	SZRD1_ENST00000375590.3_Missense_Mutation_p.P61T|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.P80T|SZRD1_ENST00000492354.1_Missense_Mutation_p.P61T|SZRD1_ENST00000401089.3_Missense_Mutation_p.P62T|SPATA21_ENST00000466212.1_5'Flank	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	81	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																CACCAGCAGGCCCACCCTTCC	0.672																																																	0													39.0	46.0	44.0					1																	16719862		2051	4192	6243	SO:0001583	missense	26099			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.241C>A	1.37:g.16719862C>A	ENSP00000383866:p.Pro81Thr		A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	NULL	p.P61T	ENST00000401088.4	37	c.181	CCDS44065.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.202612	0.94997	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.1	5.1	0.69264	SUZ domain (1);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.91635	0.999;0.998;0.974;0.943	T	0.71144	-0.4678	10	0.72032	D	0.01	-1.1589	17.8804	0.88839	0.0:1.0:0.0:0.0	.	61;81;61;62	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	T	81;80;62;81;61;61	ENSP00000383866:P81T;ENSP00000419589:P80T;ENSP00000383867:P62T;ENSP00000364740:P61T;ENSP00000418012:P61T	ENSP00000364740:P61T	P	+	1	0	C1orf144	16592449	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.952000	0.75989	2.527000	0.85204	0.561000	0.74099	CCC	SZRD1	-	NULL		0.672	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	C	NM_015609		16719862	+1	no_errors	ENST00000375590	ensembl	human	known	70_37	missense	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43895462	43895462	+	Missense_Mutation	SNP	G	G	A	rs202088024		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:43895462G>A	ENST00000562955.1	+	28	4084	c.4084G>A	c.(4084-4086)Gat>Aat	p.D1362N	SZT2_ENST00000372442.1_Missense_Mutation_p.D520N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1419					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCTGACAGATGTCTGCCA	0.572																																																	0													80.0	76.0	77.0					1																	43895462		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4084G>A	1.37:g.43895462G>A	ENSP00000457168:p.Asp1362Asn		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.D1362N	ENST00000562955.1	37	c.4084	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214445	0.79352	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.7	5.7	0.88788	.	0.376332	0.27189	N	0.020505	T	0.34745	0.0908	N	0.08118	0	0.27609	N	0.948712	P	0.44139	0.827	P	0.49192	0.602	T	0.22173	-1.0224	9	0.27082	T	0.32	.	17.6201	0.88078	0.0:0.0:1.0:0.0	.	1362	Q5T011-5	.	N	520	.	ENSP00000361519:D520N	D	+	1	0	SZT2	43668049	0.991000	0.36638	0.988000	0.46212	0.981000	0.71138	2.734000	0.47368	2.688000	0.91661	0.655000	0.94253	GAT	SZT2	-	NULL		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	G	NM_015284		43895462	+1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.990	A
TET1	80312	genome.wustl.edu	37	10	70405157	70405157	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:70405157G>T	ENST00000373644.4	+	4	2880	c.2671G>T	c.(2671-2673)Gtg>Ttg	p.V891L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	891					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGAGCAAGTGGTAGCCAT	0.443																																																	0													104.0	110.0	108.0					10																	70405157		2203	4299	6502	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2671G>T	10.37:g.70405157G>T	ENSP00000362748:p.Val891Leu		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.V891L	ENST00000373644.4	37	c.2671	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956062	0.53293	.	.	ENSG00000138336	ENST00000373644	T	0.11712	2.75	5.79	3.88	0.44766	.	0.330237	0.23056	N	0.052428	T	0.08313	0.0207	L	0.34521	1.04	0.31510	N	0.663697	B	0.27498	0.18	B	0.20577	0.03	T	0.07290	-1.0780	10	0.46703	T	0.11	.	8.6183	0.33845	0.0785:0.0:0.7719:0.1495	.	891	Q8NFU7	TET1_HUMAN	L	891	ENSP00000362748:V891L	ENSP00000362748:V891L	V	+	1	0	TET1	70075163	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.780000	0.47742	0.745000	0.32763	0.557000	0.71058	GTG	TET1	-	NULL		0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70405157	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM196	256130	genome.wustl.edu	37	7	19765158	19765158	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:19765158G>T	ENST00000405764.3	-	3	1134	c.438C>A	c.(436-438)caC>caA	p.H146Q	TMEM196_ENST00000433641.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000493519.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.H78Q|TMEM196_ENST00000405844.1_Missense_Mutation_p.H146Q	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	152						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						TTTCATGAGAGTGATGCAGGG	0.478																																																	0													65.0	61.0	62.0					7																	19765158		2203	4300	6503	SO:0001583	missense	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.438C>A	7.37:g.19765158G>T	ENSP00000384234:p.His146Gln		Q8N6I6	Missense_Mutation	SNP	NULL	p.H146Q	ENST00000405764.3	37	c.438	CCDS34607.2	7	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655946	0.47467	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.68	0.195	0.15151	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.29908	0.895	0.58432	D	0.999997	D	0.53462	0.96	D	0.66497	0.944	T	0.60880	-0.7175	9	0.87932	D	0	2.9357	11.8332	0.52307	0.4006:0.0:0.5994:0.0	.	146	Q5HYL7-4	.	Q	146;146;78;78;78	.	ENSP00000384234:H146Q	H	-	3	2	TMEM196	19731683	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.277000	0.33167	0.077000	0.16863	-0.794000	0.03295	CAC	TMEM196	-	NULL		0.478	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1	G	NM_152774		19765158	-1	no_errors	ENST00000405764	ensembl	human	known	70_37	missense	SNP	0.998	T
TMEM87B	84910	genome.wustl.edu	37	2	112843658	112843658	+	Silent	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:112843658G>T	ENST00000283206.4	+	9	1284	c.915G>T	c.(913-915)gtG>gtT	p.V305V	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	305						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGATCATTGTGAGCCTGGGCT	0.448																																																	0													150.0	137.0	141.0					2																	112843658		2203	4300	6503	SO:0001819	synonymous_variant	84910			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.915G>T	2.37:g.112843658G>T			A8K2M9|Q1RLN2|Q53R54	Silent	SNP	pfam_TM_rcpt_euk	p.V305	ENST00000283206.4	37	c.915	CCDS33275.1	2																																																																																			TMEM87B	-	pfam_TM_rcpt_euk		0.448	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	G	NM_032824		112843658	+1	no_errors	ENST00000283206	ensembl	human	known	70_37	silent	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170781816	170781816	+	Intron	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:170781816G>A	ENST00000436636.2	-	33	4344				TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000284483.8_Intron|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000369326.5_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAACCGTCCATCCATT	0.413																																																	0																																										SO:0001627	intron_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4000-63C>T	3.37:g.170781816G>A			A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	RNA	SNP	-	NULL	ENST00000436636.2	37	NULL	CCDS46956.1	3																																																																																			TNIK	-	-		0.413	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170781816	-1	no_errors	ENST00000464785	ensembl	human	putative	70_37	rna	SNP	0.999	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57069935	57069935	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr11:57069935C>T	ENST00000532437.1	-	6	4992	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E1561K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1561	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCACTGACCTCAATGAAGGAG	0.632																																																	0													32.0	34.0	33.0					11																	57069935		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4681G>A	11.37:g.57069935C>T	ENSP00000437271:p.Glu1561Lys		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.E1561K	ENST00000532437.1	37	c.4681	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444662	0.83993	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	4.68	3.75	0.43078	.	0.566324	0.15848	N	0.241689	T	0.46483	0.1395	L	0.60455	1.87	0.30785	N	0.741586	D;P	0.60160	0.987;0.95	P;P	0.56751	0.805;0.513	T	0.50558	-0.8814	10	0.72032	D	0.01	-14.022	8.0796	0.30737	0.0:0.8899:0.0:0.1101	.	1561;142	Q9C0C2;Q86TK2	TB182_HUMAN;.	K	1561	ENSP00000350990:E1561K;ENSP00000437271:E1561K	ENSP00000350990:E1561K	E	-	1	0	TNKS1BP1	56826511	0.947000	0.32204	0.998000	0.56505	0.987000	0.75469	1.924000	0.40065	2.315000	0.78130	0.561000	0.74099	GAG	TNKS1BP1	-	NULL		0.632	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57069935	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.993	T
TPD52L1	7164	genome.wustl.edu	37	6	125573171	125573171	+	Intron	SNP	T	T	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr6:125573171T>C	ENST00000534000.1	+	5	682				TPD52L1_ENST00000528193.1_Intron|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000368402.5_Intron|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000532429.1_Intron|TPD52L1_ENST00000304877.13_Silent_p.S130S|TPD52L1_ENST00000534199.1_Intron|TPD52L1_ENST00000368388.2_Intron|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000530868.1_Intron|HDDC2_ENST00000608456.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCTGCAGGTCTCACTCCATCG	0.592																																																	0																																										SO:0001627	intron_variant	7164			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.387-1692T>C	6.37:g.125573171T>C			A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	pfam_TPD52	p.S130	ENST00000534000.1	37	c.390	CCDS5130.1	6																																																																																			TPD52L1	-	pfam_TPD52		0.592	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	T			125573171	+1	no_errors	ENST00000304877	ensembl	human	novel	70_37	silent	SNP	0.993	C
TPRN	286262	genome.wustl.edu	37	9	140094220	140094220	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:140094220A>G	ENST00000409012.4	-	1	1030	c.944T>C	c.(943-945)cTc>cCc	p.L315P	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.L254P	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	315					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGGCCTGGAGGTCCCCCAA	0.657																																																	0													8.0	10.0	10.0					9																	140094220		2142	4219	6361	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.944T>C	9.37:g.140094220A>G	ENSP00000387100:p.Leu315Pro		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.L315P	ENST00000409012.4	37	c.944	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781913	0.31502	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.18	2.01	0.26516	.	0.467922	0.20511	N	0.090892	T	0.54481	0.1861	M	0.61703	1.905	0.53005	D	0.999963	B	0.14805	0.011	B	0.11329	0.006	T	0.52525	-0.8564	9	0.66056	D	0.02	.	6.414	0.21705	0.8717:0.0:0.1283:0.0	.	315	Q4KMQ1	TPRN_HUMAN	P	113;315;254	.	ENSP00000313704:L254P	L	-	2	0	TPRN	139214041	0.025000	0.19082	0.170000	0.22879	0.982000	0.71751	2.813000	0.48002	0.435000	0.26365	0.374000	0.22700	CTC	TPRN	-	NULL		0.657	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	A	NM_173691		140094220	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	0.874	G
TRIM33	51592	genome.wustl.edu	37	1	114968154	114968154	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:114968154G>T	ENST00000358465.2	-	9	1695	c.1612C>A	c.(1612-1614)Caa>Aaa	p.Q538K	TRIM33_ENST00000369543.2_Missense_Mutation_p.Q538K|TRIM33_ENST00000450349.2_Missense_Mutation_p.Q146K	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	538					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGGTGGTTGCTGCATCCTC	0.458			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													354.0	325.0	334.0					1																	114968154		2203	4300	6503	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1612C>A	1.37:g.114968154G>T	ENSP00000351250:p.Gln538Lys		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain	p.Q538K	ENST00000358465.2	37	c.1612	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.301357|3.301357	0.60195|0.60195	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.75367|.	-0.8;-0.71;-0.93|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.165528|.	0.53938|.	D|.	0.000044|.	T|T	0.60261|0.60261	0.2255|0.2255	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.45715|.	0.865;0.865;0.859;0.779|.	P;P;P;B|.	0.57620|.	0.824;0.824;0.473;0.281|.	T|T	0.58059|0.58059	-0.7703|-0.7703	10|5	0.10377|.	T|.	0.69|.	-9.2861|-9.2861	18.3776|18.3776	0.90440|0.90440	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	146;146;538;538|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	K|R	538;538;146|274	ENSP00000351250:Q538K;ENSP00000358556:Q538K;ENSP00000412077:Q146K|.	ENSP00000351250:Q538K|.	Q|S	-|-	1|3	0|2	TRIM33|TRIM33	114769677|114769677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	8.668000|8.668000	0.91158|0.91158	2.403000|2.403000	0.81681|0.81681	0.650000|0.650000	0.86243|0.86243	CAA|AGC	TRIM33	-	NULL		0.458	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	G	NM_015906		114968154	-1	no_errors	ENST00000358465	ensembl	human	known	70_37	missense	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98581100	98581100	+	Missense_Mutation	SNP	G	G	T	rs201104303		TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr7:98581100G>T	ENST00000359863.4	+	59	9228	c.9019G>T	c.(9019-9021)Ggc>Tgc	p.G3007C	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3007	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			gacctggtccggcatgcattc	0.507																																																	0													69.0	57.0	61.0					7																	98581100		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9019G>T	7.37:g.98581100G>T	ENSP00000352925:p.Gly3007Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G3007C	ENST00000359863.4	37	c.9019	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896415	0.33442	.	.	ENSG00000196367	ENST00000359863	T	0.03181	4.02	5.48	1.69	0.24217	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.405118	0.25517	N	0.030130	T	0.07143	0.0181	.	.	.	0.80722	D	1	P	0.49862	0.929	P	0.52343	0.696	T	0.33675	-0.9859	9	0.39692	T	0.17	.	6.8164	0.23833	0.4523:0.0:0.5477:0.0	.	3007	Q9Y4A5	TRRAP_HUMAN	C	3007	ENSP00000352925:G3007C	ENSP00000352925:G3007C	G	+	1	0	TRRAP	98419036	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.293000	0.22520	-0.142000	0.14014	GGC	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98581100	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179435285	179435285	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr2:179435285C>T	ENST00000591111.1	-	276	70875	c.70651G>A	c.(70651-70653)Gaa>Aaa	p.E23551K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16127K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16319K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22624K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16252K|TTN_ENST00000589042.1_Missense_Mutation_p.E25192K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23551	Ig-like 119.		E -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.E16127Q(1)		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)			ACTGATCTTTCTCCTGCAACA	0.443																																																	1	Substitution - Missense(1)	stomach(1)											79.0	72.0	74.0					2																	179435285		1945	4138	6083	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70651G>A	2.37:g.179435285C>T	ENSP00000465570:p.Glu23551Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E22624K	ENST00000591111.1	37	c.67870		2	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056389	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.37	5.37	0.77165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76407	0.3983	L	0.52206	1.635	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.77859	-0.2431	9	0.87932	D	0	.	19.47	0.94959	0.0:1.0:0.0:0.0	.	16127;16252;16319;23551	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22624;16127;16319;16252;16125	ENSP00000343764:E22624K;ENSP00000434586:E16127K;ENSP00000340554:E16319K;ENSP00000352154:E16252K	ENSP00000340554:E16319K	E	-	1	0	TTN	179143531	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.729000	0.84864	2.660000	0.90430	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179435285	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19420536	19420536	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr1:19420536C>T	ENST00000375254.3	-	95	13871	c.13844G>A	c.(13843-13845)gGc>gAc	p.G4615D	UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.G279D|UBR4_ENST00000375217.2_Missense_Mutation_p.G4608D|UBR4_ENST00000375224.1_Missense_Mutation_p.G322D|UBR4_ENST00000375226.2_Missense_Mutation_p.G4591D|UBR4_ENST00000375267.2_Missense_Mutation_p.G4615D|UBR4_ENST00000429347.2_Missense_Mutation_p.G138D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4615					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCGAAGCAGGCCCTGGAGCAC	0.507																																																	0													103.0	87.0	93.0					1																	19420536		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13844G>A	1.37:g.19420536C>T	ENSP00000364403:p.Gly4615Asp		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G4615D	ENST00000375254.3	37	c.13844	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802342	0.90538	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;1.58;1.58;1.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	T	0.61559	-0.7038	10	0.19147	T	0.46	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	279;138;4615;4591	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	D	4615;4615;4608;4591;322;138;279	ENSP00000364403:G4615D;ENSP00000364416:G4615D;ENSP00000364365:G4608D;ENSP00000364374:G4591D;ENSP00000364372:G322D;ENSP00000394173:G138D;ENSP00000444070:G279D	ENSP00000364365:G4608D	G	-	2	0	UBR4	19293123	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.298000	0.78815	2.785000	0.95823	0.591000	0.81541	GGC	UBR4	-	NULL		0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19420536	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	T
ULK4	54986	genome.wustl.edu	37	3	41504718	41504718	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr3:41504718G>C	ENST00000301831.4	-	33	3715	c.3253C>G	c.(3253-3255)Ctc>Gtc	p.L1085V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1085					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTTTCAGTGAGCAGGTTACAG	0.403																																																	0													158.0	147.0	150.0					3																	41504718		1970	4166	6136	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3253C>G	3.37:g.41504718G>C	ENSP00000301831:p.Leu1085Val		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1085V	ENST00000301831.4	37	c.3253	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579708	0.28180	.	.	ENSG00000168038	ENST00000301831	T	0.73258	-0.73	4.75	3.59	0.41128	Armadillo-like helical (1);Armadillo-type fold (1);	0.545910	0.13000	U	0.421745	T	0.49643	0.1569	N	0.24115	0.695	0.80722	D	1	P	0.36144	0.539	B	0.31101	0.124	T	0.48163	-0.9059	10	0.59425	D	0.04	.	2.74	0.05251	0.5492:0.0:0.2597:0.1911	.	1085	Q96C45	ULK4_HUMAN	V	1085	ENSP00000301831:L1085V	ENSP00000301831:L1085V	L	-	1	0	ULK4	41479722	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	1.724000	0.38064	0.681000	0.31386	-0.339000	0.08088	CTC	ULK4	-	superfamily_ARM-type_fold		0.403	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	G	XM_929989		41504718	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	0.993	C
CCDC144A	9720	genome.wustl.edu	37	17	16691337	16691337	+	3'UTR	DEL	G	G	-	rs377009881|rs11355675|rs145545906	byFrequency	TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:16691337delG	ENST00000443444.2	+	0	5610				RP11-92B11.3_ENST00000578710.1_RNA|RP11-219A15.4_ENST00000602730.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.1_ENST00000448331.3_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TCCTGGGGCCGGGGGGAAGCA	0.557													GGGGG|GGGGGG|GGGGG|insertion	918	0.183307	0.326	0.0922	5008	,	,		21840	0.1855		0.0288	False		,,,				2504	0.2117																0																																										SO:0001624	3_prime_UTR_variant	162632			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*1186G>-	17.37:g.16691337delG			O60311|Q6ZU57	RNA	DEL	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-		0.557	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		G			16691337	+1	no_errors	ENST00000393005	ensembl	human	known	70_37	rna	DEL	0.998	-
VPS13A	23230	genome.wustl.edu	37	9	79897050	79897050	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:79897050C>T	ENST00000360280.3	+	29	3238	c.2978C>T	c.(2977-2979)tCt>tTt	p.S993F	VPS13A_ENST00000376634.4_Missense_Mutation_p.S993F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S993F|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.S993F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	993					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATTTTTCCTCTTTGGATATT	0.363																																																	0													77.0	82.0	80.0					9																	79897050		2203	4296	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2978C>T	9.37:g.79897050C>T	ENSP00000353422:p.Ser993Phe		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S993F	ENST00000360280.3	37	c.2978	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150292	0.78001	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.994;0.994	T	0.52823	-0.8524	10	0.72032	D	0.01	.	18.0698	0.89403	0.0:1.0:0.0:0.0	.	993;993;993;993	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	993	ENSP00000365821:S993F;ENSP00000365823:S993F;ENSP00000353422:S993F;ENSP00000349985:S993F	ENSP00000349985:S993F	S	+	2	0	VPS13A	79086870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.249000	0.72427	2.363000	0.80096	0.563000	0.77884	TCT	VPS13A	-	NULL		0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	C	NM_015186		79897050	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR38	401551	genome.wustl.edu	37	9	127618159	127618159	+	Silent	SNP	G	G	A			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr9:127618159G>A	ENST00000373574.1	+	4	383	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	109					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGAGTGTGGAGACGGTCAGCT	0.627											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92.0	101.0	98.0					9																	127618159		2131	4241	6372	SO:0001819	synonymous_variant	401551				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.327G>A	9.37:g.127618159G>A		1558	A0PK24	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E109	ENST00000373574.1	37	c.327	CCDS43876.1	9																																																																																			WDR38	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.627	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	G	NM_001045476		127618159	+1	no_errors	ENST00000373574	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1637052	1637052	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr17:1637052C>T	ENST00000409644.1	+	7	4721	c.4721C>T	c.(4720-4722)tCt>tTt	p.S1574F	WDR81_ENST00000419248.1_Missense_Mutation_p.S347F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.S205F|WDR81_ENST00000309182.5_Missense_Mutation_p.S523F|WDR81_ENST00000446363.1_Missense_Mutation_p.S213F|WDR81_ENST00000437219.2_Missense_Mutation_p.S371F	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1574					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCAATGACTCTCGGCCTGAG	0.692																																																	0													27.0	28.0	28.0					17																	1637052		2202	4296	6498	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4721C>T	17.37:g.1637052C>T	ENSP00000386609:p.Ser1574Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1574F	ENST00000409644.1	37	c.4721	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	7.510	0.654521	0.14580	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.55930	2.36;2.35;0.5;2.37;0.63;0.49	5.18	4.22	0.49857	.	0.623355	0.16418	N	0.215299	T	0.40347	0.1113	L	0.42245	1.32	0.26405	N	0.976361	B;B;P;B	0.34780	0.257;0.257;0.468;0.257	B;B;B;B	0.29267	0.064;0.064;0.1;0.062	T	0.21109	-1.0255	9	.	.	.	.	9.45	0.38721	0.0:0.8379:0.0:0.1621	.	205;371;701;523	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	F	371;523;213;347;1574;325;205	ENSP00000391074:S371F;ENSP00000312074:S523F;ENSP00000401560:S213F;ENSP00000407845:S347F;ENSP00000386609:S1574F;ENSP00000442726:S205F	.	S	+	2	0	WDR81	1583802	0.003000	0.15002	0.190000	0.23270	0.032000	0.12392	1.396000	0.34531	1.210000	0.43336	-0.222000	0.12452	TCT	WDR81	-	NULL		0.692	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1637052	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.487	T
WNT8B	7479	genome.wustl.edu	37	10	102241723	102241723	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr10:102241723C>T	ENST00000343737.5	+	5	550	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	141					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTCGGAGAGGCGATTTCCAAG	0.602											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122.0	104.0	110.0					10																	102241723		2203	4300	6503	SO:0001583	missense	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.422C>T	10.37:g.102241723C>T	ENSP00000340677:p.Ala141Val	1365	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.A141V	ENST00000343737.5	37	c.422	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714078	0.68730	.	.	ENSG00000075290	ENST00000343737	T	0.76448	-1.02	5.37	5.37	0.77165	.	0.096401	0.64402	D	0.000001	T	0.68044	0.2958	N	0.20685	0.6	0.40016	D	0.97534	B	0.06786	0.001	B	0.08055	0.003	T	0.62604	-0.6819	10	0.42905	T	0.14	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	141	Q93098	WNT8B_HUMAN	V	141	ENSP00000340677:A141V	ENSP00000340677:A141V	A	+	2	0	WNT8B	102231713	0.999000	0.42202	0.996000	0.52242	0.983000	0.72400	3.957000	0.56730	2.682000	0.91365	0.561000	0.74099	GCG	WNT8B	-	pfam_Wnt,smart_Wnt		0.602	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	C	NM_003393		102241723	+1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF385A	25946	genome.wustl.edu	37	12	54764831	54764831	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A78R-01A-11D-A32I-09	TCGA-EA-A78R-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	767b4fdb-0aef-4174-bdea-9cba348720a9	8ed78eb9-423e-45b8-8007-22d00b35a620	g.chr12:54764831G>C	ENST00000338010.5	-	6	767	c.714C>G	c.(712-714)atC>atG	p.I238M	ZNF385A_ENST00000551109.1_Missense_Mutation_p.I218M|ZNF385A_ENST00000546970.1_Missense_Mutation_p.I218M|ZNF385A_ENST00000551771.1_Missense_Mutation_p.I137M|ZNF385A_ENST00000394313.2_Missense_Mutation_p.I218M|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Missense_Mutation_p.I157M	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	238	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTAAGCTTTGATGGGCCCGA	0.582																																																	0													72.0	80.0	78.0					12																	54764831		2203	4300	6503	SO:0001583	missense	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.714C>G	12.37:g.54764831G>C	ENSP00000338927:p.Ile238Met		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.I238M	ENST00000338010.5	37	c.714	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036413	0.54896	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;1.28;1.21	3.6	1.74	0.24563	.	0.123966	0.52532	D	0.000077	T	0.51618	0.1685	L	0.52573	1.65	0.48135	D	0.999598	D;D;P;P	0.89917	0.998;1.0;0.911;0.911	D;D;P;P	0.91635	0.935;0.999;0.577;0.577	T	0.41395	-0.9511	10	0.40728	T	0.16	-1.111	7.6715	0.28462	0.2071:0.0:0.7929:0.0	.	137;218;218;218	Q96PM9-2;F8VRY0;Q96PM9;F1T0F1	.;.;Z385A_HUMAN;.	M	218;157;218;238;218;137;218;246	ENSP00000449161:I218M;ENSP00000293385:I157M;ENSP00000377849:I218M;ENSP00000338927:I238M;ENSP00000446913:I218M;ENSP00000447162:I137M;ENSP00000448466:I218M;ENSP00000448567:I246M	ENSP00000338927:I238M	I	-	3	3	ZNF385A	53051098	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.278000	0.43426	0.331000	0.23511	0.491000	0.48974	ATC	ZNF385A	-	NULL		0.582	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	G	NM_015481		54764831	-1	no_errors	ENST00000338010	ensembl	human	known	70_37	missense	SNP	1.000	C
